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|---|---|---|---|
Simultaneous inductions of MEK2 expressions and cell dissociation were observed after the treatment with a conditioned medium (CM) of PC-1.0 cells. | NA | {
"id": 5605,
"name": "MAP2K2",
"pos": [
27,
4
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
53,
12
]
} |
S1P4) and SK1 in cancer, where high expression of these proteins in ER negative breast cancer patient tumours is linked with poor prognosis. | NA | {
"id": 3780,
"name": "KCNN1",
"pos": [
10,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
17,
6
]
} |
Furthermore, the linkage of mutations within the PRNP gene with phenotypic appearance of Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker syndrome points to importance of the PrP gene. | genomic_alterations | {
"id": 7001,
"name": "PRDX2",
"pos": [
187,
3
]
} | {
"id": "C0017495",
"name": "Gerstmann-Straussler-Scheinker Disease",
"pos": [
119,
39
]
} |
Six of 9 single nucleotide polymorphisms in the cell cycle showed significant risks for oral cancer, the highest risk being evident for p27 (rs34329; Odds ratio 3.05, 95% CI 2.12 to 4.40). | genomic_alterations | {
"id": 10534,
"name": "ZNRD2",
"pos": [
136,
3
]
} | {
"id": "C0220641",
"name": "Lip and Oral Cavity Carcinoma",
"pos": [
88,
11
]
} |
Acute smoking exposure induced expression of MUC5AC and Nrf2 in both A549 cells and mouse lungs. | NA | {
"id": 4586,
"name": "MUC5AC",
"pos": [
45,
6
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
6,
7
]
} |
These mutations occur primarily in the absence of HER2 gene amplification such that most HER2-mutant tumors are classified as "negative" by FISH or immunohistochemistry assays. | genomic_alterations | {
"id": 2064,
"name": "ERBB2",
"pos": [
89,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
101,
6
]
} |
Three exemplary clinical cases of infants with cholestasis are presented and discussed in the context of their genetic and histopathological findings (autosomal recessive polycystic kidney disease, atypical PFIC and Niemann-Pick syndrome type C1). | NA | {
"id": 5205,
"name": "ATP8B1",
"pos": [
207,
4
]
} | {
"id": "C0085548",
"name": "Autosomal Recessive Polycystic Kidney Disease",
"pos": [
151,
45
]
} |
The aim of this study was to investigate the exon 2 polymorphisms of CD1a and CD1d in several high incident cancers in Iran. | genomic_alterations | {
"id": 912,
"name": "CD1D",
"pos": [
78,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
108,
7
]
} |
In many of these models somatostatin appears to antagonise the effects of another neuropeptide, substance P. A somatostatin-substance P immunoregulatory circuit has been proposed to operate within murine Schistosoma mansoni-induced granulomas. | NA | {
"id": 6863,
"name": "TAC1",
"pos": [
124,
11
]
} | {
"id": "C0018188",
"name": "Granuloma",
"pos": [
232,
10
]
} |
Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen. | NA | {
"id": 7450,
"name": "VWF",
"pos": [
108,
21
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
96,
8
]
} |
This is the first demonstration that the expression level of NHE1 is correlated with tumor progression and prognosis in HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
120,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
85,
17
]
} |
The RER+ phenotype was homogeneously present in the primary tumors and their metastases and was absent from adjacent normal and hyperplastic endometrium. | NA | {
"id": 3550,
"name": "IK",
"pos": [
4,
3
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
77,
10
]
} |
beta-Catenin is a multifunctional molecule with important roles in intercellular adhesion and signal transduction. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
0,
12
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
81,
8
]
} |
It suggested that the IL1RN*2 allele might be a genetic marker shared by HSPN and a special group of IgAN patients with recurrent gross hematuria. | NA | {
"id": 3557,
"name": "IL1RN",
"pos": [
22,
5
]
} | {
"id": "C0473237",
"name": "Frank hematuria",
"pos": [
130,
15
]
} |
The data demonstrate that the ECS is activated in obese visceral adipose tissue as shown by decreased FAAH, Cb1, and adiponectin expression. | NA | {
"id": 79152,
"name": "FA2H",
"pos": [
102,
4
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
50,
5
]
} |
We explored the association between apoB/apoAI ratio and PBI lesions according to atherosclerosis type (ICAS, ECAS, and NCAS), PBI location (deep subcortical [ds-PBI] versus hemispheric [h-PBI]), and symptomatic PBI (s-PBI) which was relevant to a prior clinical stroke event. | NA | {
"id": 27350,
"name": "APOBEC3C",
"pos": [
219,
3
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
82,
15
]
} |
In summary, our findings confirm that MSLN should be considered a key molecular target for novel gene-based targeted therapies of cancer. | biomarker | {
"id": 10232,
"name": "MSLN",
"pos": [
38,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
130,
6
]
} |
Overall, on the basis of the results of our study, we proposed that miR-1271 could regulate cisplatin resistance in human gastric cancer cells, at least partially, via targeting the IGF1R/IRS1 pathway. | NA | {
"id": 3667,
"name": "IRS1",
"pos": [
188,
4
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
122,
14
]
} |
Moyamoya disease (MMD) is a cerebrovascular occlusive disease characterized by progressive stenosis or occlusion at the distal ends of bilateral internal arteries. | NA | {
"id": 23531,
"name": "MMD",
"pos": [
18,
3
]
} | {
"id": "C1261287",
"name": "Stenosis",
"pos": [
91,
8
]
} |
The association between the PCK1 polymorphisms and BMI, waist circumference (WC), sum of four skinfolds, PA, and fitness was tested using an additive model adjusted for age, age-group, gender, maturity, and country. | NA | {
"id": 5105,
"name": "PCK1",
"pos": [
28,
4
]
} | {
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
56,
19
]
} |
Association of miR-34a, miR-130a, miR-150 and miR-155 polymorphisms with the risk of ischemic stroke. | genomic_alterations | {
"id": 406942,
"name": "MIR150",
"pos": [
34,
7
]
} | {
"id": "C0948008",
"name": "Ischemic stroke",
"pos": [
85,
15
]
} |
Features of Notch1 activation as measured by intracellular Notch1, high levels of Jagged1, Hes1 and Cdk9 were paralleled by nuclear translocation of both NF-kappaB p50 and p65 with target gene expression (IkappaB-alpha, Bcl-2, and CyclinD1) in human cervical cancer sections. | NA | {
"id": 8209,
"name": "GATD3A",
"pos": [
91,
4
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
250,
15
]
} |
Notably, we reported that the consequence of DNR treatment induced the over expression of the components of mammalian target of rapamycin signalling pathway, whereas RAPA effectively eliminated this deleterious side effect of DNR, which might enhance DNR's ability to kill drug-resistant cancer. | NA | {
"id": 55809,
"name": "TRERF1",
"pos": [
166,
4
]
} | {
"id": "C0677936",
"name": "Refractory cancer",
"pos": [
278,
16
]
} |
Immunohistochemical analysis of GITR expression was analyzed in esophageal cancer (n=70: 41 EAC with BE, 19 EAC without BE, and n=10 esophageal squamous-cell carcinomas, ESCC), the adenocarcinoma cell line OE-33, and peripheral blood leucocytes (PBLs) of EAC patients, furthermore in biopsies of BE without intraepithelial neoplasia (IN) (n=18). | NA | {
"id": 8784,
"name": "TNFRSF18",
"pos": [
32,
4
]
} | {
"id": "C0878500",
"name": "Intraepithelial Neoplasia",
"pos": [
307,
25
]
} |
SIRT5-mediated SDHA desuccinylation promotes clear cell renal cell carcinoma tumorigenesis. | biomarker | {
"id": 23408,
"name": "SIRT5",
"pos": [
0,
5
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
77,
13
]
} |
TNF-alpha-mediated diabetes development was not dependent on CD154-CD40 signals or activated CD4(+) T cells. | NA | {
"id": 920,
"name": "CD4",
"pos": [
93,
3
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
19,
8
]
} |
In the present study, we demonstrate that while inhibition of prostaglandin synthesis and antagonism of beta2-adrenergic receptors markedly attenuated the hyperalgesia induced by carrageenan, these interventions did not affect hyperalgesic priming. | NA | {
"id": 4760,
"name": "NEUROD1",
"pos": [
104,
5
]
} | {
"id": "C0020429",
"name": "Hyperalgesia",
"pos": [
155,
12
]
} |
In order to directly test this hypothesis, we recently created mice with isolated BAT deficiency by using a suicide DNA transgenic vector in which regulatory elements of the UCP gene were used to drive brown fat specific expression of diptheria toxin A-chain (DTA). | NA | {
"id": 570,
"name": "BAAT",
"pos": [
82,
3
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
108,
7
]
} |
In freshly cultured lymphocytes, NAC given in doses ranging from 0.1 to 10 mmol/L decreased the number of mutagen-induced breaks per cell in a range from 23% to 73%, and ascorbic acid decreased chromosomal breakage by 21% to 58% in a dose range from 0.01 to 1 mmol/L. | NA | {
"id": 22861,
"name": "NLRP1",
"pos": [
33,
3
]
} | {
"id": "C0376628",
"name": "Chromosome Breakage",
"pos": [
194,
20
]
} |
Here we show that: (1) hypoxia is an important factor in regulating CXCR4 mediated metastasis and the cells exhibited reducing invasion, adhesion and migration in response to CXCL12 after knocking down HIF. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
68,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
137,
8
]
} |
Based on the concomitant presence of autoimmune manifestations (including vitiligo and hypophysitis), we postulated that there was a synergistic effect between the prior immune therapy and the BRAF targeting agents. | biomarker | {
"id": 673,
"name": "BRAF",
"pos": [
193,
4
]
} | {
"id": "C0342409",
"name": "Hypophysitis",
"pos": [
87,
12
]
} |
To explore the potential role of natural-resistance-associated macrophage protein 1 (NRAMP1) gene, vitamin D receptor (VDR) gene, (human leukocyte antigen, (HLA-DRB1) HLA)-DRB1 gene, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis (TB) in the Chinese Kazakh population. | NA | {
"id": 3123,
"name": "HLA-DRB1",
"pos": [
157,
8
]
} | {
"id": "C0429908",
"name": "Susceptibility to tuberculosis",
"pos": [
218,
30
]
} |
The volumetric atrophy rates in the presymptomatic CHMP2B mutation carriers were statistically significant, though of a lower magnitude than those previously reported in patients of other types of frontotemporal dementia. | NA | {
"id": 25978,
"name": "CHMP2B",
"pos": [
51,
6
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
15,
7
]
} |
Role of Foxp3 and regulatory CD4+CD25+ T-lymphocytes in bronchial asthma. | NA | {
"id": 920,
"name": "CD4",
"pos": [
29,
3
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
56,
16
]
} |
Our current understanding of breast cancer susceptibility involves mutations in the 2 major genes BRCA1 and BRCA2, found in about 25% of high-risk families, as well as few other low penetrance genes such as ATM and CHEK2. | genomic_alterations | {
"id": 472,
"name": "ATM",
"pos": [
207,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
29,
13
]
} |
Moreover, MCL-1 is a key molecule governing the emergence of early <i>EGFR</i>-mutant DTCs to EGFRi, and we demonstrate it can be effectively cotargeted with clinically emerging MCL-1 inhibitors both <i>in vitro</i> and <i>in vivo</i><b>Conclusions:</b> Altogether, these data reveal that this novel therapeutic combination may delay the acquisition of secondary mutations, therefore prolonging therapy efficacy.<i>Clin Cancer Res; 24(22); 5658-72.©2018 AACR</i>. | genomic_alterations | {
"id": 4170,
"name": "MCL1",
"pos": [
10,
5
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
474,
6
]
} |
Here, we examined an index family with 2 patients with C3G-DDD and identified a chromosomal deletion in the complement factor H-related (CFHR) gene cluster. | NA | {
"id": 2889,
"name": "RAPGEF1",
"pos": [
55,
3
]
} | {
"id": "C0008628",
"name": "Chromosome Deletion",
"pos": [
80,
20
]
} |
Vasoreactivity to leptin was evaluated on pulmonary artery and thoracic aorta rings from 18 weeks old male SHR with or without calcium free medium, caffeine + thapsigargin + carbonyl cyanide-4-trifluoromethoxyphenylhydrazone emptying intracellular calcium stores, nifedipine a voltage-gated calcium channel inhibitor, SKF-96365 a transient receptor potential cation channels (TRPC) inhibitor, wortmaninn, a phosphatidylinositide 3-kinases (PI3K) inhibitor, or PD98059 a mitogen-activated protein kinase kinase (MAPKK) inhibitor. | biomarker | {
"id": 5290,
"name": "PIK3CA",
"pos": [
440,
4
]
} | {
"id": "C0236734",
"name": "Caffeine related disorders",
"pos": [
148,
8
]
} |
This study aims to provide a comprehensive view of the role and regulation of cell-cell adhesion in prostate cancer aggressiveness by examining the functional implications of both E-cadherin and Desmoglein 2 (DSG2). | NA | {
"id": 999,
"name": "CDH1",
"pos": [
180,
10
]
} | {
"id": "C1853195",
"name": "Prostate Cancer, Hereditary, 7",
"pos": [
100,
30
]
} |
Furthermore, Msx2 was associated with bone resorption markers receptor activator of nuclear factor-kappa B ligand and tartrate-resistant acid phosphatase, suggesting a role in osteolysis. | NA | {
"id": 4488,
"name": "MSX2",
"pos": [
13,
4
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
38,
15
]
} |
Stimulation of bone formation and prevention of bone loss by prostaglandin E EP4 receptor activation. | therapeutic | {
"id": 5734,
"name": "PTGER4",
"pos": [
77,
4
]
} | {
"id": "C0029458",
"name": "Osteoporosis, Postmenopausal",
"pos": [
48,
9
]
} |
Concomitantly, ORM relieved hyperglycemia-induced insulin resistance as well as tumor necrosis factor-alpha-mediated lipolysis in adipocytes. | NA | {
"id": 498,
"name": "ATP5F1A",
"pos": [
15,
3
]
} | {
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
28,
13
]
} |
Pro-inflammatory mediators including tumor necrosis factor (TNF)-α, TNF-β, interleukin (IL)-8, ICAM-1, Tie2, CRP, and SAA were elevated in patients with chronic residual limb pain. | biomarker | {
"id": 6288,
"name": "SAA1",
"pos": [
118,
3
]
} | {
"id": "C0030196",
"name": "Pain in limb",
"pos": [
170,
9
]
} |
We here report that mice lacking a functional Npr1 gene coding for NPRA have elevated blood pressures and hearts exhibiting marked hypertrophy with interstitial fibrosis resembling that seen in human hypertensive heart disease. | NA | {
"id": 4881,
"name": "NPR1",
"pos": [
67,
4
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
131,
11
]
} |
We analyzed the frequency of EGFR(CA)n mutations in vivo in 55 colorectal and 14 gastric microsatellite instability-positive cancers, and in vitro in single-cell clone cultures of microsatellite instability-positive colon tumor cell line LS174. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
29,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
180,
26
]
} |
Since MH and CCD genes have been linked to the skeletal muscle ryanodine receptor (RYR1) gene, cDNA sequence analysis was used to search for a causal RYR1 mutation in a CCD individual. | genomic_alterations | {
"id": 860,
"name": "RUNX2",
"pos": [
13,
3
]
} | {
"id": "C0751951",
"name": "Central Core Myopathy (disorder)",
"pos": [
169,
3
]
} |
Due to the presence of neuromotor delays and MRI abnormalities, a genetic evaluation was conducted and an array-CGH of the patient's DNA discovered an Xq26.3-27.3 duplication comprising the SOX3 gene. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
45,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
49,
13
]
} |
However, our results show that neuropsin knockout mice are protected against the development of depressive-like behaviours and memory impairment following chronic stress. | biomarker | {
"id": 221391,
"name": "OPN5",
"pos": [
31,
9
]
} | {
"id": "C0233794",
"name": "Memory impairment",
"pos": [
127,
17
]
} |
Autosomal recessive Alport syndrome is a progressive hematuric glomerulonephritis characterized by glomerular basement membrane abnormalities and associated with mutations in either the COL4A3 or the COL4A4 gene, which encode the alpha3 and alpha4 type IV collagen chains, respectively. | genomic_alterations | {
"id": 1285,
"name": "COL4A3",
"pos": [
186,
6
]
} | {
"id": "C1567744",
"name": "Alport Syndrome, Autosomal Recessive",
"pos": [
0,
35
]
} |
The neurofibromatosis 2 gene (NF2) mapped to chromosome 22q is a recently isolated tumor suppressor gene that participates in the tumorigenesis of cells of embryonic neural crest origin. | NA | {
"id": 4771,
"name": "NF2",
"pos": [
4,
24
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
130,
13
]
} |
TLR3/4 signaling is mediated via the NFκB-CXCR4/7 pathway in human alcoholic hepatitis and non-alcoholic steatohepatitis which formed Mallory-Denk bodies. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
37,
4
]
} | {
"id": "C0019187",
"name": "Hepatitis, Alcoholic",
"pos": [
67,
19
]
} |
Moreover, apoptotic cell death initiated by myocardial ischemia-reperfusion (I/R) was significantly inhibited in vivo by transfecting an ORP150 expression plasmid into whole rat heart using the hemagglutinating virus of Japan (HVJ)-liposome method. | NA | {
"id": 10525,
"name": "HYOU1",
"pos": [
137,
6
]
} | {
"id": "C0151744",
"name": "Myocardial Ischemia",
"pos": [
44,
19
]
} |
Mutations in MLH1, MSH2, MSH6, and PMS2 account for greater than 98% of reported mutations in Lynch syndrome families. | genomic_alterations | {
"id": 5395,
"name": "PMS2",
"pos": [
35,
4
]
} | {
"id": "C4552100",
"name": "Lynch Syndrome",
"pos": [
94,
14
]
} |
The rare recurrent translocation of (8;9)(p22;p24) with PCM1-JAK2 fusion was recently characterized in diverse hematological malignancies. | NA | {
"id": 4152,
"name": "MBD1",
"pos": [
56,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
19,
13
]
} |
FISH analysis may be useful to better evaluate HER-2 status in breast cancer in uncertain cases, where the immunohistochemistry score is 2+. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
0,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
63,
13
]
} |
To assess the frequencies of three polymorphisms at amino acid positions 16, 27, and 164 of the beta(2)-adrenoceptor (beta(2)-AR) gene and their effects on COPD patients. | genomic_alterations | {
"id": 154,
"name": "ADRB2",
"pos": [
118,
10
]
} | {
"id": "C0024117",
"name": "Chronic Obstructive Airway Disease",
"pos": [
156,
4
]
} |
Alterations in the GnRH receptor determine hypogonadotropic hypogonadism. | genomic_alterations | {
"id": 2798,
"name": "GNRHR",
"pos": [
19,
13
]
} | {
"id": "C0022735",
"name": "Klinefelter Syndrome",
"pos": [
43,
29
]
} |
We also found asymptomatic Parkin and PINK1 heterozygotes showed a mild but significant decrement in [(11)C]-CFT uptake, but this phenomenon was not found in the DJ-1-heterozygotes. | NA | {
"id": 65018,
"name": "PINK1",
"pos": [
38,
5
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
14,
12
]
} |
We observed no association between the variant genotype in XRCC1 Arg194Trp (codon 194 arganine to tryptophan substitution) and esophageal or gastric cardia cancer. | NA | {
"id": 7515,
"name": "XRCC1",
"pos": [
59,
5
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
127,
10
]
} |
Three- dimensional dynamic migration imaging system and real time RT-PCR were used to quantitatively investigate the effect of macrophages on the cancer cell mobility and gene expression related to cancer invasion and metastasis, including ADAM8, ADAM9, MMP9, TIMP3, VEGF-A and IL8 genes, in AGS, HGC-27, Hs-746T and NCI-N87 gastric cancer cell lines under normal or hypoxic conditions. | NA | {
"id": 4318,
"name": "MMP9",
"pos": [
254,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
367,
7
]
} |
Monitoring the patients longitudinally for SAA level both by protein chip and immunoassay showed a dramatic SAA increase, which correlated with relapse and a drastic fall correlated with response to salvage chemotherapy. | NA | {
"id": 6288,
"name": "SAA1",
"pos": [
108,
3
]
} | {
"id": "C0085639",
"name": "Falls",
"pos": [
166,
4
]
} |
To examine whether genetic variability at the GCKR gene locus was associated with the degree of insulin resistance, plasma concentrations of C-reactive protein (CRP) and n-3 PUFA in MetS subjects. | NA | {
"id": 2646,
"name": "GCKR",
"pos": [
46,
9
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
96,
18
]
} |
Interestingly, intermediate C9ORF72 expansion had a risk effect in familial/sporadic FTLD. | NA | {
"id": 203228,
"name": "C9orf72",
"pos": [
28,
7
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
76,
8
]
} |
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": 1797,
"name": "DXO",
"pos": [
14,
4
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
68,
7
]
} |
Analysis of DAZ deletion copies in infertile men revealed 10 gr/gr-DAZ1/DAZ2 deletions, 1 gr/gr-DAZ3/DAZ4 deletion (10/186 vs. 1/186, p = 0.011) and 3 b2/b3-DAZ1/DAZ2 deletions (13/186 vs. 1/186, p = 0.002). | NA | {
"id": 57055,
"name": "DAZ2",
"pos": [
162,
4
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
35,
9
]
} |
Second, using an in vivo subcutaneous LNCaP tumor model in nude mice, we demonstrated that three intratumoral OBP-301 injections (10(7) PFU per tumor x 3 days) were sufficient to eradicate the detectable LNCaP prostate tumor. | genomic_alterations | {
"id": 3835,
"name": "KIF22",
"pos": [
110,
3
]
} | {
"id": "C0033578",
"name": "Prostatic Neoplasms",
"pos": [
210,
14
]
} |
To determine factors that induce CAP37 in AD, HCN-1A primary human neurons were treated with tumor necrosis factor-alpha (TNF-α) or amyloid β1-40 (Aβ) and analyzed by IHC. | NA | {
"id": 378938,
"name": "MALAT1",
"pos": [
46,
3
]
} | {
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
132,
7
]
} |
In this study, we used FOXO1 (FKHR) gene break-apart FISH probe, which can detect both of the translocations involving the FOXO1 gene, and tested 20 cases of rhabdomyosarcoma (RMS) including 6 cases of ARMS, 8 ERMS, 1 pleomorphic type, 5 not otherwise specified (RMS-NOS), and 10 non-RMS sarcomas. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
53,
4
]
} | {
"id": "C1261473",
"name": "Sarcoma",
"pos": [
288,
8
]
} |
Perspectives of Patients with Insulin-Treated Type 1 and Type 2 Diabetes on Hypoglycemia: Results of the HAT Observational Study in Central and Eastern European Countries. | genomic_alterations | {
"id": 9407,
"name": "TMPRSS11D",
"pos": [
105,
3
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
57,
15
]
} |
Moreover, up-regulation of pro-IL-1β, pro-IL-18, and NLRP3 associated with caspase-1 activation was observed in DV-infected GM-Mϕ, whereas blockade of CLEC5A/MDL-1, a C-type lectin critical for dengue hemorrhagic fever and Japanese encephalitis virus infection, inhibits NLRP3 inflammasome activation and pyrotopsis in GM-Mϕ. | NA | {
"id": 834,
"name": "CASP1",
"pos": [
75,
9
]
} | {
"id": "C0019100",
"name": "Severe Dengue",
"pos": [
194,
24
]
} |
Haploinsufficiency of Anx7 tumor suppressor gene and consequent genomic instability promotes tumorigenesis in the Anx7(+/-) mouse. | NA | {
"id": 310,
"name": "ANXA7",
"pos": [
114,
4
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
64,
19
]
} |
Odds ratios (ORs) were calculated in each study to estimate the influence of TOR1A SNPs genotypes on the risk of dystonia. | genomic_alterations | {
"id": 1861,
"name": "TOR1A",
"pos": [
77,
5
]
} | {
"id": "C0013421",
"name": "Dystonia",
"pos": [
113,
8
]
} |
The results suggest that Ro52 is the main antigen of anti-Ro/SS-A antibodies in patients with polymyositis/dermatomyositis and that its coexistence with other defined antibodies suggests the existence of a subgroup of patients with various serologic abnormalities. | NA | {
"id": 6737,
"name": "TRIM21",
"pos": [
25,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
250,
13
]
} |
We tested RNAi of 1673 genes related to nervous system or synaptic functions, and identified 10 genes that, upon knockdown, caused severe growth/motor abnormalities selectively in alpha-synuclein Tg worms. | NA | {
"id": 6622,
"name": "SNCA",
"pos": [
180,
15
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
40,
14
]
} |
Background Mutations in αB-crystallin result in proteotoxic cardiomyopathy with desmin mislocalization to protein aggregates. | genomic_alterations | {
"id": 1674,
"name": "DES",
"pos": [
80,
6
]
} | {
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
60,
14
]
} |
Our results demonstrate that the HP enlarges with enhanced cell turnover and overexpression of p53, p21WAF1/CIP1, and cyclin D1, associated with H pylori-related inflammation, and that p53 but not c-Ki-ras mutations may have an important role in dysplastic change in HPs. | NA | {
"id": 595,
"name": "CCND1",
"pos": [
118,
9
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
162,
12
]
} |
These data provide evidence for a role in WASF3 in the development of metastasis in a spontaneous model of breast cancer. | biomarker | {
"id": 10810,
"name": "WASF3",
"pos": [
42,
5
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
107,
13
]
} |
We demonstrate that Dlg5(-/-) mice develop fully penetrant hydrocephalus and kidney cysts caused by a deficiency in membrane delivery of cadherin-catenin adhesion complexes and loss of cell polarity. | NA | {
"id": 9231,
"name": "DLG5",
"pos": [
20,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
154,
8
]
} |
Sgk1 may play a part in PBN-dependent actions in acute brain ischemia. | biomarker | {
"id": 6446,
"name": "SGK1",
"pos": [
0,
4
]
} | {
"id": "C0007786",
"name": "Brain Ischemia",
"pos": [
55,
14
]
} |
Recently associations of COL9A2 (Trp2 allele) and COL9A3 (Trp3 allele) polymorphisms with lumbar disc disease characterized by sciatica have been reported. | genomic_alterations | {
"id": 1298,
"name": "COL9A2",
"pos": [
25,
6
]
} | {
"id": "C0036396",
"name": "Sciatica",
"pos": [
127,
8
]
} |
Although EFL1 is known to have GTPase activity that is stimulated by SBDS, how they cooperatively trigger dissociation of Tif6 from the ribosome remains to be elucidated. | NA | {
"id": 51119,
"name": "SBDS",
"pos": [
69,
4
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
106,
12
]
} |
ATRX and TERT mutations suggest the importance of telomere maintenance in gliomagenesis. | genomic_alterations | {
"id": 7015,
"name": "TERT",
"pos": [
9,
4
]
} | {
"id": "C1845055",
"name": "ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED",
"pos": [
0,
4
]
} |
Collectively, our findings not only identify oncogenic MAGE-TRIM28 complex-mediated proteasome degradation of FBP1 as a key mechanism underlying downregulation of FBP1 proteins in HCC, but also reveal that MAGE-TRIM28-regulated reprogramming of cancer cell metabolism and HCC tumorigenesis is mediated, at least in part, through FBP1 degradation. | biomarker | {
"id": 10155,
"name": "TRIM28",
"pos": [
211,
6
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
272,
3
]
} |
Germline mutations in tumour suppressor p16 gene have been implicated as disease causing mutations in some of the melanoma families. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
40,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
22,
6
]
} |
A most striking recent discovery is that TDP-43 is identified as a key molecule that is associated with both sporadic and familial forms of ALS. | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
41,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
109,
8
]
} |
Serum Cortistatin Levels in Patients with Ocular Active and Ocular Inactive Behçet Disease. | biomarker | {
"id": 1325,
"name": "CORT",
"pos": [
6,
11
]
} | {
"id": "C0004943",
"name": "Behcet Syndrome",
"pos": [
76,
14
]
} |
PUMA mediates EGFR tyrosine kinase inhibitor-induced apoptosis in head and neck cancer cells. | biomarker | {
"id": 27113,
"name": "BBC3",
"pos": [
0,
4
]
} | {
"id": "C3887461",
"name": "Head and Neck Carcinoma",
"pos": [
66,
20
]
} |
Conversely, the majority of families with male and female breast cancer were due to BRCA2 (76%). | genomic_alterations | {
"id": 675,
"name": "BRCA2",
"pos": [
84,
5
]
} | {
"id": "C0235653",
"name": "Malignant neoplasm of female breast",
"pos": [
51,
20
]
} |
We describe three novel heterozygous frameshift or nonsense GLI2 mutations, predicting truncated proteins lacking the activator domain, associated with IGHD or combined pituitary hormone deficiency and ectopic posterior pituitary lobe without HPE. | NA | {
"id": 3495,
"name": "IGHD",
"pos": [
152,
4
]
} | {
"id": "C0857439",
"name": "Pituitary hormone deficiency",
"pos": [
169,
28
]
} |
These data suggested that SOCS3 may play a pivotal role in the pathogenesis of MHV-3-induced acute liver failure and HBV-ACLF. | NA | {
"id": 9021,
"name": "SOCS3",
"pos": [
26,
5
]
} | {
"id": "C0162557",
"name": "Liver Failure, Acute",
"pos": [
93,
19
]
} |
Multivariate logistic analysis showed that diabetes was significantly associated with age (odds ratio: 1.26), overweight (1.86), high triglycerides (1.96), family history of hypertension (1.86), heart rate (1.05) and high C-reactive protein (3.59), and IFG significantly associated with age (odds ratio: 1.11), low high-density lipoprotein-cholesterol (1.80), family history of hypertension (1.60), heart rate (1.03) and high C-reactive protein (2.73). | NA | {
"id": 3458,
"name": "IFNG",
"pos": [
253,
3
]
} | {
"id": "C0020557",
"name": "Hypertriglyceridemia",
"pos": [
129,
18
]
} |
Analysis of the association of preeclampsia with polymorphisms of the INS, INSR and IRS1 genes in Mexican women. | NA | {
"id": 3643,
"name": "INSR",
"pos": [
75,
4
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
31,
12
]
} |
We sought to determine the prevalence of hamartomatous polyposis-associated mutations in the susceptibility genes PTEN, BMPR1A, SMAD4, ENG, and STK11 in individuals with ≥5 gastrointestinal polyps, including at least 1 hamartomatous or hyperplastic/serrated polyp. | NA | {
"id": 2022,
"name": "ENG",
"pos": [
135,
3
]
} | {
"id": "C0744333",
"name": "Gastrointestinal polyps",
"pos": [
173,
23
]
} |
Phosphorylated SM22α activated the protein kinase C (PKC)δ-p47phox axis via 2 distinct pathways: (1) disassociation of PKCδ from SM22α, and in turn binding to p47phox, in the early stage of Ang II stimulation; and (2) acceleration of SM22α degradation through ubiquitin-proteasome, enhancing PKCδ membrane translocation via induction of actin cytoskeletal dynamics in later oxidative stress. | NA | {
"id": 653361,
"name": "NCF1",
"pos": [
59,
7
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
306,
13
]
} |
Background Studies suggest that bevacizumab-induced hypertension is prognostic of better outcomes in bevacizumab-treated patients with metastatic colorectal, HER2-negative breast, kidney, and pancreatic cancer. | biomarker | {
"id": 2064,
"name": "ERBB2",
"pos": [
158,
4
]
} | {
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
52,
12
]
} |
According to the PCR and oligonucleotide mutation specific dot blot hybridization, the first lung cancer had a GGT to GTT mutation, while the second lung cancer had a GGT to TGT mutation at codon 12 of the K-ras gene. | genomic_alterations | {
"id": 2678,
"name": "GGT1",
"pos": [
111,
3
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
93,
11
]
} |
GIP responsiveness on insulin sensitivity was analyzed in human adipocyte cell lines in normoxic and hypoxic environments as well as in adipose-derived stem cells obtained from lean and obese patients. | NA | {
"id": 114897,
"name": "C1QTNF1",
"pos": [
0,
3
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
22,
19
]
} |
We sought to determine whether such genetic variability in VEGF contributes to susceptibility of colorectal adenoma (CRA), a presumably precancerous state of colorectal cancer. | NA | {
"id": 51747,
"name": "LUC7L3",
"pos": [
117,
3
]
} | {
"id": "C0032927",
"name": "Precancerous Conditions",
"pos": [
136,
18
]
} |
Further characterization of the IBD1 locus on chromosome 16 led to the discovery of the NOD2/CARD15 gene as the first susceptibility gene in Crohn's disease for 2001. | genomic_alterations | {
"id": 130589,
"name": "GALM",
"pos": [
32,
4
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
141,
15
]
} |
The aim of the study was to investigate the expression of genes coding for vascular endothelial growth factor (VEGF) and placenta growth factor (PlGF) as well as their receptors, fms-like tyrosine kinase receptor 1 (VEGFR-1/Flt-1) and VEGF receptor 2 (VEGFR-2/KDR) in the placentae of patients with pregnancies complicated by preeclampsia (PE) and intrauterine growth restriction (IUGR). | NA | {
"id": 4914,
"name": "NTRK1",
"pos": [
188,
24
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
326,
12
]
} |
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