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In addition, the adenoma and cancer further developed intratumor heterogeneity with the accumulation of nonrandom somatic mutations specifically in GPCR, PI3K-Akt and FGFR signaling pathways. | genomic_alterations | {
"id": 8322,
"name": "FZD4",
"pos": [
148,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
29,
6
]
} |
Here we report that a Mecp2 floxed allele (Mecp2(lox)) that was generated to allow conditional mutagenesis behaves as a hypomorph and the corresponding mutant mice exhibit phenotypical alterations including body weight gain, motor abnormalities and altered social behavior. | NA | {
"id": 4204,
"name": "MECP2",
"pos": [
43,
5
]
} | {
"id": "C0043094",
"name": "Weight Gain",
"pos": [
207,
16
]
} |
In contrast, all three (100%) of the testicular lymphoma tissues demonstrated hypermethylation of E-cadherin, RASSF1A, and RARB, but not CDKN2B, CDKN2A, BRCA1, RB1, VHL, and GSTP1. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
98,
10
]
} | {
"id": "C0349644",
"name": "Malignant lymphoma of testis",
"pos": [
37,
19
]
} |
DJ-1 mutations cause autosomal recessive parkinsonism (ARP). | NA | {
"id": 10139,
"name": "ARFRP1",
"pos": [
55,
3
]
} | {
"id": "C0752100",
"name": "Autosomal Recessive Parkinsonism",
"pos": [
21,
32
]
} |
Additional interferon alpha for lamivudine resistant hepatitis B infection after liver transplantation: a preliminary report. | therapeutic | {
"id": 3440,
"name": "IFNA2",
"pos": [
11,
19
]
} | {
"id": "C0019163",
"name": "Hepatitis B",
"pos": [
53,
21
]
} |
Here, we show that the loss of hPOT1 by RNA interference in BGC823 (poorly differentiated human gastric adenocarcinoma) cells leads to an increase in multinucleated giant cells, a decrease in cell proliferation and colony formation, induction of senescence and apoptosis, shortened telomere length, upregulation of the TRF1 gene and downregulation of the TRF2, tankyrase1 and hTERT genes. | NA | {
"id": 25913,
"name": "POT1",
"pos": [
31,
5
]
} | {
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
96,
22
]
} |
In the present study we aimed at determining for the first time whether metabolic changes would also occur in vascular dementia (VD) patients in the supraoptic (SON), infundibular (INF), tuberomamillary (TMN), medial mamillary nuclei, vertical limb of the diagonal band of Broca (VDB), and nucleus basalis of Meynert. | NA | {
"id": 6651,
"name": "SON",
"pos": [
161,
3
]
} | {
"id": "C0011269",
"name": "Dementia, Vascular",
"pos": [
110,
17
]
} |
Thus, Xenopus Kmt2d morphants can be a valuable tool to elucidate the etiology of the congenital heart defects associated with Kabuki syndrome. | biomarker | {
"id": 8085,
"name": "KMT2D",
"pos": [
14,
5
]
} | {
"id": "C0018798",
"name": "Congenital Heart Defects",
"pos": [
86,
24
]
} |
Similarly, RNF5 levels were higher in metastatic melanoma specimens and in melanoma, leukemia, ovarian, and renal tumor-derived cell lines, suggesting that increased RNF5 expression may be a common event during tumor progression. | NA | {
"id": 6048,
"name": "RNF5",
"pos": [
166,
4
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
85,
8
]
} |
Affected individuals develop a variable phenotype of hemorrhage caused by a broad range of mutations within the Factor VIII or Factor IX gene. | NA | {
"id": 2157,
"name": "F8",
"pos": [
113,
11
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
54,
10
]
} |
We identified a subset of genes that were upregulated in meningiomas and schwannomas when compared to their respectively healthy tissues, including PDGFD, CDH1 and SLIT2. | NA | {
"id": 9353,
"name": "SLIT2",
"pos": [
164,
5
]
} | {
"id": "C0027809",
"name": "Neurilemmoma",
"pos": [
73,
11
]
} |
Hepcidin expression should be investigated in metabolic syndrome and hepatic iron overload associated with IR. | biomarker | {
"id": 57817,
"name": "HAMP",
"pos": [
0,
8
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
107,
2
]
} |
LncRNA MALAT1 promotes development of mantle cell lymphoma by associating with EZH2. | biomarker | {
"id": 378938,
"name": "MALAT1",
"pos": [
7,
6
]
} | {
"id": "C0334634",
"name": "Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse",
"pos": [
38,
20
]
} |
Pro-fibrotic transformation of HSCs through the loss of Sept4 is, in part, due to reduced expression of Dkk2 and its homologues, and the resulting disinhibition of the canonical Wnt pathway. | NA | {
"id": 5414,
"name": "SEPTIN4",
"pos": [
56,
5
]
} | {
"id": "C0424296",
"name": "Social disinhibition",
"pos": [
147,
13
]
} |
Some discrepancies were found; more aneuploid subpopulations of cells were detected in the cell lines as well as higher incidences of TP53 mutations (4 of 10 mutations not found in the tumors) and microsatellite alterations (two cell lines with MAs not detected in the tumors). | NA | {
"id": 7157,
"name": "TP53",
"pos": [
134,
4
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
36,
9
]
} |
Loss-of-function mutations in CDH3, which encodes P-cadherin, result in hypotrichosis with juvenile macular dystrophy (HJMD), an autosomal recessive disorder featuring sparse and short hair. | genomic_alterations | {
"id": 1001,
"name": "CDH3",
"pos": [
30,
4
]
} | {
"id": "C4721530",
"name": "Congenital hypotrichia",
"pos": [
72,
13
]
} |
The omega-hydroxylation and inactivation of pro-inflammatory eicosanoids by members of the CYP4F subfamily and the association of the CYP4F2 and CYP4F3 genes with inflammatory celiac disease indicate an important role in the resolution of inflammation. | NA | {
"id": 8529,
"name": "CYP4F2",
"pos": [
134,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
239,
12
]
} |
Fibroblast growth factor 2 (FGF-2) has multiple, pleiotropic effects on the nervous system that include neurogenesis, neuroprotection and neuroplasticity. | NA | {
"id": 2247,
"name": "FGF2",
"pos": [
0,
26
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
76,
14
]
} |
Recent studies suggest the potential involvement of common antigenic stimuli on the ontogeny of monoclonal T-cell receptor (TCR)-alphabeta(+)/CD4(+)/NKa(+)/CD8(-/+dim) T-large granular lymphocyte (LGL) lymphocytosis. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
156,
3
]
} | {
"id": "C0024282",
"name": "Lymphocytosis",
"pos": [
202,
13
]
} |
In the present study, the impaired diurnal rhythm of the hepatic core clock genes (BMAL1, CLOCK, CRY1, CRY2, PER1 and PER2) significantly induced circadian rhythm abnormalities in liver‑specific clock‑controlled genes (LXR, CYP7A1, SREBP‑1, ABCA1, DEC1 and DEC2; all P<0.05), which were significantly associated with the abnormal diurnal rhythms of triglyceride, total cholesterol, aspartate aminotransferase and alanine aminotransferase (all P<0.05) in rats with Adriamycin‑induced nephropathy. | biomarker | {
"id": 2875,
"name": "GPT",
"pos": [
416,
24
]
} | {
"id": "C0022658",
"name": "Kidney Diseases",
"pos": [
489,
11
]
} |
Moreover, this study demonstrates gene regulations corresponding to the ATC or PTC phenotypes like inflammatory reaction, epithelial to mesenchymal transition (EMT) and invasion, high proliferation rate, dedifferentiation, calcification and fibrosis processes, high glucose metabolism and glycolysis, lactate generation and chemoresistance. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
160,
3
]
} | {
"id": "C0002793",
"name": "Anaplasia",
"pos": [
204,
17
]
} |
Two mutations were detected: an A----G transition causing a glutamine to arginine amino acid substitution at codon 61 of the Ha-ras gene in a primary prostatic duct adenocarcinoma and a G----T transversion causing a glycine to valine amino acid substitution at codon 12 of the Ha-ras gene in a prostate tumor cell line (TSU-PR1) derived from a lymph node metastasis. | NA | {
"id": 140738,
"name": "TMEM37",
"pos": [
324,
3
]
} | {
"id": "C0033578",
"name": "Prostatic Neoplasms",
"pos": [
294,
14
]
} |
At diagnosis, B-CLL/SLL frequently display deletions of 13q14 and trisomy 12, whereas evolution to Richter's syndrome associates with disruption of p53. | genomic_alterations | {
"id": 347734,
"name": "SLC35B2",
"pos": [
20,
3
]
} | {
"id": "C0432408",
"name": "Trisomy 12",
"pos": [
66,
10
]
} |
In our series, we did not find an association between SSNHL and abnormal levels of antithrombin III, protein C, protein S, D-dimer, or fibrinogen; activated protein C resistance; or factor V G1691A, prothrombin G20210A, or MTHFR C677T mutations. | NA | {
"id": 5624,
"name": "PROC",
"pos": [
101,
9
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
135,
10
]
} |
The presence of NRAS or BRAF mutations in a mutually exclusive pattern in roughly half (47%) of conjunctival melanomas and the pattern of CNAs argue for conjunctival melanoma being closely related to cutaneous and mucosal melanoma but entirely distinct from uveal melanoma. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
16,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
109,
9
]
} |
We identified 86 patients with C282Y/C282Y or C282Y/H63D HH and iron overload (hepatic iron concentration (HIC) >2,200 microg/g for males, >1,600 microg/g for females). | NA | {
"id": 29969,
"name": "MDFIC",
"pos": [
107,
3
]
} | {
"id": "C0282193",
"name": "Iron Overload",
"pos": [
64,
13
]
} |
However, subtype analysis showed that a single SNP located within an intron of SELP (rs3917751) is statistically associated with dry AMD in our cohort. | NA | {
"id": 6414,
"name": "SELENOP",
"pos": [
79,
4
]
} | {
"id": "C0151908",
"name": "Dry skin",
"pos": [
129,
3
]
} |
CD4(+) T-cell recognition of mutated B-RAF in melanoma patients harboring the V599E mutation. | NA | {
"id": 920,
"name": "CD4",
"pos": [
0,
3
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
46,
8
]
} |
Keratin variants are expressed in a low percentage of patients with alcoholic cirrhosis and do not influence HCC development. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
109,
3
]
} | {
"id": "C0023891",
"name": "Liver Cirrhosis, Alcoholic",
"pos": [
68,
19
]
} |
Since hypertension and atherosclerosis are major mechanisms in stroke development, we hypothesized that genetic variants of the ER alpha gene (ESR1) are determinants of future ischemic stroke or intracerebral hemorrhage (ICH). | NA | {
"id": 378938,
"name": "MALAT1",
"pos": [
131,
10
]
} | {
"id": "C2937358",
"name": "Cerebral Hemorrhage",
"pos": [
195,
24
]
} |
LN specimens with low tumor cellularity due to numerous adjacent lymphocytes may pose a challenge to clinical detection of BRAF mutations of melanoma. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
123,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
22,
5
]
} |
These results suggest that, in Taiwanese, PD risk is associated with MAOB G intron 13 polymorphism, and this association is augmented in the presence of the COMT(L) genotype, indicating an interaction of these two dopamine-metabolizing enzymes in the pathogenesis of sporadic PD. | NA | {
"id": 1312,
"name": "COMT",
"pos": [
157,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
267,
8
]
} |
These studies evaluating the etiological roles of these factors in linking breast and thyroid cancer might also improve our understanding and identify new therapeutic approaches, such as sodium/iodide symporter-mediated radioiodine therapy and thyroid-stimulating hormone receptor antagonists, for breast cancer. | biomarker | {
"id": 7253,
"name": "TSHR",
"pos": [
244,
36
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
298,
13
]
} |
At 1 week, HO-1 mRNA levels remained significantly higher (5-fold) in the peri-infarct border area than in sham-operated hearts (P<0.001). | NA | {
"id": 3162,
"name": "HMOX1",
"pos": [
11,
4
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
79,
7
]
} |
However, among those with established diabetes, Hp2-2 was associated with higher plaque prevalence and larger carotid IMT compared with the Hp2-1 and Hp1-1 genotypes. | NA | {
"id": 23468,
"name": "CBX5",
"pos": [
150,
3
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
81,
6
]
} |
Neuroimaging revealed fine tram-line BOC, extensive leukoencephalopathy, and bilateral ECAD. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
87,
4
]
} | {
"id": "C0270612",
"name": "Leukoencephalopathy",
"pos": [
52,
19
]
} |
CCR2 is a minor coreceptor for human immune deficiency virus-1 (HIV-1) and its impact on HIV-1-related neuropsychological impairment (NPI) remains unknown. | NA | {
"id": 9509,
"name": "ADAMTS2",
"pos": [
134,
3
]
} | {
"id": "C0021051",
"name": "Immunologic Deficiency Syndromes",
"pos": [
37,
17
]
} |
The corresponding carcinomas of the oesophagus, stomach, liver, pancreas, colon and rectum showed significantly more LGR5(+) cells as well as significantly higher levels of LGR5-mRNA compared with the corresponding non-neoplastic tissue. | NA | {
"id": 8549,
"name": "LGR5",
"pos": [
173,
4
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
215,
14
]
} |
We studied 18 patients with aniridia, five of whom had chromosome deletion involving 11p13, two a translocation t(10;11)(p13;p13) or a der(14;21)(q10;q10)mat, and 11 had a normal karyotype. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
125,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
98,
13
]
} |
The EDA mutations of c.878 T > G, c.663-697del and c.587-615del may be responsible for the pathogenesis of HED in their pedigrees. | genomic_alterations | {
"id": 1896,
"name": "EDA",
"pos": [
4,
3
]
} | {
"id": "C3888065",
"name": "ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT",
"pos": [
110,
3
]
} |
Endothelial nitric oxide synthase gene intron 4 polymorphism predicts new onset diabetes mellitus after transplantation in kidney allograft recipients treated with cyclosporin A. | genomic_alterations | {
"id": 4846,
"name": "NOS3",
"pos": [
0,
33
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
80,
17
]
} |
Pdgfa-shRNA or Bmp4-shRNA adenovirus reduced serum PDGF-AA concentration in db/db mice. | NA | {
"id": 652,
"name": "BMP4",
"pos": [
15,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
26,
10
]
} |
Our results indicate lack of the association of HNMT Thr105Ile functional polymorphism with Alzheimer's disease. | genomic_alterations | {
"id": 3176,
"name": "HNMT",
"pos": [
48,
4
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
92,
19
]
} |
Among the 11 non-responders 7 (64%) were wild-type, 2 (18%) were p53 mutated and 2 (18%) VHL1 mutated.No significant associations were found among RCC histotype, mutation variants and response to therapies. | genomic_alterations | {
"id": 7428,
"name": "VHL",
"pos": [
89,
4
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
147,
3
]
} |
Interestingly, acute CLE and HIIE did not stimulate significant HPC mobilisation in CHD, although both exercise modes elevated circulating concentrations of sympathetic activation. | biomarker | {
"id": 51637,
"name": "RTRAF",
"pos": [
21,
3
]
} | {
"id": "C0010068",
"name": "Coronary heart disease",
"pos": [
84,
3
]
} |
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": "C0021368",
"name": "Inflammation",
"pos": [
114,
12
]
} |
In the "obese-type 2 diabetes" scan, FTO variants had the strongest type 2 diabetes effect (rs8050136: relative risk [RR] 1.49 [95% CI 1.34-1.66], P = 1.3 x 10(-13)), with only weak evidence for TCF7L2 (rs7901695 RR 1.21 [1.09-1.35], P = 0.001). | genomic_alterations | {
"id": 79068,
"name": "FTO",
"pos": [
37,
3
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
68,
15
]
} |
CYP46A1 and its metabolic product, 24S-hydroxycholesterol, have been linked to neurodegeneration. | NA | {
"id": 10858,
"name": "CYP46A1",
"pos": [
0,
7
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
79,
17
]
} |
This study was designed to investigate the role of MCT1 in the development of cisplatin-resistant ovarian cancer and its possible relationship with Fas. | biomarker | {
"id": 1215,
"name": "CMA1",
"pos": [
51,
4
]
} | {
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
98,
14
]
} |
5 may be involved and at least a t(10;12)(q24;p13) variant chromosome translocation does exist in these MDSs, and (3) both standard and variant 12p/TEL translocations may be identified by FISH with appropriate probes. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
188,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
59,
24
]
} |
Retrospective studies suggest cytogenetic abnormalities detected by interphase fluorescent in situ hybridization (FISH) can identify patients with chronic lymphocytic leukemia (CLL) who will experience a more aggressive disease course. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
114,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
30,
25
]
} |
In the latter, we studied medial SMC differentiation and inflammation processes implicated early after de-endothelialization in relation to mechanical stresses. | NA | {
"id": 54808,
"name": "DYM",
"pos": [
33,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
57,
12
]
} |
The replication‑selective adenovirus, ZD55‑IL‑24, was constructed by harboring an E1B‑55 kDa deletion and arming with interleukin-24 (IL-24). | NA | {
"id": 11009,
"name": "IL24",
"pos": [
134,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
26,
10
]
} |
Expressional alterations and transcript isoforms of metastasis suppressor genes (KAI1 and KiSS1) in breast cancer patients. | genomic_alterations | {
"id": 3814,
"name": "KISS1",
"pos": [
90,
5
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
52,
10
]
} |
AMG provides a spatial representation of OA progression; showing a reproducible and histologically validated pattern of cartilage destruction such that damaged and undamaged cartilage from within the same knee can be consistently isolated and examined. | NA | {
"id": 265,
"name": "AMELX",
"pos": [
0,
3
]
} | {
"id": "C4021973",
"name": "Cartilage destruction",
"pos": [
120,
21
]
} |
Multiple logistic regression analyses showed that RBP4 was independently associated with incident diabetes (odds ratio [OR] [95%confidence interval (CI)]: 1.69 [1.18-2.41]; P = 0.004). | NA | {
"id": 5433,
"name": "POLR2D",
"pos": [
50,
4
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
98,
8
]
} |
The role of dopamine transporter (SLC6A3) and dopamine D2 receptor/ankyrin repeat and kinase domain containing 1 (DRD2/ANKK1) gene polymorphisms in personality traits. | NA | {
"id": 255239,
"name": "ANKK1",
"pos": [
119,
5
]
} | {
"id": "C0233849",
"name": "Personality Traits",
"pos": [
148,
18
]
} |
The association with the susceptibility to HBV infection was only observed for IL10RB K47E when we compared the individuals with persistent HBV infection through nonmaternal transmission to the controls with asymptomatic self-limited HBV infection. | NA | {
"id": 3588,
"name": "IL10RB",
"pos": [
79,
6
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
208,
12
]
} |
These observations suggest that decreased PI3K/Akt signaling may be involved in the compromised metaplastic regulation of LTP observed in hypothyroidism, which may account for the learning difficulties/cognitive impairments associated with this condition. | biomarker | {
"id": 5290,
"name": "PIK3CA",
"pos": [
42,
4
]
} | {
"id": "C0020676",
"name": "Hypothyroidism",
"pos": [
138,
14
]
} |
IL-6, IL-8 and IL-17 may perpetuate chronic immune response in BPH and induce fibromuscular growth by an autocrine or paracrine loop or via induction of COX-2 expression. | biomarker | {
"id": 3605,
"name": "IL17A",
"pos": [
15,
5
]
} | {
"id": "C1704272",
"name": "Benign Prostatic Hyperplasia",
"pos": [
63,
3
]
} |
G-banded and complementary metaphase FISH analyses confirmed an 11q23/MLL translocation in 8 of the 12 cases, whereas in one case, the identification of a del(11)(q23) was restricted to G-banded analysis only. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
37,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
74,
13
]
} |
The genes involved in this translocation are ERG on chromosome 21 and TLS/FUS on chromosome 16. | NA | {
"id": 2521,
"name": "FUS",
"pos": [
74,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
27,
13
]
} |
Further studies showed that ashTERT and asTANKS-promoted A549 apoptosis was not mediated by downregulation of the expression of the anti-apoptotic gene BCL-2 or upregulation of the expression of the pro-apoptotic gene BAX, but by adjusting the two isoforms proportion of myeloid cell leukemia-1 (MCL-1) which can interact with tankyrase directly. | NA | {
"id": 8658,
"name": "TNKS",
"pos": [
327,
9
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
284,
8
]
} |
In these subjects, macrophage LPL activity correlated with body mass index and fat mass. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
30,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
59,
15
]
} |
The expression of CYP1B1 in hyperplasia, SCCs in situ, or in association with inflammation may increase the production of carcinogenic metabolites, which may promote esophageal tumorigenesis. | NA | {
"id": 1545,
"name": "CYP1B1",
"pos": [
18,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
177,
13
]
} |
Further studies are needed to understand whether GALNT2 down-regulation plays a pathogenic role in maintaining and/or aggravating the metabolic abnormalities of diabetic milieu. | NA | {
"id": 2590,
"name": "GALNT2",
"pos": [
49,
6
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
144,
13
]
} |
We detected the ERBB4 somatic mutations in 3 of 180 gastric carcinomas (1.7%), 3 of 104 colorectal carcinomas (2.9%), 5 of 217 nonsmall cell lung cancers (2.3%) and 1 of 94 breast carcinomas (1.1%). | genomic_alterations | {
"id": 2066,
"name": "ERBB4",
"pos": [
16,
5
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
88,
21
]
} |
During passive tilt, LRRK2 carries had higher increase of blood pressure than iPD patients MIBG late myocardial/mediastinal uptake ratios were higher in LRRK2 mutation carriers (1.51 ± 0.28 vs 1.32 ± 0.25; p < 0.05). | NA | {
"id": 120892,
"name": "LRRK2",
"pos": [
153,
5
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
58,
14
]
} |
The pattern of neurodegeneration in GBA-associated PD is more pronounced in the putamen than in the midbrain. | NA | {
"id": 2629,
"name": "GBA",
"pos": [
36,
3
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
15,
17
]
} |
Chromosome 7 showed the highest rate of allelic loss in all 3 categories, with loss of 43% of loci in PIN, 37% in TZ tumors and 31% in PZ tumors. | genomic_alterations | {
"id": 8655,
"name": "DYNLL1",
"pos": [
102,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
138,
6
]
} |
Three families with antithrombin deficiency, 35 with protein C, 60 with protein S, four with plasminogen, four with heparin cofactor II, seven with combined deficiencies and one family with dysfibrinogenemia were included in the analysis. | NA | {
"id": 5627,
"name": "PROS1",
"pos": [
72,
9
]
} | {
"id": "C1260903",
"name": "Dysfibrinogenemia",
"pos": [
190,
17
]
} |
In schizophrenia with DISC1 translocation carrier, the DISC1-Fez1 and DISC1-DBZ interaction is disrupted, and it is likely that neural circuit formation remains immature, suggesting that schizophrenia is a neurodevelopmental disease. | NA | {
"id": 9638,
"name": "FEZ1",
"pos": [
61,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
28,
13
]
} |
The dependency of the serum parameters free β-HCG and PAPP-A on maternal weight was analyzed in the sample of negative outcomes by means of nonlinear regression. | NA | {
"id": 5069,
"name": "PAPPA",
"pos": [
54,
6
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
73,
6
]
} |
In conclusion, these data provide borderline evidence of association for common allelic variation in the NMI with risk of epithelial OC. | genomic_alterations | {
"id": 9111,
"name": "NMI",
"pos": [
105,
3
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
133,
2
]
} |
Xpert™ MTB/Rif assay was positive in 4/21 patients with peritoneal tuberculosis and in none of the 7 patients with alternative diagnosis. | NA | {
"id": 4498,
"name": "MT1JP",
"pos": [
7,
3
]
} | {
"id": "C0041325",
"name": "Peritonitis, Tuberculous",
"pos": [
56,
23
]
} |
In the 8;21 translocation, the AML1 gene, located at chromosome band 21q22, is translocated to chromosome 8 (q22), where it is fused to the ETO gene and transcribed as a chimeric gene. | NA | {
"id": 862,
"name": "RUNX1T1",
"pos": [
140,
8
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
12,
13
]
} |
This study investigated the role of heme oxygenase (HO)-1 in the cardiac tissue injury of acute ischemia/reperfusion (I/R) in diabetic streptozotocin (STZ)-induced hyperglycemic rats. | NA | {
"id": 6484,
"name": "ST3GAL4",
"pos": [
151,
3
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
96,
8
]
} |
The role of KDM4B in cancer progression has been gradually revealed. | biomarker | {
"id": 23030,
"name": "KDM4B",
"pos": [
12,
5
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
21,
18
]
} |
Mutations in GCAP1 that disrupt the Ca2+ regulation of Ret-GCs in vitro have been associated with severe human vision disorders. | NA | {
"id": 2978,
"name": "GUCA1A",
"pos": [
13,
5
]
} | {
"id": "C0042790",
"name": "Vision Disorders",
"pos": [
111,
16
]
} |
Caffeine-sensitivity of channel opening was also assayed by caffeine-induced Ca(2+) release in HEK-293 cells expressing wild-type and mutant channels. | NA | {
"id": 2042,
"name": "EPHA3",
"pos": [
95,
3
]
} | {
"id": "C0236734",
"name": "Caffeine related disorders",
"pos": [
60,
8
]
} |
Alterations in MGMT play a critical role in the development of several types of cancer, including glioblastoma, lung cancer, and colorectal cancer. | genomic_alterations | {
"id": 4255,
"name": "MGMT",
"pos": [
15,
4
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
129,
17
]
} |
The role of single nucleotide polymorphisms of the ERCC1 and MMS19 genes in predicting platinum-sensitivity, progression-free and overall survival in advanced epithelial ovarian cancer. | genomic_alterations | {
"id": 64210,
"name": "MMS19",
"pos": [
61,
5
]
} | {
"id": "C0677886",
"name": "Epithelial ovarian cancer",
"pos": [
159,
25
]
} |
Our study suggests that increased vWF levels and presence of HMWMs could be related to cerebrovascular disease and may represent useful biomarkers for stroke in AF. | biomarker | {
"id": 7450,
"name": "VWF",
"pos": [
34,
3
]
} | {
"id": "C0007820",
"name": "Cerebrovascular Disorders",
"pos": [
87,
23
]
} |
To study the effect of Hsp27 on memory and synaptic functions, amyloid-β (Aβ) accumulation, and neurodegeneration, we generated transgenic mice overexpressing human Hsp27 protein and crossed with APPswe/PS1dE9 mouse strain, a mouse model of Alzheimer's disease (AD). | NA | {
"id": 3315,
"name": "HSPB1",
"pos": [
23,
5
]
} | {
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
63,
7
]
} |
These results show that p27(Kip1) mutation is not a frequent event in human hepatocellular carcinoma, and suggest that it may be inactivated predominantly by transcriptional and/or posttranscriptional regulation rather than genomic aberrations. | genomic_alterations | {
"id": 1027,
"name": "CDKN1B",
"pos": [
28,
4
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
76,
24
]
} |
The presence of mutations in CD46 and CFH did not predispose to SLE or nephritis but was associated with earlier onset of nephritis. | genomic_alterations | {
"id": 3075,
"name": "CFH",
"pos": [
38,
3
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
64,
3
]
} |
In addition, screening with allogenic sera from other glioma patients revealed GLEA2 directed antibodies in two out of five pilocytic astrocytomas and in one out of two astrocytomas. | biomarker | {
"id": 51230,
"name": "PHF20",
"pos": [
79,
5
]
} | {
"id": "C0004114",
"name": "Astrocytoma",
"pos": [
169,
12
]
} |
Heterogeneity across alcohol consumption status of the associations between MTR/MTRR polymorphisms and these cancers indicates potential interactions between alcohol drinking and one-carbon metabolic pathway. | NA | {
"id": 4552,
"name": "MTRR",
"pos": [
80,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
158,
16
]
} |
Its expression was found, with respect to HTU5 cells, unchanged in cells derived from a benign thyroid follicular tumor (HTU42), and significantly reduced in cell lines derived from follicular (FTC-133), papillary (B-CPAP), and anaplastic thyroid carcinomas (CAL-62 and 8305C). | genomic_alterations | {
"id": 57120,
"name": "GOPC",
"pos": [
259,
3
]
} | {
"id": "C0238461",
"name": "Anaplastic thyroid carcinoma",
"pos": [
228,
29
]
} |
Several previous studies have demonstrated that the CDX2-negative (CDX2) and/or CK20-negative (CK20) phenotypes of colorectal cancers (CRCs) might be associated with high levels of microsatellite instability (MSI-H). | NA | {
"id": 54474,
"name": "KRT20",
"pos": [
95,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
181,
26
]
} |
Parkinson's disease-associated mutant LRRK2 phosphorylates Rab7L1 and modifies trans-Golgi morphology. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
38,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
0,
19
]
} |
In this study we were able to show that N-cadherin expression in melanoma cells is dependent on ILK signaling and the translocation of β-catenin to the nucleus. | NA | {
"id": 3611,
"name": "ILK",
"pos": [
96,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
118,
13
]
} |
These findings indicate that MST1/STK4/Hippo signaling restricts aggressive tumor cell growth by intersecting with multiple molecular pathways, suggesting that targeting of the STK4/Hippo pathway may have important therapeutic implications for cancer. | biomarker | {
"id": 6789,
"name": "STK4",
"pos": [
177,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
244,
6
]
} |
Combined effects of collagen type I alpha1 (COL1A1) Sp1 polymorphism and osteoporosis risk factors on bone mineral density in Turkish postmenopausal women. | NA | {
"id": 1277,
"name": "COL1A1",
"pos": [
44,
6
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
102,
20
]
} |
Phorbol-ester-induced hyperplasia of mouse skin is also accompanied by a significant induction of C4.4A expression in the multilayered, suprabasal keratinocytes. | NA | {
"id": 27076,
"name": "LYPD3",
"pos": [
98,
5
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
22,
11
]
} |
INTRODUCTION: Our objective was to investigate the association between gene polymorphisms of folate cycle (MTHFR 677 C>T, MTHFR 1298 A>C, MTR 2756 A>G, and MTRR 66 A>G) and the risk of pulmonary embolism (PE) in a case-control study. | NA | {
"id": 4552,
"name": "MTRR",
"pos": [
156,
4
]
} | {
"id": "C0034065",
"name": "Pulmonary Embolism",
"pos": [
185,
18
]
} |
Interestingly, smoking was also found to modulate risks for BC in case of TERT and SLC14A1 variant genotype (TT). | NA | {
"id": 6563,
"name": "SLC14A1",
"pos": [
83,
7
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
15,
7
]
} |
Secondly, presumably 'loss-of-function' mutations in the PSTI gene appear to be frequent, with a detection rate of at least 10% in ICP and, finally, abnormal CFTR alleles are common: at least 20% of patients carried one of the most common CFTR mutations, and about 10% of patients were compound heterozygotes, having at least one 'mild' allele. | NA | {
"id": 6690,
"name": "SPINK1",
"pos": [
57,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
331,
4
]
} |
A number of genes previously recognized to have an important role in the development and progression of melanoma were identified including homozygous deletions of CDKN2A (13 of 39 samples), CDKN2B (10 of 39), PTEN (3 of 39), PTPRD (3 of 39), TP53 (1 of 39), and amplifications of CCND1 (2 of 39), MITF (2 of 39), MDM2 (1 of 39), and NRAS (1 of 39). | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
333,
7
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
104,
8
]
} |
After 2 weeks, the rats were examined for retinal leukostasis in vivo with a scanning laser ophthalmoscope (SLO). | NA | {
"id": 3778,
"name": "KCNMA1",
"pos": [
108,
3
]
} | {
"id": "C0282548",
"name": "Leukostasis",
"pos": [
50,
11
]
} |
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