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http://www.ncbi.nlm.nih.gov/pubmed/24934289,http://www.ncbi.nlm.nih.gov/pubmed/25428574,http://www.ncbi.nlm.nih.gov/pubmed/25193783,http://www.ncbi.nlm.nih.gov/pubmed/25155093 | What is known about diseases associated with mutations in the CHCHD10 gene? | Mutation c.197G>T p.G66V in CHCHD10 is the cause of the lower motor neuron syndrome LOSMoN/SMAJ.
Mutations in the CHCHD10 gene have been identified in a large family with a complex phenotype variably associating frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS), cerebellar ataxia, myopathy, and hearing impairment.
Other findings links CHCHD10 mutations to mitochondrial myopathy.Mutations in the CHCHD10 gene have been recently identified in a large family with a complex phenotype variably associating frontotemporal dementia (FTD) with amyotrophic lateral sclerosis (ALS), cerebellar ataxia, myopathy, and hearing impairment. |
http://www.ncbi.nlm.nih.gov/pubmed/1354979,http://www.ncbi.nlm.nih.gov/pubmed/7629986,http://www.ncbi.nlm.nih.gov/pubmed/8438687,http://www.ncbi.nlm.nih.gov/pubmed/2893240,http://www.ncbi.nlm.nih.gov/pubmed/11349753,http://www.ncbi.nlm.nih.gov/pubmed/18175099,http://www.ncbi.nlm.nih.gov/pubmed/14620397,http://www.ncbi.nlm.nih.gov/pubmed/9306053,http://www.ncbi.nlm.nih.gov/pubmed/8644960,http://www.ncbi.nlm.nih.gov/pubmed/1672103,http://www.ncbi.nlm.nih.gov/pubmed/8239101,http://www.ncbi.nlm.nih.gov/pubmed/2113543,http://www.ncbi.nlm.nih.gov/pubmed/1996802,http://www.ncbi.nlm.nih.gov/pubmed/8905360,http://www.ncbi.nlm.nih.gov/pubmed/21785147,http://www.ncbi.nlm.nih.gov/pubmed/1286503,http://www.ncbi.nlm.nih.gov/pubmed/2575692,http://www.ncbi.nlm.nih.gov/pubmed/19500521,http://www.ncbi.nlm.nih.gov/pubmed/8605789,http://www.ncbi.nlm.nih.gov/pubmed/8306565,http://www.ncbi.nlm.nih.gov/pubmed/11383664,http://www.ncbi.nlm.nih.gov/pubmed/3132054,http://www.ncbi.nlm.nih.gov/pubmed/2231833,http://www.ncbi.nlm.nih.gov/pubmed/2899985 | Which drug should be used as an antidote in benzodiazepine overdose? | Flumazenil should be used in all patients presenting with suspected benzodiazepine overdose. Flumazenil is a potent benzodiazepine receptor antagonist that competitively blocks the central effects of benzodiazepines and reverses behavioral, neurologic, and electrophysiologic effects of benzodiazepine overdose. Clinical efficacy and safety of flumazenil in treatment of benzodiazepine overdose has been confirmed in a number of rigorous clinical trials. In addition, flumazenil is also useful to to reverse benzodiazepine induced sedation and to and to diagnose benzodiazepine overdose. |
http://www.ncbi.nlm.nih.gov/pubmed/22541436,http://www.ncbi.nlm.nih.gov/pubmed/22525353,http://www.ncbi.nlm.nih.gov/pubmed/21149577,http://www.ncbi.nlm.nih.gov/pubmed/17379774 | Does thyroid hormone signaling affect microRNAs expression in the heart? | YES |
http://www.ncbi.nlm.nih.gov/pubmed/22258533,http://www.ncbi.nlm.nih.gov/pubmed/21068339,http://www.ncbi.nlm.nih.gov/pubmed/20569258,http://www.ncbi.nlm.nih.gov/pubmed/21415082,http://www.ncbi.nlm.nih.gov/pubmed/22921312,http://www.ncbi.nlm.nih.gov/pubmed/22315491,http://www.ncbi.nlm.nih.gov/pubmed/21897443,http://www.ncbi.nlm.nih.gov/pubmed/21943394,http://www.ncbi.nlm.nih.gov/pubmed/22480152,http://www.ncbi.nlm.nih.gov/pubmed/21493627,http://www.ncbi.nlm.nih.gov/pubmed/23420552,http://www.ncbi.nlm.nih.gov/pubmed/21542060 | Give examples of next-generation sequencing applications in mutation screening? | Next generation sequencing data for a particular genomic region can be seen as the summation of all the individual sequences (reads) obtained for that region and no longer as the mean of this sum as it is the case for traditional Sanger sequencing. NGS is introduced to an increasing number of mutation screening applications. An NGS based mutation screening procedure allowing the detection of inherited Alu insertions within any predefined sequence was used for the case of c.1739_1740insAlu in BRCA1 and c.156_157insAlu in BRCA2. Another NGS study screened BRCA1 and BRCA2 resulting in overall sensitivity for SOLiD and PGM of 97.8% (95% CI = 94.7 to 100.0) and 98.9% (95% CI = 96.8 to 100.0) respectively. The specificity for the SOLiD platform was high, at 100.0% (95% CI = 99.3 to 100.0). PGM correctly identified all 3 indels, but 68 false-positive indels were also called. Genes known to cause deafness were sequenced by the Illumina NGS platform. Results demonstrated that targeted exons captured by our approach achieved specificity, multiplexicity, uniformity, and depth of coverage suitable for accurate sequencing applications by the NGS systems. Reliable genotype calls for various homozygous and heterozygous mutations were achieved. In the context of von Willebrand disease 43 mutations, including 36 substitutions, 2 intronic splice site mutations, 2 indels, and 3 deletions were screened on the next-generation sequencing instrument. This demonstrated that at least 350 patients and relatives per run can be simultaneously analyzed in a fast, inexpensive manner. The Alport syndrome is caused by mutations in three key genes namely COL4A3, COL4A4 and COL4A5, each of which consists of approximately 50 exons, thus rendering mutations screening a highly time consuming and expensive endeavor. NGS is now being established for the simultaneous, fast and cost-effective detection of all possible variants in these three genes. NGS has also been used screening EGFR, KRAS and BRAF for mutations associated with cancer diagnosis and/or response to several anticancer therapies. NGS has also been used in mutation screening for hereditary spastic paraplegias, X linked leucoencephalopathy, retinitis pigmentosa, inherited urea cycle disorders, as well as the Marfan (MFS), Loeys-Dietz (LDS) and Meckel syndromes. |
http://www.ncbi.nlm.nih.gov/pubmed/7565067,http://www.ncbi.nlm.nih.gov/pubmed/24339619,http://www.ncbi.nlm.nih.gov/pubmed/23578790,http://www.ncbi.nlm.nih.gov/pubmed/24187634,http://www.ncbi.nlm.nih.gov/pubmed/21041995,http://www.ncbi.nlm.nih.gov/pubmed/19027594 | List common features of Shapiro syndrome | Shapiro syndrome is a rare entity, comprising a triad of recurrent hypothermia, hyperhidrosis and congenital agenesis of the corpus callosum. Hypermelatoninemia has also been described in a patient with Shapiro syndrome. |
http://www.ncbi.nlm.nih.gov/pubmed/22726567,http://www.ncbi.nlm.nih.gov/pubmed/24096295,http://www.ncbi.nlm.nih.gov/pubmed/24293564,http://www.ncbi.nlm.nih.gov/pubmed/23516405,http://www.ncbi.nlm.nih.gov/pubmed/22560338,http://www.ncbi.nlm.nih.gov/pubmed/20699105,http://www.ncbi.nlm.nih.gov/pubmed/23536326,http://www.ncbi.nlm.nih.gov/pubmed/22016815,http://www.ncbi.nlm.nih.gov/pubmed/23994547,http://www.ncbi.nlm.nih.gov/pubmed/23270976,http://www.ncbi.nlm.nih.gov/pubmed/22492990,http://www.ncbi.nlm.nih.gov/pubmed/22802640,http://www.ncbi.nlm.nih.gov/pubmed/21079609,http://www.ncbi.nlm.nih.gov/pubmed/21484200,http://www.ncbi.nlm.nih.gov/pubmed/22958973,http://www.ncbi.nlm.nih.gov/pubmed/23621888,http://www.ncbi.nlm.nih.gov/pubmed/24211371,http://www.ncbi.nlm.nih.gov/pubmed/22249109,http://www.ncbi.nlm.nih.gov/pubmed/21878566,http://www.ncbi.nlm.nih.gov/pubmed/24124122,http://www.ncbi.nlm.nih.gov/pubmed/21908517,http://www.ncbi.nlm.nih.gov/pubmed/24315484,http://www.ncbi.nlm.nih.gov/pubmed/23141534,http://www.ncbi.nlm.nih.gov/pubmed/23123587,http://www.ncbi.nlm.nih.gov/pubmed/21182206,http://www.ncbi.nlm.nih.gov/pubmed/22677272,http://www.ncbi.nlm.nih.gov/pubmed/21093492 | List mouse models for autism spectrum disorder (ASD). | Numerous mouse models exists for autism spectrum disorder, such as: BTBR T+tf/J (BTBR), maternal immune, activation (MIA) mouse model of gestational poly(IC) exposure, C58/J and ProSAP1/Shank2. |
http://www.ncbi.nlm.nih.gov/pubmed/25925131 | What is BioASQ? | BIOASQ assesses the ability of systems to semantically index very large numbers of biomedical scientific articles, and to return concise and user-understandable answers to given natural language questions by combining information from biomedical articles and ontologies. The BioASQ challenge is a competition on large-scale biomedical semantic indexing and question answering (QA). BIOASQ assesses the ability of systems to semantically index very large numbers of biomedical scientific articles, and to return concise and user-understandable answers to given natural language questions by combining information from biomedical articles and ontologies. BIOASQ helped obtain a unified view of how techniques from text classification, semantic indexing, document and passage retrieval, question answering, and text summarization can be combined to allow biomedical experts to obtain concise, user-understandable answers to questions reflecting their real information needs. |
http://www.ncbi.nlm.nih.gov/pubmed/24321297,http://www.ncbi.nlm.nih.gov/pubmed/20392851,http://www.ncbi.nlm.nih.gov/pubmed/18079183,http://www.ncbi.nlm.nih.gov/pubmed/21957497,http://www.ncbi.nlm.nih.gov/pubmed/24992036,http://www.ncbi.nlm.nih.gov/pubmed/23279204,http://www.ncbi.nlm.nih.gov/pubmed/22703643,http://www.ncbi.nlm.nih.gov/pubmed/17297477 | Which are the main functions of G3BP1 and G3BP2 proteins? | The main functions of G3BP1 and/or G3BP2 include translation of interferon stimulated mRNAs during dengue virus infection, initiation of assembly of stress granules, regulation of PMP22 mRNA which was found to affect cell proliferation in breast cancer cells, participation in several signaling pathways involved in growth, differentiation and apoptosis in human tumor cells after overexpression, limit viral replication events during Sindbis virus (SINV) infection, and modulation of p53 and MDM2 activity. |
http://www.ncbi.nlm.nih.gov/pubmed/19665883,http://www.ncbi.nlm.nih.gov/pubmed/20814596,http://www.ncbi.nlm.nih.gov/pubmed/22705138,http://www.ncbi.nlm.nih.gov/pubmed/21461591,http://www.ncbi.nlm.nih.gov/pubmed/16244018,http://www.ncbi.nlm.nih.gov/pubmed/17961846,http://www.ncbi.nlm.nih.gov/pubmed/8570054,http://www.ncbi.nlm.nih.gov/pubmed/14529014,http://www.ncbi.nlm.nih.gov/pubmed/23533436 | What is the definitive treatment for low pressure headache? | epidural blood patch |
http://www.ncbi.nlm.nih.gov/pubmed/17499229,http://www.ncbi.nlm.nih.gov/pubmed/18617481,http://www.ncbi.nlm.nih.gov/pubmed/21742996 | What is the role of the histidine rich calcium binding protein (HRC) in cardiomyopathy? | The histidine-rich Ca-binding protein (HRC), a 165 kDa sarcoplasmic reticulum (SR) protein, regulates SR Ca cycling during excitation–contraction coupling. HRC mutations or polymorphisms lead to cardiac dysfunction. The Ser96Ala genetic variant of HRC is associated with life-threatening ventricular arrhythmias and sudden death in idiopathic dilated cardiomyopathy (DCM). |
http://www.ncbi.nlm.nih.gov/pubmed/19734497,http://www.ncbi.nlm.nih.gov/pubmed/22362900,http://www.ncbi.nlm.nih.gov/pubmed/17143117,http://www.ncbi.nlm.nih.gov/pubmed/19587604,http://www.ncbi.nlm.nih.gov/pubmed/17330410,http://www.ncbi.nlm.nih.gov/pubmed/20682064 | What is the incidence of sudden cardiac death among young athletes? | the incidence of sudden cardiac death among young athletes ranges from 0.5 to 3 per 100,000 athletes per year . |
http://www.ncbi.nlm.nih.gov/pubmed/24972834 | What is the effect of amitriptyline in the mdx mouse model of Duchenne muscular dystrophy? | Amitriptyline is efficacious in ameliorating muscle inflammation and depressive symptoms in the mdx mouse model of Duchenne muscular dystrophyAmitriptyline treatment had anxiolytic and antidepressant effects in mdx mice associated with elevations in serotonin levels in the amygdala and hippocampus. On the other hand, inflammation in mdx skeletal muscle tissue was also reduced as indicated by decreased immune cell infiltration of muscle and lower levels of the pro-inflammatory cytokines tumour necrosis factor-α and interleukin-6 in the forelimb flexors.Amitriptyline is efficacious in ameliorating muscle inflammation and depressive symptoms in the mdx mouse model of Duchenne muscular dystrophy |
http://www.ncbi.nlm.nih.gov/pubmed/25938714,http://www.ncbi.nlm.nih.gov/pubmed/19515781,http://www.ncbi.nlm.nih.gov/pubmed/23645681,http://www.ncbi.nlm.nih.gov/pubmed/16648823,http://www.ncbi.nlm.nih.gov/pubmed/26430472,http://www.ncbi.nlm.nih.gov/pubmed/21803857 | Which post-translational histone modifications are characteristic of facultative heterochromatin? | Nuclear VapB methyltransferase diminishes the establishment of facultative heterochromatin by decreasing histone 3 lysine 9 trimethylation (H3K9me3). Dramatic changes in exposure of a repressive chromatin mark, H3K9me2, indicate that during development linker histone plays a role in establishing the facultative heterochromatin territory and architecture in the nucleus. Histone H3 trimethylation at lysine 36 is associated with constitutive and facultative heterochromatin. |
http://www.ncbi.nlm.nih.gov/pubmed/23365100,http://www.ncbi.nlm.nih.gov/pubmed/19034401,http://www.ncbi.nlm.nih.gov/pubmed/25500879,http://www.ncbi.nlm.nih.gov/pubmed/17846997,http://www.ncbi.nlm.nih.gov/pubmed/24183309,http://www.ncbi.nlm.nih.gov/pubmed/21808053 | Mutations in which genes have been associated with Aicardi-Goutieres syndrome? | Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). |
http://www.ncbi.nlm.nih.gov/pubmed/19717633,http://www.ncbi.nlm.nih.gov/pubmed/15819846,http://www.ncbi.nlm.nih.gov/pubmed/18378664,http://www.ncbi.nlm.nih.gov/pubmed/11976101,http://www.ncbi.nlm.nih.gov/pubmed/23038171,http://www.ncbi.nlm.nih.gov/pubmed/21112694,http://www.ncbi.nlm.nih.gov/pubmed/12368813,http://www.ncbi.nlm.nih.gov/pubmed/23446832,http://www.ncbi.nlm.nih.gov/pubmed/22327592,http://www.ncbi.nlm.nih.gov/pubmed/19651424,http://www.ncbi.nlm.nih.gov/pubmed/19129865,http://www.ncbi.nlm.nih.gov/pubmed/18451051,http://www.ncbi.nlm.nih.gov/pubmed/21337330,http://www.ncbi.nlm.nih.gov/pubmed/21255372,http://www.ncbi.nlm.nih.gov/pubmed/23275510,http://www.ncbi.nlm.nih.gov/pubmed/12788780,http://www.ncbi.nlm.nih.gov/pubmed/16204552,http://www.ncbi.nlm.nih.gov/pubmed/22510989,http://www.ncbi.nlm.nih.gov/pubmed/22432531,http://www.ncbi.nlm.nih.gov/pubmed/18497157,http://www.ncbi.nlm.nih.gov/pubmed/18843300,http://www.ncbi.nlm.nih.gov/pubmed/12626092,http://www.ncbi.nlm.nih.gov/pubmed/19346346,http://www.ncbi.nlm.nih.gov/pubmed/18279349,http://www.ncbi.nlm.nih.gov/pubmed/21261921,http://www.ncbi.nlm.nih.gov/pubmed/20010635,http://www.ncbi.nlm.nih.gov/pubmed/18450691,http://www.ncbi.nlm.nih.gov/pubmed/18059491,http://www.ncbi.nlm.nih.gov/pubmed/23416228,http://www.ncbi.nlm.nih.gov/pubmed/23894087 | List bacteria that may be useful in uranium bioremediation. | The main bacteria studied in uranium bioremediation are Geobacteraceae. Other bacteria are:
Firmicutes,
Shewanella oneidensis
Pseudomonas aeruginosa
Anaeromyxobacter dehalogenans
strain Rf4T |
http://www.ncbi.nlm.nih.gov/pubmed/16265378,http://www.ncbi.nlm.nih.gov/pubmed/17497253,http://www.ncbi.nlm.nih.gov/pubmed/15890322,http://www.ncbi.nlm.nih.gov/pubmed/15569843,http://www.ncbi.nlm.nih.gov/pubmed/16482041,http://www.ncbi.nlm.nih.gov/pubmed/17432514,http://www.ncbi.nlm.nih.gov/pubmed/16255754,http://www.ncbi.nlm.nih.gov/pubmed/19829181 | How much should be the duration of the QT interval in patients with short QT syndrome? | The short-QT syndrome is characterized by QT intervals <300-330 msec |
http://www.ncbi.nlm.nih.gov/pubmed/11172625,http://www.ncbi.nlm.nih.gov/pubmed/22068246,http://www.ncbi.nlm.nih.gov/pubmed/15611830,http://www.ncbi.nlm.nih.gov/pubmed/8070428,http://www.ncbi.nlm.nih.gov/pubmed/15701601,http://www.ncbi.nlm.nih.gov/pubmed/21654857,http://www.ncbi.nlm.nih.gov/pubmed/23257356,http://www.ncbi.nlm.nih.gov/pubmed/22837855 | What is known about potential implication of thyroid hormone receptors in arterial hypertension? | thyroid hormone receptors are implicated in arterial hypertensionAn associations between the THRA rs939348 polymorphism and systolic BP and the risk of hypertension has been observed
The levels of the three thyroid hormone receptors isoforms do not differ significantly between spontaneous hypertensive rats and control rats of the same age, either in the left or in the right ventricle.
The published results are still unconclusive. |
http://www.ncbi.nlm.nih.gov/pubmed/21860772,http://www.ncbi.nlm.nih.gov/pubmed/9876107,http://www.ncbi.nlm.nih.gov/pubmed/23199349,http://www.ncbi.nlm.nih.gov/pubmed/22291466,http://www.ncbi.nlm.nih.gov/pubmed/22672122,http://www.ncbi.nlm.nih.gov/pubmed/23344012 | What is the mechanism of action of abiraterone? | Abiraterone acts by inhibiting cytochrome P450 17α-hydroxylase (CYP17A1), a critical step in androgen biosynthesis, thus leading to inhibition of androgen biosynthesis. |
http://www.ncbi.nlm.nih.gov/pubmed/23378928,http://www.ncbi.nlm.nih.gov/pubmed/22751177,http://www.ncbi.nlm.nih.gov/pubmed/20817034,http://www.ncbi.nlm.nih.gov/pubmed/17760499,http://www.ncbi.nlm.nih.gov/pubmed/22114052,http://www.ncbi.nlm.nih.gov/pubmed/21304989,http://www.ncbi.nlm.nih.gov/pubmed/23503602,http://www.ncbi.nlm.nih.gov/pubmed/19469700 | The protein neprilysin has an positive effect on Alzheimer disease, how can it be delivered to the brain? | The protein neprilysin can be deliverered to the brain (crossing the blood brain barrier) through: gene tranfer, transgenesis, gene induction, ex-vivo gene therapy, intracardiac (peripheral) administration of viral neprilysin construct, syringe-focused ultrasound device, convection-enhanced delivery and the use of human adipose tissue-derived mesenchymal stem cells that secrete functional neprilysin-bound exosomes |
http://www.ncbi.nlm.nih.gov/pubmed/16157484,http://www.ncbi.nlm.nih.gov/pubmed/9823893,http://www.ncbi.nlm.nih.gov/pubmed/21217797,http://www.ncbi.nlm.nih.gov/pubmed/16381962,http://www.ncbi.nlm.nih.gov/pubmed/11508688,http://www.ncbi.nlm.nih.gov/pubmed/21300273,http://www.ncbi.nlm.nih.gov/pubmed/9711305,http://www.ncbi.nlm.nih.gov/pubmed/17251118,http://www.ncbi.nlm.nih.gov/pubmed/12594925,http://www.ncbi.nlm.nih.gov/pubmed/16822756,http://www.ncbi.nlm.nih.gov/pubmed/10376009 | Which species of bacteria did the mitochondria originate from? | Biologists agree that the ancestor of mitochondria was an alpha-proteobacterium. Although the Alphaproteobacteria are thought to be the closest relatives of the mitochondrial progenitor, there is dispute as to what its particular sister group is. Accumulating evolutionary data point to a monophyletic origin of mitochondria from the order Rickettsiales. Phylogenetic analyses indicate that R. prowazekii is more closely related to mitochondria than is any other microbe studied so far. |
http://www.ncbi.nlm.nih.gov/pubmed/22915114 | Which disease is linked to mutations within BRAG1? | Mutations in BRAG1 have been identified in families with X-linked intellectual disability (XLID). |
http://www.ncbi.nlm.nih.gov/pubmed/25531267,http://www.ncbi.nlm.nih.gov/pubmed/24807223,http://www.ncbi.nlm.nih.gov/pubmed/24170972,http://www.ncbi.nlm.nih.gov/pubmed/22482463,http://www.ncbi.nlm.nih.gov/pubmed/21674635,http://www.ncbi.nlm.nih.gov/pubmed/24164241,http://www.ncbi.nlm.nih.gov/pubmed/17584678,http://www.ncbi.nlm.nih.gov/pubmed/22821874 | Which is the main calcium pump of the sarcoplasmic reticulum? | Sarcoplasmic reticulum Ca(2+)-ATPase (SERCA) is the pump crucial for calcium homeostasis. SERCA is a membrane protein that belongs to the family of P-type ion translocating ATPases and pumps free cytosolic calcium into intracellular stores. |
http://www.ncbi.nlm.nih.gov/pubmed/3100113,http://www.ncbi.nlm.nih.gov/pubmed/2112988,http://www.ncbi.nlm.nih.gov/pubmed/409284,http://www.ncbi.nlm.nih.gov/pubmed/7904121,http://www.ncbi.nlm.nih.gov/pubmed/7492964,http://www.ncbi.nlm.nih.gov/pubmed/6418001,http://www.ncbi.nlm.nih.gov/pubmed/20509947 | What is the inheritance pattern of Hunter disease or mucopolysaccharidosis II? | X- linked recessive |
http://www.ncbi.nlm.nih.gov/pubmed/18794797,http://www.ncbi.nlm.nih.gov/pubmed/16254188,http://www.ncbi.nlm.nih.gov/pubmed/23686814,http://www.ncbi.nlm.nih.gov/pubmed/18366728,http://www.ncbi.nlm.nih.gov/pubmed/15126357,http://www.ncbi.nlm.nih.gov/pubmed/15473927,http://www.ncbi.nlm.nih.gov/pubmed/19728339,http://www.ncbi.nlm.nih.gov/pubmed/16951161,http://www.ncbi.nlm.nih.gov/pubmed/20571968,http://www.ncbi.nlm.nih.gov/pubmed/19270726,http://www.ncbi.nlm.nih.gov/pubmed/22723427,http://www.ncbi.nlm.nih.gov/pubmed/19074825,http://www.ncbi.nlm.nih.gov/pubmed/22688511,http://www.ncbi.nlm.nih.gov/pubmed/14726470,http://www.ncbi.nlm.nih.gov/pubmed/10984508,http://www.ncbi.nlm.nih.gov/pubmed/18089715,http://www.ncbi.nlm.nih.gov/pubmed/22374425,http://www.ncbi.nlm.nih.gov/pubmed/17332925 | Do ephrins play a role in brain cancer? | Eph receptors and ephrin ligands are involved in the development of the central nervous system. Their expression is often reported to be up-regulated in brain tumours and they may be considered molecular markers for the diagnosis of invasive and metastatic tumours. However, there are also reports describing the down-regulation of the Eph/ephrin family in brain cancer. |
http://www.ncbi.nlm.nih.gov/pubmed/18725402,http://www.ncbi.nlm.nih.gov/pubmed/12050116,http://www.ncbi.nlm.nih.gov/pubmed/14690605,http://www.ncbi.nlm.nih.gov/pubmed/19277716,http://www.ncbi.nlm.nih.gov/pubmed/16418273,http://www.ncbi.nlm.nih.gov/pubmed/19560424,http://www.ncbi.nlm.nih.gov/pubmed/15037547,http://www.ncbi.nlm.nih.gov/pubmed/19414561,http://www.ncbi.nlm.nih.gov/pubmed/21087929,http://www.ncbi.nlm.nih.gov/pubmed/15060144 | What is the effect of the absence of Saccharomyces cerevisiae Rrm3p? | The Saccharomyces cerevisiae RRM3 gene encodes a 5' to 3' DNA helicase. While replication of most of the yeast genome was not dependent upon Rrm3p, in its absence, replication forks paused and often broke at an estimated 1400 discrete sites, including tRNA genes, centromeres, inactive replication origins, and transcriptional silencers. These replication defects were associated with activation of the intra-S phase checkpoint. Activation of the checkpoint was critical for viability of rrm3Delta cells, especially at low temperatures.The Saccharomyces cerevisiae RRM3 gene encodes a 5 to 3 DNA helicase. While replication of most of the yeast genome was not dependent upon Rrm3p, in its absence, replication forks paused and often broke at an estimated 1400 discrete sites, including tRNA genes, centromeres, inactive replication origins, and transcriptional silencers. These replication defects were associated with activation of the intra-S phase checkpoint. Activation of the checkpoint was critical for viability of rrm3Delta cells, especially at low temperatures |
http://www.ncbi.nlm.nih.gov/pubmed/25309521,http://www.ncbi.nlm.nih.gov/pubmed/24822028,http://www.ncbi.nlm.nih.gov/pubmed/24185008,http://www.ncbi.nlm.nih.gov/pubmed/14718164,http://www.ncbi.nlm.nih.gov/pubmed/21364800,http://www.ncbi.nlm.nih.gov/pubmed/15337158,http://www.ncbi.nlm.nih.gov/pubmed/24808892 | Do all archaea possess multiple origins of DNA replication? | Origins of DNA replication differ in number and structure across the three domains of life and their properties determine the dynamics of chromosome replication. Though most archaea replicate their chromosomes using multiple origins, there are also certain archaea that possess a single origin of DNA replication (such as Pyrococcus abyssi and some archaea belonging in the hyperthermophilic order of Themococcales). |
http://www.ncbi.nlm.nih.gov/pubmed/22178446,http://www.ncbi.nlm.nih.gov/pubmed/23743150,http://www.ncbi.nlm.nih.gov/pubmed/23764619 | What is the ubiquitin proteome? | The ubiquitin proteome is the entire set ubiquitinated proteins and of their respective ubiquitination sites. |
http://www.ncbi.nlm.nih.gov/pubmed/25767797,http://www.ncbi.nlm.nih.gov/pubmed/24224954,http://www.ncbi.nlm.nih.gov/pubmed/24460252,http://www.ncbi.nlm.nih.gov/pubmed/25391899,http://www.ncbi.nlm.nih.gov/pubmed/23674612,http://www.ncbi.nlm.nih.gov/pubmed/25326752,http://www.ncbi.nlm.nih.gov/pubmed/24874734 | Which major signaling pathways are regulated by RIP1? | necroptosis
apoptosis
pro-survival/inflammation NF-κB activation |
http://www.ncbi.nlm.nih.gov/pubmed/7697953,http://www.ncbi.nlm.nih.gov/pubmed/3423165,http://www.ncbi.nlm.nih.gov/pubmed/6881176,http://www.ncbi.nlm.nih.gov/pubmed/21601076,http://www.ncbi.nlm.nih.gov/pubmed/14639139,http://www.ncbi.nlm.nih.gov/pubmed/9357887,http://www.ncbi.nlm.nih.gov/pubmed/11306012,http://www.ncbi.nlm.nih.gov/pubmed/7188336,http://www.ncbi.nlm.nih.gov/pubmed/6413073,http://www.ncbi.nlm.nih.gov/pubmed/8873544,http://www.ncbi.nlm.nih.gov/pubmed/3604881,http://www.ncbi.nlm.nih.gov/pubmed/9247742,http://www.ncbi.nlm.nih.gov/pubmed/6499637,http://www.ncbi.nlm.nih.gov/pubmed/1619750 | What is the effect induced by sympathetic nervous system on pupil size? | Pupil size is determined by the interaction of the parasympathetic and the sympathetic nervous system. The sympathetic nervous system acts either directly on the dilator muscle (peripherally) or centrally by inhibiting the Edinger-Westphal nucleus. Thus, the sympathetic nervous system mediates pupillary dilatation. |
http://www.ncbi.nlm.nih.gov/pubmed/11158290,http://www.ncbi.nlm.nih.gov/pubmed/12505990,http://www.ncbi.nlm.nih.gov/pubmed/15677466,http://www.ncbi.nlm.nih.gov/pubmed/12894228,http://www.ncbi.nlm.nih.gov/pubmed/16223731,http://www.ncbi.nlm.nih.gov/pubmed/17693123,http://www.ncbi.nlm.nih.gov/pubmed/20363924,http://www.ncbi.nlm.nih.gov/pubmed/12556537,http://www.ncbi.nlm.nih.gov/pubmed/22282470,http://www.ncbi.nlm.nih.gov/pubmed/8649779,http://www.ncbi.nlm.nih.gov/pubmed/19302050,http://www.ncbi.nlm.nih.gov/pubmed/8398903,http://www.ncbi.nlm.nih.gov/pubmed/10207090,http://www.ncbi.nlm.nih.gov/pubmed/13679070,http://www.ncbi.nlm.nih.gov/pubmed/10597218,http://www.ncbi.nlm.nih.gov/pubmed/15485830,http://www.ncbi.nlm.nih.gov/pubmed/11726516,http://www.ncbi.nlm.nih.gov/pubmed/8710364 | Is p100 the precursor protein molecule of the NF-kappaB transcription factor subunit p50? | No, the precursor molecule for NF-kappaB p50 is p105 and not p100. Nfkb2 encodes two members of the NF-kappa B/Rel family of proteins: p52 and p100. The p100 polypeptide has been proposed to serve as a precursor of p52 (and not of p50), which corresponds to the N-terminal half of p100. NF-kappaB functions as a hetero- or homo-dimer which can be formed from five NF-kappaB subunits, NF-kappaB1 (p50 and its precursor p105), NF-kappaB2 (p52 and its precursor p100), RelA (p65), RelB and c-Rel. |
http://www.ncbi.nlm.nih.gov/pubmed/22844540,http://www.ncbi.nlm.nih.gov/pubmed/20819124,http://www.ncbi.nlm.nih.gov/pubmed/24278531,http://www.ncbi.nlm.nih.gov/pubmed/17922020,http://www.ncbi.nlm.nih.gov/pubmed/23001200,http://www.ncbi.nlm.nih.gov/pubmed/23073116,http://www.ncbi.nlm.nih.gov/pubmed/14644200,http://www.ncbi.nlm.nih.gov/pubmed/19249648,http://www.ncbi.nlm.nih.gov/pubmed/24090504 | What is the definition and the biological role of epithelial-mesenchymal transition (EMT) | Epithelial-mesenchymal transition (EMT) is a complex process in which epithelial cells acquire the characteristics of invasive mesenchymal cells. EMT has been implicated in cancer progression and metastasis as well as the formation of many tissues and organs during development. Epithelial cells undergoing EMT lose cell-cell adhesion structures and polarity, and rearrange their cytoskeletons. Several oncogenic pathways such as transforming growth factor (TGF) -β, Wnt, and Notch signaling pathways, have been shown to induce EMT. The epithelial-mesenchymal transition (EMT) is a fundamental process governing morphogenesis in multicellular organisms. This process is also reactivated in a variety of diseases including fibrosis and in the progression of carcinoma.This process is also reactivated in a variety of diseases including fibrosis and in the progression of carcinoma. This term is used to describe the mechanisms facilitating cellular repositioning and redeployment during embryonic development and tissue reconstruction after injury. Several oncogenic pathways such as transforming growth factor (TGF) -β, Wnt, and Notch signaling pathways, have been shown to induce EMT. Recently, EMT has also been applied to potential mechanisms for malignant progression and has appeared as a specific diagnostic category of tumors. EMT has been implicated in cancer progression and metastasis as well as the formation of many tissues and organs during development. EMT has also been reported to produce cells with stem cell-like properties. These pathways have activated transcription factors including Snail, Slug, and the ZEB family which work as transcriptional repressors of E-cadherin, thereby making epithelial cells motile and resistant to apoptosis. Epithelial cells undergoing EMT lose cell-cell adhesion structures and polarity, and rearrange their cytoskeletons. Epithelial-to-mesenchymal transition (EMT) is a process known to contribute to metastasis in cancer and it is mainly characterized by loss of E-cadherin expression. This term is used to describe the mechanisms facilitating cellular repositioning and redeployment during embryonic development and tissue reconstruction after injury. This process is also reactivated in a variety of diseases including fibrosis and in the progression of carcinoma. Several oncogenic pathways such as transforming growth factor (TGF) -β, Wnt, and Notch signaling pathways, have been shown to induce EMT. Recently, EMT has also been applied to potential mechanisms for malignant progression and has appeared as a specific diagnostic category of tumors. EMT has been implicated in cancer progression and metastasis as well as the formation of many tissues and organs during development. EMT has also been reported to produce cells with stem cell-like properties. These pathways have activated transcription factors including Snail, Slug, and the ZEB family which work as transcriptional repressors of E-cadherin, thereby making epithelial cells motile and resistant to apoptosis. Epithelial cells undergoing EMT lose cell-cell adhesion structures and polarity, and rearrange their cytoskeletons. Epithelial-to-mesenchymal transition (EMT) is a process known to contribute to metastasis in cancer and it is mainly characterized by loss of E-cadherin expression. |
http://www.ncbi.nlm.nih.gov/pubmed/16601004,http://www.ncbi.nlm.nih.gov/pubmed/21729286,http://www.ncbi.nlm.nih.gov/pubmed/17166515,http://www.ncbi.nlm.nih.gov/pubmed/22250127,http://www.ncbi.nlm.nih.gov/pubmed/16431849,http://www.ncbi.nlm.nih.gov/pubmed/17035354,http://www.ncbi.nlm.nih.gov/pubmed/21900599,http://www.ncbi.nlm.nih.gov/pubmed/15680510,http://www.ncbi.nlm.nih.gov/pubmed/17709334,http://www.ncbi.nlm.nih.gov/pubmed/23376183,http://www.ncbi.nlm.nih.gov/pubmed/19141283 | Is there a difference in the rate between gene fusion and gene fission? | Yes. Several studies have estimated that gene fusion and fission are relatively rare events and the gene fusion/fission rate is approximately between 2 and 6. A conflicting case has been discovered in an analysis of plant genomes, where in Oryza sativa the opposite trend was observed. |
http://www.ncbi.nlm.nih.gov/pubmed/9585603,http://www.ncbi.nlm.nih.gov/pubmed/16773578,http://www.ncbi.nlm.nih.gov/pubmed/17584081,http://www.ncbi.nlm.nih.gov/pubmed/19289631,http://www.ncbi.nlm.nih.gov/pubmed/21562564,http://www.ncbi.nlm.nih.gov/pubmed/11180599,http://www.ncbi.nlm.nih.gov/pubmed/22488849,http://www.ncbi.nlm.nih.gov/pubmed/9207788,http://www.ncbi.nlm.nih.gov/pubmed/18775957,http://www.ncbi.nlm.nih.gov/pubmed/23095891,http://www.ncbi.nlm.nih.gov/pubmed/12497640,http://www.ncbi.nlm.nih.gov/pubmed/20087400,http://www.ncbi.nlm.nih.gov/pubmed/20823234,http://www.ncbi.nlm.nih.gov/pubmed/22156581,http://www.ncbi.nlm.nih.gov/pubmed/23359070,http://www.ncbi.nlm.nih.gov/pubmed/22891273,http://www.ncbi.nlm.nih.gov/pubmed/15712272,http://www.ncbi.nlm.nih.gov/pubmed/21196490,http://www.ncbi.nlm.nih.gov/pubmed/22974708,http://www.ncbi.nlm.nih.gov/pubmed/22210878 | What type of cancers and inherited diseases have been associated to mutations in the Notch pathway? | So far, mutations in Notch and other components of its signaling pathway have been implicated in an array of human diseases (T-cell leukemia and other cancers, Multiple Sclerosis, CADASIL, Alagille Syndrome, Spondylocostal Dysostosis), but more pathologies are likely to be associated with Notch in the future due to its network complexity. |
http://www.ncbi.nlm.nih.gov/pubmed/20890148,http://www.ncbi.nlm.nih.gov/pubmed/21538678,http://www.ncbi.nlm.nih.gov/pubmed/25233905,http://www.ncbi.nlm.nih.gov/pubmed/25299140,http://www.ncbi.nlm.nih.gov/pubmed/21372697,http://www.ncbi.nlm.nih.gov/pubmed/20651011,http://www.ncbi.nlm.nih.gov/pubmed/24971014,http://www.ncbi.nlm.nih.gov/pubmed/17050873,http://www.ncbi.nlm.nih.gov/pubmed/19450037,http://www.ncbi.nlm.nih.gov/pubmed/24419112,http://www.ncbi.nlm.nih.gov/pubmed/23707383,http://www.ncbi.nlm.nih.gov/pubmed/19090531,http://www.ncbi.nlm.nih.gov/pubmed/18246853,http://www.ncbi.nlm.nih.gov/pubmed/24458595,http://www.ncbi.nlm.nih.gov/pubmed/23557323,http://www.ncbi.nlm.nih.gov/pubmed/25083010,http://www.ncbi.nlm.nih.gov/pubmed/24650832,http://www.ncbi.nlm.nih.gov/pubmed/18310181,http://www.ncbi.nlm.nih.gov/pubmed/25150812,http://www.ncbi.nlm.nih.gov/pubmed/22926087,http://www.ncbi.nlm.nih.gov/pubmed/19900778,http://www.ncbi.nlm.nih.gov/pubmed/20656618,http://www.ncbi.nlm.nih.gov/pubmed/20930100 | Can cognitive behavioral therapy improve fatigue in cancer patients? | Yes, it has been documented that cognitive behavioral therapy reduces fatigue symptom severity in cancer patients. In addition, cognitive behavioral therapy has been also shown to improve mood and overall quality of life, and it can be successfully delivered through a variety of treatment modalities in patients with cancer. |
http://www.ncbi.nlm.nih.gov/pubmed/22665065,http://www.ncbi.nlm.nih.gov/pubmed/21349854,http://www.ncbi.nlm.nih.gov/pubmed/23507969,http://www.ncbi.nlm.nih.gov/pubmed/20826802,http://www.ncbi.nlm.nih.gov/pubmed/20935640,http://www.ncbi.nlm.nih.gov/pubmed/21282377,http://www.ncbi.nlm.nih.gov/pubmed/22124735,http://www.ncbi.nlm.nih.gov/pubmed/14672936,http://www.ncbi.nlm.nih.gov/pubmed/18094723,http://www.ncbi.nlm.nih.gov/pubmed/19679664,http://www.ncbi.nlm.nih.gov/pubmed/22608923,http://www.ncbi.nlm.nih.gov/pubmed/23820376,http://www.ncbi.nlm.nih.gov/pubmed/23776410,http://www.ncbi.nlm.nih.gov/pubmed/21827743 | Is protein Fbw7 a SCF type of E3 ubiquitin ligase? | Fbxw7 (also known as Fbw7, SEL-10, hCdc4, or hAgo) is the F-box protein subunit of an Skp1-Cul1-F-box protein (SCF)-type ubiquitin ligase complex that plays a central role in the degradation of Notch family members.The F-box protein Fbw7 (also known as Fbxw7, hCdc4 and Sel-10) functions as a substrate recognition component of a SCF-type E3 ubiquitin ligase. SCF(Fbw7) facilitates polyubiquitination and subsequent degradation of various proteins such as Notch, cyclin E, c-Myc and c-Jun.The F-box protein Fbw7 (also known as Fbxw7, hCdc4 and Sel-10) functions as a substrate recognition component of a SCF-type E3 ubiquitin ligase. SCF(Fbw7) facilitates polyubiquitination and subsequent degradation of various proteins such as Notch, cyclin E, c-Myc and c-Jun. |
http://www.ncbi.nlm.nih.gov/pubmed/19415493,http://www.ncbi.nlm.nih.gov/pubmed/15385857,http://www.ncbi.nlm.nih.gov/pubmed/16953954,http://www.ncbi.nlm.nih.gov/pubmed/17390923,http://www.ncbi.nlm.nih.gov/pubmed/15233598,http://www.ncbi.nlm.nih.gov/pubmed/20390664,http://www.ncbi.nlm.nih.gov/pubmed/20890872,http://www.ncbi.nlm.nih.gov/pubmed/21571270,http://www.ncbi.nlm.nih.gov/pubmed/23687004,http://www.ncbi.nlm.nih.gov/pubmed/11689727,http://www.ncbi.nlm.nih.gov/pubmed/23122895,http://www.ncbi.nlm.nih.gov/pubmed/8684695,http://www.ncbi.nlm.nih.gov/pubmed/23361854,http://www.ncbi.nlm.nih.gov/pubmed/10932809,http://www.ncbi.nlm.nih.gov/pubmed/18506324,http://www.ncbi.nlm.nih.gov/pubmed/8041527,http://www.ncbi.nlm.nih.gov/pubmed/11999199,http://www.ncbi.nlm.nih.gov/pubmed/21501085 | Is there increased incidence of incontinence in athletes? | There is a very high prevalence of urinary incontinence in women athletes. |
http://www.ncbi.nlm.nih.gov/pubmed/19089249,http://www.ncbi.nlm.nih.gov/pubmed/11057397,http://www.ncbi.nlm.nih.gov/pubmed/16354263,http://www.ncbi.nlm.nih.gov/pubmed/3359672,http://www.ncbi.nlm.nih.gov/pubmed/16440883,http://www.ncbi.nlm.nih.gov/pubmed/2061407,http://www.ncbi.nlm.nih.gov/pubmed/8830082 | What is the inheritance pattern of Apert syndrome? | The Apert syndrome is a disorder of autosomal dominant inheritance. |
http://www.ncbi.nlm.nih.gov/pubmed/15898103,http://www.ncbi.nlm.nih.gov/pubmed/21029240,http://www.ncbi.nlm.nih.gov/pubmed/11391780,http://www.ncbi.nlm.nih.gov/pubmed/23161666,http://www.ncbi.nlm.nih.gov/pubmed/15039233,http://www.ncbi.nlm.nih.gov/pubmed/20829083,http://www.ncbi.nlm.nih.gov/pubmed/7739505,http://www.ncbi.nlm.nih.gov/pubmed/19361871,http://www.ncbi.nlm.nih.gov/pubmed/16106061,http://www.ncbi.nlm.nih.gov/pubmed/11829341,http://www.ncbi.nlm.nih.gov/pubmed/15929040,http://www.ncbi.nlm.nih.gov/pubmed/1793022,http://www.ncbi.nlm.nih.gov/pubmed/16137612,http://www.ncbi.nlm.nih.gov/pubmed/21255614,http://www.ncbi.nlm.nih.gov/pubmed/19894121,http://www.ncbi.nlm.nih.gov/pubmed/18673215,http://www.ncbi.nlm.nih.gov/pubmed/15949496,http://www.ncbi.nlm.nih.gov/pubmed/22530047,http://www.ncbi.nlm.nih.gov/pubmed/15492125,http://www.ncbi.nlm.nih.gov/pubmed/15288396,http://www.ncbi.nlm.nih.gov/pubmed/17463082,http://www.ncbi.nlm.nih.gov/pubmed/18773082,http://www.ncbi.nlm.nih.gov/pubmed/18950873,http://www.ncbi.nlm.nih.gov/pubmed/16440059,http://www.ncbi.nlm.nih.gov/pubmed/20623621,http://www.ncbi.nlm.nih.gov/pubmed/17343922,http://www.ncbi.nlm.nih.gov/pubmed/17766043,http://www.ncbi.nlm.nih.gov/pubmed/16126908,http://www.ncbi.nlm.nih.gov/pubmed/15265674,http://www.ncbi.nlm.nih.gov/pubmed/22272832 | Which is the most widely used model for the study of multiple sclerosis (MS)? | Experimental autoimmune encephalomyelitis (EAE) is a classical, conventional and widely recognized animal model for studying multiple sclerosis (MS). EAE is the best available model for the inflammatory processes that occur in MS, and for the disease process. A less commonly used model is that of Theiler's murine encephalomyelitis virus (TMEV). |
http://www.ncbi.nlm.nih.gov/pubmed/23580068,http://www.ncbi.nlm.nih.gov/pubmed/21761402,http://www.ncbi.nlm.nih.gov/pubmed/20805372,http://www.ncbi.nlm.nih.gov/pubmed/22392042 | What is the usual HER-2 status in breast cancer associated with Li-Fraumeni syndrome? | In up to two thirds of breast cancer patients associated with Li-Fraumeni syndrome, the HER-2 status was found to be positive. |
http://www.ncbi.nlm.nih.gov/pubmed/8154510,http://www.ncbi.nlm.nih.gov/pubmed/7296908,http://www.ncbi.nlm.nih.gov/pubmed/578375,http://www.ncbi.nlm.nih.gov/pubmed/16042328,http://www.ncbi.nlm.nih.gov/pubmed/16889493 | What is the treatment of triiodothyronine toxicosis? | Treatment of T3 toxicosis is a complex medical problem because not well responsive to the various options. Usual treatment includes antithyroid drugs such as propyltiouracil, radioactive iodine or beta blockers like propanol; surgery may be also necessary in some cases. |
http://www.ncbi.nlm.nih.gov/pubmed/24674738,http://www.ncbi.nlm.nih.gov/pubmed/23877407,http://www.ncbi.nlm.nih.gov/pubmed/25810254,http://www.ncbi.nlm.nih.gov/pubmed/24525859,http://www.ncbi.nlm.nih.gov/pubmed/25561718,http://www.ncbi.nlm.nih.gov/pubmed/24135681,http://www.ncbi.nlm.nih.gov/pubmed/25404134,http://www.ncbi.nlm.nih.gov/pubmed/25263592,http://www.ncbi.nlm.nih.gov/pubmed/20393465,http://www.ncbi.nlm.nih.gov/pubmed/24480293,http://www.ncbi.nlm.nih.gov/pubmed/23728302 | Are there enhancer RNAs (eRNAs)? | Yes. Active enhancers are transcribed, producing a class of noncoding RNAs called enhancer RNAs (eRNAs). eRNAs are distinct from long noncoding RNAs (lncRNAs), but these two species of noncoding RNAs may share a similar role in the activation of mRNA transcription. |
http://www.ncbi.nlm.nih.gov/pubmed/1281815,http://www.ncbi.nlm.nih.gov/pubmed/20624389,http://www.ncbi.nlm.nih.gov/pubmed/21444689,http://www.ncbi.nlm.nih.gov/pubmed/12093788,http://www.ncbi.nlm.nih.gov/pubmed/7561689,http://www.ncbi.nlm.nih.gov/pubmed/16779818,http://www.ncbi.nlm.nih.gov/pubmed/16600873,http://www.ncbi.nlm.nih.gov/pubmed/15611332,http://www.ncbi.nlm.nih.gov/pubmed/16682526,http://www.ncbi.nlm.nih.gov/pubmed/11684705,http://www.ncbi.nlm.nih.gov/pubmed/19703420,http://www.ncbi.nlm.nih.gov/pubmed/11453980,http://www.ncbi.nlm.nih.gov/pubmed/20566687,http://www.ncbi.nlm.nih.gov/pubmed/9140728,http://www.ncbi.nlm.nih.gov/pubmed/21189294,http://www.ncbi.nlm.nih.gov/pubmed/20498018,http://www.ncbi.nlm.nih.gov/pubmed/16702234,http://www.ncbi.nlm.nih.gov/pubmed/16702233,http://www.ncbi.nlm.nih.gov/pubmed/15613247,http://www.ncbi.nlm.nih.gov/pubmed/22960634,http://www.ncbi.nlm.nih.gov/pubmed/7504063,http://www.ncbi.nlm.nih.gov/pubmed/20550937,http://www.ncbi.nlm.nih.gov/pubmed/21727197,http://www.ncbi.nlm.nih.gov/pubmed/12653556 | Which are the known human transmembrane nucleoporins? | Transmembrane nucleoporins (NUPs) are integral membrane components of the eukaryotic nuclear pore, playing an important role in the Nuclear Pore Complex (NPC) assembly. Even though the NPC is a conserved feature of all eukaryotes, different lineages possess some distinct transmembrane NUP subunits. Currently, four human transmembrane NUPs have been characterized, namely: NDC1 (also known as TMEM48 or NET3 or hNDC1), POM121 (also known as Nup121), GP210 (also known as Nuclear pore membrane glycoprotein 210 or Nuclear envelope pore membrane protein POM 210, POM210 or Nup210) and TMEM33 (or DB83). |
http://www.ncbi.nlm.nih.gov/pubmed/19948722,http://www.ncbi.nlm.nih.gov/pubmed/16551269,http://www.ncbi.nlm.nih.gov/pubmed/17873516,http://www.ncbi.nlm.nih.gov/pubmed/21173164,http://www.ncbi.nlm.nih.gov/pubmed/14532120,http://www.ncbi.nlm.nih.gov/pubmed/15337770,http://www.ncbi.nlm.nih.gov/pubmed/18056411 | Which E3 ubiquitin ligase mediates the ubiquitination and degradation of the interferon receptor type 1 (IFNAR1)? | Ubiquitination and degradation of the IFNAR1 (interferon alpha receptor 1) subunit of the type I interferon (IFN) receptor is mediated by the SCFbeta-Trcp (Skp1-Cullin1-F-box protein beta transducin repeat-containing protein) E3 ubiquitin ligase in a phosphorylation-dependent manner.Ubiquitination, endocytosis, and lysosomal degradation of the IFNAR1 (interferon alpha receptor 1) subunit of the type I interferon (IFN) receptor is mediated by the SCFbeta-Trcp (Skp1-Cullin1-F-box protein beta transducin repeat-containing protein) E3 ubiquitin ligase in a phosphorylation-dependent manner. |
http://www.ncbi.nlm.nih.gov/pubmed/19492354 | Are conserved noncoding elements associated with the evolution of animal body plans? | Yes. Cis-regulatory inputs identified by CNEs arose during the "re-wiring" of regulatory interactions that occurred during early animal evolution. Consequently, different animal groups, with different core GRNs, contain alternative sets of CNEs. Due to the subsequent stability of animal body plans, these core regulatory sequences have been evolving in parallel under strong purifying selection in different animal groups. |
http://www.ncbi.nlm.nih.gov/pubmed/15041703,http://www.ncbi.nlm.nih.gov/pubmed/20628239,http://www.ncbi.nlm.nih.gov/pubmed/9515812,http://www.ncbi.nlm.nih.gov/pubmed/16207479,http://www.ncbi.nlm.nih.gov/pubmed/24324362,http://www.ncbi.nlm.nih.gov/pubmed/21680534 | Which genes were found to be methylated in bladder cancer cells? | In bladder cancer, hepaCAM (hepatocyte cell adhesion molecule), RARβ(2), APC, TPEF (transmembrane protein containing epidermal growth factor and follistatin domain), RASSF1A, p14(ARF) and p16 genes were found to be methylated. These methylation events were demostrated to associate with downregulation of gene expression. |
http://www.ncbi.nlm.nih.gov/pubmed/22726460,http://www.ncbi.nlm.nih.gov/pubmed/23524404 | Are DNA methylation maps applicable to the diagnosis of non-small-cell lung carcinomas? | Yes.yes |
http://www.ncbi.nlm.nih.gov/pubmed/18775331,http://www.ncbi.nlm.nih.gov/pubmed/24981173,http://www.ncbi.nlm.nih.gov/pubmed/15371533 | Which domain of TIA-1 is necessary for stress granule assembly? | TIA-1 is an RNA binding protein that promotes the assembly of stress granules (SGs), discrete cytoplasmic inclusions into which stalled translation initiation complexes are dynamically recruited in cells subjected to environmental stress. The RNA recognition motifs of TIA-1 are linked to a glutamine-rich prion-related domain (PRD). Truncation mutants lacking the PRD domain do not induce spontaneous SGs and are not recruited to arsenite-induced SGs, whereas the PRD forms aggregates that are recruited to SGs in low-level-expressing cells but prevent SG assembly in high-level-expressing cells. |
http://www.ncbi.nlm.nih.gov/pubmed/21283724,http://www.ncbi.nlm.nih.gov/pubmed/17925880,http://www.ncbi.nlm.nih.gov/pubmed/19412431,http://www.ncbi.nlm.nih.gov/pubmed/17495026,http://www.ncbi.nlm.nih.gov/pubmed/20644164,http://www.ncbi.nlm.nih.gov/pubmed/21931165,http://www.ncbi.nlm.nih.gov/pubmed/12917689,http://www.ncbi.nlm.nih.gov/pubmed/23066153,http://www.ncbi.nlm.nih.gov/pubmed/17765686,http://www.ncbi.nlm.nih.gov/pubmed/21728169,http://www.ncbi.nlm.nih.gov/pubmed/20836156,http://www.ncbi.nlm.nih.gov/pubmed/16900776,http://www.ncbi.nlm.nih.gov/pubmed/17392286,http://www.ncbi.nlm.nih.gov/pubmed/17053834,http://www.ncbi.nlm.nih.gov/pubmed/19893491,http://www.ncbi.nlm.nih.gov/pubmed/22406061,http://www.ncbi.nlm.nih.gov/pubmed/21109933,http://www.ncbi.nlm.nih.gov/pubmed/18643924,http://www.ncbi.nlm.nih.gov/pubmed/18245814,http://www.ncbi.nlm.nih.gov/pubmed/18497946,http://www.ncbi.nlm.nih.gov/pubmed/21573132,http://www.ncbi.nlm.nih.gov/pubmed/20227366 | Is the protein product of the cylindromatosis gene (CYLD) a deubiquitinating enzyme? | CYLD is a tumour-suppressor gene that is mutated in a benign skin tumour syndrome called cylindromatosis. The CYLD gene product is a deubiquitinating enzyme that was shown to regulate cell proliferation, cell survival and inflammatory responses, mainly through inhibiting NF-kappaB signalling. The cylindromatosis tumor suppressor (CYLD) is a deubiquitinating enzyme that has been implicated in various aspects of adaptive and innate immune responses. The deubiquitinating enzyme CYLD has been identified as a key negative regulator for NF-kappaB. The cylindromatosis gene (CYLD) was identified as a tumor suppressor gene, which is mutated in familial cylindromatosis, an autosomal-dominant predisposition to multiple tumors of the skin appendages. CYLD is a deubiquitinating enzyme acting as a negative regulator of the nuclear factor κB (NF-κB) signaling pathway by removing lysine-63-linked polyubiquitin chains from NF-κB activating proteins.Here, we identify the deubiquitinating enzyme CYLD, the familial cylindromatosis tumor suppressor gene, as a negative regulator of proximal events in Wnt/beta-catenin signaling.CYLD, a tumor suppressor gene, has deubiquitinating enzyme activity and inhibits the activation of transcription factor NF-kappaB. Loss of the deubiquitinating activity of CYLD is correlated with tumorigenesis. |
http://www.ncbi.nlm.nih.gov/pubmed/20084102,http://www.ncbi.nlm.nih.gov/pubmed/16292313,http://www.ncbi.nlm.nih.gov/pubmed/17355966,http://www.ncbi.nlm.nih.gov/pubmed/18693240,http://www.ncbi.nlm.nih.gov/pubmed/17259630,http://www.ncbi.nlm.nih.gov/pubmed/15939934,http://www.ncbi.nlm.nih.gov/pubmed/16519522,http://www.ncbi.nlm.nih.gov/pubmed/12628190,http://www.ncbi.nlm.nih.gov/pubmed/20599755,http://www.ncbi.nlm.nih.gov/pubmed/12398767,http://www.ncbi.nlm.nih.gov/pubmed/14522075,http://www.ncbi.nlm.nih.gov/pubmed/23453808,http://www.ncbi.nlm.nih.gov/pubmed/14633678,http://www.ncbi.nlm.nih.gov/pubmed/12372304,http://www.ncbi.nlm.nih.gov/pubmed/15933069,http://www.ncbi.nlm.nih.gov/pubmed/21124902,http://www.ncbi.nlm.nih.gov/pubmed/19187761,http://www.ncbi.nlm.nih.gov/pubmed/23652029,http://www.ncbi.nlm.nih.gov/pubmed/12389038,http://www.ncbi.nlm.nih.gov/pubmed/15659850,http://www.ncbi.nlm.nih.gov/pubmed/17338551,http://www.ncbi.nlm.nih.gov/pubmed/12514135,http://www.ncbi.nlm.nih.gov/pubmed/17517655,http://www.ncbi.nlm.nih.gov/pubmed/10949293,http://www.ncbi.nlm.nih.gov/pubmed/16055700,http://www.ncbi.nlm.nih.gov/pubmed/12887887,http://www.ncbi.nlm.nih.gov/pubmed/21196496,http://www.ncbi.nlm.nih.gov/pubmed/21564555 | What is the characteristic domain of histone methyltransferases? | SET (suppressor of variegation, enhancer of zest and trithorax) domain |
http://www.ncbi.nlm.nih.gov/pubmed/26098021,http://www.ncbi.nlm.nih.gov/pubmed/23433107 | What is smFISH? | smFISH (Single-molecule fluorescence in situ hybridization) allows for quantitative imaging of single RNA molecules. Multi-color, single-molecule fluorescence in situ hybridization (smFISH) is particularly useful since it enables analysis of several different transcripts simultaneously. Combining smFISH with immunofluorescent protein detection provides additional information about the association between transcription level, cellular localization, and protein expression in individual cells. |
http://www.ncbi.nlm.nih.gov/pubmed/15980556,http://www.ncbi.nlm.nih.gov/pubmed/15564294,http://www.ncbi.nlm.nih.gov/pubmed/19329068,http://www.ncbi.nlm.nih.gov/pubmed/21056007,http://www.ncbi.nlm.nih.gov/pubmed/15608279,http://www.ncbi.nlm.nih.gov/pubmed/9521933,http://www.ncbi.nlm.nih.gov/pubmed/7584460,http://www.ncbi.nlm.nih.gov/pubmed/10487869,http://www.ncbi.nlm.nih.gov/pubmed/18801175,http://www.ncbi.nlm.nih.gov/pubmed/16963498,http://www.ncbi.nlm.nih.gov/pubmed/14654703,http://www.ncbi.nlm.nih.gov/pubmed/11337482,http://www.ncbi.nlm.nih.gov/pubmed/15784153,http://www.ncbi.nlm.nih.gov/pubmed/14764557,http://www.ncbi.nlm.nih.gov/pubmed/10764574,http://www.ncbi.nlm.nih.gov/pubmed/22537006,http://www.ncbi.nlm.nih.gov/pubmed/16772025,http://www.ncbi.nlm.nih.gov/pubmed/16306388,http://www.ncbi.nlm.nih.gov/pubmed/18801164,http://www.ncbi.nlm.nih.gov/pubmed/15374869,http://www.ncbi.nlm.nih.gov/pubmed/20726803 | Which are the bioinformatics tools for gene structure prediction?
| The in silico prediction of the complete structure of genes is one of the main challenges of bioinformatics. A critical part in the gene structure prediction is to identify the boundaries between exons and introns (i.e. splice sites) in the coding region. Several advanced bioinformatics tools have been developed for the precise delineation of a given gene structure: WPSS, SCGPred, TICO, GLIMMER, MetWAMer, WebScipio, GeneSeqer, SplicePredictor, DGSplicer, Transcript Assembly Program (TAP), GeneBuilder, SeqHelp, HSPL, RNASPL, HEXON, CDSB, HBR, FGENE and FGENEH for human genes.SCGPred: a score-based method for gene structure prediction by combining multiple sources of evidence. MetWAMer.gthXML is a special-purpose variant of the software, specifically tailored to refine gene structure predictions generated by the GenomeThreader [30] and GeneSeqer [31] programs for spliced alignment-based gene structure annotation. WebScipio: an online tool for the determination of gene structures using protein sequences. |
http://www.ncbi.nlm.nih.gov/pubmed/1912490,http://www.ncbi.nlm.nih.gov/pubmed/19343413,http://www.ncbi.nlm.nih.gov/pubmed/16667295,http://www.ncbi.nlm.nih.gov/pubmed/24226375,http://www.ncbi.nlm.nih.gov/pubmed/7625843,http://www.ncbi.nlm.nih.gov/pubmed/16667691,http://www.ncbi.nlm.nih.gov/pubmed/9484461 | Which is the major phytoalexin in alfalfa (Medicago sativa L.)? | The major phytoalexin in alfalfa (Medicago sativa L.) is the isoflavonoid (-)-medicarpin (or 6aR, 11aR)-medicarpin. Medicarpin is synthesized via the isoflavonoid branch of phenylpropanoid metabolism. |
http://www.ncbi.nlm.nih.gov/pubmed/21799470,http://www.ncbi.nlm.nih.gov/pubmed/20087345,http://www.ncbi.nlm.nih.gov/pubmed/16424866,http://www.ncbi.nlm.nih.gov/pubmed/19830689,http://www.ncbi.nlm.nih.gov/pubmed/22863973,http://www.ncbi.nlm.nih.gov/pubmed/20215880,http://www.ncbi.nlm.nih.gov/pubmed/22206672,http://www.ncbi.nlm.nih.gov/pubmed/20100207,http://www.ncbi.nlm.nih.gov/pubmed/12414657,http://www.ncbi.nlm.nih.gov/pubmed/15958556,http://www.ncbi.nlm.nih.gov/pubmed/19920824,http://www.ncbi.nlm.nih.gov/pubmed/23321672,http://www.ncbi.nlm.nih.gov/pubmed/19236378,http://www.ncbi.nlm.nih.gov/pubmed/21098700,http://www.ncbi.nlm.nih.gov/pubmed/12500936,http://www.ncbi.nlm.nih.gov/pubmed/20955243 | What is the correlation between SPARC expression and growth inhibition in human cancer? | Secreted protein acidic and rich in cysteine (SPARC) is a multi-faceted protein-modulating cell-cell and cell-matrix interactions. SPARC seems to act as a tumour suppressor, as it has been found that loss of SPARC accelerates the development of certain types of cancer, whereas its expression impairs tumor growth. However it has also been associated with a aggressive phenotypes of some tumours. The role of SPARC may depend on its subcellular localization. |
http://www.ncbi.nlm.nih.gov/pubmed/9070932,http://www.ncbi.nlm.nih.gov/pubmed/25551669,http://www.ncbi.nlm.nih.gov/pubmed/8717042,http://www.ncbi.nlm.nih.gov/pubmed/24112114,http://www.ncbi.nlm.nih.gov/pubmed/21488161,http://www.ncbi.nlm.nih.gov/pubmed/18043242,http://www.ncbi.nlm.nih.gov/pubmed/16791600,http://www.ncbi.nlm.nih.gov/pubmed/23804531,http://www.ncbi.nlm.nih.gov/pubmed/15896657,http://www.ncbi.nlm.nih.gov/pubmed/24072239,http://www.ncbi.nlm.nih.gov/pubmed/24521565,http://www.ncbi.nlm.nih.gov/pubmed/20458667,http://www.ncbi.nlm.nih.gov/pubmed/23521865,http://www.ncbi.nlm.nih.gov/pubmed/10411929,http://www.ncbi.nlm.nih.gov/pubmed/14993748,http://www.ncbi.nlm.nih.gov/pubmed/10594238,http://www.ncbi.nlm.nih.gov/pubmed/10648412,http://www.ncbi.nlm.nih.gov/pubmed/20617205,http://www.ncbi.nlm.nih.gov/pubmed/25582874,http://www.ncbi.nlm.nih.gov/pubmed/22762706,http://www.ncbi.nlm.nih.gov/pubmed/11984006,http://www.ncbi.nlm.nih.gov/pubmed/16518687,http://www.ncbi.nlm.nih.gov/pubmed/11854420,http://www.ncbi.nlm.nih.gov/pubmed/10482950,http://www.ncbi.nlm.nih.gov/pubmed/20368792 | Which syndrome is associated with mutations in the LYST gene? | Mutations in LYST, a gene encoding a putative lysosomal trafficking protein, cause Chédiak-Higashi syndrome (CHS), an autosomal recessive disorder typically characterized by infantile-onset hemophagocytic syndrome and immunodeficiency, and oculocutaneous albinism. A small number of reports of rare, attenuated forms of CHS exist, with affected individuals exhibiting progressive neurodegenerative disease beginning in early adulthood with cognitive decline, parkinsonism, features of spinocerebellar degeneration, and peripheral neuropathy, as well as subtle pigmentary abnormalities and subclinical or absent immune dysfunction. |
http://www.ncbi.nlm.nih.gov/pubmed/22160404,http://www.ncbi.nlm.nih.gov/pubmed/19427448,http://www.ncbi.nlm.nih.gov/pubmed/22798307,http://www.ncbi.nlm.nih.gov/pubmed/8902021,http://www.ncbi.nlm.nih.gov/pubmed/24029371,http://www.ncbi.nlm.nih.gov/pubmed/24326931,http://www.ncbi.nlm.nih.gov/pubmed/19332846 | Has the presence of delayed enhancement been documented in athletes performing strenuous exercise? | There are contrasting literature data on the presence of delayed enhancement, as a sign of myocardial fibrosis, in healthy athletes. More studies are necessary to define the presence, incidence and severity, as well clinical and prognostic meaning, of delayed enhancement magnetic resonance in healthy athletes. |
http://www.ncbi.nlm.nih.gov/pubmed/21442236,http://www.ncbi.nlm.nih.gov/pubmed/17535870,http://www.ncbi.nlm.nih.gov/pubmed/12538616,http://www.ncbi.nlm.nih.gov/pubmed/15687816,http://www.ncbi.nlm.nih.gov/pubmed/12063079 | How does dronedarone affect thyroid hormone signaling in the heart? | Dronedarone via its metabolite debutyldronedarone acts as a TRalpha(1)-selective inhibitor and selectively mimicks hypothyroidism.
Dronedarone decreases TRalpha 1 and beta 1 expression by about 50% in the right atrium (RA) while in the left ventricle, only TRbeta1 is found to be decreased. |
http://www.ncbi.nlm.nih.gov/pubmed/10809727,http://www.ncbi.nlm.nih.gov/pubmed/15208449,http://www.ncbi.nlm.nih.gov/pubmed/8898393,http://www.ncbi.nlm.nih.gov/pubmed/19279205,http://www.ncbi.nlm.nih.gov/pubmed/8614619,http://www.ncbi.nlm.nih.gov/pubmed/20417644,http://www.ncbi.nlm.nih.gov/pubmed/16782878,http://www.ncbi.nlm.nih.gov/pubmed/19467292,http://www.ncbi.nlm.nih.gov/pubmed/11839807,http://www.ncbi.nlm.nih.gov/pubmed/10444382,http://www.ncbi.nlm.nih.gov/pubmed/19223320,http://www.ncbi.nlm.nih.gov/pubmed/17346238,http://www.ncbi.nlm.nih.gov/pubmed/16230358,http://www.ncbi.nlm.nih.gov/pubmed/14978508 | Name the factors required for selenoprotein synthesis in eukaryotes | eFSec, SBP2, SECp43, PSTK, Sec synthase (Sec S, SLA/LP), SPS2 (SelD), tRNASec, SECIS element, (L30), SPS1 |
http://www.ncbi.nlm.nih.gov/pubmed/25637630,http://www.ncbi.nlm.nih.gov/pubmed/25624505,http://www.ncbi.nlm.nih.gov/pubmed/24148098,http://www.ncbi.nlm.nih.gov/pubmed/26339479,http://www.ncbi.nlm.nih.gov/pubmed/25099357,http://www.ncbi.nlm.nih.gov/pubmed/24482116,http://www.ncbi.nlm.nih.gov/pubmed/26040713,http://www.ncbi.nlm.nih.gov/pubmed/24641493,http://www.ncbi.nlm.nih.gov/pubmed/25690770,http://www.ncbi.nlm.nih.gov/pubmed/24109596 | What are the functions of the ESCRT machinery? | The endosomal sorting complexes required for transport (ESCRT) are needed for three distinct cellular functions in higher eukaryotes: (i) Multivesicular body formation for the degradation of transmembrane proteins in lysosomes, (ii) midbody abscission during cytokinesis and (iii) retroviral budding. |
http://www.ncbi.nlm.nih.gov/pubmed/7630635,http://www.ncbi.nlm.nih.gov/pubmed/9031081,http://www.ncbi.nlm.nih.gov/pubmed/9042862,http://www.ncbi.nlm.nih.gov/pubmed/10454538,http://www.ncbi.nlm.nih.gov/pubmed/17881001,http://www.ncbi.nlm.nih.gov/pubmed/7630199,http://www.ncbi.nlm.nih.gov/pubmed/9827724,http://www.ncbi.nlm.nih.gov/pubmed/19147556,http://www.ncbi.nlm.nih.gov/pubmed/9973200,http://www.ncbi.nlm.nih.gov/pubmed/9194486,http://www.ncbi.nlm.nih.gov/pubmed/7652577,http://www.ncbi.nlm.nih.gov/pubmed/7936665,http://www.ncbi.nlm.nih.gov/pubmed/9325318,http://www.ncbi.nlm.nih.gov/pubmed/11790141 | Which genes/proteins have been found to inhibit cyclin dependent kinase 4 (CDK4)? | The p15(ink4b) and p16(ink4a) CDK4 inhibitor genes map within the chromosome band 9p21 region deleted frequently in various cancers.The Cdk4 inhibitor p18(Ink4c) is a tumor suppressor. Recent studies of Cyclin D1/Cdk4 have proposed that p21(Waf1/Cip1/Sdi1) plays a key role as a potent Cdk4 inhibitor. p27KIP1 is also a cdk4 ihibitor. |
http://www.ncbi.nlm.nih.gov/pubmed/11230301,http://www.ncbi.nlm.nih.gov/pubmed/7554113,http://www.ncbi.nlm.nih.gov/pubmed/11882596,http://www.ncbi.nlm.nih.gov/pubmed/3035513,http://www.ncbi.nlm.nih.gov/pubmed/1595355,http://www.ncbi.nlm.nih.gov/pubmed/17227965,http://www.ncbi.nlm.nih.gov/pubmed/11566956,http://www.ncbi.nlm.nih.gov/pubmed/7498977,http://www.ncbi.nlm.nih.gov/pubmed/17137217,http://www.ncbi.nlm.nih.gov/pubmed/8039276,http://www.ncbi.nlm.nih.gov/pubmed/2854272 | What is the role of TRH in hypertension? | TRH gene overexpression induces hypertension in normal rats and spontaneously hypertensive rats have central TRH hyperactivity with increased TRH synthesis and release and an elevated TRH receptor number. TRH antisense treatment reduces hypertension.
central TRH participates in the hypertension induced by body weight gain probably through its well-known action on sympathetic activity.
the pressor effect of intravenous TRH is mediated primarily by a stimulation of alpha-adrenergic receptors. Activation of cardiac beta-adrenoceptors seems to contribute to the blood pressure increasing effect of intravenous TRH. Ang II system is involved in the TRH cardiovascular effects.
Polymorphisms in TRH (thyrotropin-releasing hormone) are significantly associated with both blood pressure variation and hypertension.
TRH may mediate the central leptin-induced hypertension effect
A parallel increase in the density of brain TRH receptors with elevation of blood pressure has been shown and suggests that brain TRH receptors may play an important role in the pathophysiology of hypertension. TRH Receptor gene participates in the etiopathogenesis of essential hypertension. |
http://www.ncbi.nlm.nih.gov/pubmed/18206802,http://www.ncbi.nlm.nih.gov/pubmed/17890426,http://www.ncbi.nlm.nih.gov/pubmed/15191886,http://www.ncbi.nlm.nih.gov/pubmed/15023559 | Is triadin involved in cardiac function? | Yes, triadin is involved in the regulation of cardiac excitation-contraction coupling. |
http://www.ncbi.nlm.nih.gov/pubmed/21916273,http://www.ncbi.nlm.nih.gov/pubmed/20837779,http://www.ncbi.nlm.nih.gov/pubmed/23577916,http://www.ncbi.nlm.nih.gov/pubmed/19214511,http://www.ncbi.nlm.nih.gov/pubmed/21862411,http://www.ncbi.nlm.nih.gov/pubmed/22408404,http://www.ncbi.nlm.nih.gov/pubmed/24321703,http://www.ncbi.nlm.nih.gov/pubmed/19342478,http://www.ncbi.nlm.nih.gov/pubmed/20542038 | Which disorders are associated to mutated Hepcidin (HAMP)? | Juvenile hemochromatosis (JH) is the most severe form of heriditary hemochromatosis, usually caused by mutations in hemojuvelin (HJV) or hepcidin (HAMP). |
http://www.ncbi.nlm.nih.gov/pubmed/16772299,http://www.ncbi.nlm.nih.gov/pubmed/15345721,http://www.ncbi.nlm.nih.gov/pubmed/17388107,http://www.ncbi.nlm.nih.gov/pubmed/18192322,http://www.ncbi.nlm.nih.gov/pubmed/9033809,http://www.ncbi.nlm.nih.gov/pubmed/21447388,http://www.ncbi.nlm.nih.gov/pubmed/8611507,http://www.ncbi.nlm.nih.gov/pubmed/16774736,http://www.ncbi.nlm.nih.gov/pubmed/2540000,http://www.ncbi.nlm.nih.gov/pubmed/19481088,http://www.ncbi.nlm.nih.gov/pubmed/10811908 | Which protein is the main inhibitor of protein phosphatase 1 (PP1)? | Inhibitor 1 (I-1) is a protein inhibitor of protein phosphatase 1 (PP1), a major eukaryotic Ser/Thr phosphatase. Nonphosphorylated I-1 is inactive, whereas phosphorylated I-1 is a potent PP1 inhibitor. Protein Phosphatase-1 is restrained by its endogenous inhibitor, protein phosphatase inhibitor-1 (PPI-1). Inhibition of the protein phosphatase 1, by inhibitor-1, significantly increases cardiac contractility and calcium handling. Inhibitor-1 becomes a potent inhibitor of protein phosphatase 1 when phosphorylated by cAMP-dependent protein kinase. |
http://www.ncbi.nlm.nih.gov/pubmed/24570026,http://www.ncbi.nlm.nih.gov/pubmed/23945056,http://www.ncbi.nlm.nih.gov/pubmed/23248629,http://www.ncbi.nlm.nih.gov/pubmed/21613614,http://www.ncbi.nlm.nih.gov/pubmed/24205237,http://www.ncbi.nlm.nih.gov/pubmed/22345666,http://www.ncbi.nlm.nih.gov/pubmed/22617827,http://www.ncbi.nlm.nih.gov/pubmed/21389264,http://www.ncbi.nlm.nih.gov/pubmed/24497360,http://www.ncbi.nlm.nih.gov/pubmed/24838349,http://www.ncbi.nlm.nih.gov/pubmed/23224024,http://www.ncbi.nlm.nih.gov/pubmed/23267025,http://www.ncbi.nlm.nih.gov/pubmed/24758196,http://www.ncbi.nlm.nih.gov/pubmed/24295292,http://www.ncbi.nlm.nih.gov/pubmed/25500436,http://www.ncbi.nlm.nih.gov/pubmed/20439745 | What is the role of NETs in systemic lupus erythematosus? | Neutrophil extracellular traps (NETs) are released via a novel form of cell death called NETosis. NETs, consisting of a chromatin meshwork decorated with antimicrobial peptides, play an important role in the innate response to microbial infections. Clearance of NETs is impaired in a subset of patients with systemic lupus erythematosus, and NETosis is increased in these patients low-density granulocytes, a phenotype that correlates with disease activity. NETs are composed of secreted chromatin that may act as a source of autoantigens typical for SLE. NETs can directly damage tissues - including the endothelium - with implications for lupus nephritis and accelerated atherosclerosis. |
http://www.ncbi.nlm.nih.gov/pubmed/21439943,http://www.ncbi.nlm.nih.gov/pubmed/19458189 | Which protein is required for Argonaute 2 recruitment to stress granules and P-bodies? | Hsp90 regulates the function of argonaute 2 and its recruitment to stress granules and P-bodies. |
http://www.ncbi.nlm.nih.gov/pubmed/19506735,http://www.ncbi.nlm.nih.gov/pubmed/18515733,http://www.ncbi.nlm.nih.gov/pubmed/18786252,http://www.ncbi.nlm.nih.gov/pubmed/19546609,http://www.ncbi.nlm.nih.gov/pubmed/21479927,http://www.ncbi.nlm.nih.gov/pubmed/19879448,http://www.ncbi.nlm.nih.gov/pubmed/17462970 | Is Mammaprint approved by the United States Food and Drug Administration? | Yes, Mammaprint has been approved by the US Food and Drug Administration. |
http://www.ncbi.nlm.nih.gov/pubmed/24138046,http://www.ncbi.nlm.nih.gov/pubmed/22265326,http://www.ncbi.nlm.nih.gov/pubmed/22659535,http://www.ncbi.nlm.nih.gov/pubmed/23384228,http://www.ncbi.nlm.nih.gov/pubmed/23968328,http://www.ncbi.nlm.nih.gov/pubmed/24292403,http://www.ncbi.nlm.nih.gov/pubmed/18434768,http://www.ncbi.nlm.nih.gov/pubmed/21362373,http://www.ncbi.nlm.nih.gov/pubmed/20375333,http://www.ncbi.nlm.nih.gov/pubmed/23843833,http://www.ncbi.nlm.nih.gov/pubmed/18408496,http://www.ncbi.nlm.nih.gov/pubmed/20231120,http://www.ncbi.nlm.nih.gov/pubmed/20687511,http://www.ncbi.nlm.nih.gov/pubmed/11331612,http://www.ncbi.nlm.nih.gov/pubmed/21955200,http://www.ncbi.nlm.nih.gov/pubmed/21204227,http://www.ncbi.nlm.nih.gov/pubmed/20833332,http://www.ncbi.nlm.nih.gov/pubmed/20442526,http://www.ncbi.nlm.nih.gov/pubmed/18751708,http://www.ncbi.nlm.nih.gov/pubmed/22461457,http://www.ncbi.nlm.nih.gov/pubmed/18203931,http://www.ncbi.nlm.nih.gov/pubmed/24900047,http://www.ncbi.nlm.nih.gov/pubmed/23652669 | What is known as Von Hippel–Lindau disease or syndrome? | von Hippel-Lindau (VHL) disease is a rare, autosomal dominantly inherited multisystem disorder characterized by development of a variety of benign and malignant tumors, which are usually accompanied with cysts. The spectrum of clinical manifestations of the disease is broad and includes retinal and central nervous system hemangioblastomas, endolymphatic sac tumors, renal cysts and tumors, pancreatic cysts and tumors, pheochromocytomas, and epididymal cystadenomas. The most common causes of death in VHL disease patients are renal cell carcinoma and neurologic complications from cerebellar hemangioblastomas. von Hippel-Lindau (VHL) syndrome is associated with mutations of the VHL tumor suppressor gene (3p25-26). Its estimated incidence ranges from 1 in 36,000 to 1 in 53,000 with a penetrance of up to 95% by age 60. The VHL tumour suppressor gene, responsible for the disease, encodes for a major regulator of the hypoxic response by targeting the transcription factor hypoxia inducible factor (HIF) for degradation. Loss of pVHL leads to activation of the HIF pathway in normoxia with the concomitant increase in tumour vascularisation due to the up-regulation of pro-angiogenic genes.In addition, many HIFalpha-independent functions of pVHL have recently been identified. These include microtubule-based processes, extracellular matrix assembly and suppression of kidney cyst formation.VHL is the result of a germline mutation in the VHL tumor suppressor gene. Loss of pVHL leads to activation of the HIF pathway in normoxia with the concomitant increase in tumour vascularisation due to the up-regulation of pro-angiogenic genes. These include microtubule-based processes, extracellular matrix assembly and suppression of kidney cyst formation. Clinical symptoms occur first after an age of approximately 30 years. Main manifestations include central nervous system (CNS) and retinal haemangioblastomas, endolymphatic sac tumors, clear-cell renal cell carcinomas (RCC), phaeochromocytomas and pancreatic neuroendocrine tumors. Type 1 VHL is predominantly associated with large deletion or truncation mutations which result in an encoded protein with very little or no activity. It is further classified into three other subtypes (2A, 2B, 2C) based on the presence of hemangioblastoma and renal cell carcinoma. In addition, many HIFalpha-independent functions of pVHL have recently been identified. It is associated with retinal and CNS hemangioblastoma and renal cell carcinoma but not pheochromocytoma. Incidence of VHLS is roughly 1 in 36,000 live births and has over 90% penetrance by the age of 65. |
http://www.ncbi.nlm.nih.gov/pubmed/21908901,http://www.ncbi.nlm.nih.gov/pubmed/23783223,http://www.ncbi.nlm.nih.gov/pubmed/21147694,http://www.ncbi.nlm.nih.gov/pubmed/21630056,http://www.ncbi.nlm.nih.gov/pubmed/22782294,http://www.ncbi.nlm.nih.gov/pubmed/23990774,http://www.ncbi.nlm.nih.gov/pubmed/23988598,http://www.ncbi.nlm.nih.gov/pubmed/22829865,http://www.ncbi.nlm.nih.gov/pubmed/21538107,http://www.ncbi.nlm.nih.gov/pubmed/22983903,http://www.ncbi.nlm.nih.gov/pubmed/23342251,http://www.ncbi.nlm.nih.gov/pubmed/19934333,http://www.ncbi.nlm.nih.gov/pubmed/23474221 | Is HER2 active only when it dimerizes? | Yes, HER2 activation is driven by the formation of various dimer complexes between members of this receptor family. |
http://www.ncbi.nlm.nih.gov/pubmed/19514905,http://www.ncbi.nlm.nih.gov/pubmed/16609367,http://www.ncbi.nlm.nih.gov/pubmed/20602616,http://www.ncbi.nlm.nih.gov/pubmed/19351209,http://www.ncbi.nlm.nih.gov/pubmed/21354501,http://www.ncbi.nlm.nih.gov/pubmed/15247625,http://www.ncbi.nlm.nih.gov/pubmed/23204921,http://www.ncbi.nlm.nih.gov/pubmed/18680696,http://www.ncbi.nlm.nih.gov/pubmed/18332899,http://www.ncbi.nlm.nih.gov/pubmed/18784465,http://www.ncbi.nlm.nih.gov/pubmed/18923406,http://www.ncbi.nlm.nih.gov/pubmed/19372817,http://www.ncbi.nlm.nih.gov/pubmed/18680695,http://www.ncbi.nlm.nih.gov/pubmed/20070406,http://www.ncbi.nlm.nih.gov/pubmed/21691271,http://www.ncbi.nlm.nih.gov/pubmed/21521028,http://www.ncbi.nlm.nih.gov/pubmed/20487194,http://www.ncbi.nlm.nih.gov/pubmed/19207023,http://www.ncbi.nlm.nih.gov/pubmed/18444831,http://www.ncbi.nlm.nih.gov/pubmed/18192781,http://www.ncbi.nlm.nih.gov/pubmed/18256392,http://www.ncbi.nlm.nih.gov/pubmed/18673126,http://www.ncbi.nlm.nih.gov/pubmed/17534855,http://www.ncbi.nlm.nih.gov/pubmed/21142908 | Which pharmacogenetic test is available for abacavir? | The pharmacogenetic test recommended prior to abacavir administration is the HLA B*5701 genotyping. |
http://www.ncbi.nlm.nih.gov/pubmed/18677110,http://www.ncbi.nlm.nih.gov/pubmed/19807731,http://www.ncbi.nlm.nih.gov/pubmed/23229728,http://www.ncbi.nlm.nih.gov/pubmed/23153241,http://www.ncbi.nlm.nih.gov/pubmed/24238656,http://www.ncbi.nlm.nih.gov/pubmed/23707524,http://www.ncbi.nlm.nih.gov/pubmed/22715154,http://www.ncbi.nlm.nih.gov/pubmed/22710432,http://www.ncbi.nlm.nih.gov/pubmed/23658527 | Are microRNA (miR) regulated through DNA methylation of their promoters? | Dysregulation of miRNA expression involved in cancer and Alzheimer's disease can be triggered by multiple mechanisms including aberrant DNA methylation of the miRNA gene promoter. Epigenetic dysregulation of tumor-suppressor miRNA genes by promoter DNA methylation has been implicated in human cancers, including multiple myeloma (MM).Dysregulation of miRNA expression involved in cancer can be triggered by multiple mechanisms including aberrant DNA methylation of the miRNA gene promoterRecently, epigenetic dysregulation of tumor-suppressor miRNA genes by promoter DNA methylation has been implicated in human cancers, including multiple myeloma (MM) |
http://www.ncbi.nlm.nih.gov/pubmed/21148149,http://www.ncbi.nlm.nih.gov/pubmed/19463783,http://www.ncbi.nlm.nih.gov/pubmed/1587867,http://www.ncbi.nlm.nih.gov/pubmed/20351051 | Are nucleosomes positioned at DNA replication origins? | No, origins of replication occur in nucleosome-free regions in both budding yeast and Drosophila. Open chromatin domains, characterized by nucleosome depletion, are preferentially permissive for replication. |
http://www.ncbi.nlm.nih.gov/pubmed/19536338,http://www.ncbi.nlm.nih.gov/pubmed/7498525,http://www.ncbi.nlm.nih.gov/pubmed/12112308,http://www.ncbi.nlm.nih.gov/pubmed/9725240,http://www.ncbi.nlm.nih.gov/pubmed/12943801,http://www.ncbi.nlm.nih.gov/pubmed/7504188,http://www.ncbi.nlm.nih.gov/pubmed/8893856,http://www.ncbi.nlm.nih.gov/pubmed/1741388,http://www.ncbi.nlm.nih.gov/pubmed/16531485,http://www.ncbi.nlm.nih.gov/pubmed/8543806,http://www.ncbi.nlm.nih.gov/pubmed/3996596,http://www.ncbi.nlm.nih.gov/pubmed/11070050 | Which are the most under-represented oligonucleotides in higher eukaryote genomes? | The oligonucleotides containing the CG and TA dinucleotide are generally under-represented in higher eukaryote genomesTpA is the most underepresented dinucleotide followed closely by CpG. For trinucleotides, GCA/TGC tends to be under-represented in phage, human viral, and eukaryotic sequences, and CTA/TAG is strongly under-represented in many prokaryotic, eukaryotic, and viral sequences. For higher lengts alternating Purine/Pyrimidine tracts are underepresented up to 60%.Oligonucleotides containing CG and TA dinucleoides |
http://www.ncbi.nlm.nih.gov/pubmed/21575527,http://www.ncbi.nlm.nih.gov/pubmed/19293809,http://www.ncbi.nlm.nih.gov/pubmed/21483304,http://www.ncbi.nlm.nih.gov/pubmed/23575267,http://www.ncbi.nlm.nih.gov/pubmed/24521695,http://www.ncbi.nlm.nih.gov/pubmed/23754473,http://www.ncbi.nlm.nih.gov/pubmed/21171927,http://www.ncbi.nlm.nih.gov/pubmed/23782513,http://www.ncbi.nlm.nih.gov/pubmed/24571331,http://www.ncbi.nlm.nih.gov/pubmed/18094616,http://www.ncbi.nlm.nih.gov/pubmed/23060940 | Does nimotuzumab improve survival of glioblastoma patients? | Yes. Nimotuzumab improves survival of adult and pediatric patients diagnosed with glioblastoma and with other high-grade gliomas. |
http://www.ncbi.nlm.nih.gov/pubmed/2135382,http://www.ncbi.nlm.nih.gov/pubmed/7714921,http://www.ncbi.nlm.nih.gov/pubmed/12803695,http://www.ncbi.nlm.nih.gov/pubmed/8464926,http://www.ncbi.nlm.nih.gov/pubmed/8381208,http://www.ncbi.nlm.nih.gov/pubmed/16006304,http://www.ncbi.nlm.nih.gov/pubmed/9443464,http://www.ncbi.nlm.nih.gov/pubmed/9771977,http://www.ncbi.nlm.nih.gov/pubmed/8710121,http://www.ncbi.nlm.nih.gov/pubmed/6859058,http://www.ncbi.nlm.nih.gov/pubmed/8263140 | List co-morbidities that may occur together with "Stiff man Syndrome" | SMS (Stiff man Syndrome) is is a rare disorder of the central nervous system of probable autoimmune origin and as such is associated with other autoimmune diseases, such as Insulin Dependent Diabetes Mellitus . GAD-65 is a dominant auto-antigen that is found both in in stiff-man syndrome and insulin-dependent diabetes mellitus. TRAB -positive Graves' disease has been reported to occur together with SMS.
In a subgroup of patients with the stiff-man syndrome, the condition is likely to have an autoimmune paraneoplastic origin. The detection of autoantibodies against the 128-kd antigen in patients with this syndrome should be considered an indication to search for an occult breast cancer.
HCV may be the etiologic virus of progressive encephalomyelitis with rigidity; a rare disorder similar to stiff-man syndrome although different because it is progressive and fatal.
It is possible that the reported case of association of progressive dementia with concomitant development of stiff-man syndrome in an elderly man represents an exaggerated form of such motor disturbances in dementia, and that clinical and electromyographic features of stiff-man syndrome may be present with increased incidence in patients with dementia. |
http://www.ncbi.nlm.nih.gov/pubmed/9308969,http://www.ncbi.nlm.nih.gov/pubmed/19011023,http://www.ncbi.nlm.nih.gov/pubmed/22201950,http://www.ncbi.nlm.nih.gov/pubmed/22056936,http://www.ncbi.nlm.nih.gov/pubmed/15375129,http://www.ncbi.nlm.nih.gov/pubmed/24914186,http://www.ncbi.nlm.nih.gov/pubmed/12270822,http://www.ncbi.nlm.nih.gov/pubmed/16950921,http://www.ncbi.nlm.nih.gov/pubmed/12644484,http://www.ncbi.nlm.nih.gov/pubmed/20435731,http://www.ncbi.nlm.nih.gov/pubmed/20971907,http://www.ncbi.nlm.nih.gov/pubmed/17917870 | Which mechanisms underlie adaptive mutagenesis (stationary-phase mutagenesis) in Bacillus subtilis? | Increased transcription levels potentiate adaptive mutagenesis. Central to stationary-phase mutagenesis in B. subtilis is the requirement for Mfd protein (transcription repair coupling factor). The B. subtilis' ability to accumulate chromosomal mutations under conditions of starvation is influenced by cell differentiation and transcriptional derepression, as well as by proteins homologous to transcription and repair factors. Under conditions of nutritional stress, the processing of deaminated bases in B. subtilis may normally occur in an error-prone manner to promote adaptive mutagenesis. A functional RecA protein is not required for adaptive mutagenesis, which seems to be independent of recombination-dependent repair and, in some cases, of the Y DNA polymerases. Oxidative stress-induced DNA damage has been associated with adaptive mutagenesis. The occurrence of such mutations is exacerbated by reactive oxygen species. Starved B. subtilis cells lacking a functional error prevention GO (8-oxo-G) system (composed of YtkD, MutM, and YfhQ) had a dramatic propensity to increase the number of stationary-phase-induced revertants. The MMR (encoded by the mutSL operon) protects B. subtilis from stationary-phase mutations. The MMR modulation of the mutagenic/antimutagenic properties of MutY regulates stationary-phase mutagenesis. Two of the genes that are involved in the regulation of post-exponential phase prokaryotic differentiation, comA and comK, are involved in adaptive mutagenesis. Also, YqjH, a homolog of DinB protein, plays a role in stationary phase mutagenesis. |
http://www.ncbi.nlm.nih.gov/pubmed/22956715,http://www.ncbi.nlm.nih.gov/pubmed/19223800 | What personality traits can be evaluated with the Ten Item Personality Inventory. | The Ten Item Personality Inventory measures each of the five major facets of personality: openness, extroversion, conscientiousness, agreeableness and neuroticism. |
http://www.ncbi.nlm.nih.gov/pubmed/23798680,http://www.ncbi.nlm.nih.gov/pubmed/21677656,http://www.ncbi.nlm.nih.gov/pubmed/17574768,http://www.ncbi.nlm.nih.gov/pubmed/23126280,http://www.ncbi.nlm.nih.gov/pubmed/18697214,http://www.ncbi.nlm.nih.gov/pubmed/22046262,http://www.ncbi.nlm.nih.gov/pubmed/22972992,http://www.ncbi.nlm.nih.gov/pubmed/17868033,http://www.ncbi.nlm.nih.gov/pubmed/20520769,http://www.ncbi.nlm.nih.gov/pubmed/22700584 | Which are the enzymes involved in the control of tubulin acetylation? | Acetyltransferase MEC-17, and deacetylases SIRT2 (Sirtuin 2), HDAC6 (histone deacetylase 6) and dTip60 are known to control the levels of tubulin acetylation. |
http://www.ncbi.nlm.nih.gov/pubmed/2952859,http://www.ncbi.nlm.nih.gov/pubmed/9815090,http://www.ncbi.nlm.nih.gov/pubmed/1320716,http://www.ncbi.nlm.nih.gov/pubmed/7579054,http://www.ncbi.nlm.nih.gov/pubmed/2173580,http://www.ncbi.nlm.nih.gov/pubmed/2148510,http://www.ncbi.nlm.nih.gov/pubmed/12087555,http://www.ncbi.nlm.nih.gov/pubmed/2148091,http://www.ncbi.nlm.nih.gov/pubmed/2958207,http://www.ncbi.nlm.nih.gov/pubmed/2142858,http://www.ncbi.nlm.nih.gov/pubmed/15481764,http://www.ncbi.nlm.nih.gov/pubmed/2210073,http://www.ncbi.nlm.nih.gov/pubmed/8065837,http://www.ncbi.nlm.nih.gov/pubmed/10405209,http://www.ncbi.nlm.nih.gov/pubmed/9338510,http://www.ncbi.nlm.nih.gov/pubmed/2956451,http://www.ncbi.nlm.nih.gov/pubmed/1837999,http://www.ncbi.nlm.nih.gov/pubmed/8853382,http://www.ncbi.nlm.nih.gov/pubmed/17070433,http://www.ncbi.nlm.nih.gov/pubmed/10092997,http://www.ncbi.nlm.nih.gov/pubmed/2526450,http://www.ncbi.nlm.nih.gov/pubmed/9702472,http://www.ncbi.nlm.nih.gov/pubmed/23927843,http://www.ncbi.nlm.nih.gov/pubmed/8432776 | Is there a relation between ANP and transcapillary albumin escape? | A possible role of ANP gene in conferring protection from nephropathy and microvascular damage in type 1 diabetes is present.
ANP infusion in healthy subjects caused a shift of plasma water and electrolytes from the circulation, with albumin escape as a secondary phenomenon |
http://www.ncbi.nlm.nih.gov/pubmed/16444286,http://www.ncbi.nlm.nih.gov/pubmed/17024483,http://www.ncbi.nlm.nih.gov/pubmed/21464883,http://www.ncbi.nlm.nih.gov/pubmed/12401900,http://www.ncbi.nlm.nih.gov/pubmed/22929880,http://www.ncbi.nlm.nih.gov/pubmed/15671523,http://www.ncbi.nlm.nih.gov/pubmed/21073206,http://www.ncbi.nlm.nih.gov/pubmed/11831069,http://www.ncbi.nlm.nih.gov/pubmed/19584824,http://www.ncbi.nlm.nih.gov/pubmed/22363762,http://www.ncbi.nlm.nih.gov/pubmed/20099379,http://www.ncbi.nlm.nih.gov/pubmed/22793867,http://www.ncbi.nlm.nih.gov/pubmed/20032453,http://www.ncbi.nlm.nih.gov/pubmed/22789835,http://www.ncbi.nlm.nih.gov/pubmed/17033447,http://www.ncbi.nlm.nih.gov/pubmed/20726677 | List all approved indications for Glivec | CML - blast crisis, in accelerated phase, and in chronic phase after interferon failure or intolerance. Glivec received orphan drug status from the U.S. Food and Drug Administration (FDA) Office of Orphan Products Development on January 31, 2001, and accelerated approval from the FDA for the above three indications on May 10, 2001.
Gastrointestinal stromal tumor (GIST
Treatment with adjuvant imatinib following surgical resection of localized Kit-positive GIST
In locally advanced inoperable patients and metastatic patients, Imatinib is the standard treatment.Dermatofibrosarcoma protuberans (DFSP) is an uncommon cutaneous neoplasm. |
http://www.ncbi.nlm.nih.gov/pubmed/21878639,http://www.ncbi.nlm.nih.gov/pubmed/21715505,http://www.ncbi.nlm.nih.gov/pubmed/24367644,http://www.ncbi.nlm.nih.gov/pubmed/19845642,http://www.ncbi.nlm.nih.gov/pubmed/20153011,http://www.ncbi.nlm.nih.gov/pubmed/19776130,http://www.ncbi.nlm.nih.gov/pubmed/18597676,http://www.ncbi.nlm.nih.gov/pubmed/24035396,http://www.ncbi.nlm.nih.gov/pubmed/17079095 | Which proteins induce inhibition of LINE-1 and Alu retrotransposition? | It was demonstrated that antiretroviral restriction factors, human APOBEC3 proteins A to H, differentially inhibit LINE-1 and Alu retrotransposition. The same effect was shown to be induced by the Aicardi-Goutières syndrome gene product SAMHD1. |
http://www.ncbi.nlm.nih.gov/pubmed/23167566,http://www.ncbi.nlm.nih.gov/pubmed/18378481 | Can chronological age be predicted by measuring telomere length? | No, telomere length measurement by real-time quantitative PCR cannot be used to predict age of a person, due to the presence of large inter-individual variations in telomere lengths. |
http://www.ncbi.nlm.nih.gov/pubmed/10403541,http://www.ncbi.nlm.nih.gov/pubmed/24152564,http://www.ncbi.nlm.nih.gov/pubmed/23534950,http://www.ncbi.nlm.nih.gov/pubmed/21403409,http://www.ncbi.nlm.nih.gov/pubmed/24502194,http://www.ncbi.nlm.nih.gov/pubmed/21929367,http://www.ncbi.nlm.nih.gov/pubmed/15906719,http://www.ncbi.nlm.nih.gov/pubmed/24052930,http://www.ncbi.nlm.nih.gov/pubmed/9553792,http://www.ncbi.nlm.nih.gov/pubmed/23696099,http://www.ncbi.nlm.nih.gov/pubmed/22639416,http://www.ncbi.nlm.nih.gov/pubmed/3582603,http://www.ncbi.nlm.nih.gov/pubmed/24316370,http://www.ncbi.nlm.nih.gov/pubmed/23479361,http://www.ncbi.nlm.nih.gov/pubmed/24188096 | What is a benefit of being g6PD-deficient? | Increased resistance to malaria, reduces the risk of coronary diseases, beneficial effect in terms of longevity |
http://www.ncbi.nlm.nih.gov/pubmed/23024658 | Describe the usefulness of Macrostomum lignano in ion channel and stem cell research | Bioelectrical signals generated by ion channels play crucial roles in many cellular processes in both excitable and nonexcitable cells. Some ion channels are directly implemented in chemical signaling pathways, the others are involved in regulation of cytoplasmic or vesicular ion concentrations, pH, cell volume, and membrane potentials. Together with ion transporters and gap junction complexes, ion channels form steady-state voltage gradients across the cell membranes in nonexcitable cells. These membrane potentials are involved in regulation of such processes as migration guidance, cell proliferation, and body axis patterning during development and regeneration. While the importance of membrane potential in stem cell maintenance, proliferation, and differentiation is evident, the mechanisms of this bioelectric control of stem cell activity are still not well understood, and the role of specific ion channels in these processes remains unclear. The flatworm Macrostomum lignano is a versatile model organism for addressing these topics. Experimental tools have been developed which demonstrate how manipulation of membrane potential influences regeneration in M. lignano. |
http://www.ncbi.nlm.nih.gov/pubmed/22392113,http://www.ncbi.nlm.nih.gov/pubmed/21757662,http://www.ncbi.nlm.nih.gov/pubmed/19682408,http://www.ncbi.nlm.nih.gov/pubmed/18486699,http://www.ncbi.nlm.nih.gov/pubmed/22952245,http://www.ncbi.nlm.nih.gov/pubmed/23208059,http://www.ncbi.nlm.nih.gov/pubmed/22732721,http://www.ncbi.nlm.nih.gov/pubmed/20725805,http://www.ncbi.nlm.nih.gov/pubmed/19409001,http://www.ncbi.nlm.nih.gov/pubmed/16369143,http://www.ncbi.nlm.nih.gov/pubmed/11680512,http://www.ncbi.nlm.nih.gov/pubmed/22134501,http://www.ncbi.nlm.nih.gov/pubmed/20375501 | Is there an association between c-reactive protein concentrations and outcomes of subarachnoid hemorrhage patients? | Yes. Higher concentrations of C-reactive protein are associated with worse outcomes of subarachnoid hemorrhage patients. |
http://www.ncbi.nlm.nih.gov/pubmed/23390548,http://www.ncbi.nlm.nih.gov/pubmed/22384042,http://www.ncbi.nlm.nih.gov/pubmed/10884518,http://www.ncbi.nlm.nih.gov/pubmed/11166288,http://www.ncbi.nlm.nih.gov/pubmed/17553556,http://www.ncbi.nlm.nih.gov/pubmed/17113046,http://www.ncbi.nlm.nih.gov/pubmed/7737328,http://www.ncbi.nlm.nih.gov/pubmed/2760634,http://www.ncbi.nlm.nih.gov/pubmed/16023708,http://www.ncbi.nlm.nih.gov/pubmed/17141847,http://www.ncbi.nlm.nih.gov/pubmed/15275774 | Which drug is benserazide usually co-administered with? | Co-administration of L-Dopa with carbidopa or benserazide is the most effective symptomatic treatment for Parkinson Disease (PD). |
http://www.ncbi.nlm.nih.gov/pubmed/17666061,http://www.ncbi.nlm.nih.gov/pubmed/18052993,http://www.ncbi.nlm.nih.gov/pubmed/15336972 | What is the inheritance pattern of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) caused by RYR2 mutations? | Autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) was mapped to chromosome 1q42-43 with identification of pathogenic mutations in RYR2. |
http://www.ncbi.nlm.nih.gov/pubmed/19679893,http://www.ncbi.nlm.nih.gov/pubmed/18841536,http://www.ncbi.nlm.nih.gov/pubmed/20180736,http://www.ncbi.nlm.nih.gov/pubmed/22430447,http://www.ncbi.nlm.nih.gov/pubmed/20616570,http://www.ncbi.nlm.nih.gov/pubmed/10218338,http://www.ncbi.nlm.nih.gov/pubmed/17476269,http://www.ncbi.nlm.nih.gov/pubmed/20642659,http://www.ncbi.nlm.nih.gov/pubmed/23336160,http://www.ncbi.nlm.nih.gov/pubmed/21506654,http://www.ncbi.nlm.nih.gov/pubmed/22266202,http://www.ncbi.nlm.nih.gov/pubmed/557175,http://www.ncbi.nlm.nih.gov/pubmed/17069738,http://www.ncbi.nlm.nih.gov/pubmed/23359581,http://www.ncbi.nlm.nih.gov/pubmed/23320153,http://www.ncbi.nlm.nih.gov/pubmed/20545934 | What is the INSURE procedure in premature babies. | The INSURE procedure includes intubation, surfactant administration, and extubation (InSurE). It is used to treat respiratory distress syndrome in newborns.InSurE stands for Intubation-surfactant-extubation and is a method in the treatment of neonatal respiratory distress syndrome (NRDS) |
http://www.ncbi.nlm.nih.gov/pubmed/15719064,http://www.ncbi.nlm.nih.gov/pubmed/23325628,http://www.ncbi.nlm.nih.gov/pubmed/18834496,http://www.ncbi.nlm.nih.gov/pubmed/22693219,http://www.ncbi.nlm.nih.gov/pubmed/22595237,http://www.ncbi.nlm.nih.gov/pubmed/19635172,http://www.ncbi.nlm.nih.gov/pubmed/22513129,http://www.ncbi.nlm.nih.gov/pubmed/21884822,http://www.ncbi.nlm.nih.gov/pubmed/18204916,http://www.ncbi.nlm.nih.gov/pubmed/18834498,http://www.ncbi.nlm.nih.gov/pubmed/12689350,http://www.ncbi.nlm.nih.gov/pubmed/18834492,http://www.ncbi.nlm.nih.gov/pubmed/18508809,http://www.ncbi.nlm.nih.gov/pubmed/18834495,http://www.ncbi.nlm.nih.gov/pubmed/18712320,http://www.ncbi.nlm.nih.gov/pubmed/18283029,http://www.ncbi.nlm.nih.gov/pubmed/15998455,http://www.ncbi.nlm.nih.gov/pubmed/19850753,http://www.ncbi.nlm.nih.gov/pubmed/23221174,http://www.ncbi.nlm.nih.gov/pubmed/18834500,http://www.ncbi.nlm.nih.gov/pubmed/21106487,http://www.ncbi.nlm.nih.gov/pubmed/21062765,http://www.ncbi.nlm.nih.gov/pubmed/19828077,http://www.ncbi.nlm.nih.gov/pubmed/18207462,http://www.ncbi.nlm.nih.gov/pubmed/19234603,http://www.ncbi.nlm.nih.gov/pubmed/20671319,http://www.ncbi.nlm.nih.gov/pubmed/20617200,http://www.ncbi.nlm.nih.gov/pubmed/20122157,http://www.ncbi.nlm.nih.gov/pubmed/18237434,http://www.ncbi.nlm.nih.gov/pubmed/22711795,http://www.ncbi.nlm.nih.gov/pubmed/22438567,http://www.ncbi.nlm.nih.gov/pubmed/15941473,http://www.ncbi.nlm.nih.gov/pubmed/19594875,http://www.ncbi.nlm.nih.gov/pubmed/18487273 | Which are the available biomedical text mining tools for the detection of protein-protein interactions? | Protein-protein interactions (PPI) can be extracted from biomedical literature using text mining approaches. These approaches have been classified into two categories, the statistical calculation of the co-occurrence of proteins and the computational linguistic method. Moreover, bioinformatics methods based on sequence, structural, or evolutionary information have been developed to predict protein-protein interactions. The available state-of-the-art biomedical text mining tools are: eFIP (Extracting Functional Impact of Phosphorylation), a system for text mining of protein interaction networks of phosphorylated proteins; GeneView, a suite of state-of-the-art text-mining tools designed for the automated identification of protein–protein interactions; PPI finder, a text mining tool for human protein-protein interactions based on computational linguistic methods. PPI Finder system consists of the Information Retrieval module and Information Extraction module; PreBIND and Textomy are two components of a biomedical literature-mining system optimized to discover protein-protein interactions using a support vector machine; BioMap system is optimized for the identification of protein-protein interactions from large biomedical literature datasets; Protopia searches for and integrates protein-protein interactions and the information about them contained in five different Protein Interaction Web Databases; STRING uses Natural Language Processing to extract a subset of semantically specified known and predicted protein-protein interactions.Several tools have been developed to detect protein-protein interactions (PPIs) by text mining the biomedical literature. Two main computational approaches used for this task are co-occurrence-based methods and Natural Language Processing methods. Biomedical text mining tools for PPI identification are the following (in alphabetical order): BioCreative Meta Server, BioMap, eFIP, Extracting Functional Impact of Phosphorylation, GeneView, HAPPI, Hidden Vector State model, iHop, LAITOR, OntoGene, OpenDMAP, PIE (Protein interaction information extraction system), PPI finder (Paired-PPI Finder), PPInterFinder, PPIs, PolySearch, PreBind and Textomy, Protopia, STRING, TafTalent. |
http://www.ncbi.nlm.nih.gov/pubmed/11101869,http://www.ncbi.nlm.nih.gov/pubmed/19514601,http://www.ncbi.nlm.nih.gov/pubmed/9886394,http://www.ncbi.nlm.nih.gov/pubmed/11321234,http://www.ncbi.nlm.nih.gov/pubmed/9020075 | How thyrocyte destruction is induced in autoimmune thyroiditis? | Thyrocytes from Hashimoto's thyroiditis (HT) glands, but not from nonautoimmune thyroids, expressed Fas (CD95), therefore autonomous interaction between thyrocyte Fas (CD95) and FasL (CD95L) has been proposed as a major mechanism of thyrocyte depletion in HT. Moreover, experimental evidence has showed that Infiltrating T Lymphocytes (ITLs) do not express significant amounts of FasL, suggesting that ITLs are not directly involved in thyrocyte destruction. |
http://www.ncbi.nlm.nih.gov/pubmed/11953316,http://www.ncbi.nlm.nih.gov/pubmed/18497856,http://www.ncbi.nlm.nih.gov/pubmed/22713752,http://www.ncbi.nlm.nih.gov/pubmed/20130288,http://www.ncbi.nlm.nih.gov/pubmed/24153156,http://www.ncbi.nlm.nih.gov/pubmed/19141474,http://www.ncbi.nlm.nih.gov/pubmed/3497271,http://www.ncbi.nlm.nih.gov/pubmed/7172763 | Do A-type lamins bind euchromatin or heterochromatin? | These data reveal that the domain encoded by exon 9 is important to maintain telomere homeostasis and heterochromatin structure but does not play a role in DNA repair, thus pointing to other exons in the lamin A tail as responsible for the genomic instability phenotype in Lmna(Δ8-11/Δ8-11) miceComparative genomic hybridization (CGH) analyses of microdissected blebs, fluorescence in situ hybridization (FISH), and immunofluorescence localization of modified histones demonstrate that gene-rich euchromatin associates with the LA/C blebs. On the other hand, the domain encoded by exon 9 is important to maintain telomere homeostasis and heterochromatin structure but does not play a role in DNA repair, thus pointing to other exons in the lamin A tail as responsible for the genomic instability phenotype in Lmna(Δ8-11/Δ8-11) mice |
http://www.ncbi.nlm.nih.gov/pubmed/21718685,http://www.ncbi.nlm.nih.gov/pubmed/24018323,http://www.ncbi.nlm.nih.gov/pubmed/23298812,http://www.ncbi.nlm.nih.gov/pubmed/16307124,http://www.ncbi.nlm.nih.gov/pubmed/23933017,http://www.ncbi.nlm.nih.gov/pubmed/19403948 | Which is the most abundant membrane protein on Earth? | LHCII, the largest plant photosynthetic pigment-protein complex of photosystem II, is a most abundant membrane protein in living organisms and comprises approximately half of the pool of chlorophyll molecules in the biosphere. |
http://www.ncbi.nlm.nih.gov/pubmed/24225116,http://www.ncbi.nlm.nih.gov/pubmed/24034318,http://www.ncbi.nlm.nih.gov/pubmed/19056941,http://www.ncbi.nlm.nih.gov/pubmed/1932016,http://www.ncbi.nlm.nih.gov/pubmed/23934657,http://www.ncbi.nlm.nih.gov/pubmed/22056773,http://www.ncbi.nlm.nih.gov/pubmed/23629627,http://www.ncbi.nlm.nih.gov/pubmed/11350041,http://www.ncbi.nlm.nih.gov/pubmed/23307870,http://www.ncbi.nlm.nih.gov/pubmed/729003,http://www.ncbi.nlm.nih.gov/pubmed/24183666 | Can RNASeq be used for the analysis of nascent transcripts? | Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues. Here we show that RNA-seq can also be used for studying nascent RNAs undergoing transcription. We utilize nascent RNA sequencing to document dosage compensation during transcriptional elongation. |
http://www.ncbi.nlm.nih.gov/pubmed/24976131,http://www.ncbi.nlm.nih.gov/pubmed/2415514,http://www.ncbi.nlm.nih.gov/pubmed/20729633,http://www.ncbi.nlm.nih.gov/pubmed/18358810,http://www.ncbi.nlm.nih.gov/pubmed/24743386 | Do RNA:DNA hybrids preferentially form in high or low GC regions? | Transcription through a GC-rich region favors R-loop formation, with the nascent (G-rich) RNA forming a stable RNA:DNA hybrid with the template DNA strand. |
http://www.ncbi.nlm.nih.gov/pubmed/22065584,http://www.ncbi.nlm.nih.gov/pubmed/23175609,http://www.ncbi.nlm.nih.gov/pubmed/18426915,http://www.ncbi.nlm.nih.gov/pubmed/16652154,http://www.ncbi.nlm.nih.gov/pubmed/15138591,http://www.ncbi.nlm.nih.gov/pubmed/22303960,http://www.ncbi.nlm.nih.gov/pubmed/22673230,http://www.ncbi.nlm.nih.gov/pubmed/23423380,http://www.ncbi.nlm.nih.gov/pubmed/23264878,http://www.ncbi.nlm.nih.gov/pubmed/23161677 | Which are the most commonly reported pathological states associated with the formation of DNA G-quadruplexes? | There is a growing recognition for the profound role of G-quadruplexes in a wide spectrum of diseases, such as cancer, diabetes and cardiovascular disease. Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) were recently shown to be caused by expansion of a (GGGGCC)n/(GGCCCC)n repeat in the C9ORF72 gene. Treatment with a G-quadruplex interactive ligand was shown to achieve antifibrotic action. G-quadruplex forming sequences have also been linked with ADAM10 a primary candidate for anti-amyloidogenic activity in Alzheimer's. A G-quadruplex-interactive agent, telomestatin (SOT-095), induces telomere shortening with apoptosis and enhances chemosensitivity in acute myeloid leukemia. |
http://www.ncbi.nlm.nih.gov/pubmed/20512118,http://www.ncbi.nlm.nih.gov/pubmed/24055171,http://www.ncbi.nlm.nih.gov/pubmed/20797865 | Are shadow enhancers associated with development? | Yes. Critical developmental control genes sometimes contain shadow enhancers that can be located in remote positions, including the introns of neighboring genes |
http://www.ncbi.nlm.nih.gov/pubmed/18574045,http://www.ncbi.nlm.nih.gov/pubmed/19656644,http://www.ncbi.nlm.nih.gov/pubmed/9430390,http://www.ncbi.nlm.nih.gov/pubmed/11493127,http://www.ncbi.nlm.nih.gov/pubmed/18936332,http://www.ncbi.nlm.nih.gov/pubmed/10597981,http://www.ncbi.nlm.nih.gov/pubmed/22012753,http://www.ncbi.nlm.nih.gov/pubmed/19303267,http://www.ncbi.nlm.nih.gov/pubmed/23953031,http://www.ncbi.nlm.nih.gov/pubmed/14972059,http://www.ncbi.nlm.nih.gov/pubmed/22739999,http://www.ncbi.nlm.nih.gov/pubmed/16401383 | Does prudent diet reduce cardiovascular risk? | a high adherence to prudent diet is associated with reduced risk of CVD. The adherence to prudent diet was associated to a 28% lower risk of cardiovascular mortality and a 17% lower risk of all-cause mortality in a large cohort of healthy women |
http://www.ncbi.nlm.nih.gov/pubmed/14683664,http://www.ncbi.nlm.nih.gov/pubmed/19177167,http://www.ncbi.nlm.nih.gov/pubmed/16059694,http://www.ncbi.nlm.nih.gov/pubmed/61441,http://www.ncbi.nlm.nih.gov/pubmed/23444276 | Is Crohn's disease (CD) linked to the consumption of refrigerated food? | All findings point to refrigeration as a potential risk factor for Crohn's disease. Environmental risk factors playing a causative role in Crohn's Disease (CD) remain largely unknown. Recently, it has been suggested that refrigerated food could be involved in disease development. Patients were exposed earlier than controls to the refrigerator (X2 = 9.9, df = 3, P = 0.04) and refrigerator exposure at birth was found to be a risk factor for CD (OR = 2.08 (95% CI: 1.01-4.29), P = 0.05). Comparable results were obtained looking for the exposure to freezer at home. |
http://www.ncbi.nlm.nih.gov/pubmed/26557901,http://www.ncbi.nlm.nih.gov/pubmed/26084259,http://www.ncbi.nlm.nih.gov/pubmed/25776904,http://www.ncbi.nlm.nih.gov/pubmed/25256052,http://www.ncbi.nlm.nih.gov/pubmed/25230742,http://www.ncbi.nlm.nih.gov/pubmed/25750295 | Which drugs are included in TAS-102? | TAS-102 is a novel oral nucleoside antitumor agent consisting of trifluridine and tipiracil hydrochloride at a molar ratio of 1:0.5. |
http://www.ncbi.nlm.nih.gov/pubmed/22357256 | What is the most probable defect underlying triple negative breast cancer? | The most probable defect underlying triple negative breast cancer is BRCA1 dysfunction. |
http://www.ncbi.nlm.nih.gov/pubmed/19580579,http://www.ncbi.nlm.nih.gov/pubmed/2510913,http://www.ncbi.nlm.nih.gov/pubmed/23849585,http://www.ncbi.nlm.nih.gov/pubmed/15361962,http://www.ncbi.nlm.nih.gov/pubmed/22890734,http://www.ncbi.nlm.nih.gov/pubmed/12362487,http://www.ncbi.nlm.nih.gov/pubmed/11436711,http://www.ncbi.nlm.nih.gov/pubmed/2907699,http://www.ncbi.nlm.nih.gov/pubmed/12500482 | What causes erucism? | Erucism is defined as urtication by Lepidoptera larvae. It is a skin reaction to envenomation from certain poisonous caterpillar bristles. The hair on the dorsum of the last instar larvae of the moth may cause urticarial reactions (erucism) as well as eye problems and temporary blindness. |
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