text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
Tissue transglutaminase 2 inhibition promotes cell death and chemosensitivity in glioblastomas. | therapeutic | {
"id": 7052,
"name": "TGM2",
"pos": [
7,
18
]
} | {
"id": "C0496899",
"name": "Benign neoplasm of brain, unspecified",
"pos": [
81,
13
]
} |
We conclude that the Slamf2(-/-) mutation may have a unique influence on T-cell tolerance and lupus. | genomic_alterations | {
"id": 962,
"name": "CD48",
"pos": [
21,
6
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
94,
5
]
} |
Of interest, we found that IL-10, CD14, and MD-2 levels were positively correlated, suggesting that IL-10 may be a driving force for increased release of MD-2 and CD14 during systemic inflammation. | NA | {
"id": 23643,
"name": "LY96",
"pos": [
154,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
184,
12
]
} |
Our findings further support BAP1 as a melanoma susceptibility gene and extend the potential predisposition spectrum to paraganglioma. | genomic_alterations | {
"id": 8314,
"name": "BAP1",
"pos": [
29,
4
]
} | {
"id": "C0030421",
"name": "Paraganglioma",
"pos": [
120,
13
]
} |
FISH analysis using YAC and PAC clones as probes refined the breakpoint regions to genomic segments of about 164 and 120 kb, respectively, providing a possible clue to pinpoint the location of a novel gene responsible for this rare muscle disorder. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
0,
4
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
232,
15
]
} |
GS mRNA was increased by ~50% in the CA3 in TLE patients without hippocampal sclerosis versus in TLE patients with sclerosis and in nonepilepsy subjects. | NA | {
"id": 761,
"name": "CA3",
"pos": [
37,
3
]
} | {
"id": "C1504404",
"name": "Hippocampal sclerosis",
"pos": [
65,
21
]
} |
Our results show that molecular complementarity underlies the higher frequency and significantly worse prognosis associated with <i>NPM1</i>c/<i>FLT3-ITD</i> vs <i>NPM1/NRAS-G12D-</i>mutant AML and functionally confirm the role of <i>HOXA</i> genes in NPM1c-driven AML. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
199,
4
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
313,
3
]
} |
This work aimed to evaluate single nucleotide polymorphisms (SNPs) of IFNGR1, GSTT1, and GSTP1 genes samples in gastric cancer. | NA | {
"id": 3459,
"name": "IFNGR1",
"pos": [
70,
6
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
112,
14
]
} |
In situ examination of MTB-reactive GALs by tetramer in situ staining and confocal laser-scanning microscopy consolidates the presence of MHC class I-restricted CD8+ T cells in MTB granuloma lesions and supports the notion that clonally expanded T cells are crucial in immune surveillance against MTB. | NA | {
"id": 4498,
"name": "MT1JP",
"pos": [
297,
3
]
} | {
"id": "C0018188",
"name": "Granuloma",
"pos": [
181,
9
]
} |
The MAPKKK, ASK1, was strongly activated late during ischaemia, with a similar time course to that of MKK6 and in ischaemic neonatal cardiac myocytes ASK1 expression preferentially activated MKK6 rather than MKK3. | NA | {
"id": 5608,
"name": "MAP2K6",
"pos": [
102,
4
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
53,
9
]
} |
The variant T allele of the TMPRSS2 SNP, rs12329760, was positively associated with TMPRSS2-ERG fusion by translocation (p = 0.05) and with multiple copies of the gene fusion (p = 0.03). | NA | {
"id": 2078,
"name": "ERG",
"pos": [
92,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
106,
13
]
} |
Phyllanthus urinaria suppresses human osteosarcoma cell invasion and migration by transcriptionally inhibiting u-PA via ERK and Akt signaling pathways. | biomarker | {
"id": 5594,
"name": "MAPK1",
"pos": [
120,
3
]
} | {
"id": "C0585442",
"name": "Osteosarcoma of bone",
"pos": [
38,
12
]
} |
We suggest that p75(NTR) loss accompanies progression from retinoma to retinoblastoma. | biomarker | {
"id": 11168,
"name": "PSIP1",
"pos": [
16,
8
]
} | {
"id": "C0346396",
"name": "Retinoma",
"pos": [
59,
8
]
} |
Intense immunoexpression of HSPG was seen in the tumor-specific fibro-myxoid stroma of ICC and metastatic liver cancer originating from the colon. | biomarker | {
"id": 3339,
"name": "HSPG2",
"pos": [
28,
4
]
} | {
"id": "C0494165",
"name": "Secondary malignant neoplasm of liver",
"pos": [
95,
23
]
} |
These combined results suggest that mutations in KRAS2 occur early in the development of human colon carcinoma, before change in ploidy, and that these mutations exist in diploid cells from which an aneuploid subpopulation arises. | NA | {
"id": 3845,
"name": "KRAS",
"pos": [
49,
5
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
199,
9
]
} |
For instance, the uveitis in monogenic autoinflammatory disorders, such as Blau syndrome and cryopyrin-associated periodic syndrome, or in complex polygenic autoinflammatory disorders, such as Behçet's disease, has been successfully treated with IL-1 blockers. | genomic_alterations | {
"id": 3553,
"name": "IL1B",
"pos": [
246,
4
]
} | {
"id": "C0042164",
"name": "Uveitis",
"pos": [
18,
7
]
} |
Hyperthermic isolated perfusion with low-dose TNFalpha and doxorubicin in patients with locally advanced soft tissue limb sarcomas. | therapeutic | {
"id": 7124,
"name": "TNF",
"pos": [
46,
4
]
} | {
"id": "C0205945",
"name": "Sarcoma, Spindle Cell",
"pos": [
122,
8
]
} |
Constitutional symptoms (fever, malaise, and fatigue) and asymptomatic hyperbilirubinemia were the chief dose-limiting toxic effects of interleukin-2 therapy. | genomic_alterations | {
"id": 3558,
"name": "IL2",
"pos": [
136,
13
]
} | {
"id": "C0015967",
"name": "Fever",
"pos": [
25,
5
]
} |
Modulation of LPA1 receptor-mediated neuronal apoptosis by Saikosaponin-d: A target involved in depression. | biomarker | {
"id": 1902,
"name": "LPAR1",
"pos": [
14,
4
]
} | {
"id": "C0011570",
"name": "Mental Depression",
"pos": [
96,
10
]
} |
Our data conclude that thermotherapy under 42-46 C had no effect on MICA/B induction on SW-872 liposarcoma cell line but the effects of fever-range temperatures remain to be tested on this cell line. | NA | {
"id": 100507436,
"name": "MICA",
"pos": [
68,
4
]
} | {
"id": "C0023827",
"name": "liposarcoma",
"pos": [
95,
11
]
} |
However, the relationship between ACE polymorphism, arterial stiffness, and wave reflections in healthy, low-risk population has not been defined yet. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
34,
3
]
} | {
"id": "C0599949",
"name": "Arterial Stiffness",
"pos": [
52,
18
]
} |
We showed that Smo, but not Gli1, inhibition decreases proliferation significantly under hypoxic conditions. | NA | {
"id": 2735,
"name": "GLI1",
"pos": [
28,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
89,
7
]
} |
Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia. | genomic_alterations | {
"id": 6607,
"name": "SMN2",
"pos": [
65,
3
]
} | {
"id": "C0013363",
"name": "Dysautonomia",
"pos": [
74,
12
]
} |
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. | genomic_alterations | {
"id": 4509,
"name": "ATP8",
"pos": [
22,
4
]
} | {
"id": "C0442874",
"name": "Neuropathy",
"pos": [
98,
10
]
} |
What is the timing of onset and clinical course of premature ovarian insufficiency (POI) in patients with Mulibrey nanism (MUL), a monogenic disorder caused by mutations of the peroxisomal TRIM37 gene? | genomic_alterations | {
"id": 4591,
"name": "TRIM37",
"pos": [
189,
6
]
} | {
"id": "C0025322",
"name": "Premature Menopause",
"pos": [
51,
31
]
} |
Treatments with COX-2-specific NSAIDs have been shown to reduce polyp size and polyp number in FAP patients with a predisposition to colorectal adenoma and cancer. | genomic_alterations | {
"id": 5743,
"name": "PTGS2",
"pos": [
16,
5
]
} | {
"id": "C1302401",
"name": "Adenoma of large intestine",
"pos": [
133,
18
]
} |
METHODS: HER2 status was assessed using immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) in tumor tissue samples from 89 patients with gastric adenocarcinoma enrolled in the phase II JCOG0001 and JCOG0405 trials. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
107,
4
]
} | {
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
159,
22
]
} |
p53 deletions were associated with higher serum calcium (P = .0062) and creatinine (P = .013) levels, but there were no association with patient age, gender, beta2-microglobulin, C-reactive protein, hemoglobin, albumin or bone lytic lesions, or immunoglobulin isotype. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
179,
18
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
199,
10
]
} |
No germline mutations in MLH1, MSH2, MSH6 and PMS2 genes, no microsatellite instability, no aberrant methylation of MLH1 promoter, and no somatic mutations in MSH2 and MSH6 were found. | NA | {
"id": 5395,
"name": "PMS2",
"pos": [
46,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
61,
26
]
} |
NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis among the Chinese Kazakh population: a case-control study. | NA | {
"id": 3123,
"name": "HLA-DRB1",
"pos": [
13,
8
]
} | {
"id": "C0429908",
"name": "Susceptibility to tuberculosis",
"pos": [
58,
30
]
} |
We indeed found that enforced expression of miR-199a-5p led to down-modulated expression of HIF-1α as well as of other pro-angiogenic factors such as VEGF-A, IL-8, and FGFb in hypoxic MM cells in vitro. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
92,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
176,
7
]
} |
A comprehensive statistical analysis suggested the set of 19 gene markers, ANKRD28, BHLHE40, CGGBP1, RBSP3, EPHB1, FGD5, FOXP1, GORASP1/TTC21, IQSEC1, ITGA9, LOC285375, LRRC3B, LRRN1, MITF, NKIRAS1/RPL15, TRH, UBE2E2, VHL, WNT7A, to allow early detection, tumor progression, metastases and to discriminate between SCC and ADC with sensitivity and specificity of 80-100%. | NA | {
"id": 7325,
"name": "UBE2E2",
"pos": [
210,
6
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
256,
17
]
} |
Mutations in the APC gene give rise to familial adenomatous polyposis and occur in many perhaps even the majority, of sporadic colon cancers. | NA | {
"id": 324,
"name": "APC",
"pos": [
17,
8
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
118,
8
]
} |
Arterial NCX expression and mechanisms that control the local (sub-plasma membrane) Na(+) gradient, including cation-selective receptor-operated channels containing TRPC6, regulate arterial Ca(2+) and constriction, and thus BP. | NA | {
"id": 3196,
"name": "TLX2",
"pos": [
9,
3
]
} | {
"id": "C1261287",
"name": "Stenosis",
"pos": [
201,
12
]
} |
The "f" allele of VDR FokI polymorphism is associated with a higher risk of UBC in Tunisians, especially in smokers as well as subjects with occupational exposition and subjects without vitamin D deficiency. | genomic_alterations | {
"id": 7421,
"name": "VDR",
"pos": [
18,
3
]
} | {
"id": "C0042870",
"name": "Vitamin D Deficiency",
"pos": [
186,
20
]
} |
Using immunohistochemistry, Western blot, and RT-PCR analyses we correlated the expression of the IFN-gamma inducible proteasome subunits and of the peptide transporter TAP with that of HLA class I antigens in biopsies and cell lines from primary, recurrent, and metastatic HNSCC. | biomarker | {
"id": 10482,
"name": "NXF1",
"pos": [
169,
3
]
} | {
"id": "C1168401",
"name": "Squamous cell carcinoma of the head and neck",
"pos": [
274,
5
]
} |
Their expression correlated with the severity of pancreatic neuritis, fibrosis, intrapancreatic nerve fiber density and hypertrophy, pain, CP duration and with the amount of inflammatory cell infiltrate immuno-positive for CD45 and CD68. | NA | {
"id": 5788,
"name": "PTPRC",
"pos": [
223,
4
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
70,
8
]
} |
Inactivating mutations in MMR genes have been described in sporadic cancers and a hereditary cancer predisposition syndrome. | NA | {
"id": 4360,
"name": "MRC1",
"pos": [
26,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
59,
8
]
} |
We hypothesized that an objective evaluation of nuclear chromatin patterns could be used to define atypical follicular tumors (AFT) that are likely to be premalignant. | NA | {
"id": 55783,
"name": "CMTR2",
"pos": [
127,
3
]
} | {
"id": "C0032927",
"name": "Precancerous Conditions",
"pos": [
154,
12
]
} |
S100A9 is a new inflammatory marker associated with obesity and cardiovascular disease. | biomarker | {
"id": 6280,
"name": "S100A9",
"pos": [
0,
6
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
52,
7
]
} |
Hepatitis C virus core upregulates the methylation status of the RASSF1A promoter through regulation of SMYD3 in hilar cholangiocarcinoma cells. | NA | {
"id": 64754,
"name": "SMYD3",
"pos": [
104,
5
]
} | {
"id": "C0206702",
"name": "Klatskin Tumor",
"pos": [
113,
24
]
} |
These studies show that chronic intestinal inflammation is associated with expansions of CD4+ peripheral blood T cells. | NA | {
"id": 920,
"name": "CD4",
"pos": [
89,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
43,
12
]
} |
In two sporadic cases, heterozygosity for de novo missense mutations in TRPV4 was found. | NA | {
"id": 59341,
"name": "TRPV4",
"pos": [
72,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
7,
8
]
} |
MTX-associated B-LPD differed from primary cutaneous follicle center lymphoma by the presence of ulcerating and/or generalized skin lesions, an infiltrate composed of centroblasts/immunoblasts rather than large centrocytes, reduced staining for CD79a, and expression of BCL2, IRF4, and FOXP1 in most cases. | NA | {
"id": 65059,
"name": "RAPH1",
"pos": [
17,
3
]
} | {
"id": "C1333171",
"name": "Primary Cutaneous Follicle Center Lymphoma",
"pos": [
35,
42
]
} |
These events are characterized by FISH and classical cytogenetics, but in a small proportion of samples a translocation involving the IGH locus can be detected but the partner chromosome cannot be identified. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
34,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
106,
13
]
} |
Two hundred fifty cases of cervical carcinoma, including squamous cell carcinoma (SCCA; n = 178), adenocarcinoma (ADCA; n = 28), adenosquamous carcinoma (ASCA; n = 8), neuroendocrine carcinoma (NECA; n = 15), and other variant or mixed types (n = 21) were studied. | NA | {
"id": 5173,
"name": "PDYN",
"pos": [
114,
4
]
} | {
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
27,
18
]
} |
high glycogen phosphorylase and synthase activity, lack of glucose 6-phosphatase activity) and the same expression patterns of cytokeratin 7 and several growth factors, along with their receptors and signal transduction proteins (TGF-alpha, EGF receptor, IGF-I, IGF-I receptor, IGF-II receptor, insulin receptor substrate 1, v-raf-1 murine leukemia viral oncogene homologue 1 and mitogen activated protein kinase kinase 1). | NA | {
"id": 3667,
"name": "IRS1",
"pos": [
295,
28
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
340,
8
]
} |
The disease maps to chromosome Xq28 and is the first designated high-grade myopia locus (MYP1). | genomic_alterations | {
"id": 4657,
"name": "MYP1",
"pos": [
89,
4
]
} | {
"id": "C0271183",
"name": "Severe myopia",
"pos": [
64,
17
]
} |
Specific conditions of atrophy such as denervation, immobilization, or unloading rapidly induce the expression of Fn14 leading to TWEAK-induced activation of various proteolytic pathways in skeletal muscle. | NA | {
"id": 8742,
"name": "TNFSF12",
"pos": [
130,
5
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
23,
7
]
} |
We assessed blood pressure, heart rate, and urinary catecholamines in overweight or obese subjects with a loss-of-function mutation in MC4R, the gene encoding the melanocortin 4 receptor, and in equally overweight control subjects. | NA | {
"id": 4160,
"name": "MC4R",
"pos": [
163,
23
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
203,
10
]
} |
Increasing age, higher MTX dose per BSA, lower baseline serum protein, and first HDMTX course were significant risk factors for developing HDMTX-induced AKI in childhood ALL. | biomarker | {
"id": 4580,
"name": "MTX1",
"pos": [
23,
3
]
} | {
"id": "C0022660",
"name": "Kidney Failure, Acute",
"pos": [
153,
3
]
} |
Killer-cell immunoglobulin-like receptors (KIR) in severe A (H1N1) 2009 influenza infections. | NA | {
"id": 2669,
"name": "GEM",
"pos": [
43,
3
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
82,
10
]
} |
One form of CRS with polyps found worldwide is driven by the cytokines IL-5 and IL-13 coming from Th2 cells, type 2 innate lymphoid cells, and probably mast cells. | biomarker | {
"id": 3596,
"name": "IL13",
"pos": [
80,
5
]
} | {
"id": "C0010278",
"name": "Craniosynostosis",
"pos": [
12,
3
]
} |
We assessed RNA and protein levels of ER stress markers (HSPA5, XBP1, and CHOP) in human GC, and correlated with Helicobacter pylori (H. pylori) status, then surveyed HSPA5 in normal gastric mucosa and gastric pre-neoplasia including gastritis and intestinal metaplasia (IM). | NA | {
"id": 1649,
"name": "DDIT3",
"pos": [
74,
4
]
} | {
"id": "C0334037",
"name": "Intestinal metaplasia",
"pos": [
248,
21
]
} |
We report that diffusion tensor imaging (DTI) and tractography (DTT) of the pyramidal tracts using multi-band (MB) EPI could be a useful tool with a 1.5T MRI. | biomarker | {
"id": 7035,
"name": "TFPI",
"pos": [
115,
3
]
} | {
"id": "C3266262",
"name": "Multiple Chronic Conditions",
"pos": [
99,
5
]
} |
Therefore, uremia and activation of the CaR mediated by calcimimetics modify AUF1 posttranslationally. | therapeutic | {
"id": 3184,
"name": "HNRNPD",
"pos": [
77,
4
]
} | {
"id": "C0041948",
"name": "Uremia",
"pos": [
11,
6
]
} |
UMOD, SHROOM3, STC1, LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2/SH2B3, DACH1, UBE2Q2, and SLC7A9 were uncovered as loci associated with estimated glomerular filtration rate (eGFR) and CKD, and CUBN as a locus for albuminuria in cross-sectional data of general population studies. | NA | {
"id": 1602,
"name": "DACH1",
"pos": [
100,
5
]
} | {
"id": "C0001925",
"name": "Albuminuria",
"pos": [
242,
11
]
} |
LIF promotes tumorigenesis and metastasis of breast cancer through the AKT-mTOR pathway. | NA | {
"id": 207,
"name": "AKT1",
"pos": [
71,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
13,
13
]
} |
Here, we show the histone demethylase JMJD2B is regulated by both ERalpha and HIF-1alpha, drives breast cancer cell proliferation in normoxia and hypoxia, and epigenetically regulates the expression of cell cycle genes such as CCND1, CCNA1, and WEE1. | NA | {
"id": 7465,
"name": "WEE1",
"pos": [
245,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
146,
7
]
} |
Kidney-specific knockout of Mef2c, or genetrap-inactivation of a MEF2C transcriptional target, MIM, resulted in extensive renal tubule dilation and cysts, whereas Hdac5 heterozygosity or treatment with TSA, an HDAC inhibitor, reduced cyst formation in Pkd2(-/-) mouse embryos. | NA | {
"id": 7001,
"name": "PRDX2",
"pos": [
202,
3
]
} | {
"id": "C0012359",
"name": "Pathological Dilatation",
"pos": [
135,
8
]
} |
The significant detection of GSTT1 null genotype more in controls than in asthmatics with no association with other atopic manifestations or asthma severity and the lack of association detected between GSTM1 polymorphism in relation to asthma, atopy or asthma severity confirm the uncertain role of those genes in the development of asthma. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
202,
5
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
244,
5
]
} |
When ArKO mice were fed chow diets supplemented with 0.1% or 1% (w/w) BPA for 5 months, they were protected from ovarian degeneration, uterine diminution and bone loss in a dose-dependent manner. | NA | {
"id": 667,
"name": "DST",
"pos": [
70,
3
]
} | {
"id": "C0029453",
"name": "Osteopenia",
"pos": [
158,
9
]
} |
In an effort to identify gene(s) whose variant(s) are involved in the development of asthma, we examined the genetic effects of 19 single nucleotide polymorphisms in eight cytokine and cytokine receptor genes, including IL1A, IL1B, IL2, IL3, IL4, IL8, IL10, and IL5RA, on asthma and atopy. | NA | {
"id": 3565,
"name": "IL4",
"pos": [
242,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
283,
5
]
} |
Plasmatic tumor necrosis factor-β and interferon-γ were higher in DEB patients than in HCs (P = 0.0448 and 0.0229). | biomarker | {
"id": 3458,
"name": "IFNG",
"pos": [
38,
12
]
} | {
"id": "C0079294",
"name": "Epidermolysis Bullosa Dystrophica",
"pos": [
66,
3
]
} |
When compared with the findings in other soft tissue tumors such as well-differentiated liposarcoma and low-grade malignant fibrous histiocytoma, the chromosome banding and in situ hybridization data add support to the notion that SEF is a relatively low grade variant of fibrosarcoma. | NA | {
"id": 54756,
"name": "IL17RD",
"pos": [
231,
3
]
} | {
"id": "C0037579",
"name": "Soft Tissue Neoplasms",
"pos": [
41,
18
]
} |
The effect of Ehm2 expression on collagen IV adhesion was tested by transient overexpression and RNA interference. | NA | {
"id": 54566,
"name": "EPB41L4B",
"pos": [
14,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
45,
8
]
} |
Inhibitors of p38 decreased hypoxic induction of endoglin expression, as did dominant negative MAPK kinase 3 (MKK3), which activates p38. | NA | {
"id": 2022,
"name": "ENG",
"pos": [
49,
8
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
28,
7
]
} |
Modelling of Hook3 deficiency in cultured cells leads to slowing of endosomal transport and increases β-amyloid production. | NA | {
"id": 84376,
"name": "HOOK3",
"pos": [
13,
5
]
} | {
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
104,
7
]
} |
The distribution of gene variants of the antigen processing proteins transporter associated with antigen processing type 1 (TAP1) and proteasome subunit beta type 9 (PSMB9) and of their shared bidirectional promoter was assessed in children with either mild or severe malaria. | NA | {
"id": 5698,
"name": "PSMB9",
"pos": [
166,
5
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
253,
4
]
} |
Bisulfite sequencing of the proximal promoter region of p16INK4a showed a decrease in 5-methylcytosine following in vitro exposure to ischemia. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
56,
8
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
134,
8
]
} |
Genotype IL-1RN*2 is associated with the risk of development of septic shock in children with acute lymphoblastic leukemia. | NA | {
"id": 3557,
"name": "IL1RN",
"pos": [
9,
6
]
} | {
"id": "C0036983",
"name": "Septic Shock",
"pos": [
64,
12
]
} |
Exome capture was performed in a boy who developed Leigh disease following a gastroenteritis and had combined PDH and α-KGDH deficiency with a unique amino acid profile that partly ressembled E3 subunit (dihydrolipoamide dehydrogenase / DLD) deficiency. | NA | {
"id": 1738,
"name": "DLD",
"pos": [
237,
3
]
} | {
"id": "C0017160",
"name": "Gastroenteritis",
"pos": [
77,
15
]
} |
The patients were divided into three groups: one with clinical signs of cervical insufficiency, one positive for the lupus anticoagulant (LAC) and an idiopathic group. | NA | {
"id": 3938,
"name": "LCT",
"pos": [
138,
3
]
} | {
"id": "C4321325",
"name": "Lupus anticoagulant -- finding",
"pos": [
117,
19
]
} |
can suppress NAFLD induced upregulation of blood sugar, serum insulin, insulin resistance in- dex and serum and hepatic IL-18 levels in fatty liver rats, which may contribute to its effect in relieving polysaccharide attack induced liver damage. | NA | {
"id": 3606,
"name": "IL18",
"pos": [
120,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
71,
18
]
} |
The frequency of GSTT1 null genotype in cancer cases (43.16%) was not significantly different from that in controls (50.00%). | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
17,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
40,
6
]
} |
The main clinical symptoms of exon 4[664(ATT-->ACT) were micropenis, slight hypospadias and augmentation of breasts. | NA | {
"id": 11332,
"name": "ACOT7",
"pos": [
47,
3
]
} | {
"id": "C0848558",
"name": "Hypospadias",
"pos": [
76,
11
]
} |
Furthermore, the polymorphisms in both genes showed some additive effect and the highest risk for head and neck cancer was observed in those with MMP2 CC genotype and TIMP2 variant GC or CC genotype (OR, 2.34; 95% CI, 1.31-4.18). | genomic_alterations | {
"id": 7077,
"name": "TIMP2",
"pos": [
167,
5
]
} | {
"id": "C0278996",
"name": "Malignant Head and Neck Neoplasm",
"pos": [
98,
20
]
} |
Patients with RAI1 mutation were more likely to exhibit overeating, obesity, polyembolokoilamania, self-hugging, muscle cramping, and dry skin and less likely to have short stature, hearing loss, frequent ear infections, and heart defects when compared with patients with deletion, while a subset of small deletion cases with deletions spanning from TNFRSF13B to MFAP4 was less likely to exhibit brachycephaly, dental anomalies, iris abnormalities, head-banging, and hyperactivity. | NA | {
"id": 23495,
"name": "TNFRSF13B",
"pos": [
350,
9
]
} | {
"id": "C0013336",
"name": "Dwarfism",
"pos": [
167,
13
]
} |
Fragile X-associated tremor/ataxia syndrome, a neurodegenerative disorder associated with premutation alleles (55-200 CGG repeats) of the FMR1 gene, affects many carriers in late-life. | genomic_alterations | {
"id": 2332,
"name": "FMR1",
"pos": [
138,
4
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
47,
26
]
} |
To study the effect of apolipoprotein E epsilon4 status on biomarkers of neurodegeneration (atrophy on magnetic resonance imaging [MRI]), neuronal injury (cerebrospinal fluid [CSF] t-tau), and brain Abeta amyloid load (CSF Abeta(1-42)) in cognitively normal subjects (CN), amnestic subjects with mild cognitive impairment (aMCI), and patients with Alzheimer disease (AD). | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
131,
3
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
92,
7
]
} |
The penetrance of FLG null mutations with respect to flexural eczema was 55.6% in individuals with two mutations, 16.3% in individuals with one mutation and 14.2% in wild-type individuals. | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
18,
3
]
} | {
"id": "C0263224",
"name": "Flexural atopic dermatitis",
"pos": [
53,
15
]
} |
In conclusion, our results demonstrated that miR-221 regulated cardiomyocyte hypertrophy probably through down-regulation of p27, suggesting that miR-221 may be a new intervention target for cardiac hypertrophy. | NA | {
"id": 10671,
"name": "DCTN6",
"pos": [
125,
3
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
191,
19
]
} |
In summary, PSMB4 may be recognized as an efficacious prognostic marker and potential therapeutic target for breast cancer. | biomarker | {
"id": 5692,
"name": "PSMB4",
"pos": [
12,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
109,
13
]
} |
This study independently replicates our prior results of LPL haplotypes 1 and 4 as associated with measures of insulin sensitivity and resistance, respectively. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
57,
3
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
111,
19
]
} |
When compared to other retinal ciliopathies, MAK-associated RP appears to be relatively mild and shows remarkable resemblance to RP1-associated RP, which could be explained by the close functional relation of these proteins. | NA | {
"id": 57538,
"name": "ALPK3",
"pos": [
45,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
88,
4
]
} |
In stratified analysis, effect of alcohol consumption on pancreatic cancer was observed in individuals with the MTHFR 667 CC, MTR 2756 AA, or MTRR 66 G allele. | NA | {
"id": 4552,
"name": "MTRR",
"pos": [
142,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
34,
19
]
} |
We conclude that P-gp is differentially expressed during oral tumorigenesis, and may be an indicator of the biological behavior of oral malignancies. | NA | {
"id": 5243,
"name": "ABCB1",
"pos": [
17,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
62,
13
]
} |
Hence, E2f1 deletion diminishes tumorigenesis following Rb1 loss. | NA | {
"id": 1869,
"name": "E2F1",
"pos": [
7,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
32,
13
]
} |
No differences in the number of expanded clones were noted between asymptomatic carriers and in patients with HAM/TSP and there was no obvious restriction in the TCR V region usage. | NA | {
"id": 7057,
"name": "THBS1",
"pos": [
114,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
67,
12
]
} |
To evaluate the association between paired box 9 (PAX9) gene polymorphisms and tooth agenesis in isolated humans, we performed a comprehensive meta-analysis. | NA | {
"id": 5083,
"name": "PAX9",
"pos": [
50,
4
]
} | {
"id": "C4083050",
"name": "Tooth agenesis",
"pos": [
79,
14
]
} |
TED differs from other causes of orbital fat inflammation because fibrosis is not a major component. | NA | {
"id": 27112,
"name": "FAM155B",
"pos": [
0,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
45,
12
]
} |
We also examined a Spanish family with head and neck paragangliomas with a young age of onset for the presence of SDHAF2 mutations, undertook haplotype analysis in this kindred, and assessed their clinical phenotype. | genomic_alterations | {
"id": 54949,
"name": "SDHAF2",
"pos": [
114,
6
]
} | {
"id": "C0030421",
"name": "Paraganglioma",
"pos": [
53,
14
]
} |
In an analysis of a national population-based cancer database, surgery followed by adjuvant chemotherapy with or without radiation for cT1-3 N1 SCLC had improved outcomes compared with concurrent chemoradiation. | biomarker | {
"id": 4102,
"name": "MAGEA3",
"pos": [
135,
5
]
} | {
"id": "C0149925",
"name": "Small cell carcinoma of lung",
"pos": [
144,
4
]
} |
In this study, we investigate the role of β-catenin in hypoxia-induced EMT in hepatocellular carcinoma (HCC). | NA | {
"id": 3702,
"name": "ITK",
"pos": [
71,
3
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
78,
24
]
} |
The recurrent translocation t(8;16)(p11;p13) is a cytogenetic hallmark for the M4/M5 subtype of acute myeloid leukaemia. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
40,
3
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
96,
23
]
} |
Our results suggest that testing for IL28B genotypes and viral load at weeks 1 and 2 may improve the ability to predict an SVR among hepatitis C virus genotype 1 patients; this information may be useful to ensure patient compliance with treatment. | NA | {
"id": 282617,
"name": "IFNL3",
"pos": [
37,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
57,
10
]
} |
Treatment of melanoma with a serotype 5/3 chimeric oncolytic adenovirus coding for GM-CSF: Results in vitro, in rodents and in humans. | NA | {
"id": 1437,
"name": "CSF2",
"pos": [
83,
6
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
61,
10
]
} |
In addition, we investigated 25 premalignant lesions adjacent to BA derived from a subset of 14 resection specimens including 11 areas of high grade dysplasia (HGD), 8 areas of low grade dysplasia (LGD), and 6 areas of intestinal metaplasia (IM), which were laser-microdissected and studied with CGH. | NA | {
"id": 3081,
"name": "HGD",
"pos": [
160,
3
]
} | {
"id": "C0032927",
"name": "Precancerous Conditions",
"pos": [
32,
12
]
} |
In this study, we screened for the amyloid beta precursor protein (APP) 665 (glutamic acid to aspartic acid), 670/671 (lysine to asparagine and methionine to leucine) and 717 (valine to isoleucine) mutations in 34 persons affected with familial Alzheimer's disease (AD) and 139 with sporadic AD, originating from eastern Finland, using polymerase chain reaction amplification and restriction enzyme digestion. | NA | {
"id": 351,
"name": "APP",
"pos": [
67,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
283,
8
]
} |
The presence of additional thrombophilic risk factors such as Factor V Leiden or prothrombin gene mutation G20210A contributed to a higher risk of VTE. | genomic_alterations | {
"id": 2153,
"name": "F5",
"pos": [
62,
15
]
} | {
"id": "C1260403",
"name": "prothrombin gene mutation",
"pos": [
81,
25
]
} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.