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stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
MPL mutational frequency in MPNs is substantially less (<10%).
|
genomic_alterations
|
{
"id": 4352,
"name": "MPL",
"pos": [
0,
3
]
}
|
{
"id": "C1292778",
"name": "Chronic myeloproliferative disorder",
"pos": [
28,
3
]
}
|
Mutations of GJB2, the gene encoding connexin 26, have been associated with prelingual, sensorineural hearing loss of mild to profound severity.
|
NA
|
{
"id": 2706,
"name": "GJB2",
"pos": [
37,
11
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
118,
4
]
}
|
FTS, a unique compound capable of regulating both oncogenic Ras and the tumor suppressor p53 may prove particularly useful for the therapy of colon cancer and other treatment-resistant malignancies where Ras is altered and p53 is either wild-type or mutated in positions that allow residual p53 functions.
|
NA
|
{
"id": 64400,
"name": "AKTIP",
"pos": [
0,
3
]
}
|
{
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
142,
12
]
}
|
We cloned members of the opiorphin family of genes into the same mammalian expression backbone (pVAX); 100 microg of these plasmids (pVAX-Vcsa1, -hSMR3A, -hSMR3B and -ProL1) were injected intracorporally into retired breeder rats and the affect on erectile physiology assessed visually, by histology and by measuring the intracavernous pressure (ICP) and blood pressure (BP).
|
NA
|
{
"id": 58503,
"name": "OPRPN",
"pos": [
167,
5
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
355,
14
]
}
|
We hypothesized that NAT1 and NAT2 genetic polymorphisms may influence the risk of oesophageal cancer upon exposure to environmental carcinogens.
|
genomic_alterations
|
{
"id": 9,
"name": "NAT1",
"pos": [
21,
4
]
}
|
{
"id": "C0546837",
"name": "Malignant neoplasm of esophagus",
"pos": [
83,
18
]
}
|
The objective of this study was to define the association between alterations in the genes encoding the Golgi-associated PDZ- and coiled-coil motif containing protein (GOPC), the protein interacting with C kinase 1 (PICK1) and the acrosomal protein zona pellucida binding protein 1 (ZPBP1/sp38) with abnormal sperm head morphology in infertile men.
|
NA
|
{
"id": 11055,
"name": "ZPBP",
"pos": [
289,
4
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
334,
9
]
}
|
However, the biological role of MEG3 and miR-770 in gastric cardia adenocarcinoma (GCA) development and prognosis is poorly defined.
|
biomarker
|
{
"id": 768222,
"name": "MIR770",
"pos": [
41,
7
]
}
|
{
"id": "C1333762",
"name": "Gastric Cardia Adenocarcinoma",
"pos": [
52,
29
]
}
|
The NRF3-POMP-20S proteasome axis has an entirely different effect on cancer than NRF2.
|
biomarker
|
{
"id": 51371,
"name": "POMP",
"pos": [
9,
4
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
70,
6
]
}
|
To understand the genetic mechanisms driving variant and IGHV4-34-expressing hairy-cell leukemias, we performed whole-exome sequencing of leukemia samples from ten affected individuals, including six with matched normal samples.
|
NA
|
{
"id": 28395,
"name": "IGHV4-34",
"pos": [
57,
8
]
}
|
{
"id": "C0023418",
"name": "leukemia",
"pos": [
138,
8
]
}
|
APOE polymorphism and angiographic coronary artery disease severity in the Women's Ischemia Syndrome Evaluation (WISE) study.
|
genomic_alterations
|
{
"id": 348,
"name": "APOE",
"pos": [
0,
4
]
}
|
{
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
35,
23
]
}
|
We identified a novel homozygous nonconservative missense mutation (I26T) in the critical Engrailed homology repressor domain (eh1) of HESX1, the first, to our knowledge, to be described in humans, in a girl with evolving combined pituitary hormone deficiency born to consanguineous parents.
|
NA
|
{
"id": 8820,
"name": "HESX1",
"pos": [
135,
5
]
}
|
{
"id": "C0857439",
"name": "Pituitary hormone deficiency",
"pos": [
231,
28
]
}
|
In the present study, we compared the role of genetic variations of the TLR4 gene in susceptibility to COPD and PTB and illuminated the underlying molecular mechanism of functional single-nucleotide polymorphisms (SNPs).
|
genomic_alterations
|
{
"id": 7099,
"name": "TLR4",
"pos": [
72,
4
]
}
|
{
"id": "C0041327",
"name": "Tuberculosis, Pulmonary",
"pos": [
112,
3
]
}
|
Concerning the effect of polymorphisms, no influence of the ACE and AT1R genotypes were found on the magnitude of the treatment-induced blood pressure reduction (P>0.05).
|
NA
|
{
"id": 185,
"name": "AGTR1",
"pos": [
68,
4
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
136,
14
]
}
|
These results confirm that COX-2, EP2, and EP4 expression and PGE(2) synthesis are up-regulated in cervical cancer tissue and suggest that PGE(2) may regulate neoplastic cell function in cervical carcinoma in an autocrine/paracrine manner via the EP2/EP4 receptors.
|
NA
|
{
"id": 5732,
"name": "PTGER2",
"pos": [
247,
3
]
}
|
{
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
187,
18
]
}
|
Univariate analyses using the Cox regression model showed that a higher ACTN4 gene copy number was able to predict patient outcome more accurately than high actinin-4 immunoreactivity (relative risk: 2.48 vs 1.55).
|
NA
|
{
"id": 81,
"name": "ACTN4",
"pos": [
157,
9
]
}
|
{
"id": "C1836830",
"name": "Developmental regression",
"pos": [
34,
10
]
}
|
Assays of adhesion and invasion of cancer cells to ECM proteins were conducted to investigate whether increased integrin expression affects the interaction between cancer cells and putative integrin ECM ligands.
|
NA
|
{
"id": 22915,
"name": "MMRN1",
"pos": [
199,
3
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
10,
8
]
}
|
When SSV was used as the probe, expression of related onc sequences was absent in all of the hematopoietic cell types examined except for one neoplastic T-cell line (HUT 102), which produces the human T-cell leukemia (lymphoma) retrovirus HTLV.
|
NA
|
{
"id": 5155,
"name": "PDGFB",
"pos": [
5,
3
]
}
|
{
"id": "C0024299",
"name": "Lymphoma",
"pos": [
218,
8
]
}
|
It catalyzes the reduction of glutathione to its thioester; thus, deficiency in GST activity due to homozygous deletion of the GSTT1 gene (null genotype) may play a role in the induction of lung cancer by smoking.
|
NA
|
{
"id": 133482,
"name": "SLCO6A1",
"pos": [
80,
3
]
}
|
{
"id": "C0037369",
"name": "Smoking",
"pos": [
205,
7
]
}
|
This study characterized the PfTip protein, a homolog of the human T‑cell immunomodulatory protein, and examined its function in preventing parasite infection.
|
biomarker
|
{
"id": 81533,
"name": "ITFG1",
"pos": [
67,
31
]
}
|
{
"id": "C0030499",
"name": "Parasitic Diseases",
"pos": [
140,
18
]
}
|
In contrast to PMM2-CDG (CDGIa), there is no cerebellar hypoplasia.
|
biomarker
|
{
"id": 5373,
"name": "PMM2",
"pos": [
15,
4
]
}
|
{
"id": "C0266470",
"name": "Cerebellar Hypoplasia",
"pos": [
45,
21
]
}
|
p16 alterations were significantly associated with high SPF and DNA-aneuploidy.
|
NA
|
{
"id": 23541,
"name": "SEC14L2",
"pos": [
56,
3
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
68,
10
]
}
|
In addition, the number of EPCs recruited and incorporated into intracranial glioma xenografts was significantly higher in tumors formed by control U87 cells than tumors formed by U87 cells containing FPR-siRNA.
|
NA
|
{
"id": 677775,
"name": "SCARNA5",
"pos": [
148,
3
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
163,
6
]
}
|
Loss of DDR1-expression in the kidney delayed renal fibrosis and inflammation in hereditary type IV collagen disease.
|
NA
|
{
"id": 780,
"name": "DDR1",
"pos": [
8,
4
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
65,
12
]
}
|
In that context, guanylate cyclase C (GUCY2C) is an established biomarker and therapeutic target for metastatic colorectal cancer with immunological characteristics that promote durable antitumor efficacy without autoimmunity.
|
biomarker
|
{
"id": 4883,
"name": "NPR3",
"pos": [
17,
19
]
}
|
{
"id": "C4721579",
"name": "Secondary malignant neoplasm of colon and/or rectum",
"pos": [
101,
28
]
}
|
We analyzed the contribution of B-cell CLL/lymphoma 3 (BCL3), a transcription factor that associates with NF-κB, in control of sterile inflammation in the pancreas and biliary system of mice.
|
NA
|
{
"id": 602,
"name": "BCL3",
"pos": [
55,
4
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
127,
7
]
}
|
Thus cten/GAPDH mRNA expression has been correlated with evidence of tumor progression in terms of T and overall stage of lung cancer.
|
NA
|
{
"id": 84951,
"name": "TNS4",
"pos": [
5,
4
]
}
|
{
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
69,
17
]
}
|
Ten of the familial and five of the sporadic cases carried SOD1 mutations.
|
NA
|
{
"id": 6647,
"name": "SOD1",
"pos": [
59,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
36,
8
]
}
|
Here we show that Wnt/beta-catenin signaling plays a critical role in podocyte injury and proteinuria.
|
NA
|
{
"id": 1499,
"name": "CTNNB1",
"pos": [
23,
12
]
}
|
{
"id": "C0033687",
"name": "Proteinuria",
"pos": [
91,
11
]
}
|
The aims of this study were to estimate the percentage of affected relatives of AgP individuals, to analyse the disease phenotypes in relatives and to explore the distributions of genetic polymorphisms of interleukin-6 (IL-6) in AgP patients and in diseased and healthy relatives.
|
genomic_alterations
|
{
"id": 3569,
"name": "IL6",
"pos": [
220,
4
]
}
|
{
"id": "C0031106",
"name": "Aggressive Periodontitis",
"pos": [
229,
3
]
}
|
This study analysed the crosslink between the up regulation of double-stranded RNA-dependent-protein kinase (PKR) and the down regulation of mammalian target of rapamycin (mTOR) signalling pathways via p53, the protein Regulated in the Development and DNA damage response 1 (Redd1) and the tuberous sclerosis complex (TSC2) factors in two beta-amyloid peptide (Abeta) neurotoxicity models.
|
NA
|
{
"id": 7249,
"name": "TSC2",
"pos": [
318,
4
]
}
|
{
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
344,
7
]
}
|
Their shared chromosomal deletion encompassed MN1, PITPNB and TTC28.
|
NA
|
{
"id": 23760,
"name": "PITPNB",
"pos": [
51,
6
]
}
|
{
"id": "C0008628",
"name": "Chromosome Deletion",
"pos": [
13,
20
]
}
|
Urinary MSMB concentrations were determined by ELISA and correlated with urinary PSA, the presence or absence of cancer, rs10993994 genotype and age of onset.
|
genomic_alterations
|
{
"id": 5324,
"name": "PLAG1",
"pos": [
81,
3
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
113,
6
]
}
|
These experiments demonstrate that loss of mouse Cmah can worsen disease severity in more than one form of muscular dystrophy and suggest that Cmah may be a general genetic modifier of muscle disease.
|
NA
|
{
"id": 8418,
"name": "CMAHP",
"pos": [
143,
4
]
}
|
{
"id": "C0026848",
"name": "Myopathy",
"pos": [
185,
14
]
}
|
Orai1 expression was elevated in glioma tissues and several glioma cell lines compared with non-neoplastic brain tissues.
|
NA
|
{
"id": 84876,
"name": "ORAI1",
"pos": [
0,
5
]
}
|
{
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
92,
14
]
}
|
Our data confirms that the angiotensin I converting enzyme genotypes can influence the phenotypic expression of hypertrophy and shows that this influence depends on the mutation, raising the concept of multiple genetic modifiers in familial hypertrophic cardiomyopathy.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
27,
31
]
}
|
{
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
112,
11
]
}
|
Defective HCN channels may therefore in principle also contribute to pathological conditions in the nervous system.
|
NA
|
{
"id": 378938,
"name": "MALAT1",
"pos": [
10,
3
]
}
|
{
"id": "C0422837",
"name": "Neurological observations",
"pos": [
100,
14
]
}
|
The genetic polymorphism of NAT2 is a relevant factor in the risk for developing HCC (inverse odds ratio slow vs rapid = 1.8; 95% CI 1.1-3.0).
|
genomic_alterations
|
{
"id": 10,
"name": "NAT2",
"pos": [
28,
4
]
}
|
{
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
81,
3
]
}
|
In patients with HCV, these included genes that are associated with RNA processing (MED9/NFAT, NSUN2), proliferation, differentiation, hypoxia, or iron metabolism (ISG20, MIG6, HIG2, CA9, NDRG1), whereas none of the nine known iron-related genes showed significant differences between HCV and HH.
|
NA
|
{
"id": 55090,
"name": "MED9",
"pos": [
84,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
135,
7
]
}
|
Activation of the PI3K/AKT pathway correlates with prognosis in stage II colon cancer.
|
biomarker
|
{
"id": 207,
"name": "AKT1",
"pos": [
23,
3
]
}
|
{
"id": "C3146257",
"name": "Stage II Colon Cancer AJCC v7",
"pos": [
64,
21
]
}
|
In addition, there was a trend for lower age-adjusted bone mineral density at the lumbar spine in subjects with less IL-6 protective alleles (up to -9.6%; P = 0.037; P = 0.08 after further adjustment for weight).
|
NA
|
{
"id": 3569,
"name": "IL6",
"pos": [
117,
4
]
}
|
{
"id": "C0005938",
"name": "Bone Density",
"pos": [
54,
20
]
}
|
Structural basis of DDB1-and-Cullin 4-associated Factor 1 (DCAF1) recognition by merlin/NF2 and its implication in tumorigenesis by CD44-mediated inhibition of merlin suppression of DCAF1 function.
|
NA
|
{
"id": 1642,
"name": "DDB1",
"pos": [
20,
4
]
}
|
{
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
115,
13
]
}
|
Silencing of IP10 is positive and independent from IL28B prediction of SVR, which is strongly associated with liver fibrosis in CHC patients.
|
genomic_alterations
|
{
"id": 282617,
"name": "IFNL3",
"pos": [
51,
5
]
}
|
{
"id": "C0239946",
"name": "Fibrosis, Liver",
"pos": [
110,
14
]
}
|
The results suggested that absent α-DG expression and LARGE deregulation were closely associated with nodal metastasis of tongue cancer.
|
NA
|
{
"id": 9215,
"name": "LARGE1",
"pos": [
54,
5
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
108,
10
]
}
|
The coexistence of both 807 T and PlA2 alleles increased the arterial thrombosis risk in patients with APS and preclinical arteriosclerosis in patients with SLE.
|
genomic_alterations
|
{
"id": 8398,
"name": "PLA2G6",
"pos": [
34,
4
]
}
|
{
"id": "C0003850",
"name": "Arteriosclerosis",
"pos": [
123,
16
]
}
|
To determine whether GH/IGF-I modulates the development and growth rate of GHRH-induced pituitary tumors, pituitary growth and histology were evaluated in mice generated from cross-breeding metallothionein promoter-driven hGHRH transgenic mice with GH receptor binding protein (GHR) gene disrupted mice (GHR(-/-)).
|
NA
|
{
"id": 2691,
"name": "GHRH",
"pos": [
75,
4
]
}
|
{
"id": "C0032019",
"name": "Pituitary Neoplasms",
"pos": [
88,
16
]
}
|
The DC-TRN induced changes in the transcriptome were profound, lasting, and consisted of both protective signals and signatures of inflammation and immune exhaustion, with a net result of decreased viral load, without clinical benefit.
|
NA
|
{
"id": 3842,
"name": "TNPO1",
"pos": [
7,
3
]
}
|
{
"id": "C0376705",
"name": "Viral Load result",
"pos": [
198,
10
]
}
|
Importantly, heparanase of epidermal origin appears to facilitate abnormal activation of skin-infiltrating macrophages, thus generating psoriasis-like inflammation conditions, characterized by induction of STAT3, enhanced NF-κB signaling, elevated expression of TNF-α and increased vascularization.
|
NA
|
{
"id": 4790,
"name": "NFKB1",
"pos": [
222,
5
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
282,
15
]
}
|
We now report a TSC hamartoma showing allele loss for markers on chromosome 9q34 in the region of the TSC1 gene.
|
genomic_alterations
|
{
"id": 7248,
"name": "TSC1",
"pos": [
102,
4
]
}
|
{
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
16,
3
]
}
|
Role of central nicotinic and beta-adrenergic receptors in the onset and further development of tail-tremor induced by repeated nicotine administration to rats.
|
therapeutic
|
{
"id": 154,
"name": "ADRB2",
"pos": [
30,
26
]
}
|
{
"id": "C0234377",
"name": "Passive Tremor",
"pos": [
101,
6
]
}
|
White blood cell counts, erythrocyte sedimentation rate (ESR), plasma levels of IL-6 and TNF-α, serum high sensitivity C-reactive Protein (hsCRP), serum lipid profile, plasma levels of glucose and insulin, and homeostatic model assessment of insulin resistance (HOMA-IR) were determined.
|
NA
|
{
"id": 1401,
"name": "CRP",
"pos": [
119,
18
]
}
|
{
"id": "C1619634",
"name": "erythrocyte sedimentation rate result",
"pos": [
25,
30
]
}
|
Focal cerebral ischemia, induced by middle cerebral artery occlusion/reperfusion (MCAO), was conducted at 4 wk after STZ injection.
|
NA
|
{
"id": 6484,
"name": "ST3GAL4",
"pos": [
117,
3
]
}
|
{
"id": "C0740391",
"name": "Middle Cerebral Artery Occlusion",
"pos": [
36,
32
]
}
|
Seven SNPs in the DIO2 gene - rs225014 (rs22501434;7173;7253">rs225014</span>" genes_norm="1734">Thr92Ala</span>), rs12885300, rs2267872, rs225011, rs224995, rs225015, and rs2267873 - were studied to assess their association with GD and GO.
|
genomic_alterations
|
{
"id": 1734,
"name": "DIO2",
"pos": [
18,
4
]
}
|
{
"id": "C0018213",
"name": "Graves Disease",
"pos": [
230,
2
]
}
|
The authors applied new statistical approaches to solve the issue of limited experimental data to generate new hypotheses in CD14(+) cells of patients with HIV-related fatigue (HRF) and healthy controls.
|
NA
|
{
"id": 7178,
"name": "TPT1",
"pos": [
177,
3
]
}
|
{
"id": "C0015672",
"name": "Fatigue",
"pos": [
168,
7
]
}
|
Genetic counselling and antenatal diagnosis is recommended for parents of a WRS patient with confirmed EIF2AK3 mutation.
|
genomic_alterations
|
{
"id": 9451,
"name": "EIF2AK3",
"pos": [
103,
7
]
}
|
{
"id": "C4551647",
"name": "Long QT Syndrome 1",
"pos": [
76,
3
]
}
|
Three distinct patterns were observed: an absence of detectable abnormalities (n = 1), defective PI3 kinase activation with normal induction of NF-kappaB and AP-1 (n = 3), and defects in both PI3 kinase activation and induction of NF-kappaB and AP-1 (n = 1).
|
NA
|
{
"id": 2353,
"name": "FOS",
"pos": [
245,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
64,
13
]
}
|
Demethylation of promoter regulatory elements contributes to CD70 overexpression in CD4+ T cells from patients with subacute cutaneous lupus erythematosus.
|
NA
|
{
"id": 920,
"name": "CD4",
"pos": [
84,
3
]
}
|
{
"id": "C0024140",
"name": "Lupus Erythematosus, Subacute Cutaneous",
"pos": [
116,
38
]
}
|
The present data support post-mortem molecular analysis for the MCAD A985G and MTP G1528C prevalent mutations in cases of sudden and unexplained infant death associated with hepatic steatosis.
|
NA
|
{
"id": 4547,
"name": "MTTP",
"pos": [
79,
3
]
}
|
{
"id": "C0549159",
"name": "Infant Death",
"pos": [
145,
12
]
}
|
In the two-stage Cancer Genetic Markers of Susceptibility prostate cancer scan, a single-nucleotide polymorphism (SNP), rs10486567, located within intron 2 of JAZF1 gene on chromosome 7p15.2, showed a promising association with PrCa overall (P=2.14x10(-6)), with a suggestion of stronger association with aggressive disease (P=1.2x10(-7)).
|
genomic_alterations
|
{
"id": 221895,
"name": "JAZF1",
"pos": [
159,
5
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
17,
6
]
}
|
Genes TGFB1, TLE4 and MUC22 are associated with the risk of childhood asthma in Chinese population.
|
genomic_alterations
|
{
"id": 7091,
"name": "TLE4",
"pos": [
13,
4
]
}
|
{
"id": "C0264408",
"name": "Childhood asthma",
"pos": [
60,
16
]
}
|
Knockdown of DNMT1 and EP300 in L6-S2 DRG neurons of rats reduced DNA methylation and histone acetylation, respectively, and prevented chronic stress-induced increases in visceral pain.
|
NA
|
{
"id": 2033,
"name": "EP300",
"pos": [
23,
5
]
}
|
{
"id": "C0234245",
"name": "Visceral Pain",
"pos": [
171,
13
]
}
|
Further characterization of the role of individual mTOR complexes (mTORC1 and mTORC2) and their upstream and downstream regulators are necessary to reveal whether these pathways are neuroprotective targets for stroke.
|
biomarker
|
{
"id": 2475,
"name": "MTOR",
"pos": [
51,
4
]
}
|
{
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
210,
6
]
}
|
We also found that the interaction between RIP3 and MLKL is required for the translocation of necrosomes to mitochondria-associated membranes.
|
NA
|
{
"id": 197259,
"name": "MLKL",
"pos": [
52,
4
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
77,
13
]
}
|
Genetic loci associated with iron metabolism (TF, TMPRSS6, PCSK7, TFR2 and Chr2p14) in recent GWAS and liver fibrosis (PNPLA3) in recent meta-analysis were analyzed for association with either liver cirrhosis or advanced fibrosis in 148 German HFE C282Y homozygotes.
|
NA
|
{
"id": 164656,
"name": "TMPRSS6",
"pos": [
50,
7
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
221,
8
]
}
|
Mutation detection of MJD1 gene was carried out in 46 AD-HSP families and 58 sporadic cases.
|
NA
|
{
"id": 4287,
"name": "ATXN3",
"pos": [
22,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
77,
8
]
}
|
Mutations in the Rab27a gene cause pigment as well as cytotoxic granule transport defects, accounting for the partial albinism and severe immune disorder characteristics of this syndrome.
|
NA
|
{
"id": 5873,
"name": "RAB27A",
"pos": [
17,
11
]
}
|
{
"id": "C0031911",
"name": "Pigmentation",
"pos": [
35,
7
]
}
|
Tumor specimens were analyzed for microsatellite instability, KRAS (codons 12 and 13), BRAF (V600E), and PIK3CA (exons 9 and 20) mutations; MLH1 and MGMT methylation; and IGF2 expression by immunohistochemistry.
|
NA
|
{
"id": 5290,
"name": "PIK3CA",
"pos": [
105,
6
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
34,
26
]
}
|
Association analysis of COMT/MTHFR polymorphisms and major depressive disorder in Chinese Han population.
|
genomic_alterations
|
{
"id": 1312,
"name": "COMT",
"pos": [
24,
4
]
}
|
{
"id": "C0041696",
"name": "Unipolar Depression",
"pos": [
53,
25
]
}
|
We screened for TSG methylation using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) in 40 lymphoma-derived cell lines representing anaplastic large cell lymphoma, Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL), follicular lymphoma (FL), Hodgkin lymphoma and mantle cell lymphoma (MCL) as well as in 50 primary lymphoma samples.
|
NA
|
{
"id": 57045,
"name": "TWSG1",
"pos": [
16,
3
]
}
|
{
"id": "C0024299",
"name": "Lymphoma",
"pos": [
358,
8
]
}
|
This resulted in deregulated EPOR expression, hypersensitivity to erythropoietin stimulation, and heightened JAK-STAT activation.
|
NA
|
{
"id": 2057,
"name": "EPOR",
"pos": [
29,
4
]
}
|
{
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
46,
16
]
}
|
Atypical plasma cholinesterase, succinylcholine, and prolonged apnea.
|
therapeutic
|
{
"id": 590,
"name": "BCHE",
"pos": [
22,
2
]
}
|
{
"id": "C0003578",
"name": "Apnea",
"pos": [
63,
5
]
}
|
The association of ZNF224 with cognitive impairment was mediated by neurofibrillary tangles, whereas PCK1 largely influenced cognition independent of AD pathology, as well as Lewy bodies and infarcts.
|
NA
|
{
"id": 5105,
"name": "PCK1",
"pos": [
101,
4
]
}
|
{
"id": "C0338656",
"name": "Impaired cognition",
"pos": [
31,
20
]
}
|
The shotgun proteomic based on the approach of tandem mass tag (TMT) labeling has received increasing attention for neuroproteomics analysis and becomes an effective tool for the identification and quantification of a large number of proteins for the purpose of revealing key proteins involved in the neuronal dysfunction and an inflammatory response associated with neurodegenerative disorders.
|
NA
|
{
"id": 25823,
"name": "TPSG1",
"pos": [
64,
3
]
}
|
{
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
367,
27
]
}
|
In clinical samples, we showed that the expression of TES decreased gradually from normal through ductal hyperplasia without atypia, atypical ductal hyperplasia, and ductal carcinoma in situ, to invasive ductal carcinoma.
|
NA
|
{
"id": 26136,
"name": "TES",
"pos": [
54,
3
]
}
|
{
"id": "C1176475",
"name": "Ductal Carcinoma",
"pos": [
204,
16
]
}
|
One such translocation, TRK-T1, forms a fusion protein composed of the carboxyl terminal tyrosine kinase domain of NTRK1 and the amino terminal portion of TPR (Translocated Promoter Region).
|
NA
|
{
"id": 7175,
"name": "TPR",
"pos": [
160,
28
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
9,
13
]
}
|
High glucose (126 mmol/l)-induced peritoneal EMT and fibrosis via the PARP-1 mechanism was examined in the primary culture of rat peritoneal mesothelial cells (PMCs) and in the human peritoneal mesothelial cell line (HMrSv5) in the presence or absence of a PARP-1 inhibitor PJ34 (3x10-6 M) or by knocking down PARP-1 with the PARP-1 siRNA technique.
|
NA
|
{
"id": 3702,
"name": "ITK",
"pos": [
45,
3
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
53,
8
]
}
|
Furthermore, using this endothelial cell model, we describe for the first time the involvement of the leucocyte-adhesion activity of SSAO/VAP-1 in the Aβ (amyloid β-peptide)-mediated pro-inflammatory effect.
|
NA
|
{
"id": 8639,
"name": "AOC3",
"pos": [
138,
5
]
}
|
{
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
112,
8
]
}
|
In BCAR4-expressing cells, phosphorylation of v-erb-b2 erythroblastic leukaemia viral oncogene homolog (ERBB)2, ERBB3, and their downstream mediators extracellular signal-regulated kinase 1/2 and v-akt murine thymoma viral oncogene homolog (AKT) 1/2, was increased.
|
NA
|
{
"id": 400500,
"name": "BCAR4",
"pos": [
3,
5
]
}
|
{
"id": "C0023418",
"name": "leukemia",
"pos": [
70,
9
]
}
|
The up-regulation of expression of the MDGI tumor suppressor gene in normal breast tissue by antiestrogens may contribute to the protective activity of these compounds that is seen in mammary gland carcinogenesis experimental systems and to the decreased risk of contralateral cancer that is seen in women receiving tamoxifen therapy.
|
NA
|
{
"id": 2170,
"name": "FABP3",
"pos": [
39,
4
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
277,
6
]
}
|
Tumor DNA was tested for microsatellite instability and methylation of MLH1.
|
NA
|
{
"id": 4292,
"name": "MLH1",
"pos": [
71,
4
]
}
|
{
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
25,
26
]
}
|
The results revealed that EEET increased myocardial hypertrophy (LV weight/tibial length), myocyte cross-sectional area, hypertrophy-related pathways (IL6/STAT3-MEK5-ERK5, calcineurin-NFATc3, p38 and JNK MAPK), hypertrophic markers (ANP/BNP), pro-apoptotic molecules (cytochrome C, cleaved caspase-3 and PARP), and fibrosis-related pathways (FGF-2-ERK1/2) and fibrosis markers (uPA, MMP-9 and -2).
|
NA
|
{
"id": 4878,
"name": "NPPA",
"pos": [
233,
3
]
}
|
{
"id": "C0016059",
"name": "Fibrosis",
"pos": [
360,
8
]
}
|
In the present study, the CCHCR1 gene coding sequence and its expression was analyzed in normal, precancerous and cervical cancer cells.
|
NA
|
{
"id": 54535,
"name": "CCHCR1",
"pos": [
26,
11
]
}
|
{
"id": "C4048328",
"name": "cervical cancer",
"pos": [
114,
15
]
}
|
Tissue transglutaminase 2 (TG2) is involved in many biological processes, from wound healing to neurodegeneration.
|
NA
|
{
"id": 7052,
"name": "TGM2",
"pos": [
7,
18
]
}
|
{
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
96,
17
]
}
|
We investigated the expression of the REG IV gene in UC and colitic cancer tissues and examined whether cytokines or growth factors are responsible for REG IV gene expression and whether REG IV gene induction affects cell growth and apoptosis in colon cancer cells.
|
NA
|
{
"id": 8114,
"name": "IV",
"pos": [
191,
7
]
}
|
{
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
246,
12
]
}
|
The major restriction antigens for secondary CTL were certain HLA B determinants such as B18, B27, Bw25, Bw62, and Bw63.
|
NA
|
{
"id": 59271,
"name": "EVA1C",
"pos": [
89,
3
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
35,
9
]
}
|
In addition, germline MSH2 and MLH1 mutations have been detected in patients with non-HNPCC early onset colorectal cancer.
|
genomic_alterations
|
{
"id": 4292,
"name": "MLH1",
"pos": [
31,
4
]
}
|
{
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
104,
17
]
}
|
DDX3 expression was investigated by immunohistochemistry in breast cancer in comparison with hypoxia related proteins HIF-1α, GLUT1, CAIX, EGFR, HER2, Akt1, FOXO4, p53, ERα, COMMD1, FER kinase, PIN1, E-cadherin, p21, p27, Transferrin receptor, FOXO3A, c-Met and Notch1.
|
NA
|
{
"id": 10671,
"name": "DCTN6",
"pos": [
217,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
93,
7
]
}
|
The purpose of this study was to investigate whether XFG-associated variants of LOXL1 play a significant role in primary open-angle glaucoma in the Caucasian, African-American, and Ghanaian (West-African) populations.
|
genomic_alterations
|
{
"id": 4016,
"name": "LOXL1",
"pos": [
80,
5
]
}
|
{
"id": "C0339573",
"name": "Glaucoma, Primary Open Angle",
"pos": [
113,
27
]
}
|
Taken together, these findings suggest that galectin-7 is a potential therapeutic target in the treatment of lymphoid malignancies.
|
biomarker
|
{
"id": 3963,
"name": "LGALS7",
"pos": [
44,
10
]
}
|
{
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
118,
12
]
}
|
Recent clinical observations and experimental studies of our group indicate that macrophage migration inhibitory factor (MIF) may contribute to tumor progression in head and neck squamous cell carcinomas (HNSCC).
|
NA
|
{
"id": 4282,
"name": "MIF",
"pos": [
121,
3
]
}
|
{
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
144,
17
]
}
|
To test the hypothesis that FoxO4 promotes early post-MI inflammation via endothelial arginase 1 (Arg1).
|
NA
|
{
"id": 4303,
"name": "FOXO4",
"pos": [
28,
5
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
57,
12
]
}
|
In families consistent with linkage and in the sporadic cases, the authors screened for polymorphisms in CACNA1A using single-strand conformational polymorphism and denaturing high performance liquid chromatography followed by direct sequencing to identify specific nucleotide changes.
|
NA
|
{
"id": 773,
"name": "CACNA1A",
"pos": [
105,
7
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
47,
8
]
}
|
GO mutation screening was performed, and dietary oxalate (Diet(ox)), enteric oxalate absorption (EOA) measured using [13C2] oxalate, renal clearance (GFR), fractional oxalate excretion (FE(ox)) in the children, and urine oxalate in first-degree relatives (FDR) to understand the etiology of the hyperoxaluria.
|
NA
|
{
"id": 9771,
"name": "RAPGEF5",
"pos": [
150,
3
]
}
|
{
"id": "C0020500",
"name": "Hyperoxaluria",
"pos": [
295,
13
]
}
|
Furthermore ependymoma patients may benefit from anti-angiogenic therapies based on the high vascularization as well as the endothelial expression of c-kit and VEGFR2.
|
NA
|
{
"id": 3815,
"name": "KIT",
"pos": [
150,
5
]
}
|
{
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
93,
15
]
}
|
The ATM polymorphisms and microhaplotypes examined did not significantly differ between sporadic rectal cancer and normal population.
|
NA
|
{
"id": 472,
"name": "ATM",
"pos": [
4,
3
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
88,
8
]
}
|
These findings have the potential to be translated into therapy, and support the rationale for the preclinical development of novel renal-specific CB1R and/or GLUT2 inhibitors for the treatment of DN.
|
biomarker
|
{
"id": 1268,
"name": "CNR1",
"pos": [
147,
4
]
}
|
{
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
197,
2
]
}
|
Fragile X mental retardation is caused by the lack of FMRP, a selective RNA-binding protein associated with ribosomes.
|
NA
|
{
"id": 27303,
"name": "RBMS3",
"pos": [
72,
19
]
}
|
{
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
10,
18
]
}
|
Left ventricular hypertrophy was observed in 81% of patients with a number of GAA repeats above the median value of 770 compared with only 14% in the other group (P = .002).
|
NA
|
{
"id": 2548,
"name": "GAA",
"pos": [
78,
3
]
}
|
{
"id": "C0340279",
"name": "Ventricular hypertrophy",
"pos": [
5,
23
]
}
|
A general linear model identified as independent predictors of steatosis TM6SF2 E167K and PNPLA3 M148M variants and waist circumference (P = 0.0376, P = 0.0069 and P = 0.0273 respectively).
|
NA
|
{
"id": 53345,
"name": "TM6SF2",
"pos": [
73,
6
]
}
|
{
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
116,
19
]
}
|
Because all the amyloid deposits of SSA and FAP reacted positively with the antiprealbumin antiserum, a classification of the amyloid fibril proteins of FAP and SSA by immunohistochemistry, using polyclonal anti-prealbumin antisera, was not feasible.
|
NA
|
{
"id": 811,
"name": "CALR",
"pos": [
161,
3
]
}
|
{
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
126,
7
]
}
|
Sequential expression of HIF-1α, Glut-1 and CA9 was found both in transitional areas of OSCC and cell lines of IHOK and OSCC under hypoxia, supporting hypoxia-aerobic glycolysis-acidosis axis.
|
NA
|
{
"id": 3091,
"name": "HIF1A",
"pos": [
25,
6
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
151,
7
]
}
|
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