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|---|---|---|---|
Extended HLA haplotypes frequencies were estimated from the HLA, C2, Bf and C4 phenotypes of 74 patients with non-insulin-dependent diabetes (NIDD), 92 with juvenile rheumatoid arthritis (JRA), 44 with Berger's disease (BD), 83 with insulin-dependent diabetes (IDD), and 140 healthy controls.
|
NA
|
{
"id": 254887,
"name": "ZDHHC23",
"pos": [
142,
4
]
}
|
{
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
110,
30
]
}
|
Among lymphoid malignancies, we found an association between VpreB3 expression and B-cell tumors with c-MYC abnormalities.
|
NA
|
{
"id": 29802,
"name": "VPREB3",
"pos": [
61,
6
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
15,
12
]
}
|
Although 17beta-estradiol (E2) administration following trauma-hemorrhage (T-H) improves cardiac function in male rodents, it is not known whether the salutary effects of E2 are mediated via estrogen receptor (ER)-alpha or ER-beta, and whether cardiac heat shock proteins (Hsp) are affected by E2 administration.
|
NA
|
{
"id": 2099,
"name": "ESR1",
"pos": [
191,
17
]
}
|
{
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
63,
10
]
}
|
In summary, obese insulin-resistant rodents have abnormalities in the LKB1-AMPK-PGC-1 pathway in muscle, and these abnormalities can be restored by training.
|
NA
|
{
"id": 5225,
"name": "PGC",
"pos": [
80,
3
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
115,
13
]
}
|
LRRK2 G2019S carriers (n = 97) and non-carriers (n = 391) were similar in age and age at onset of PD.
|
genomic_alterations
|
{
"id": 120892,
"name": "LRRK2",
"pos": [
0,
5
]
}
|
{
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
98,
2
]
}
|
Here we demonstrate that mice with transgenic expression of a constitutively active EPOR isoform (cEPOR) in pyramidal neurons of cortex and hippocampus exhibit enhancement of spatial learning, cognitive flexibility, social memory, and attentional capacities, accompanied by increased impulsivity.
|
NA
|
{
"id": 2057,
"name": "EPOR",
"pos": [
84,
4
]
}
|
{
"id": "C0021125",
"name": "Impulsive Behavior",
"pos": [
284,
11
]
}
|
Paraffin sections from radical prostatectomy cancer specimens and from tissue microarray sections of prostate cancer, obtained from the Prostate Cancer Tissue Registry (NIH), were assayed for BP1 immunoreactivity.
|
NA
|
{
"id": 1748,
"name": "DLX4",
"pos": [
192,
3
]
}
|
{
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
101,
15
]
}
|
CD244 co-operates with c-Kit to activate SHP-2 signaling to dephosphorylate p27 and maintain its stability to promote leukemia development.
|
biomarker
|
{
"id": 10671,
"name": "DCTN6",
"pos": [
76,
3
]
}
|
{
"id": "C1332977",
"name": "Childhood Leukemia",
"pos": [
118,
8
]
}
|
HMAECs were treated with high or normal glucose and TLR-2, TLR-4, MyD88, IRF3, TRIF, nuclear NF-κB p65, IL-8, IL-1β, TNF-α, MCP-1, ICAM-1, sVCAM-1, monocyte adhesion to HMAECs, heparan sulfate and hyaluronic acid were measured.
|
NA
|
{
"id": 3661,
"name": "IRF3",
"pos": [
73,
4
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
157,
8
]
}
|
Our results suggest that a higher frequency of p53 genetic mutations and increased AgNOR values exist in SCC compared with BCC and SCP.
|
genomic_alterations
|
{
"id": 7157,
"name": "TP53",
"pos": [
47,
3
]
}
|
{
"id": "C4721806",
"name": "Carcinoma, Basal Cell",
"pos": [
123,
3
]
}
|
Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas.
|
genomic_alterations
|
{
"id": 8085,
"name": "KMT2D",
"pos": [
32,
5
]
}
|
{
"id": "C0334596",
"name": "Medulloepithelioma",
"pos": [
66,
19
]
}
|
These results indicate that the expression of HDAC1 is regulated by hypoxia and the effect of TSA is closely related to the expression of P21 under hypoxia condition.
|
NA
|
{
"id": 1026,
"name": "CDKN1A",
"pos": [
138,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
148,
7
]
}
|
We studied the human tumor antigen MUC1 which is abnormally expressed in colon cancers and also in inflammatory bowel disease (IBD) that gives rise to colitis-associated colon cancer (CACC).
|
NA
|
{
"id": 1179,
"name": "CLCA1",
"pos": [
184,
4
]
}
|
{
"id": "C0021390",
"name": "Inflammatory Bowel Diseases",
"pos": [
99,
26
]
}
|
Plasmablastic lymphoma with MYC translocation: evidence for a common pathway in the generation of plasmablastic features.
|
genomic_alterations
|
{
"id": 4609,
"name": "MYC",
"pos": [
28,
3
]
}
|
{
"id": "C3472614",
"name": "Plasmablastic lymphoma",
"pos": [
0,
22
]
}
|
These findings indicate that gadd45A may contribute to lupus-like autoimmunity by promoting DNA demethylation in SLE CD4+ T cells.
|
NA
|
{
"id": 1647,
"name": "GADD45A",
"pos": [
29,
7
]
}
|
{
"id": "C0024131",
"name": "Lupus Vulgaris",
"pos": [
55,
5
]
}
|
Here we identified p114-RhoGEF and Lfc (also called GEF-H1) as the Rho-GEFs responsible for Wnt-3a-induced RhoA activation in N1E-115 mouse neuroblastoma cells.
|
biomarker
|
{
"id": 9181,
"name": "ARHGEF2",
"pos": [
52,
6
]
}
|
{
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
140,
13
]
}
|
To accomplish this, Bcl-w was overexpressed in adherent types of gastric adenocarcinoma cell lines, and this was found to result in an increase in their migratory and invasive potentials.
|
NA
|
{
"id": 599,
"name": "BCL2L2",
"pos": [
20,
5
]
}
|
{
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
65,
22
]
}
|
Physiological functions of PTTG are revealed by PTTG-null mice who exhibit a variety of cell growth abnormalities including diabetes mellitus secondary to defective beta-cell proliferation.
|
NA
|
{
"id": 9232,
"name": "PTTG1",
"pos": [
48,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
100,
13
]
}
|
The effects of thyrotropin-releasing hormone (TRH) and its analog, N-[[(3R,6R)-6-methyl-5-oxo-thiomorpholinyl] carbonyl]-L-histidyl-L- prolinamide tetrahydrate (NS-3, CG3703) on disturbance of memory of a passive avoidance response (PAR) and an escape response in rats were investigated.
|
NA
|
{
"id": 7200,
"name": "TRH",
"pos": [
46,
3
]
}
|
{
"id": "C0233794",
"name": "Memory impairment",
"pos": [
178,
21
]
}
|
Solitary precursor lesions of the uterine cervix (CIN 2/3, n = 17), lesions associated with a micro-invasive carcinoma (CIN 3&mCA, n = 13), and advanced invasive carcinomas (invCA, n = 7) were analysed by fluorescence in situ hybridization (FISH) to determine the physical status of the virus and TERC gene copy number.
|
NA
|
{
"id": 9644,
"name": "SH3PXD2A",
"pos": [
241,
4
]
}
|
{
"id": "C1334274",
"name": "Invasive Carcinoma",
"pos": [
100,
18
]
}
|
We conclude that: (1) B19 infection may be underdiagnosed as the causative agent responsible for acute hepatitis and associated AA if no organ-specific diagnostic tests are applied; (2) B19 deoxyribonucleic acid (DNA) can persist in the liver; (3) during the acute phase of hepatitis, extramedullary hematopoiesis may be involved in the susceptibility for hepatic B19 infection.
|
NA
|
{
"id": 59271,
"name": "EVA1C",
"pos": [
364,
3
]
}
|
{
"id": "C2613439",
"name": "Extramedullary Hematopoiesis (disorder)",
"pos": [
285,
28
]
}
|
KRAS and EGFR mutation status were assessed by polymerase chain reaction (PCR) amplification and direct sequencing on both primary tumors and metastases.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
9,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
131,
6
]
}
|
Here we report that mice lacking one of the key enzymes involved in the elimination of physiological ROS, glutathione peroxidase 1 (Gpx1), were protected from high-fat-diet-induced insulin resistance.
|
NA
|
{
"id": 2876,
"name": "GPX1",
"pos": [
132,
4
]
}
|
{
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
181,
18
]
}
|
Molecular studies identified the disruption of the disrupted-in-schizophrenia 1 (DISC1) gene by chromosome translocation at chromosome 1q42.
|
NA
|
{
"id": 27185,
"name": "DISC1",
"pos": [
81,
5
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
96,
24
]
}
|
We planned to evaluate the possible association of SMUG1 variants and their possible interaction with high sensitivity CRP levels in AMD.
|
genomic_alterations
|
{
"id": 23583,
"name": "SMUG1",
"pos": [
51,
5
]
}
|
{
"id": "C0242383",
"name": "Age related macular degeneration",
"pos": [
133,
3
]
}
|
From these data we conclude that frequent measuring of blood pressure by ABPM is crucial to find an association of the ACE D allele with various aspects of blood pressure.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
119,
3
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
156,
14
]
}
|
The study was aimed at investigating the level of serum TNF-alpha levels in adults and analyzing its relationship with different levels of alcohol consumption, as well as the potential interaction between alcohol consumption and common TNF-alpha gene polymorphisms in relation to TNF-alpha levels and liver disease.
|
NA
|
{
"id": 378938,
"name": "MALAT1",
"pos": [
240,
10
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
205,
19
]
}
|
The morphologic spectrum of non-Hodgkin's lymphomas with BCL1/cyclin D1 gene rearrangements.
|
genomic_alterations
|
{
"id": 595,
"name": "CCND1",
"pos": [
57,
4
]
}
|
{
"id": "C0019829",
"name": "Hodgkin Disease",
"pos": [
32,
19
]
}
|
The findings provide additional support for a common effect of genes coding for cell adhesion molecules (e.g., CDH13, ASTN2) and regulators of synaptic plasticity (e.g., CTNNA2, KALRN) despite the complex multifactorial etiologies of adult ADHD and addiction vulnerability.
|
NA
|
{
"id": 23245,
"name": "ASTN2",
"pos": [
118,
5
]
}
|
{
"id": "C0085281",
"name": "Addictive Behavior",
"pos": [
249,
9
]
}
|
Collectively, our results unveil a pivotal role for TRIM37 in genotoxic stress and shed light on mechanisms of inducible chemotherapy resistance in cancer.<b>Significance:</b> In response to genotoxic stress, TRIM37 activates NF-κB signaling via monoubiquitination of NEMO, which subsequently promotes cisplatin chemoresistance and tumor relapse in cancer.<i></i>.
|
biomarker
|
{
"id": 8517,
"name": "IKBKG",
"pos": [
280,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
344,
5
]
}
|
The progesterone receptor gene, which is mapped to chromosome 11 at band q21-23, was not amplified in these esophageal carcinomas.
|
NA
|
{
"id": 5241,
"name": "PGR",
"pos": [
4,
26
]
}
|
{
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
108,
10
]
}
|
When we used the median expression levels of the NER proteins in the controls as cutoff values, we found that a significantly increased risk of SCCHN was associated with low expression of XPA [odds ratio (OR), 2.99; 95% confidence interval (CI), 1.22-7.47], XPC (OR, 2.46; 95% CI, 1.04-5.87), XPD (OR, 3.02; 95% CI, 1.18-7.76), and XPF (OR, 5.29; 95% CI, 2.01-13.9), but not ERCC1 and XPG, after adjustment for age, sex, ethnicity, smoking, alcohol use, and sample storage time.
|
NA
|
{
"id": 2073,
"name": "ERCC5",
"pos": [
385,
3
]
}
|
{
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
441,
11
]
}
|
Hp genotypes correlated with HO1 expression in the plaque (r = 0.47, P = 0.027).
|
NA
|
{
"id": 3162,
"name": "HMOX1",
"pos": [
29,
3
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
51,
6
]
}
|
There is increasing cumulative evidence that activated mononuclear phagocytes (macrophages/microglia) releasing inflammatory mediators in the CNS are a better correlate of HIV-associated dementia (HAD) than the actual viral load in the brain.
|
NA
|
{
"id": 3033,
"name": "HADH",
"pos": [
197,
3
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
218,
10
]
}
|
The orphan tyrosine kinase receptor, ROR2, mediates Wnt5A signaling in metastatic melanoma.
|
NA
|
{
"id": 4914,
"name": "NTRK1",
"pos": [
11,
24
]
}
|
{
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
71,
19
]
}
|
In addition, MIF enhances tumor cells metastases by modulating the immune responses and by promoting the angiogenesis related to VEGF.
|
NA
|
{
"id": 268,
"name": "AMH",
"pos": [
13,
3
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
38,
10
]
}
|
Gene expression profiles were studied in 13 cases of salivary gland carcinoma including mucoepidermoid carcinoma (MEC), acinic cell carcinoma (ACC), and salivary duct carcinoma (SDC) using a cDNA array.
|
NA
|
{
"id": 6382,
"name": "SDC1",
"pos": [
178,
3
]
}
|
{
"id": "C1301194",
"name": "Salivary duct carcinoma",
"pos": [
153,
23
]
}
|
DNA methyltransferase 3B (DNMT3B) is critical in de novo DNA methylation during development and tumorigenesis.
|
NA
|
{
"id": 1789,
"name": "DNMT3B",
"pos": [
26,
6
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
96,
13
]
}
|
Therefore, we screened differentially expressed genes of bone marrow CD4(+) T cells of aplastic anaemia patients and normal donors by suppressive subtractive hybridization to investigate the pathogenesis of aplastic anaemia.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
69,
3
]
}
|
{
"id": "C0002874",
"name": "Aplastic Anemia",
"pos": [
207,
16
]
}
|
These data demonstrated that ARF modulates the SLUG/E-cadherin signaling axis for augmenting prostate tumorigenesis in vivo, revealing a novel paradigm where the oncogenic functions of SLUG require ARF to target E-cadherin in prostate cancer.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
198,
3
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
102,
13
]
}
|
The aim of this study was to investigate whether UGT1A1*6/*28 or ABCB1-3435C>T polymorphisms affect irinotecan-induced severe diarrhea and neutropenia in Chinese cancer patients.
|
NA
|
{
"id": 5243,
"name": "ABCB1",
"pos": [
65,
5
]
}
|
{
"id": "C1443924",
"name": "Severe diarrhea",
"pos": [
119,
15
]
}
|
Several of the genes are implicated in cell adhesion and motility, including L-selectin, intercellular adhesion molecule-1 (ICAM-1), and the chemokine receptor, CCR7, consistent with the known defect in adhesion and migration of CML cells.
|
NA
|
{
"id": 6402,
"name": "SELL",
"pos": [
77,
10
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
203,
8
]
}
|
TAZ inhibition promotes IL-2-induced apoptosis of hepatocellular carcinoma cells by activating the JNK/F-actin/mitochondrial fission pathway.
|
biomarker
|
{
"id": 6901,
"name": "TAZ",
"pos": [
0,
3
]
}
|
{
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
50,
24
]
}
|
Then, we assessed the impact of various natural (lactation, annual reproductive cycle, bFGF) and pathological (autoimmune orchitis, diabetes/obesity) conditions associated with altered anterior pituitary hormone secretion on Cx46 and Cx50.
|
biomarker
|
{
"id": 2700,
"name": "GJA3",
"pos": [
225,
4
]
}
|
{
"id": "C0011847",
"name": "Diabetes",
"pos": [
132,
8
]
}
|
One example of this is provided by Chuvash polycythemia, a form of erythrocytosis due to a mutation in the von Hippel Lindau tumor suppressor protein (VHL), a component of an E3 ubiquitin ligase complex that targets hydroxylated HIF for degradation.
|
genomic_alterations
|
{
"id": 5071,
"name": "PRKN",
"pos": [
175,
19
]
}
|
{
"id": "C4749274",
"name": "Chuvash erythrocytosis",
"pos": [
35,
20
]
}
|
Chromosome 17 abnormalities in squamous cell carcinoma of the oral cavity, and its relationship with p53 and Bcl-2 expression.
|
NA
|
{
"id": 596,
"name": "BCL2",
"pos": [
109,
5
]
}
|
{
"id": "C0585362",
"name": "Squamous cell carcinoma of mouth",
"pos": [
31,
42
]
}
|
The microbial mucosal modulation of arthritis was dependent on regulation by CD103+ dendritic cells and myeloid suppressors (CD11b+Gr-1+ cells) and by generation of Treg cells (CD4+CD25+FoxP3+) in the gut, resulting in suppression of antigen-specific Th17 responses and increased transcription of interleukin-10.
|
biomarker
|
{
"id": 50943,
"name": "FOXP3",
"pos": [
186,
5
]
}
|
{
"id": "C0003864",
"name": "Arthritis",
"pos": [
36,
9
]
}
|
The estimated resistin haplotype (GGT) was associated with sol-TNFR2 (P = 0.04) and the AGT haplotype was related to CRP (P = 0.04) in the fully adjusted models.
|
NA
|
{
"id": 183,
"name": "AGT",
"pos": [
88,
3
]
}
|
{
"id": "C4505222",
"name": "Sleep Onset Latency",
"pos": [
59,
3
]
}
|
However among women with polycystic ovaries, increasing severity of clinical phenotype (based on number of features of: menstrual irregularity, acne, hirsutism, serum testosterone > 3 mmol/l and LH > 10 IU/l) was associated with decreasing insulin sensitivity (P < 0.0001) and related to paternally transmitted insulin gene VNTR class III alleles (P = 0.03).
|
NA
|
{
"id": 3630,
"name": "INS",
"pos": [
311,
12
]
}
|
{
"id": "C0156404",
"name": "Irregular Menstruation",
"pos": [
120,
22
]
}
|
With respect to all biopsy samples analyzed, DNA aneuploidy was found in 32.5% (27/83) of patients, dysplasia in 22.9% (15/83), p53 in 21.7% (18/83) and Ki-ras mutations in 18.1% (15/83) of patients.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
128,
3
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
49,
10
]
}
|
Studies that employ genome-wide linkage scans with hundreds of small nuclear families have identified new susceptibility genes for coronary artery disease and myocardiaI infarction, including ALOX5AP (encoding 5-lipoxygenase-activating protein) associated with myocardial infarction and stroke and PDE4D (encoding phosphodiesterase 4D) for ischemic stroke.
|
NA
|
{
"id": 241,
"name": "ALOX5AP",
"pos": [
210,
33
]
}
|
{
"id": "C0021308",
"name": "Infarction",
"pos": [
170,
10
]
}
|
For KRAS2, there were identified 8 mutations (32%) in the MSI positive specimens compared with 7 (28%) in the MSI negative tumors.
|
genomic_alterations
|
{
"id": 3265,
"name": "HRAS",
"pos": [
4,
5
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
123,
6
]
}
|
We also demonstrated that PAK2 over-activation is likely responsible for the migratory and cell cycle abnormalities observed in Tsc2(-/-) MEFs.
|
NA
|
{
"id": 5062,
"name": "PAK2",
"pos": [
26,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
102,
13
]
}
|
Available data included: HSV-1 and HSV-2 antibodies at study entry; bi-annually ascertained episodes of (self-reported) oral herpes, (self-reported) genital sores and (clinician-observed) genital ulcers; HSV-2 DNA in cervicovaginal lavage (CVL) specimens.
|
NA
|
{
"id": 7430,
"name": "EZR",
"pos": [
240,
3
]
}
|
{
"id": "C0151281",
"name": "Genital ulcers",
"pos": [
188,
14
]
}
|
To study whether primary liver cancer (PLC) could be associated with acute intermittent porphyria (AIP) carriership and whether the activity of erythrocyte porphobilinogen deaminase (PBGD) could be used as a tumour marker for PLC.
|
NA
|
{
"id": 3339,
"name": "HSPG2",
"pos": [
226,
3
]
}
|
{
"id": "C0162565",
"name": "Acute intermittent porphyria",
"pos": [
69,
28
]
}
|
The in vivo effect of recombinant human erythropoietin (rHuEpo) and granulocyte colony-stimulating factor (G-CSF) combined treatment on CD34(+) cells was evaluated by fluorescence in situ hybridization (FISH) in 13 myelodysplastic syndrome (MDS) patients with known cytogenetic abnormalities.
|
NA
|
{
"id": 1440,
"name": "CSF3",
"pos": [
68,
37
]
}
|
{
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
266,
25
]
}
|
Patients with mutations in the pulmonary surfactant protein C (SP-C) gene develop interstitial lung disease and pulmonary exacerbations associated with viral infections including respiratory syncytial virus (RSV).
|
NA
|
{
"id": 6440,
"name": "SFTPC",
"pos": [
63,
4
]
}
|
{
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
152,
16
]
}
|
Molecular study of a t(1;14)(p32;q11) translocation found in an acute T-cell leukemia (Kd cells) with a relatively mature phenotype is reported.
|
NA
|
{
"id": 708,
"name": "C1QBP",
"pos": [
29,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
38,
13
]
}
|
The heterozygous CSRP3 mutation was found in two patients (sample types 2 and 3) aged 50 and 52 years, respectively, both with diffuse left ventricular hypertrophy.
|
NA
|
{
"id": 8048,
"name": "CSRP3",
"pos": [
17,
5
]
}
|
{
"id": "C0340279",
"name": "Ventricular hypertrophy",
"pos": [
140,
23
]
}
|
The patient who can therefore be considered a sporadic case, carries a novel de novo nonsense mutation p.Tyr1009X in the ATP1A2 gene (FHM2), leading to a truncated alpha-2 subunit of the Na+/K+-ATPase pump thus lacking the last 11 amino acids.
|
NA
|
{
"id": 477,
"name": "ATP1A2",
"pos": [
121,
11
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
46,
8
]
}
|
Transferrin receptor 1 is a cellular receptor for New World haemorrhagic fever arenaviruses.
|
therapeutic
|
{
"id": 7037,
"name": "TFRC",
"pos": [
0,
22
]
}
|
{
"id": "C0003756",
"name": "Arenaviridae Infections",
"pos": [
60,
18
]
}
|
The microinjection of 1-10 ng of suc-[Asp5, Me-Phe8]-SP(6-11) (senktide, a selective neurokinin B receptor peptide) into the NTS caused long-lasting hypertension and tachycardia.
|
NA
|
{
"id": 6870,
"name": "TACR3",
"pos": [
85,
21
]
}
|
{
"id": "C0039231",
"name": "Tachycardia",
"pos": [
166,
11
]
}
|
Our findings show that human HOIP is essential for the assembly and function of LUBAC and for various processes governing inflammation and immunity in both hematopoietic and nonhematopoietic cells.
|
NA
|
{
"id": 55072,
"name": "RNF31",
"pos": [
29,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
122,
12
]
}
|
Logic regression identified an interaction involving four SNPs (MBD2-rs4041245, MLH1-rs1799977, MDM2-rs769412, BRCA2-rs1799943) (P(permutation) = 2.4 × 10(-3)).
|
NA
|
{
"id": 4193,
"name": "MDM2",
"pos": [
96,
4
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
6,
10
]
}
|
Pathogenic deletions of 3q26 (SOX2) were identified in four independent patients with syndromic microphthalmia.
|
genomic_alterations
|
{
"id": 6657,
"name": "SOX2",
"pos": [
30,
4
]
}
|
{
"id": "C0026010",
"name": "Microphthalmos",
"pos": [
96,
14
]
}
|
Drusen complement components C3a and C5a promote choroidal neovascularization.
|
NA
|
{
"id": 718,
"name": "C3",
"pos": [
29,
3
]
}
|
{
"id": "C0600518",
"name": "Choroidal Neovascularization",
"pos": [
49,
28
]
}
|
The combination of multiple exostoses (EXT) and enlarged parietal foramina (foramina parietalia permagna, FPP) represent the main features of the proximal 11p deletion syndrome (P11pDS), a contiguous gene syndrome (MIM 601224) caused by an interstitial deletion on the short arm of chromosome 11.
|
NA
|
{
"id": 9788,
"name": "MTSS1",
"pos": [
215,
3
]
}
|
{
"id": "C1832588",
"name": "Chromosome 11p11.2 Deletion Syndrome",
"pos": [
146,
30
]
}
|
Correlating the sets of genes found in the PC3 microarray data with prostate cancer tissues was performed by verifying the genes in a comprehensive gene expression microarray analysis of RNA extracted from laser microdissected normal prostate glands and from carcinoma glands taken from prostate cancer patients.
|
NA
|
{
"id": 7832,
"name": "BTG2",
"pos": [
43,
3
]
}
|
{
"id": "C0007097",
"name": "Carcinoma",
"pos": [
259,
9
]
}
|
The patient was a 7-year-old boy with NS, who was included in the first series reporting the association between Noonan and RAF1, and who later presented with a 2-week history of asymptomatic unilateral tonsillar swelling and ipsilateral cervical lymphadenopathy.
|
NA
|
{
"id": 5894,
"name": "RAF1",
"pos": [
124,
4
]
}
|
{
"id": "C0235592",
"name": "Cervical lymphadenopathy",
"pos": [
238,
24
]
}
|
The authors analyzed whether a polymorphism (g.168_185del) within exon 1 of DJ-1 contributes to the risk of sporadic PD in a Finnish case-control series.
|
NA
|
{
"id": 11315,
"name": "PARK7",
"pos": [
76,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
108,
8
]
}
|
These findings support roles for TWIST both in early glial tumorigenesis and subsequent malignant progression.
|
NA
|
{
"id": 7291,
"name": "TWIST1",
"pos": [
33,
5
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
59,
13
]
}
|
We also studied the effect of NF-kappaB inhibition in human HCC cells exposed to oxidative stress, by infecting HuH7 cells with a recombinant adenovirus carrying mutant IkappaBalpha (mIkappaBalpha).
|
NA
|
{
"id": 4792,
"name": "NFKBIA",
"pos": [
169,
12
]
}
|
{
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
142,
10
]
}
|
Survival of mice (groups of ten) with intracranial U87 xenograft tumors treated with temozolomide and/or G207 was analyzed using Kaplan-Meier analysis.
|
NA
|
{
"id": 677775,
"name": "SCARNA5",
"pos": [
51,
3
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
65,
6
]
}
|
Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression.
|
genomic_alterations
|
{
"id": 7307,
"name": "U2AF1",
"pos": [
25,
5
]
}
|
{
"id": "C3900098",
"name": "Adult Myelodysplastic Syndrome",
"pos": [
57,
24
]
}
|
Impact of ENPP1 K121Q on change of insulin resistance after web-based intervention in Korean men with diabetes and impaired fasting glucose.
|
genomic_alterations
|
{
"id": 5167,
"name": "ENPP1",
"pos": [
10,
5
]
}
|
{
"id": "C0011847",
"name": "Diabetes",
"pos": [
102,
8
]
}
|
RESULTS: p53, MDM2, and p21Waf1 expression were detected in 20%, 60%, and 80% of endometrioma tissue samples, respectively.
|
NA
|
{
"id": 4193,
"name": "MDM2",
"pos": [
14,
4
]
}
|
{
"id": "C0269102",
"name": "Endometrioma",
"pos": [
81,
12
]
}
|
No correlation was found between p53 mutations, the presence of a bcl-1 translocation, and the proliferative activity of neoplastic MCL cells.
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
33,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
72,
13
]
}
|
Tumour-to-tumour metastasis from papillary thyroid carcinoma with BRAF mutation to lung adenocarcinoma with EGFR mutation: the utility of mutation-specific antibodies.
|
genomic_alterations
|
{
"id": 1956,
"name": "EGFR",
"pos": [
108,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
0,
6
]
}
|
The presence of allele C at the SNP8NRG221533 locus was associated with an increased cellular production of NRG1 in HUVECs, and with a significantly reduced risk for cerebral palsy and developmental delay in children born preterm.
|
biomarker
|
{
"id": 3084,
"name": "NRG1",
"pos": [
108,
4
]
}
|
{
"id": "C0557874",
"name": "Global developmental delay",
"pos": [
185,
19
]
}
|
To identify the miRNA signature in PTC with LN metastasis, miRNAs isolated from PTC patients with LN metastasis (n = 3) and without LN (NLN) metastasis (n = 3) were used for microarray analysis.
|
NA
|
{
"id": 57486,
"name": "NLN",
"pos": [
136,
3
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
141,
10
]
}
|
DJ-1 was expressed in human thyroid carcinoma cell lines; small interfering RNA-mediated downregulation of its levels significantly sensitized thyroid carcinoma cells to TRAIL-induced apoptosis, whereas the forced exogenous expression of DJ-1 significantly suppressed cell death induced by TRAIL.
|
NA
|
{
"id": 11315,
"name": "PARK7",
"pos": [
238,
4
]
}
|
{
"id": "C0549473",
"name": "Thyroid carcinoma",
"pos": [
28,
17
]
}
|
CAG repeat lengths on the androgen receptor gene were evaluated for 151 African-American and 168 white veterans with prostate cancer.
|
genomic_alterations
|
{
"id": 367,
"name": "AR",
"pos": [
26,
17
]
}
|
{
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
117,
15
]
}
|
Presence of a p16 hit was significantly correlated with high FIGO stage (p = 0.04), high histologic grade (p = 0.02), estrogen receptor negativity (p = 0.05), pathologic expression of p53 (p = 0.02), pathologic expression of p16 (p = 0.05) and poor survival (p = 0.02).
|
NA
|
{
"id": 7157,
"name": "TP53",
"pos": [
184,
3
]
}
|
{
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
18,
3
]
}
|
NS results in marked up-regulation of hepatic ACAT, which is primarily due to proteinuria and not hypoalbuminemia, since the latter alone, as seen in NAG rats, does not significantly impact ACAT expression.
|
NA
|
{
"id": 4669,
"name": "NAGLU",
"pos": [
150,
3
]
}
|
{
"id": "C0239981",
"name": "Hypoalbuminemia",
"pos": [
98,
15
]
}
|
Patients with ACS presented with enhanced platelet-bound-SDF-1 compared with SAP.
|
biomarker
|
{
"id": 6387,
"name": "CXCL12",
"pos": [
57,
5
]
}
|
{
"id": "C0340288",
"name": "Stable angina",
"pos": [
77,
3
]
}
|
In view of the clinical similarities between polyarticular osteoarthritis (POA) with metacarpophalangeal (MCP) joint involvement and the arthropathy that occurs in hereditary haemochromatosis (HH), it was hypothesized that osteochondral damage in both disorders may be due to localized iron overload.
|
NA
|
{
"id": 822,
"name": "CAPG",
"pos": [
106,
3
]
}
|
{
"id": "C0392514",
"name": "Hereditary hemochromatosis",
"pos": [
164,
27
]
}
|
Amelioration of osteoarthritis by intra-articular hyaluronan synthase 2 gene therapy.
|
NA
|
{
"id": 3037,
"name": "HAS2",
"pos": [
50,
26
]
}
|
{
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
16,
14
]
}
|
Altogether, we show that, under acidic pH(e) conditions, TRAIL induces a necrosis-like cell death pathway that depends both on caspases and RIP kinase activity.
|
NA
|
{
"id": 8743,
"name": "TNFSF10",
"pos": [
57,
5
]
}
|
{
"id": "C0027540",
"name": "Necrosis",
"pos": [
73,
8
]
}
|
BACKGROUND: Increased levels of interleukin-8 (IL-8) and interleukin-6 (IL-6) in acute human brucellosis have been reported.
|
NA
|
{
"id": 3576,
"name": "CXCL8",
"pos": [
47,
4
]
}
|
{
"id": "C0006309",
"name": "Brucellosis",
"pos": [
93,
11
]
}
|
Muscle MRI therefore does not appear to be as useful in the diagnostic work up of LGMD2L as for other neuromuscular diseases, such as Bethlem myopathy or myofibrillar myopathy.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
7,
3
]
}
|
{
"id": "C2678065",
"name": "Myofibrillar Myopathy",
"pos": [
154,
21
]
}
|
Genetic causes were identified from blood in 19 (23.5%) patients with malformations of cortical development; 14 patients had pathogenic or likely pathogenic single-nucleotide variants in seven genes, including DCX (n = 5), DEPDC5 (n = 2), PAFAH1B1 (n = 3), TUBA1A (n = 1), TUBA8 (n = 1), TUBB2B (n = 1), and TUBB3 (n = 1).
|
genomic_alterations
|
{
"id": 7846,
"name": "TUBA1A",
"pos": [
257,
6
]
}
|
{
"id": "C1955869",
"name": "Malformations of Cortical Development",
"pos": [
70,
37
]
}
|
S100P expression is described in many different cancers, and its expression is associated with drug resistance, metastasis, and poor clinical outcome.
|
NA
|
{
"id": 6286,
"name": "S100P",
"pos": [
0,
5
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
48,
7
]
}
|
We studied the mRNA expression of APRIL, BLyS, and the corresponding receptors BCMA, TACI, and BAFF-R in microdissected human biopsies with proliferative lupus nephritis (n=25) and compared it with pretransplant biopsies of living donors (n=9).
|
NA
|
{
"id": 608,
"name": "TNFRSF17",
"pos": [
79,
4
]
}
|
{
"id": "C0024143",
"name": "Lupus Nephritis",
"pos": [
154,
15
]
}
|
We found statistically significant differences (P < 0.01) between the healthy volunteers and patients with severe periodontitis in the following genes; gonadotropin-releasing hormone 1 (GNRH1), phosphatidylinositol 3-kinase regulatory 1 (PIK3R1), dipeptidylpeptidase 4 (DPP4), fibrinogen-like 2 (FGL2), and calcitonin receptor (CALCR).
|
NA
|
{
"id": 1803,
"name": "DPP4",
"pos": [
270,
4
]
}
|
{
"id": "C4025886",
"name": "Severe periodontitis",
"pos": [
107,
20
]
}
|
The ACE I/D polymorphism was not of significant importance in determining the capability of responding to exercise in terms of improvement in insulin sensitivity or maximal aerobic capacity.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
4,
3
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
142,
19
]
}
|
To test the hypothesis that a similar Th1-like pattern of cytokine gene expression occurs in vivo in pulmonary tuberculosis we used in situ hybridization to detect cytokine mRNA expression by bronchoalveolar lavage cells from nine patients with microbiologically confirmed tuberculosis and nine control subjects.
|
NA
|
{
"id": 51497,
"name": "NELFCD",
"pos": [
38,
8
]
}
|
{
"id": "C0041327",
"name": "Tuberculosis, Pulmonary",
"pos": [
101,
22
]
}
|
Transactivation response DNA-binding protein 43 (TDP-43) proteinopathies are classified based upon the extent of modified TDP-43 and include a growing number of neurodegenerative diseases such as amyotrophic lateral sclerosis, frontotemporal lobar degeneration with ubiquitin-immunoreactive, tau-negative inclusions and frontotemporal lobar degeneration with motor neuron disease.
|
NA
|
{
"id": 2737,
"name": "GLI3",
"pos": [
25,
19
]
}
|
{
"id": "C0085084",
"name": "Motor Neuron Disease",
"pos": [
359,
20
]
}
|
Here a panel of four sporadic Wilms tumours with associated nephrogenic rest tissue and characterised WTX and CTNNB1 mutations is studied to ascertain the temporal sequence of acquisition of these mutations.
|
genomic_alterations
|
{
"id": 1499,
"name": "CTNNB1",
"pos": [
110,
6
]
}
|
{
"id": "C1320468",
"name": "Nephrogenic rest",
"pos": [
60,
16
]
}
|
When a baseline (0.9% Lys) diet was given, we verified mild alterations of the activities of some respiratory chain complexes in cerebral cortex and hippocampus, but not in striatum from Gcdh-/- mice as compared to WT animals.
|
NA
|
{
"id": 2639,
"name": "GCDH",
"pos": [
187,
4
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
55,
4
]
}
|
Etoposide, cisplatin and tumor necrosis factor-alpha induced apoptosis of C6 rat glioma cells which was associated with ceramide formation due to activation of neutral sphingomyelinase, followed by release of mitochondrial cytochrome c into the cytosol and activation of caspases-9 and -3.
|
NA
|
{
"id": 54205,
"name": "CYCS",
"pos": [
223,
12
]
}
|
{
"id": "C0017638",
"name": "Glioma",
"pos": [
81,
6
]
}
|
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