text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
To investigate whether the insertion/deletion polymorphism of the ACE gene modifies blood pressure differences among subjects using diuretics, beta-blockers, calcium-channel antagonists, or ACE inhibitors.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
66,
8
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
84,
14
]
}
|
This study prospectively describes the longitudinal changes in urinary PlGF alongside serum angiogenic markers throughout pregnancy in women with preexisting diabetes.
|
biomarker
|
{
"id": 5228,
"name": "PGF",
"pos": [
71,
4
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
158,
8
]
}
|
Here, we report two polymorphisms in the promoter region of PAX 9 gene that are associated with hypodontia.
|
genomic_alterations
|
{
"id": 5083,
"name": "PAX9",
"pos": [
60,
5
]
}
|
{
"id": "C0020608",
"name": "Hypodontia",
"pos": [
96,
10
]
}
|
Here, we report the first germline missense mutation in the PIGA gene associated with accelerated linear growth, obesity, central hypotonia, severe refractory epilepsy, cardiac anomalies, mild facial dysmorphic features, mildly elevated alkaline phosphatase levels, and CNS anomalies consisting of progressive cerebral atrophy, insufficient myelinization, and cortical MRI signal abnormalities.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
369,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
380,
13
]
}
|
All Swedish Jervell and Lange-Nielsen cases with double KCNQ1 mutations (14 cases) were investigated by medical record review, an interview, and were offered laboratory testing for iron-deficiency anaemia and gastrointestinal markers.
|
NA
|
{
"id": 3784,
"name": "KCNQ1",
"pos": [
56,
5
]
}
|
{
"id": "C0041782",
"name": "Deficiency anemias",
"pos": [
186,
18
]
}
|
Herein, we demonstrate that p53 loss-of-function or mutation promotes cancer cell EMT by de-repressing Snail1 protein expression and activity.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
28,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
70,
6
]
}
|
Deficiency of the tumor suppressor protein merlin leads to the development of benign tumors of the nervous system such as schwannomas, ependymomas and meningiomas.
|
genomic_alterations
|
{
"id": 4771,
"name": "NF2",
"pos": [
43,
6
]
}
|
{
"id": "C0086692",
"name": "Benign Neoplasm",
"pos": [
78,
35
]
}
|
Melatonin receptor 1A (MTNR1A) gene is a regulator of circadian rhythms and reproductive processes.
|
NA
|
{
"id": 4543,
"name": "MTNR1A",
"pos": [
23,
6
]
}
|
{
"id": "C0008810",
"name": "Circadian Rhythms",
"pos": [
54,
17
]
}
|
We describe here the molecular characterization of the t(8;13) translocation that involves the FGFR1 gene from 8p12, encoding a tyrosine kinase receptor for members of the fibroblast growth factor family, and a gene from 13q12, tentatively named FIM (Fused In Myeloproliferative disorders).
|
NA
|
{
"id": 2260,
"name": "FGFR1",
"pos": [
95,
10
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
63,
13
]
}
|
Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases.
|
genomic_alterations
|
{
"id": 3110,
"name": "MNX1",
"pos": [
6,
4
]
}
|
{
"id": "C1611743",
"name": "Familial (FPAH)",
"pos": [
46,
8
]
}
|
Gene expression patterns characteristic to embryonic stem cells are also found deregulated in TGC tumorigenesis.
|
NA
|
{
"id": 7052,
"name": "TGM2",
"pos": [
94,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
98,
13
]
}
|
In a combination of cell-based and synovial sarcoma tumor xenograft models, we show that inhibition of the Wnt cascade through coreceptor blockade and the use of small-molecule CK1α activators arrests synovial sarcoma tumor growth.
|
NA
|
{
"id": 1452,
"name": "CSNK1A1",
"pos": [
177,
4
]
}
|
{
"id": "C0039101",
"name": "synovial sarcoma",
"pos": [
201,
16
]
}
|
Because of these cytogenetic aberrations the HMGI-C gene (HGMW-approved symbol HMGIC) becomes rearranged, with most of the breakpoints located in the large intron 3.
|
NA
|
{
"id": 8091,
"name": "HMGA2",
"pos": [
79,
5
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
17,
23
]
}
|
The cholesterol-dependent cytolysin pneumolysin and the bacterial capsule are key pathogenic factors, known to exacerbate the course of pneumococcal meningitis.
|
biomarker
|
{
"id": 5551,
"name": "PRF1",
"pos": [
26,
9
]
}
|
{
"id": "C0025295",
"name": "Meningitis, Pneumococcal",
"pos": [
136,
23
]
}
|
Simultaneous up-regulation of expression of CD55 and CD59 may serve to protect hepatocytes from high local concentrations of complement generated during the acute-phase response.
|
NA
|
{
"id": 1604,
"name": "CD55",
"pos": [
44,
4
]
}
|
{
"id": "C0001349",
"name": "Acute-Phase Reaction",
"pos": [
157,
20
]
}
|
Our findings suggest that insulin resistance and blood pressure are linked to altered shedding of TNF-alpha receptors in DM-2.
|
NA
|
{
"id": 7124,
"name": "TNF",
"pos": [
98,
9
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
49,
14
]
}
|
Over-expression of Raf by 4OHT treatment in K14-Raf:ER;K5-Cre.Stat3(flox/flox) mice greatly attenuated the epidermal hyperplasia and dermal cell infiltrates compared with K14-Raf:ER;K5-Cre.Stat3(flox/WT) mice.
|
NA
|
{
"id": 3861,
"name": "KRT14",
"pos": [
44,
3
]
}
|
{
"id": "C0263641",
"name": "Epithelial hyperplasia of skin",
"pos": [
107,
21
]
}
|
Electrophysiological evidence of neuropathy was highest in SCA1 (96.4%), followed by SCA3 (94.1% and SCA2 (87.5%).
|
genomic_alterations
|
{
"id": 4061,
"name": "LY6E",
"pos": [
101,
4
]
}
|
{
"id": "C0442874",
"name": "Neuropathy",
"pos": [
33,
10
]
}
|
Toll-like receptor 2 Arg677Trp polymorphism is associated with susceptibility to tuberculosis in Tunisian patients.
|
NA
|
{
"id": 7097,
"name": "TLR2",
"pos": [
0,
20
]
}
|
{
"id": "C0429908",
"name": "Susceptibility to tuberculosis",
"pos": [
63,
30
]
}
|
These data suggest that in addition to the absence of the tumour-suppressor protein BRCA1, over-expression of wild-type Rad51 also contributes to the pathogenesis of a significant percentage of sporadic breast cancers and that other mechanisms than mutations must be responsible for this altered expression.
|
NA
|
{
"id": 5888,
"name": "RAD51",
"pos": [
120,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
194,
8
]
}
|
Both biopsied tissues were negative for microsatellite instability, and expressed MLH1, MSH2, PMS2, MSH6, and MLH3 immunohistochemically.
|
NA
|
{
"id": 5395,
"name": "PMS2",
"pos": [
94,
4
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
40,
26
]
}
|
Analysis of TP53 (rs1042522) showed a significantly higher frequency in cancer samples (OR=1.22, 95%CI=1.004-1.481, p-value=0.016) while differences in frequency were not significant within each group (p-value=0.070).
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
12,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
72,
6
]
}
|
Our results indicate that the APAF1, BAX, and FLASH genes not only harbor frameshift mutations but also demonstrate mutational ITH, which together might play a role in the tumorigenesis of CRC with MSI-H by affecting the apoptosis of cancer cells.
|
NA
|
{
"id": 9994,
"name": "CASP8AP2",
"pos": [
46,
5
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
172,
13
]
}
|
Nfia is expressed in the developing ureter and metanephric mesenchyme, and Nfia(+/-) and Nfia(-/-) mice exhibit abnormalities of the ureteropelvic and ureterovesical junctions, as well as bifid and megaureter.
|
NA
|
{
"id": 4774,
"name": "NFIA",
"pos": [
89,
4
]
}
|
{
"id": "C0521620",
"name": "Dilatation of ureter",
"pos": [
198,
10
]
}
|
Moreover, the expression of the CXC chemokine genes as well as CREB and NF-kappaB activities was greatly increased in the tumorigenic NSCLC cell line compared with normal, premalignant immortalized or nontumorigenic cell lines.
|
NA
|
{
"id": 4790,
"name": "NFKB1",
"pos": [
72,
9
]
}
|
{
"id": "C0032927",
"name": "Precancerous Conditions",
"pos": [
172,
12
]
}
|
These findings demonstrate the development of tumor specific CD8+ T cells by AdCD40L and support the further development of AdCD40L for the treatment of malignant mesothelioma.
|
NA
|
{
"id": 925,
"name": "CD8A",
"pos": [
61,
3
]
}
|
{
"id": "C0345967",
"name": "Malignant mesothelioma",
"pos": [
153,
22
]
}
|
We have previously shown that the receptor tyrosine kinase (RTK) MET frequently suffers gain-of-function mutations that significantly promote lung tumorigenesis.
|
NA
|
{
"id": 4233,
"name": "MET",
"pos": [
65,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
147,
13
]
}
|
Plasma Apo-E levels show a mild correlation with CSF Apo-E levels, but were not associated with longitudinal cognitive and MRI changes.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
123,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
27,
4
]
}
|
Comparing the 6q24 abnormality and KCNJ11 mutation, there were some significant clinical differences: the earlier onset of diabetes, the lower frequency of diabetic ketoacidosis at onset, and the higher proportion of the patients with macroglossia at initial presentation in the patients with 6q24 abnormality.
|
genomic_alterations
|
{
"id": 3767,
"name": "KCNJ11",
"pos": [
35,
6
]
}
|
{
"id": "C0011880",
"name": "Diabetic Ketoacidosis",
"pos": [
156,
21
]
}
|
The present study aimed to examine the effects of LFG-500 on human ovarian cancer SKOV3 cells, as well as to identify its underlying mechanisms.
|
biomarker
|
{
"id": 23017,
"name": "FAIM2",
"pos": [
50,
3
]
}
|
{
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
67,
14
]
}
|
The potential role of THSD7A in tumor development and therapy needs further investigation.
|
biomarker
|
{
"id": 221981,
"name": "THSD7A",
"pos": [
22,
6
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
32,
5
]
}
|
Our results provide suggestive findings for an association with either familial or sporadic prostate cancer with polymorphisms in four genes: AKR1C3, HSD17B1, NQO1, and GSTT1.
|
NA
|
{
"id": 1728,
"name": "NQO1",
"pos": [
159,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
83,
8
]
}
|
Effect of beta-adrenergic receptor antagonists on nicotine-induced tail-tremor in rats.
|
therapeutic
|
{
"id": 154,
"name": "ADRB2",
"pos": [
10,
24
]
}
|
{
"id": "C0234371",
"name": "Continuous Tremor",
"pos": [
72,
6
]
}
|
In support to the observations on predominantly vascular targeted effects of endoglin, histological analysis has demonstrated an increase in necrosis and a decrease in the number of blood vessels in therapeutic groups.
|
NA
|
{
"id": 2022,
"name": "ENG",
"pos": [
77,
8
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
141,
8
]
}
|
Amiodarone exposure during modest inflammation induces idiosyncrasy-like liver injury in rats: role of tumor necrosis factor-alpha.
|
therapeutic
|
{
"id": 7124,
"name": "TNF",
"pos": [
102,
28
]
}
|
{
"id": "C0019193",
"name": "Hepatitis, Toxic",
"pos": [
34,
12
]
}
|
Upregulation of secretory HMGB1 may contribute to suppression of antitumor immunity through induction of Tregs in the NB microenvironment.
|
biomarker
|
{
"id": 3146,
"name": "HMGB1",
"pos": [
26,
5
]
}
|
{
"id": "C0700095",
"name": "Central neuroblastoma",
"pos": [
118,
2
]
}
|
In human proteinuric kidney diseases such as diabetic nephropathy and focal segmental glomerulosclerosis, we observed upregulation of Wnt1 and active beta-catenin in podocytes.
|
NA
|
{
"id": 1499,
"name": "CTNNB1",
"pos": [
150,
12
]
}
|
{
"id": "C0017668",
"name": "Focal glomerulosclerosis",
"pos": [
70,
34
]
}
|
Our findings support a regulatory contribution of ING1 to the development or progression of brain tumours.
|
biomarker
|
{
"id": 3621,
"name": "ING1",
"pos": [
50,
4
]
}
|
{
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
92,
13
]
}
|
The common genes up-regulated by Y15 included GADD45A, HSPA6 (heat-shock 70); DUSP1, DUSP 5 (dual-phosphatase 5); CDKN1A (p21) and common down-regulated genes included kinesins, such as KIF11, 14, 20A, 20B; topoisomerase II, TOP2A; cyclin F; cell cycle protein: BUB1; PARP1, POLA1.
|
NA
|
{
"id": 3310,
"name": "HSPA6",
"pos": [
55,
5
]
}
|
{
"id": "C0036974",
"name": "Shock",
"pos": [
67,
5
]
}
|
Mutations in SDHB and SDHD were identified in equal proportion in 13/13 (100%) of familial and in 15/61 (25%) of sporadic cases.
|
NA
|
{
"id": 6392,
"name": "SDHD",
"pos": [
22,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
113,
8
]
}
|
The expression of 14-3-3 zeta was associated with the degree of cancer peritoneal metastasis, the emergence of ascites, bilateral involvement, and the clinical stage and substage.
|
NA
|
{
"id": 7534,
"name": "YWHAZ",
"pos": [
18,
11
]
}
|
{
"id": "C0003962",
"name": "Ascites",
"pos": [
111,
7
]
}
|
Intrastriatal injection of sonic hedgehog reduces behavioral impairment in a rat model of Parkinson's disease.
|
therapeutic
|
{
"id": 6469,
"name": "SHH",
"pos": [
27,
14
]
}
|
{
"id": "C0030569",
"name": "Secondary Parkinson Disease",
"pos": [
90,
19
]
}
|
Human immunodeficiency virus type 1 (HIV-1)-specific CD8(+) responses contribute to the decline in acute peak viremia following infection.
|
NA
|
{
"id": 925,
"name": "CD8A",
"pos": [
53,
3
]
}
|
{
"id": "C0042749",
"name": "Viremia",
"pos": [
110,
7
]
}
|
Comparatively high frequency of CDKN2A alterations (except homozygous deletion) was found in dysplastic head and neck lesions and remained almost constant or increased during progression of the tumour, whereas the homozygous deletion of CDKN2A and the alterations in CCND1 and RB1 genes were seen mainly in the later stages of the tumour.
|
genomic_alterations
|
{
"id": 5925,
"name": "RB1",
"pos": [
277,
3
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
331,
6
]
}
|
CFNS shows a unique X-linked inheritance pattern (most affected patients are female and obligate male carriers exhibit a mild manifestation or no typical features at all) associated with the ephrin-B1 gene (EFNB1) located in the Xq13.1 region.
|
NA
|
{
"id": 1947,
"name": "EFNB1",
"pos": [
207,
5
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
121,
4
]
}
|
In CAD patients not taking LLD, the G/G genotype of the -572C>G polymorphism was associated with greater concentrations of IL-6 (C/C: 4.1 +/- 0.8 pg/mL, C/G: 3.7 +/- 0.7, G/G: 12.4 +/- 6.6; P = 0.031), C-reactive protein (CRP) (C/C: 1.9 +/- 0.4 mg/dL, C/G: 2.7 +/- 0.8, G/G: 10.1 +/- 3.9; P = 0.002), fibrinogen (C/C: 334 +/- 6 mg/dL, C/G: 345 +/- 13, G/G: 429 +/- 38; P = 0.003), and oxidized low-density lipoprotein (ox-LDL) (C/C: 59 +/- 2 mg/dL, C/G: 55 +/- 3, G/G: 71 +/- 6; P = 0.041) than those with C/C or C/G.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
222,
3
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
301,
10
]
}
|
Only two UBQLN1 coding variants were detected in the familial and sporadic ALS DNA set; one, the missense mutation p.E54D, was identified in a single patient with atypical motor neuron disease consistent with Brown-Vialetto-Van Laere syndrome (BVVLS), for whom c20orf54 mutations had been excluded.
|
NA
|
{
"id": 113278,
"name": "SLC52A3",
"pos": [
261,
8
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
66,
8
]
}
|
In nephrotic-range proteinuria, filtered plasminogen reaches the luminal side of DCT, where it is cleaved into active plasmin by urokinase.
|
NA
|
{
"id": 1638,
"name": "DCT",
"pos": [
81,
3
]
}
|
{
"id": "C0033687",
"name": "Proteinuria",
"pos": [
19,
11
]
}
|
Neuromedin U (NMU) activates two G protein-coupled receptors, NMUR1 and NMUR2; this signaling not only controls many physiological responses but also promotes tumorigenesis in diverse tissues.
|
NA
|
{
"id": 56923,
"name": "NMUR2",
"pos": [
72,
5
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
159,
13
]
}
|
Higher levels of factor VIIc, VIIIc, fibrinogen, von Willebrand factor, and protein C were associated with ESRD risk, with a significantly stronger association of factor VIIIc and protein C in African Americans with two APOL1 risk alleles.
|
NA
|
{
"id": 8542,
"name": "APOL1",
"pos": [
220,
5
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
37,
10
]
}
|
To evaluate the application of the LAMP assay for clinical diagnosis, we tested clinical samples from 40 genital herpes patients and 20 ocular herpes patients.
|
NA
|
{
"id": 27074,
"name": "LAMP3",
"pos": [
35,
4
]
}
|
{
"id": "C0019357",
"name": "Keratitis, Herpetic",
"pos": [
136,
13
]
}
|
Ten genes (LPA, NOX3, SNX9, VIL2, VIP, ADAM8, DOCK1, FANK1, GPR123 and PTPRE) were selected for a subsequent association study performed in a large SLSJ sample (n = 1167) of individuals tested for asthma and atopy related phenotypes.
|
NA
|
{
"id": 27151,
"name": "CPAMD8",
"pos": [
34,
3
]
}
|
{
"id": "C0004096",
"name": "Asthma",
"pos": [
197,
6
]
}
|
Conclusively, truncating mutations within the P0 intracellular domain do not necessarily cause a severe phenotype such as Dejerine-Sottas syndrome (DSS) or congenital hypomyelinating neuropathy (CHN), but can result in mild or moderate CMT1B with intrafamilial clinical variability.
|
NA
|
{
"id": 1123,
"name": "CHN1",
"pos": [
195,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
219,
4
]
}
|
The diagnosis of AML M3 variant was made only after genotypic analyses revealed the PML/RAR alpha rearrangement associated with the typical (15;17) (q22;q21) translocation.
|
NA
|
{
"id": 10966,
"name": "RAB40B",
"pos": [
89,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
159,
13
]
}
|
We studied the associations of ADIPOQ, ADIPOR1, and ADIPOR2 polymorphisms with resting metabolic rate, RQ, and body mass index, percentage body fat, sum of 6 skinfold thicknesses, waist circumference, and total, subcutaneous, and visceral fat in 759 participants in the Québec Family Study.
|
NA
|
{
"id": 51094,
"name": "ADIPOR1",
"pos": [
39,
7
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
111,
15
]
}
|
The influence of transforming growth factor beta (TGF-beta) signaling on Neu-induced mammary tumorigenesis and metastasis was examined with transgenic mouse models.
|
NA
|
{
"id": 7040,
"name": "TGFB1",
"pos": [
50,
8
]
}
|
{
"id": "C1512981",
"name": "Mammary Tumorigenesis",
"pos": [
85,
21
]
}
|
Cells expressing a wild-type BRC4 repeat showed hypersensitivity to gamma-irradiation, an inability to form Rad51 radiation-induced foci, and a failure of radiation-induced G(2)/M, but not G(1)/S, checkpoint control.
|
NA
|
{
"id": 5888,
"name": "RAD51",
"pos": [
108,
5
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
48,
16
]
}
|
Education, tobacco smoking, alcohol consumption, and IL-2 and IL-6 gene polymorphisms in the survival of head and neck cancer.
|
genomic_alterations
|
{
"id": 3558,
"name": "IL2",
"pos": [
53,
4
]
}
|
{
"id": "C0278996",
"name": "Malignant Head and Neck Neoplasm",
"pos": [
105,
20
]
}
|
We tested the effect of a novel A3AR agonist generically known as LJ-529 in breast cancer cells.
|
NA
|
{
"id": 140,
"name": "ADORA3",
"pos": [
32,
4
]
}
|
{
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
76,
13
]
}
|
In contrast, the CD44+CD24-/low population expansion is HIF1α independent and requires prolyl hydroxylase 3 (PHD3) downregulation, which mimics hypoxic conditions, leading to reduced CD24 expression through activation of NFkB signaling.
|
NA
|
{
"id": 100133941,
"name": "CD24",
"pos": [
183,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
144,
7
]
}
|
Overexpression of NFIL3 attenuates excitotoxic neuronal damage and protects neurons against neurodegeneration in a cell-based ALS model.
|
NA
|
{
"id": 4783,
"name": "NFIL3",
"pos": [
18,
5
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
92,
17
]
}
|
NOTCH2 mutations lead to the development of Alagille syndrome, while mutations in NOTCH3 cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
|
genomic_alterations
|
{
"id": 4853,
"name": "NOTCH2",
"pos": [
0,
6
]
}
|
{
"id": "C0085280",
"name": "Alagille Syndrome",
"pos": [
44,
17
]
}
|
The specific mitogen-activated protein kinase kinase 1/2 inhibitor U0126 prevented ERK activation and attenuated focal adhesion kinase, paxillin, and Src phosphorylation, focal adhesion restructuring, and ischemia/reperfusion-induced renal injury.
|
NA
|
{
"id": 5604,
"name": "MAP2K1",
"pos": [
13,
41
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
205,
8
]
}
|
ALC compared to non-ALC patients had higher body mass index (28.1 vs. 25.5 kg/m², p < 0.001), higher prevalence of diabetes mellitus (41% vs. 25%, p = 0.017), and PNPLA3 CG + GG genotype (73% vs. 47%, p = 0.006), and had elevated TE (6.3 vs. 5.4 kPa, p = 0.022), CAP (266 vs. 221 dB/m, p = 0.001), and NAFLD fibrosis score (score -0.5 vs. -1.3, p < 0.001).
|
NA
|
{
"id": 55821,
"name": "ALLC",
"pos": [
20,
3
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
44,
15
]
}
|
Long-term NUC therapy may lead to a decline of non-invasive indices of hepatic fibrosis in HCC patients.
|
biomarker
|
{
"id": 4924,
"name": "NUCB1",
"pos": [
10,
3
]
}
|
{
"id": "C0239946",
"name": "Fibrosis, Liver",
"pos": [
71,
16
]
}
|
Thus, age-dependent loss of transsynaptic Zn(2+) movement leads to cognitive loss, and since extracellular beta-amyloid is aggregated by and traps this pool of Zn(2+), the genetic ablation of ZnT3 may represent a phenocopy for the synaptic and memory deficits of AD.
|
NA
|
{
"id": 7781,
"name": "SLC30A3",
"pos": [
192,
4
]
}
|
{
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
112,
7
]
}
|
A CpG site located in a novel smoking-associated gene (cg06394460 in LNX2) was hypomethylated in current smokers.
|
NA
|
{
"id": 222484,
"name": "LNX2",
"pos": [
69,
4
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
30,
7
]
}
|
No point mutations of the K-ras gene at codon 12 were seen in subjects who had never smoked, whereas they were present (mostly G:C --> T:A transversions) in 34% of tumours caused by smoking (P = 0.002).
|
NA
|
{
"id": 3845,
"name": "KRAS",
"pos": [
26,
10
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
182,
7
]
}
|
Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial.
|
genomic_alterations
|
{
"id": 55364,
"name": "IMPACT",
"pos": [
127,
6
]
}
|
{
"id": "C0280100",
"name": "Solid Neoplasm",
"pos": [
32,
12
]
}
|
Reduced hippocampal CA2, CA3, and dentate gyrus activity in asymptomatic people at genetic risk for Alzheimer's disease.
|
NA
|
{
"id": 760,
"name": "CA2",
"pos": [
20,
3
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
60,
12
]
}
|
There were no differences in age or height between the two groups, but weight (P = 0·007) and BMI (P = 0·001) were lower in MUT/N.
|
NA
|
{
"id": 4594,
"name": "MMUT",
"pos": [
124,
3
]
}
|
{
"id": "C0489786",
"name": "Height",
"pos": [
36,
6
]
}
|
We have extended our LOH analysis of chromosome 3p to include 102 ovarian tumor specimens (29 and 73 samples were previously examined for LOH of chromosome 3p and 17 markers, respectively), using additional polymorphic markers, to assess the coordinate LOH of loci representing the three chromosome 3p minimal regions of deletions [von Hippel-Lindau syndrome (VHL), thyroid hormone receptor beta, and fragile histidine triad (FHIT)] and LOH of other important loci [tumor protein 53 (TP53), breast cancer 1 early onset (BRCA1), breast cancer 2 early onset, retinoblastoma 1, ornithine carbamoyltransferase, and androgen receptor] or somatic mutations in TP53.
|
NA
|
{
"id": 5009,
"name": "OTC",
"pos": [
575,
30
]
}
|
{
"id": "C0035335",
"name": "Retinoblastoma",
"pos": [
557,
14
]
}
|
In view of the role of sarcoplasmic reticular (SR) abnormalities in cardiac dysfunction due to ischemia-reperfusion (I/R), we examined the effects of beta-AR blockers on the I/R-induced changes in SR Ca(2+) uptake and release, as well as the protein contents and gene expression of ryanodine receptor, SR Ca(2+)-pump, phospholamban, and calsequestrin.
|
NA
|
{
"id": 5350,
"name": "PLN",
"pos": [
318,
13
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
51,
13
]
}
|
FAC treatment also results in increased generation of APP C-terminal fragments C83 and C99, the products of APP proteolysis by α- and β-secretase, respectively, as well as levels of Aβ42, a highly aggregative amyloid species.
|
NA
|
{
"id": 2176,
"name": "FANCC",
"pos": [
0,
3
]
}
|
{
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
209,
7
]
}
|
L-NBP treatment significantly improved the spatial learning and memory deficits compared to the vehicle-treated AβPP/PS1 mice, whereas L-NBP treatment had no effect on cerebral Aβ plaque deposition and Aβ levels in brain homogenates.
|
NA
|
{
"id": 5663,
"name": "PSEN1",
"pos": [
117,
3
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
180,
6
]
}
|
The five patients had overlapping features that support the characteristic features of the SAS: intellectual disability with limited speech development and craniofacial abnormalities including cleft palate, dysmorphic features, and dental abnormalities.
|
NA
|
{
"id": 54187,
"name": "NANS",
"pos": [
91,
3
]
}
|
{
"id": "C0432072",
"name": "Dysmorphic features",
"pos": [
207,
19
]
}
|
Although MPG and losartan had no effect on infarct size in the DR rat heart, MPG but not losartan significantly increased infarct size in the DS rat heart.
|
NA
|
{
"id": 4350,
"name": "MPG",
"pos": [
77,
3
]
}
|
{
"id": "C0021308",
"name": "Infarction",
"pos": [
122,
7
]
}
|
Knowledge of early-onset diabetes (at age 19 years) in their father prompted us to search for the TCF2 mutation.
|
genomic_alterations
|
{
"id": 6928,
"name": "HNF1B",
"pos": [
98,
4
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
25,
8
]
}
|
FPR was estimated in a prospective cohort of 247 CHC patients without alcohol intake and diabetes, with careful estimation of age at infection and determination of fibrosis stage by Ishak score.
|
NA
|
{
"id": 2357,
"name": "FPR1",
"pos": [
0,
3
]
}
|
{
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
89,
8
]
}
|
Using quantitative RT-real time PCR, we found detectable basal expression of all the different human SLFN genes examined (SLFN5, SLFN11, SLFN12, SLFN13, and SLFN14), in malignant melanoma cells and primary normal human melanocytes, but SLFN5 basal expression was suppressed in all analyzed melanoma cell lines.
|
NA
|
{
"id": 91607,
"name": "SLFN11",
"pos": [
129,
6
]
}
|
{
"id": "C0025202",
"name": "melanoma",
"pos": [
169,
18
]
}
|
Circulating levels of moesin were measured in patients admitted to the intensive care unit with sepsis, severe sepsis, and septic shock; these patients showed significantly higher levels of moesin than healthy controls, which was strongly correlated with disease severity.
|
NA
|
{
"id": 4478,
"name": "MSN",
"pos": [
190,
6
]
}
|
{
"id": "C0036983",
"name": "Septic Shock",
"pos": [
123,
12
]
}
|
A genome wide siRNA screen revealed another member of the RIP kinase family, RIP3, to be required for necrosis.
|
NA
|
{
"id": 23164,
"name": "MPRIP",
"pos": [
77,
4
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
102,
8
]
}
|
Wild-type and Pept1 mice were treated with dextran sulfate sodium and 2,4,6-trinitrobenzene sulfonic acid to induce colitis, and MDP-induced cytokine expression was studied in colonic tissue cultures.
|
NA
|
{
"id": 1800,
"name": "DPEP1",
"pos": [
129,
3
]
}
|
{
"id": "C0009319",
"name": "Colitis",
"pos": [
116,
7
]
}
|
We evaluated the benefit of using combined genetic risk score (GRS) of known single nucleotide polymorphisms (SNPs) for body mass index (BMI) and waist/hip ratio (WHR) in the prediction of weight loss and weight regain after obesity surgery.
|
NA
|
{
"id": 597,
"name": "BCL2A1",
"pos": [
63,
3
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
205,
6
]
}
|
Real-time methylation-specific PCR (MSP), assessed as the ratio of methylated AGT copies to internal beta-actin control, was used to quantitate AGT hypermethylation in 32 glioma samples.
|
NA
|
{
"id": 183,
"name": "AGT",
"pos": [
144,
3
]
}
|
{
"id": "C0017638",
"name": "Glioma",
"pos": [
171,
6
]
}
|
Transgenic mice that express a mini-gene version of the human gene for type I procollagen (COL1A1) develop a phenotype resembling a lethal form of osteogenesis imperfecta.
|
genomic_alterations
|
{
"id": 1277,
"name": "COL1A1",
"pos": [
91,
6
]
}
|
{
"id": "C0029434",
"name": "Osteogenesis Imperfecta",
"pos": [
147,
23
]
}
|
Ubiquitous transgenic expression of the IL-23 subunit p19 induces multiorgan inflammation, runting, infertility, and premature death.
|
NA
|
{
"id": 51561,
"name": "IL23A",
"pos": [
40,
5
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
100,
11
]
}
|
In addition, the correlation between XIAP and immortalization-upregulated protein-2 (IMUP-2) was demonstrated in HTR-8/SVneo trophoblasts under hypoxia, based on a previous study showing that increased IMUP-2 induces trophoblast apoptosis and pre-eclampsia.
|
NA
|
{
"id": 64073,
"name": "C19orf33",
"pos": [
202,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
144,
7
]
}
|
The current study examined the relationship of spexin with various biomarkers of cardiovascular disease and endothelial function in adolescents with obesity.
|
biomarker
|
{
"id": 80763,
"name": "SPX",
"pos": [
47,
6
]
}
|
{
"id": "C0007222",
"name": "Cardiovascular Diseases",
"pos": [
81,
22
]
}
|
The chromosomal aberrations of the four CC cell lines were effectively analyzed by RxFISH and FISH with multiple chromosome painting probes.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
94,
4
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
4,
23
]
}
|
We conclude that polymorphisms of FASL and FAS associate with type II diabetes and estimates of insulin resistance in Danish white subjects.
|
NA
|
{
"id": 356,
"name": "FASLG",
"pos": [
34,
4
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
96,
18
]
}
|
Silencing Nox4 prevented TGF-beta1-mediated retinoblastoma protein phosphorylation, proliferation, and cell hypertrophy.
|
NA
|
{
"id": 50507,
"name": "NOX4",
"pos": [
10,
4
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
108,
11
]
}
|
A missense mutation (L265P) changing leucine at position 265 to proline in MYD88 is found in ∼90% of Waldenström macroglobulinemia (WM) cases and in significant portions of activated B-cell diffuse large B-cell lymphomas and IgM monoclonal gammopathy of undetermined significance.
|
genomic_alterations
|
{
"id": 4615,
"name": "MYD88",
"pos": [
75,
5
]
}
|
{
"id": "C0079744",
"name": "Diffuse Large B-Cell Lymphoma",
"pos": [
190,
30
]
}
|
Finally, we discuss how the gathered knowledge about the RAB27A-MLPH-MYO5A tripartite complex can be translated into a possible therapeutic application to reduce (hyper)pigmentation of the skin.
|
NA
|
{
"id": 5873,
"name": "RAB27A",
"pos": [
57,
6
]
}
|
{
"id": "C0031911",
"name": "Pigmentation",
"pos": [
169,
12
]
}
|
Furthermore, DcR3 enhances EC differentiation into cord vascular-like structures in vitro, as well as neovascularization in vivo.
|
NA
|
{
"id": 8771,
"name": "TNFRSF6B",
"pos": [
13,
4
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
102,
18
]
}
|
A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany.
|
genomic_alterations
|
{
"id": 10133,
"name": "OPTN",
"pos": [
8,
10
]
}
|
{
"id": "C0017601",
"name": "Glaucoma",
"pos": [
49,
8
]
}
|
Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghrelin (GHRL-rs26802), ghrelin receptor (GHSR-rs572169), leptin (LEP-rs7799039), leptin receptor (LEPR-rs1137101) and fat mass and obesity-associated (FTO-rs9939609) and obesity.
|
genomic_alterations
|
{
"id": 51738,
"name": "GHRL",
"pos": [
103,
4
]
}
|
{
"id": "C0028754",
"name": "Obesity",
"pos": [
265,
7
]
}
|
In all rats, blood glucose, insulin, hemoglobin A1c (HbA1c), fibrinogen, factor VII (FVII), plasminogen activator inhibitor-1 (PAI-1), fibrin degradation products (FDP), protein C, antithrombin III (ATIII), malondialdehydes (MDA), and antioxidants (superoxide dismutase, catalase, glutathione peroxidase, glutathione) were measured.
|
NA
|
{
"id": 5624,
"name": "PROC",
"pos": [
170,
9
]
}
|
{
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
61,
10
]
}
|
Height-for-age, weight-for-age, and body mass index z scores decreased significantly with age; height- and weight-, but not body mass index-for-age z scores were significantly lower in female subjects with MECP2 mutations than in those without.
|
NA
|
{
"id": 4204,
"name": "MECP2",
"pos": [
206,
5
]
}
|
{
"id": "C1305855",
"name": "Body mass index",
"pos": [
124,
15
]
}
|
Analysis of loss of heterozygosity (LOH) in sporadic RCC samples has implicated roles for TSGs in three specific regions of 3p in RCC development: (1) 3p12-p14, which includes the breakpoint of the familial t(3;8) constitutional translocation involved in hereditary RCC development and a recently cloned putative TSG, the FHIT gene: (2) 3p21.2-p21.3, a common region of deletion in many cancers including lung; and (3) 3p25-p26, which contains the von Hippel-Lindau (VHL) disease TSG.
|
NA
|
{
"id": 1026,
"name": "CDKN1A",
"pos": [
345,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
45,
8
]
}
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.