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Unique fusion of bcr and c-abl genes in Philadelphia chromosome positive acute lymphoblastic leukemia. |
Incidence of subacute sclerosing panencephalitis following measles and measles vaccination in Japan. |
Comparison of the Orpington Prognostic Scale (OPS) and the National Institutes of Health Stroke Scale (NIHSS) for the prediction of the functional status of patients with stroke |
This study illustrates a significant evolutionary step for the MS tools available for characterization of WT proteins from complex proteomes without proteolysis. |
Laboratory diagnosis of schistosomiasis and Katayama syndrome in returning travellers |
The PharmaGist employed algorithm to identify the best pharmacophores by computing multiple flexible alignments between the input ligands. The multiple alignments are generated by combining alignments pair-wise between one of the gliptin input ligands, which acts as pivot and the other gliptin as ligand. The resulting multiple alignments reveal spatial arrangements of consensus features shared by different subsets of input ligands. The best pharmacophore model has been derived using both pair-wise and multiple alignment methods, which have been weighted in Pharmacophore Generation process |
To investigate the molecular effects of growth factor independence 1B (Gfi-1B), a transcription factor essential for the development of hematopoietic cells and differentiation of erythroid and megakaryocytic lineages |
Blount's disease is commonly attributed to an intrinsic, idiopathic defect in the posteromedial proximal tibial physis resulting in progressive bowing of the leg, intoeing, and lateral knee thrust. |
The syndactyly cases were more complicated than the average, among them 4 cases of Apert syndrome were noted. |
BRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk. |
Quest plus NRT offers promise as a new smoking cessation treatment. |
The concept for a reduced-nicotine cigarette designed to progressively wean smokers from the smoking habit is based on research demonstrating that successful smoking cessation is not only dependent on withdrawal of nicotine, but also on weaning from the habitual sensory and behavioral reinforcement of smoking |
Sclerostin, a secreted glycoprotein, regulates osteoblast function. |
CLIC1 expression was obtained in the cytoplasm and plasma membrane of cells in both cell lines. |
Pannexin1 channels traffic to the plasma membrane. |
Behçet disease is a chronic relapsing inflammatory disease affecting many different organs. |
Calcified chronic subdural collection (armoured brain) is a known long-standing complication of shunt overdrainage |
In the present study, we found a marked upregulation of mitochondrial fission protein dynamin-related protein 1 (Drp1) expression in human invasive breast carcinoma and metastases to lymph nodes. |
We report here that the astrogliogenic role of Notch is in part mediated by direct binding of the Notch intracellular domain to the CSL DNA binding protein, forming a transcriptional activation complex onto the astrocyte marker gene, glial fibrillary acidic protein (GFAP). |
SYNGAP1 mouse model of ID/ASD |
The histone H3.3K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression. |
CSEQ-SIMULATOR: A DATA SIMULATOR FOR CLIP-SEQ EXPERIMENTS. |
Chronic wasting disease (CWD) is an evolving prion disease of cervids (deer, elk and moose) that has been recognized in North America and Korea. |
malformations is 3-5%, but it increases to almost 30% in women exposed to isotretinoin during the first trimester of pregnancy. Generally, patients in treatment with isotretinoin avoid eventual pregnancy during assumption and, after its stopping, fertility and foetal development are normal once circulating isotretinoin levels return to normal. |
Thus, near life-long treatment with abaloparatide in rats resulted in dose and time dependent formation of osteosarcomas, with a comparable response to hPTH(1-34) at similar exposure. |
Prior to chromatin condensation, coilin redistributed to the nucleolar compartment and was absent from nuclei where chromatin had begun to condense. |
The isochore, a large DNA sequence with relatively small GC variance, is one of the most important structures in eukaryotic genomes. |
Scarlet fever consists in a diffuse exanthem associated with mucous changes. |
we evaluated the in vivo role of NER in the repair of DNA adducts generated by psoralens (mono- or bi-functional) and UV-A light (PUVA) in E. coli. Cultures of wild-type E. coli K12 and mutants for uvrA, uvrB, uvrC or uvrAC genes were treated with PUVA and cell survival was determined. |
A 12-gene transcriptional 'signature' identified RA patients in the training cohort and predicted the subsequent development of RA among UA patients in the validation cohort (sensitivity 68%, specificity 70%). |
We conclude that CADASIL mutants of NOTCH3 complex with NOTCH1, 3, and 4, slow NOTCH3 clearance, and that overexpressed wild type and mutant NOTCH3 protein interfere with key NOTCH-mediated functions in smooth muscle cells. |
Cardiovascular risk factors, especially hypertension, are also major risk factors for Alzheimer's disease (AD). |
We evaluated the safety and efficacy of sotagliflozin, an oral inhibitor of sodium-glucose cotransporters 1 and 2, in combination with insulin treatment in patients with type 1 diabetes. |
UNLABELLED: ExTopoDB is a publicly accessible database of experimentally derived topological models of transmembrane proteins. |
Romano-Ward syndrome is an autosomal dominant long-QT syndrome (LQTS) that predisposes affected individuals to sudden death from tachyarrhythmias. We investigated the molecular basis of LQTS in a Taiwanese kindred. Clinical and genetic analyses revealed that a mutation was linked to the human ether-a-go-go-related gene (HERG). |
The specific diagnosis of early schistosomiasis and Katayama fever relies essentially on serologic tests or preferably on PCR (if available). |
MER41 repeat sequences contain inducible STAT1 binding sites |
Absorption, distribution, metabolism, and excretion of macitentan, a dual endothelin receptor antagonist, in humans. |
A randomized evaluation of betrixaban, an oral factor Xa inhibitor, for prevention of thromboembolic events after total knee replacement (EXPERT). |
Sacral fractures are generally accompanied by pelvic ring fractures. |
A peptide vaccine, rindopepimut (CDX-110, Celldex Therapeutics), is directed against the novel exon 1-8 junction produced by the EGFRvIII deletion, and it has shown high efficacy in preclinical models |
Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Piebaldism results from mutations of the KIT proto-oncogene, which encodes the cell-surface receptor transmembrane tyrosine kinase for an embryonic growth factor, Steel factor. Several pathologic mutations of the KIT gene have now been identified in different patients with piebaldism. |
Laboratories are increasingly required to perform molecular tests for the detection of mutations in the KRAS gene in metastatic colorectal cancers to allow better clinical management and more effective treatment for these patients. KRAS mutation status predicts a patient's likely response to the monoclonal antibody cetuximab. |
Although it is assumed that miRNA promoters are similar in structure to gene promoters, since both are transcribed by RNA polymerase II (Pol II), computational validations exhibit poor performance of gene promoter prediction methods on miRNAs. |
We performed a randomized, single-blinded placebo-controlled trial testing the effect of ferric carboxymaltose (FCM) in patients with IBD with secondary thrombocytosis (platelets > 450 G/L) |
Familial Mediterranean fever (FMF) is a recessive inherited autoinflammatory syndrome. Patients with FMF have symptoms such as recurrent fever and abdominal pain, sometimes accompanied by arthralgia. Biopsy specimens have revealed substantial neutrophil infiltration into synovia. FMF patients have a mutation in the Mediterranean fever gene, encoding pyrin, |
This study reports on miRNAs implicated in SSRI sensitivity of LCLs. |
There was a significant increase in fibronectin levels in DMD patients compared to age-matched controls. Fibronectin levels in patients with Becker muscular dystrophy, Bethlem myopathy, or myasthenia gravis were comparable to control levels. Progressive elevation in fibronectin levels was observed in longitudinal samples from 22 DMD patients followed up for a period of 6 months up to 4 years |
deubiquitinases CYLD and OTULIN |
We detected a novel association between suicide attempt and the ITIH3/4-region in a combined group of patients with BD, SCZ and related psychosis spectrum disorders. |
Hedgehog genes encode secreted proteins which mediate patterning and growth during skeletal development. |
TRIM5α recognizes the lattice of the retrovirus capsid through its B30.2 (PRY/SPRY) domain in a species-specific manner |
a potent antibiotic used in multidrug regimens for tuberculosis (TB) as well as for infections caused by Mycobacterium avium complex (MAC), |
Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations in the PDS gene. |
The telomerase inhibitor imetelstat alone, and in combination with trastuzumab, decreases the cancer stem cell population and self-renewal of HER2+ breast cancer cells. |
The most advanced of these strategies is the so-called 'metal protein attenuating compound' approach, with the lead molecule PBT2 having successfully completed early phase clinical trials. |
Immune check-point inhibitors are now employed as single-agents in current practice for the treatment of advanced non-small cell lung cancer (NSCLC), while combinations of different inhibitors are being evaluated in clinical trials. |
The Hippo signaling pathway converges on YAP to regulate growth, differentiation, and regeneration. |
We demonstrate that Phe50 (motif I) and Glu74 (motif II) are important for AdoMet binding and catalysis. D96A (motif III) showed reduced AdoMet binding but increased activity under conditions of saturation with S-adenosyl-L-methionine (AdoMet), indicating that the contact of Asp96 to AdoMet is not required for catalysis. |
An increased risk of new onset treated diabetes was found in those treated with statins showing significant duration and dose effect |
Elevated levels of ATF4 were sufficient to suppress expression of these proteins and drive oncogenic transformation. |
Gastrointestinal bleeding and aortic stenosis (Heyde syndrome): the role of aortic valve replacement. |
The FA genes code for proteins that act in complexes to coordinate the repair of damaged DNA |
All DNA (cytosine-5)-methyltransferases contain a single conserved cysteine. It has been proposed that this cysteine initiates catalysis by attacking the C6 of cytosine and thereby activating the normally inert C5 position. |
pausing factor DSIF (DRB sensitivity-inducing factor) |
Consistent with previous reports, quantitative FISH analysis showed an accelerated telomere shortening of 0.68 kb in FA, which occurred concurrently in both chromosome arms in a similar magnitude |
Lesch-Nyhan Disease (LND) is the result of mutations in the X-linked gene encoding the purine metabolic enzyme, hypoxanthine guanine phosphoribosyl transferase (HPRT) |
[Outbreak of viral meningitis caused by echovirus type 4 in Misiones province]. |
A reverse vaccinology approach for the identification of potential vaccine candidates from Leishmania spp |
Using this system, we also investigated two hypotheses that have been proposed to explain transcription-associated mutagenesis (TAM): (1) transcription impairs replication fork progression in a directional manner and (2) DNA lesions accumulate under high-transcription conditions. |
Moreover, in families of breast cancer patients without BRCA mutations, breast cancer risk depends on the patient's age at diagnosis. |
Dialectical behavior therapy (DBT) was originally designed as a treatment of emotionally dysregulated, impulsive, and dramatic disorders (e.g., borderline personality disorder) and populations (e.g., parasuicidal women). |
The protocol presented allows preoperative planning and single-stage operation for complete release of syndactyly in patients with Apert syndrome. |
Calcium-calmodulin-dependent protein kinase II (CaMKII) has emerged as a central mediator of cardiac stress responses which may serve several critical roles in the regulation of cardiac rhythm, cardiac contractility and growth. Sustained and excessive activation of CaMKII during cardiac disease has, however, been linked to arrhythmias, and maladaptive cardiac remodeling, eventually leading to heart failure (HF) and sudden cardiac death. |
The number and position of the pseudouridines of Haloarcula marismortui and Deinococcus radiodurans large subunit RNA have been determined by a combination of total nucleoside analysis by HPLC-mass spectrometry and pseudouridine sequencing by the reverse transcriptase method and by LC/MS/MS. |
We hypothesize that treatment with RP-1127 (Glyburide for Injection) reduces formation of brain edema in patients after large anterior circulation infarction. |
Aptamers specific for a number of cellular and viral proteins have been documented previously; one aptamer (Macugen) is approved for clinical use and several others are in clinical trials. |
B-type lamins are present in almost all cell types, but A-type lamins are expressed predominantly in differentiated cells, suggesting a role in maintenance of the differentiated state |
MicroRNA-21 contributes to myocardial disease by stimulating MAP kinase signalling in fibroblasts. |
OBJECTIVE: To assess the 1-year safety profile of the dopaminergic stabilizer pridopidine in patients with Huntington disease. |
ERAP1-ERAP2 dimerization increases peptide-trimming efficiency |
A marked decrease in heart rate variability in Marfan syndrome patients with confirmed FBN1 mutations. |
A TALEN genome-editing system for generating human stem cell-based disease models. |
high throughput sequencing is rapidly becoming common practice in clinical diagnosis and cancer research many algorithms have been developed for somatic single nucleotide variant snv detection in matched tumor normal dna sequencing although numerous studies have compared the performance of various algorithms on exome data there has not yet been a systematic evaluation using pcr enriched amplicon data with a range of variant allele fractions the recently developed gold standard variant set for the reference individual na12878 by the nist led genome in a bottle consortium nist giab provides a good resource to evaluate admixtures with various snv fractions using the nist giab gold standard we compared the performance of five popular somatic snv calling algorithms gatk unifiedgenotyper followed by simple subtraction mutect strelka somaticsniper and varscan2 for matched tumor normal amplicon and exome sequencing data we demonstrated that the five commonly used somatic snv calling methods are applicable to both targeted amplicon and exome sequencing data however the sensitivities of these methods vary based on the allelic fraction of the mutation in the tumor sample our analysis can assist researchers in choosing a somatic snv calling method suitable for their specific needs. |
sudden unexpected death in epilepsy (SUDEP) |
K201 (JTV519) is a 1,4-benzothiazepine derivative that exhibits a strong cardioprotective action and acts as a multiple-channel blocker, including as a K+ channel blocker. |
Over the past 2 decades, there have been numerous stem cell studies focused on cardiac diseases, ranging from proof-of-concept to phase 2 trials. This series of papers focuses on the legacy of these studies and the outlook for future treatment of cardiac diseases with stem cell therapies. |
A naked mtDNA molecule is longer than a typical mitochondrion and is therefore compacted in vivo to form a nucleoprotein complex, denoted the mitochondrial nucleoid. |
Sarcolipin (SLN) is a key regulator of sarco(endo)plasmic reticulum (SR) Ca(2+)-ATPase (SERCA), and its expression is altered in diseased atrial myocardium. |
Our results suggest that enhancer adoption caused by deletions of regulatory boundaries may contribute to a substantial minority of copy-number variation phenotypes and should thus be taken into account in their medical interpretation |
Genomic imprinting at the H19/Igf2 locus is governed by a cis-acting Imprinting-Control Region (ICR), located 2 kb upstream of the H19 gene. |
The TFBSshape database can be used to generate heat maps and quantitative data for DNA structural features (i.e., minor groove width, roll, propeller twist and helix twist) for 739 TF datasets from 23 different species derived from the motif databases JASPAR and UniPROBE. As demonstrated for the basic helix-loop-helix and homeodomain TF families, our TFBSshape database can be used to compare, qualitatively and quantitatively, the DNA binding specificities of closely related TFs and, thus, uncover differential DNA binding specificities that are not apparent from nucleotide sequence alone. |
Notably, strains harboring the 450 kb chromosome XII variant and/or the 1500 kb variant consisting solely of rDNA had shorter life spans than wild type and also accumulated extrachromosomal rDNA circles |
here is insufficient evidence to favour excisional surgery over ablative surgery with respect to the chance of pregnancy after controlled ovarian stimulation and intra-uterine insemination (OR 1.40 CI 0.47-4.15) . |
Arabidopsis cmt3 chromomethylase mutations block non-CG methylation and silencing of an endogenous gene. |
A cross-sectional descriptive and analytical study was conducted among 633 TUMS Clinical Laboratory Sciences' Students and Hospitals' Clinical Laboratories' Employees to detect color-blindness problems by Ishihara Test. |
alpha-Synuclein is a presynaptic protein recently identified as a specific component of Lewy bodies (LB) and Lewy neurites. |
The aporphine alkaloids (+)-dicentrine and (+)-bulbocapnine are non-planar molecules lacking features normally associated with DNA binding by intercalation or minor groove binding. Surprisingly, dicentrine showed significant activity as a topoisomerase II (EC 5.99.1.3) inhibitor and also was active in a DNA unwinding assay. |
Transcription of potato spindle tuber viroid by RNA polymerase II starts in the left terminal loop |
Tocilizumab is a promising treatment of giant cell arteritis but controlled trials are needed to confirm its efficacy. |
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