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Our results indicate that mutational analysis of the RET proto-oncogene is not only suitable to identify and subtype MEN 2 gene carriers using blood DNA but also to distinguish sporadic from inherited medullary thyroid carcinomas and phenochromocytomas analyzing DNA extracted from archival tissue specimens.
|
NA
|
{
"id": 5979,
"name": "RET",
"pos": [
53,
18
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
177,
8
]
}
|
Therefore, mutation T688C most likely causes rare structural and/or functional abnormalities in UMOD/Tamm-Horsfall protein.
|
NA
|
{
"id": 7369,
"name": "UMOD",
"pos": [
96,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
79,
13
]
}
|
We analysed neurotrophin receptor (NTR) expression of neuroblastoma cells by surface biotinylation assays and applied recombinant nerve growth factor (NGF), brain-derived neurotrophic factor, neurotrophin-3 and neurotrophin-4/5 to these cell lines assessing their survival and proliferation in long-term assays lasting 6 days.
|
NA
|
{
"id": 4923,
"name": "NTSR1",
"pos": [
35,
3
]
}
|
{
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
54,
13
]
}
|
Thus, we conducted a case-control study including 1064 breast cancer cases and 1073 cancer-free controls to evaluate the associations of 28 potentially functional polymorphisms in 12 core ARSs genes (AARS, CARS, EPRS, HARS, KARS, LARS, MARS, QARS, RARS, VARS, WARS, and YARS) with breast cancer risk.
|
NA
|
{
"id": 2058,
"name": "EPRS1",
"pos": [
212,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
281,
13
]
}
|
Leukodystrophy with vanishing white matter (VWM) is a neurodegenerative disorder with autosomal recessive traits that is caused by alteration of the eukaryotic translation initiation factor-2B (EIF2B).
|
genomic_alterations
|
{
"id": 8892,
"name": "EIF2B2",
"pos": [
194,
5
]
}
|
{
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
54,
26
]
}
|
Conditional analyses within loci showed that four loci, including GBA, GAK-DGKQ, SNCA and the HLA region, contain a secondary independent risk variant.
|
NA
|
{
"id": 1609,
"name": "DGKQ",
"pos": [
75,
4
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
116,
9
]
}
|
We found that constitutive BRAF pathway activation in BRAF(Nav1.8) mice results in ectopic and enhanced expression of a cohort of itch-sensing genes, including gastrin-releasing peptide (GRP) and MAS-related GPCR member A3 (MRGPRA3), in nociceptors expressing transient receptor potential vanilloid 1 (TRPV1).
|
NA
|
{
"id": 673,
"name": "BRAF",
"pos": [
54,
4
]
}
|
{
"id": "C0033774",
"name": "Pruritus",
"pos": [
130,
4
]
}
|
Mutation of both NPM1 and FLT3-ITD or TKD (17 cases, p < 0.001) was strongly correlated with the cup-like nuclear morphology.
|
NA
|
{
"id": 4869,
"name": "NPM1",
"pos": [
17,
4
]
}
|
{
"id": "C0220647",
"name": "Carcinoma of unknown primary",
"pos": [
97,
3
]
}
|
Lynch syndrome is an inherited tumor predisposition syndrome caused by germline mutations of DNA mismatch repair (MMR) genes, mainly MLH1 and MSH2.
|
NA
|
{
"id": 4292,
"name": "MLH1",
"pos": [
133,
4
]
}
|
{
"id": "C3280492",
"name": "TUMOR PREDISPOSITION SYNDROME",
"pos": [
31,
29
]
}
|
Mutations in KIT are frequently found, while BRAF and NRAS mutations are rarely found - except in conjunctival melanomas that carry BRAF mutations.
|
genomic_alterations
|
{
"id": 4893,
"name": "NRAS",
"pos": [
54,
4
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
111,
9
]
}
|
We evaluated the expression of DNA repair proteins, redox factor-1 (Ref-1) and X-ray repair cross-complementing protein 1 (XRCC1), relevant to neurodegeneration following kainic acid-induced seizures in rats.
|
NA
|
{
"id": 7515,
"name": "XRCC1",
"pos": [
123,
5
]
}
|
{
"id": "C0036572",
"name": "Seizures",
"pos": [
191,
8
]
}
|
Tsg6/tnfip6 transgenic mice constitutively expressed tsg6/tnfip6 messenger RNA and corresponding TSG-6 protein in cartilage from embryonic life through adulthood, without any phenotypic abnormalities.
|
NA
|
{
"id": 7130,
"name": "TNFAIP6",
"pos": [
97,
5
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
186,
13
]
}
|
In the context of Total Therapy 2, a tandem transplant trial for newly diagnosed myeloma, comprehensive information was available in 220 patients on standard prognostic factors (SPF), magnetic resonance imaging (MRI)-defined focal lesions, cytogenetic abnormalities (CA), fluorescence-in-situ-hybridisation (FISH)-derived amplification of chromosome 1q21 (amp1q21) and deletion of 13q14, as well as gene expression profiling (GEP).
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
212,
3
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
240,
25
]
}
|
The costs and benefits of AAT replacement therapy were evaluated for patients with congenital COPD.
|
genomic_alterations
|
{
"id": 5265,
"name": "SERPINA1",
"pos": [
26,
3
]
}
|
{
"id": "C0024117",
"name": "Chronic Obstructive Airway Disease",
"pos": [
94,
4
]
}
|
Other mutations in the JAK-STAT signalling cascade are reviewed, including JAK2 exon 12, myeloproliferative leukemia virus oncogene, LNK (also known as SH2B3) mutations, and epigenetic changes in ten-eleven-translocation-2 (TET2), additional sex combs like 1 (ASXL1), PcG enhancer of zeste homolog 2 (EZH2) and DNA methyltransferase 3A (DNMT3A).
|
NA
|
{
"id": 10019,
"name": "SH2B3",
"pos": [
152,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
207,
13
]
}
|
We previously showed that the preservation of neural adhesion molecule (NCAM) in differentiated thyroid carcinoma is an important indicator for a higher risk of distant metastasis.
|
biomarker
|
{
"id": 27255,
"name": "CNTN6",
"pos": [
46,
24
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
169,
10
]
}
|
APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.
|
genomic_alterations
|
{
"id": 4595,
"name": "MUTYH",
"pos": [
7,
5
]
}
|
{
"id": "C0001430",
"name": "Adenoma",
"pos": [
149,
8
]
}
|
The expression of Beclin 1 and LC3 may have prognostic significance in early stage cervical squamous cell carcinoma.
|
NA
|
{
"id": 84557,
"name": "MAP1LC3A",
"pos": [
31,
3
]
}
|
{
"id": "C0279671",
"name": "Cervical Squamous Cell Carcinoma",
"pos": [
83,
32
]
}
|
However, supportive evidence is limited to the effect of HER-2/neu that stimulates prostate cancer progression through activation of the androgen receptor.
|
therapeutic
|
{
"id": 367,
"name": "AR",
"pos": [
137,
17
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
83,
15
]
}
|
So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive forms of HSAN (WNK1/HSN2, NTRK1, NGFB, CCT5 and IKBKAP).
|
genomic_alterations
|
{
"id": 7879,
"name": "RAB7A",
"pos": [
119,
4
]
}
|
{
"id": "C0027889",
"name": "Hereditary Sensory and Autonomic Neuropathies",
"pos": [
173,
4
]
}
|
The molecular pathology of both sporadic and TT-induced HA is characterized by a high rate of K-ras-2 mutations characteristic of oxidative damage (ie, G:C > A:T and G:C > T:A mutations) resulting in two mutated population sets: codon 12 GGT > GAT and GGT > TGT (glycine to aspartic acid and cysteine).
|
NA
|
{
"id": 10249,
"name": "GLYAT",
"pos": [
244,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
32,
8
]
}
|
RNA profiling of 314 colorectal adenomas/adenocarcinomas and 292 adjacent normal colon mucosa samples using RNA-sequencing demonstrated that the snoRNA host gene 16 (SNHG16) is significantly up-regulated in adenomas and all stages of CRC.
|
biomarker
|
{
"id": 85391,
"name": "SNORD14E",
"pos": [
145,
6
]
}
|
{
"id": "C1302401",
"name": "Adenoma of large intestine",
"pos": [
21,
19
]
}
|
CD24 is a genetic modifier for risk and progression of prostate cancer.
|
biomarker
|
{
"id": 100133941,
"name": "CD24",
"pos": [
0,
4
]
}
|
{
"id": "C1739135",
"name": "Progression of prostate cancer",
"pos": [
40,
30
]
}
|
In this study 150 men from couples requesting ICSI were investigated for genetic abnormalities, such as constitutive chromosome abnormalities, microdeletions of the Y chromosome (AZF region) and mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
|
NA
|
{
"id": 1080,
"name": "CFTR",
"pos": [
265,
4
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
117,
24
]
}
|
This hypoxia-regulated, retinal glial cell-specific AAV vector provides a platform for gene therapy within regions of retinal hypoxia which are found in diabetic retinopathy and age-related macular degeneration.
|
NA
|
{
"id": 17,
"name": "AAVS1",
"pos": [
52,
3
]
}
|
{
"id": "C0011884",
"name": "Diabetic Retinopathy",
"pos": [
153,
20
]
}
|
In contrast, inheritance of the CYP2A6*2 (OR = 0.51, 95% CI 0.28-1.06), CYP2C19*2 (OR = 0.72, 95% CI 0.52-0.98) and the EPHX1(His113) alleles were associated with reduced cancer risk.
|
genomic_alterations
|
{
"id": 1557,
"name": "CYP2C19",
"pos": [
72,
7
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
171,
6
]
}
|
Polycystic CD133+ cells, in contrast to normal renal CD133+ cells, formed cysts in vitro in a three-dimensional culture system and in vivo when injected subcutaneously within Matrigel in SCID mice.
|
NA
|
{
"id": 8842,
"name": "PROM1",
"pos": [
53,
5
]
}
|
{
"id": "C0010709",
"name": "Cyst",
"pos": [
74,
5
]
}
|
Exposure of these cells to saturating concentrations of EGF results in a decreased membrane localization of ERKs, a concomitant dissociation of ERKs from the EGFR, and restores ERK activation.
|
NA
|
{
"id": 1956,
"name": "EGFR",
"pos": [
158,
4
]
}
|
{
"id": "C0086168",
"name": "Dissociation",
"pos": [
128,
12
]
}
|
To determine whether the different distribution of AAT globules within neoplastic and non-neoplastic hepatocytes is the result of a self-induced correction of the genetic defect.
|
NA
|
{
"id": 5265,
"name": "SERPINA1",
"pos": [
51,
3
]
}
|
{
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
86,
14
]
}
|
Genetic variation in the NOC gene is associated with body mass index in Chinese subjects.
|
NA
|
{
"id": 25819,
"name": "NOCT",
"pos": [
25,
3
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
53,
15
]
}
|
We used log-linear modeling to analyze the association of CYP1A1 gene polymorphism with the risk of preterm delivery.
|
NA
|
{
"id": 1543,
"name": "CYP1A1",
"pos": [
58,
11
]
}
|
{
"id": "C0151526",
"name": "Premature Birth",
"pos": [
100,
16
]
}
|
This trait is most probably not associated with mutations in the two major hereditary breast cancer genes since no cases of enchondroma or chondrosarcoma were found in Dutch BRCA1 and BRCA2 families.
|
NA
|
{
"id": 672,
"name": "BRCA1",
"pos": [
174,
5
]
}
|
{
"id": "C0008479",
"name": "Chondrosarcoma",
"pos": [
139,
14
]
}
|
To characterize and compare primary and restenotic lesions of the superficial femoral artery and analyze the contribution of TGF-beta/Smad3 signaling to the pathophysiology of peripheral artery occlusive disease.
|
NA
|
{
"id": 4088,
"name": "SMAD3",
"pos": [
134,
5
]
}
|
{
"id": "C1306889",
"name": "Peripheral arterial occlusive disease",
"pos": [
176,
35
]
}
|
We show in this study that 17 of 18 HIV-1-infected asymptomatic patients have circulating frequencies of 1/50-1/1000 CD8+ T cells that recognize both Gag and Pol CTL epitopes or either epitope alone.
|
NA
|
{
"id": 925,
"name": "CD8A",
"pos": [
117,
3
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
51,
12
]
}
|
TPH2 -703 T-carrier genotype (i.e., TT homozygotes and heterozygotes), presence of maternal stress and depressive symptoms, and a combination of the T-carrier genotype and maternal depressive symptoms were associated with a relatively greater difficulty disengaging attention from fearful facial expressions.
|
NA
|
{
"id": 6999,
"name": "TDO2",
"pos": [
0,
4
]
}
|
{
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
181,
19
]
}
|
Patients with initially diagnosed stage IV EGFR-mutant lung adenocarcinoma were included.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
43,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
55,
19
]
}
|
In this review we discuss the regulation of expression, localization and activation of LOX in the normal developing and adult skin, and alterations in LOX expression and activity associated with skin aging and senescence, and in pathological conditions, including wound healing, fibrosis, hypertrophic scarring, keloids, scleroderma, and diabetic skin.
|
NA
|
{
"id": 4015,
"name": "LOX",
"pos": [
151,
3
]
}
|
{
"id": "C0022548",
"name": "Keloid",
"pos": [
312,
7
]
}
|
We report a case of a 13-year-old boy with cutaneous CCS who presented with a few months history of an asymptomatic papule on the lower lip that was suggestive of a mucocele.
|
NA
|
{
"id": 9973,
"name": "CCS",
"pos": [
53,
3
]
}
|
{
"id": "C0332563",
"name": "Papule",
"pos": [
116,
6
]
}
|
CD28 and CTLA-4 have been shown to be involved as an important costimulatory signal in the regulation of allergic inflammation and TH2 cytokine production, and thus both genes are good candidate genes for asthma and atopy.
|
NA
|
{
"id": 1493,
"name": "CTLA4",
"pos": [
9,
6
]
}
|
{
"id": "C0392707",
"name": "Atopy",
"pos": [
216,
5
]
}
|
Contact data is frequently collected in outbreaks of pathogens spread by close contact, including Ebola virus (EBOV), severe acute respiratory syndrome coronavirus (SARS-CoV) and Mycobacterium tuberculosis (TB), and routinely used to reconstruct transmission chains.
|
genomic_alterations
|
{
"id": 54938,
"name": "SARS2",
"pos": [
165,
4
]
}
|
{
"id": "C1175175",
"name": "Severe Acute Respiratory Syndrome",
"pos": [
118,
33
]
}
|
Older MG(+)-fed mice, similar to old Reg controls, developed MS, increased brain amyloid-β42, deposits of AGEs, gliosis, and cognitive deficits, accompanied by suppressed SIRT1, nicotinamide phosphoribosyltransferase, AGE receptor 1, and PPARγ.
|
NA
|
{
"id": 10135,
"name": "NAMPT",
"pos": [
178,
38
]
}
|
{
"id": "C0009241",
"name": "Cognition Disorders",
"pos": [
125,
18
]
}
|
The prevalance of the wild-type NS5A-PKR strain is significantly higher in HCC than in CAH.
|
biomarker
|
{
"id": 5610,
"name": "EIF2AK2",
"pos": [
37,
3
]
}
|
{
"id": "C0520463",
"name": "Chronic active hepatitis",
"pos": [
87,
3
]
}
|
Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other related megalencephaly syndromes.
|
genomic_alterations
|
{
"id": 5296,
"name": "PIK3R2",
"pos": [
98,
6
]
}
|
{
"id": "C2720434",
"name": "Macroencephaly",
"pos": [
185,
14
]
}
|
Cisplatin-induced ototoxicity in pediatric solid tumors: the role of glutathione S-transferases and megalin genetic polymorphisms.
|
NA
|
{
"id": 4036,
"name": "LRP2",
"pos": [
100,
7
]
}
|
{
"id": "C0235280",
"name": "Ototoxicity",
"pos": [
18,
11
]
}
|
A behavioural phenotype, impaired motor performance and tremor, developed in middle-aged Mag null mice, independent of Abcd1 genotype.
|
NA
|
{
"id": 215,
"name": "ABCD1",
"pos": [
119,
5
]
}
|
{
"id": "C0040822",
"name": "Tremor",
"pos": [
56,
6
]
}
|
To determine the cause of deafness in four consanguineous families segregating recessive deafness linked to markers on chromosome 6p21.1-p22.3 defining a novel DFNB locus.
|
NA
|
{
"id": 11261,
"name": "CHP1",
"pos": [
137,
3
]
}
|
{
"id": "C0011053",
"name": "Deafness",
"pos": [
89,
8
]
}
|
In a multivariable regression model, age and P100 latency were significant parameters for affecting AA in patients with MS (<i>p</i> < .001 and <i>p</i> = .001).
|
biomarker
|
{
"id": 27044,
"name": "SND1",
"pos": [
45,
4
]
}
|
{
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
120,
2
]
}
|
It appears that variants of the transcriptional coactivator genes (EP300 and PCAF) may influence HCC risk in populations with low mutations or chromosomal instability rates.
|
NA
|
{
"id": 2033,
"name": "EP300",
"pos": [
67,
5
]
}
|
{
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
143,
23
]
}
|
The relative mean level of TERT mRNA after normalization with the β-actin reference gene and comparison with the respective adjacent normal mucosa was slightly increased in the IM and GU groups, 2.008 ± 2.605 and 2.730 ± 4.120, respectively, but high TERT mRNA expression was observed in the GC group (17.271 ± 33.852).
|
biomarker
|
{
"id": 60,
"name": "ACTB",
"pos": [
66,
7
]
}
|
{
"id": "C0038358",
"name": "Gastric ulcer",
"pos": [
184,
2
]
}
|
The TNF(-488)A and LTA(IVS1-82)C variants, constituents of the AGG and GAC haplotypes respectively, were also strongly associated with increased risk of spontaneous preterm birth.
|
NA
|
{
"id": 4049,
"name": "LTA",
"pos": [
19,
3
]
}
|
{
"id": "C3827961",
"name": "Spontaneous Preterm Birth",
"pos": [
153,
25
]
}
|
SOCS3, but not SOCS2, was also upregulated in a chronic eosinophilic leukemia bearing PCM1-JAK2, highlighting its role as a central signalling target of JAK2 translocation neoplasia.
|
NA
|
{
"id": 3717,
"name": "JAK2",
"pos": [
153,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
158,
13
]
}
|
The hepatomegaly, white blood cell count, ECOG PS, serum level of lactate dehydrogenase, dysplastic changes, coexpression of CD64, CD15, CD11b, comorbidities and disease cytogenetics influenced survival.
|
NA
|
{
"id": 2209,
"name": "FCGR1A",
"pos": [
125,
4
]
}
|
{
"id": "C0019209",
"name": "Hepatomegaly",
"pos": [
4,
12
]
}
|
ROS accelerated the activation of nuclear factor-kappa B (NF-κB) to promote transcriptional activity of Bax, an action that was accompanied by cytochrome c translocation and apoptosis-inducing factor (AIF) release.
|
NA
|
{
"id": 54205,
"name": "CYCS",
"pos": [
143,
12
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
156,
13
]
}
|
DNA vaccination for cervical cancer: Strategic optimisation of RALA mediated gene delivery from a biodegradable microneedle system.
|
genomic_alterations
|
{
"id": 5898,
"name": "RALA",
"pos": [
63,
4
]
}
|
{
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
20,
15
]
}
|
These findings unveil a new atheroprotective action of p27 and identify p27-phospho-Ser10 as an attractive target for the treatment of atherosclerosis.
|
biomarker
|
{
"id": 115482696,
"name": "H3P23",
"pos": [
55,
3
]
}
|
{
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
135,
15
]
}
|
The ALK 1 staining was confirmed by fluorescence in situ hybridisation, with translocation of the ALK gene present in 15-60% tumour cells in four of six IMFT examined, but not in four cases of sarcomatoid carcinoma or three of leiomyosarcoma.
|
NA
|
{
"id": 238,
"name": "ALK",
"pos": [
98,
8
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
77,
13
]
}
|
Herein, we investigated by array-CGH analysis a 11-year-old female patient and her father, both exhibiting the typical SRS phenotype, disclosing in the daughter-father couple the same microduplication of chromosome 9q22.32q22.33 [arr[hg19]9q22.32(98,049,611_98,049,636)x3,9q22.33 (99,301,483_99,301,508)x3], involving eight genes, including PTCH1.
|
genomic_alterations
|
{
"id": 5727,
"name": "PTCH1",
"pos": [
341,
5
]
}
|
{
"id": "C0175693",
"name": "Russell-Silver syndrome",
"pos": [
119,
3
]
}
|
Correlations between SPARC with adiponectin, systolic blood pressure and TG were marginally significant in partial Spearman correlation analysis.
|
NA
|
{
"id": 6678,
"name": "SPARC",
"pos": [
21,
5
]
}
|
{
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
45,
23
]
}
|
Mutations of COL2A1, COL9A2, COL10, and FGFR3 have been reported previously in the Strudwick type of SEMD, multiple epiphyseal dysplasia type 2 (EDM2), the Schmid type of metaphyseal dysplasia, and in achondroplasia, respectively, and the pseudoachondroplasia (PSACH) locus has been mapped to chromosome 19p12.
|
NA
|
{
"id": 10371,
"name": "SEMA3A",
"pos": [
102,
4
]
}
|
{
"id": "C0001080",
"name": "Achondroplasia",
"pos": [
202,
14
]
}
|
We conclude that the use of continuous anticoagulant prophylaxis seems not warranted in asymptomatic individuals with a deficiency of antithrombin, protein C, or protein S. During risk periods for venous thromboembolism, adequate anticoagulant prophylaxis is necessary.
|
NA
|
{
"id": 5624,
"name": "PROC",
"pos": [
148,
9
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
88,
12
]
}
|
DNA methylation of RAR-beta was identified in one of 10 samples of corresponding non-neoplastic mucosa (10.0%), whereas no DNA methylation of CRBP1 or TIG1 was detected.
|
NA
|
{
"id": 5947,
"name": "RBP1",
"pos": [
142,
5
]
}
|
{
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
81,
14
]
}
|
Our data clearly reflect such tumor promotion, showing that deregulation of key proteins involved in apoptosis (BCL2-related protein A1 and Fas apoptotic inhibitory molecule), cell cycle checkpoints (AKIP, SCYL1, and NIN), and metastasis (matrix metalloproteinase 1) is closely correlated with the levels of EBV gene expression in NPC.
|
NA
|
{
"id": 597,
"name": "BCL2A1",
"pos": [
112,
23
]
}
|
{
"id": "C1519689",
"name": "Tumor Promotion",
"pos": [
30,
15
]
}
|
An effect of the IL2RA and CD58 loci was shown in multiplex families as in sporadic MS.
|
NA
|
{
"id": 3559,
"name": "IL2RA",
"pos": [
17,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
75,
8
]
}
|
Furthermore, results showed that alantolactone could activate p38 MAPK pathway and suppress NF-κB pathway, which are involving in lung cancer development.
|
biomarker
|
{
"id": 7965,
"name": "AIMP2",
"pos": [
62,
3
]
}
|
{
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
130,
11
]
}
|
The findings implied that PIK3CA may be a putative oncogene involved in the tumorigenesis of NPC.
|
NA
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
26,
6
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
76,
13
]
}
|
While spinal rigidity is a nonspecific feature, found in Emery-Dreifuss muscular dystrophy and in some congenital myopathies, it is also a prominent feature in a group of patients with merosin-positive congenital muscular dystrophy, where it is generally associated with stable or only slowly progressive weakness and early respiratory insufficiency.
|
NA
|
{
"id": 3908,
"name": "LAMA2",
"pos": [
202,
29
]
}
|
{
"id": "C0270960",
"name": "Congenital myopathy (disorder)",
"pos": [
103,
21
]
}
|
Tissue microarray of lung adenocarcinoma with known EGFR mutation status was used as reference.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
52,
4
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
18,
22
]
}
|
In this study, we show that blood isolates, which are exposed to CRP and PCho-specific antibodies in the bloodstream, have a higher survival in serum than oropharyngeal isolates, which was associated with a decreased presence of PCho.
|
biomarker
|
{
"id": 1401,
"name": "CRP",
"pos": [
65,
3
]
}
|
{
"id": "C0553694",
"name": "Oropharyngeal disorders",
"pos": [
155,
13
]
}
|
Because blood conservation is a pressing issue in cardiac surgery, we tested the hypothesis that factor V Leiden (FVL), a common coagulation factor polymorphism, may protect against blood loss and transfusion in patients undergoing cardiac surgery.
|
NA
|
{
"id": 2153,
"name": "F5",
"pos": [
97,
15
]
}
|
{
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
182,
10
]
}
|
The cellular distribution of fractalkine and CX3CR1 in the spinal circuit associated with nociceptive transmission supports a potential role in the mechanisms that contribute to the exaggerated pain state in these models of neuropathy.
|
NA
|
{
"id": 1524,
"name": "CX3CR1",
"pos": [
45,
6
]
}
|
{
"id": "C0442874",
"name": "Neuropathy",
"pos": [
224,
10
]
}
|
In the current study, 31% of patients with sporadic ALS carried a mutation in the Hfe gene, compared to only 14% of patients without identifiable neuromuscular disease, or with neuromuscular diseases other than ALS (p<0.005).
|
NA
|
{
"id": 3077,
"name": "HFE",
"pos": [
82,
8
]
}
|
{
"id": "C0027868",
"name": "Neuromuscular Diseases",
"pos": [
177,
22
]
}
|
CEA but not CA19-9 is an independent prognostic factor in patients undergoing resection of cholangiocarcinoma.
|
biomarker
|
{
"id": 1084,
"name": "CEACAM3",
"pos": [
0,
3
]
}
|
{
"id": "C0206698",
"name": "Cholangiocarcinoma",
"pos": [
91,
18
]
}
|
HCAs have been divided into four subtypes based on molecular and pathological features: hepatocyte nuclear factor 1α-mutated HCA, inflammatory HCA, β-catenin-mutated HCA, and unclassified HCA.
|
genomic_alterations
|
{
"id": 6927,
"name": "HNF1A",
"pos": [
88,
28
]
}
|
{
"id": "C0206669",
"name": "Hepatocellular Adenoma",
"pos": [
125,
3
]
}
|
Similar to hyperglycemia, NDPKB deficiency induced Ang2 expression and protein GlcNAcylation that were not further altered in the diabetic retinas.
|
NA
|
{
"id": 4831,
"name": "NME2",
"pos": [
26,
5
]
}
|
{
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
11,
13
]
}
|
Multivariate logistic regression analysis showed that the ACE DD genotype was a risk factor for T2DM, with the OR of 2.35 (95% CI 1.17-4.71) adjusted for age, sex, BMI, WHR, blood pressure, and serum cholesterol levels.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
58,
3
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
174,
14
]
}
|
Primary HLH includes PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST, SH2D1A and XIAP gene mutations; and secondary HLH is associated with infections, malignancies and autoimmune diseases.
|
NA
|
{
"id": 201294,
"name": "UNC13D",
"pos": [
27,
6
]
}
|
{
"id": "C0004364",
"name": "Autoimmune Diseases",
"pos": [
162,
19
]
}
|
IL-27 could prolong eosinophil survival by reducing apoptosis, modulate the expression of adhesion molecules to facilitate eosinophil adhesion and accumulation, and induce the release of proinflammatory cytokines IL-6, tumor necrosis factor-α, IL-1β and chemokines CCL2, CXCL8 and CXCL1.
|
NA
|
{
"id": 3569,
"name": "IL6",
"pos": [
213,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
134,
8
]
}
|
These findings are consistent with a common mutation in the PCFT gene causing HFM that has disseminated to Puerto Ricans who have migrated to mainland United States.
|
genomic_alterations
|
{
"id": 113235,
"name": "SLC46A1",
"pos": [
60,
4
]
}
|
{
"id": "C3495417",
"name": "Hemifacial microsomia",
"pos": [
78,
3
]
}
|
In an attempt to clarify the frontier between these two entities, we have characterized cardiac conduction defect and its evolution with aging in a cohort of 78 patients carrying a SCN5A mutation linked to Brugada syndrome.
|
NA
|
{
"id": 6331,
"name": "SCN5A",
"pos": [
181,
5
]
}
|
{
"id": "C4318382",
"name": "Cardiac Conduction Defects",
"pos": [
88,
25
]
}
|
The ras p21 expression was observed in 24% of pleomorphic adenomas, and in 50% of carcinomas in pleomorphic adenoma.
|
NA
|
{
"id": 1026,
"name": "CDKN1A",
"pos": [
8,
3
]
}
|
{
"id": "C0026277",
"name": "Mixed Salivary Gland Tumor",
"pos": [
96,
19
]
}
|
Interleukin 17A and interleukin 17F polymorphisms are associated with oral squamous cell carcinoma susceptibility in a Chinese population.
|
genomic_alterations
|
{
"id": 112744,
"name": "IL17F",
"pos": [
20,
15
]
}
|
{
"id": "C0007137",
"name": "Squamous cell carcinoma",
"pos": [
75,
23
]
}
|
In 2005 the commonality of sarcotubular myopathy (STM) and limb girdle muscular dystrophy type 2H (LGMD2H) was demonstrated, as both are caused by the p D487N missense mutation in TRIM32 originally found in the Manitoba Hutterite population.
|
NA
|
{
"id": 6818,
"name": "SULT1A3",
"pos": [
50,
3
]
}
|
{
"id": "C0686353",
"name": "Muscular Dystrophies, Limb-Girdle",
"pos": [
59,
30
]
}
|
TP53 mutants in the tower of babel of cancer progression.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
0,
4
]
}
|
{
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
38,
18
]
}
|
EGFR mutation was an independent prognostic marker in BTCs in addition to tumor stage and differentiation.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
0,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
74,
5
]
}
|
Mutations in human NR5A1 are frequently associated with 46,XY disorders of sex development (DSD).
|
genomic_alterations
|
{
"id": 2516,
"name": "NR5A1",
"pos": [
19,
5
]
}
|
{
"id": "C2930619",
"name": "Sex Differentiation Disorders",
"pos": [
92,
3
]
}
|
Under treatment decreases were observed in systolic blood pressure (SBP), TNF-alpha, CRP, IL-6, BNP concentrations and creatininaemia.
|
NA
|
{
"id": 3569,
"name": "IL6",
"pos": [
90,
4
]
}
|
{
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
43,
23
]
}
|
To investigate whether there is lymphocyte deoxyribonucleic acid (DNA) damage in patients with cardiac syndrome X (CSX), and its relation with total antioxidant status (TAS), inflammation and ischemia.
|
NA
|
{
"id": 1482,
"name": "NKX2-5",
"pos": [
115,
3
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
192,
8
]
}
|
Although very speculative, we hypothesize that increased GBA expression might relate to placentation through decreased BMP4 signaling or vascularization through downregulation of TFEB.
|
NA
|
{
"id": 2629,
"name": "GBA",
"pos": [
57,
3
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
137,
15
]
}
|
Activated protein C resistence (APCR) is a genetically determined cause of thrombophilia and DIC development.
|
genomic_alterations
|
{
"id": 5624,
"name": "PROC",
"pos": [
0,
19
]
}
|
{
"id": "C0012739",
"name": "Disseminated Intravascular Coagulation",
"pos": [
93,
3
]
}
|
While dysregulation of miR-143-5p/3p seems to be a common feature of ALS pathology, downregulation of miR-132-5p/3p and miR-574-5p/3p was evident in sporadic, TARDBP, FUS and C9ORF72, but not SOD1 mutant patients.
|
NA
|
{
"id": 6647,
"name": "SOD1",
"pos": [
192,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
149,
8
]
}
|
The protein (FMRP) encoded by the fragile X mental retardation gene (FMR1), is an RNA-binding protein linked to translational control.
|
NA
|
{
"id": 27303,
"name": "RBMS3",
"pos": [
82,
19
]
}
|
{
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
44,
18
]
}
|
Melanocytic lesions, including Spitz nevi (SN), common benign nevi (CBN) and cutaneous metastatic melanoma (CMM), were analyzed for activating mutations in NRAS, HRAS and BRAF oncogenes, which induce cellular proliferation via the MAP kinase pathway.
|
NA
|
{
"id": 1243,
"name": "CMM",
"pos": [
108,
3
]
}
|
{
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
87,
19
]
}
|
Ibrutinib (PCI-32765) is the most advanced BTK inhibitor in clinical testing, with ongoing phase III clinical trials in patients with chronic lymphocytic leukemia and mantle-cell lymphoma.
|
biomarker
|
{
"id": 5104,
"name": "SERPINA5",
"pos": [
11,
3
]
}
|
{
"id": "C0023434",
"name": "Chronic Lymphocytic Leukemia",
"pos": [
134,
28
]
}
|
We conclude that patients with polymyositis and an excess of COX-negative muscle fibres, but no inclusion bodies, have common features including selective quadriceps weakness, mitochondrial pathology by histochemical and DNA analysis and a poor response to immunosuppressive therapy.
|
NA
|
{
"id": 1351,
"name": "COX8A",
"pos": [
61,
3
]
}
|
{
"id": "C0577655",
"name": "Quadriceps weakness",
"pos": [
155,
19
]
}
|
A deafness-associated G7444A mutation in the precursor of tRNA(Ser(UCN)) gene was identified in 8/500 (1.6%) unrelated blood donors.
|
NA
|
{
"id": 7349,
"name": "UCN",
"pos": [
67,
3
]
}
|
{
"id": "C0011053",
"name": "Deafness",
"pos": [
2,
8
]
}
|
Increased levels of PGE(2) and PGF(2α) in premalignant and/or malignant epithelial skin cancers are due to the constitutive upregulation of enzymes involved in PG biosynthesis, such as COX-2, and downregulation of the tumor suppressor gene 15-hydroxy-prostaglandin dehydrogenase (15-PGDH), which is involved in the inactivation of PG, thus counteracting the activities of COX.
|
NA
|
{
"id": 1351,
"name": "COX8A",
"pos": [
372,
3
]
}
|
{
"id": "C0007114",
"name": "Malignant neoplasm of skin",
"pos": [
83,
12
]
}
|
circ5912 suppresses cancer progression via inducing MET in bladder cancer.
|
biomarker
|
{
"id": 4233,
"name": "MET",
"pos": [
52,
3
]
}
|
{
"id": "C0005684",
"name": "Malignant neoplasm of urinary bladder",
"pos": [
59,
14
]
}
|
The expression of IL-20 and IL-24 and their shared receptors are increased in rheumatoid arthritis and spondyloarthropathy.
|
NA
|
{
"id": 11009,
"name": "IL24",
"pos": [
28,
5
]
}
|
{
"id": "C0949691",
"name": "Spondylarthropathies",
"pos": [
103,
19
]
}
|
In the present study, we first observed that blocking of NF-κB function in KRAS mutant A549 cell line with an IκBα mutant (IκBαM) inhibited cell cycle progression, anti-apoptosis, chemoresistance, and tumorigenesis.
|
NA
|
{
"id": 4792,
"name": "NFKBIA",
"pos": [
111,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
202,
13
]
}
|
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
|
genomic_alterations
|
{
"id": 6323,
"name": "SCN1A",
"pos": [
8,
5
]
}
|
{
"id": "C0014544",
"name": "Epilepsy",
"pos": [
55,
9
]
}
|
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