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dict | t
dict |
|---|---|---|---|
The expression of S100P increases and promotes cellular proliferation by increasing nuclear translocation of β-catenin in endometrial cancer.
|
NA
|
{
"id": 6286,
"name": "S100P",
"pos": [
18,
5
]
}
|
{
"id": "C0476089",
"name": "Endometrial Carcinoma",
"pos": [
122,
18
]
}
|
We identified fusions in PRKACA and PRKACB genes in pancreatic and biliary IOPNs, as well as in PDACs and pancreatic cyst fluid and bile duct cells from the same patients.
|
genomic_alterations
|
{
"id": 5567,
"name": "PRKACB",
"pos": [
36,
6
]
}
|
{
"id": "C1832661",
"name": "ANOPHTHALMIA AND PULMONARY HYPOPLASIA",
"pos": [
96,
4
]
}
|
While p16 immunohistochemistry (IHC) is typically used as a surrogate for HR-HPV status in the oropharynx and cervix, its overexpression can also occur as a result of oncogenic stress and sometimes prove nonspecific.
|
biomarker
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
6,
3
]
}
|
{
"id": "C0549523",
"name": "Oropharynx (excludes nasopharynx)",
"pos": [
95,
10
]
}
|
Thirty-three PD patients, homozygous for the COMT alleles COMT(HH) (n = 17) and COMT(LL) (n = 16), were randomized in a double-blind crossover trial consisting of 2 successive acute levodopa challenges associated with 200mg entacapone or placebo.
|
NA
|
{
"id": 1312,
"name": "COMT",
"pos": [
80,
4
]
}
|
{
"id": "C0456909",
"name": "Blindness",
"pos": [
127,
5
]
}
|
Here, we demonstrated that CSLCs-derived from lung adenocarcinoma (LAC) cells displayed highly invasive and migratory capabilities via expressing high levels of POU5F1 and MMP-2.
|
NA
|
{
"id": 3938,
"name": "LCT",
"pos": [
67,
3
]
}
|
{
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
46,
19
]
}
|
Alpha-cardiac actin is one of the disease genes where different missense mutations have been found to cause either HCM or DCM.
|
genomic_alterations
|
{
"id": 59,
"name": "ACTA2",
"pos": [
0,
19
]
}
|
{
"id": "C0007194",
"name": "Hypertrophic Cardiomyopathy",
"pos": [
115,
3
]
}
|
This study was conducted to determine the prognostic significance of the human papillomavirus (HPV) genotype using the HPV DNA chip (HDC) test and the HPV viral load by the hybrid capture II assay (HC2) in FIGO stage IB-IIA cervical cancer undergoing radical hysterectomy.
|
NA
|
{
"id": 3067,
"name": "HDC",
"pos": [
133,
3
]
}
|
{
"id": "C4048328",
"name": "cervical cancer",
"pos": [
224,
15
]
}
|
We performed a meta-analysis of 24 studies on FLG mutations and eczema involving 5,791 cases, 26,454 control subjects, and 1,951 families as well as 17 studies on asthma involving 3,138 cases, 17,164 control subjects, and 1,511 offspring.
|
NA
|
{
"id": 2260,
"name": "FGFR1",
"pos": [
46,
3
]
}
|
{
"id": "C0013595",
"name": "Eczema",
"pos": [
64,
6
]
}
|
Our results indicate that PCa-secreted CCN3 can recruit macrophages and skew their differentiation to an M2 phenotype.
|
biomarker
|
{
"id": 4856,
"name": "CCN3",
"pos": [
39,
4
]
}
|
{
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
26,
3
]
}
|
FLT3 and MLL intragenic abnormalities in AML reflect a common category of genotoxic stress.
|
NA
|
{
"id": 2322,
"name": "FLT3",
"pos": [
0,
4
]
}
|
{
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
24,
13
]
}
|
At the vitelliruptive and atrophic stages, on some parts, the HD OCT scan revealed hyperreflective mottling on the RPE layer, probably representing areas of focal RPE hypertrophy.
|
NA
|
{
"id": 6120,
"name": "RPE",
"pos": [
115,
3
]
}
|
{
"id": "C0333641",
"name": "Atrophic",
"pos": [
26,
8
]
}
|
Massive inflammatory syndrome and lymphocytic immunodeficiency in KARAP/DAP12-transgenic mice.
|
NA
|
{
"id": 7305,
"name": "TYROBP",
"pos": [
72,
5
]
}
|
{
"id": "C0021051",
"name": "Immunologic Deficiency Syndromes",
"pos": [
46,
16
]
}
|
The common (minor allele frequency [MAF] >5%) single-nucleotide polymorphisms tagging the common haplotypes (tagged SNPs [tSNPs]) were identified and genotyped in 1985 subjects with type 2 diabetes, 2,047 control subjects and 521 families.
|
NA
|
{
"id": 4094,
"name": "MAF",
"pos": [
36,
3
]
}
|
{
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
182,
15
]
}
|
For rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis and osteoarthritis diseases, those common factors include TNFSF10, CX3CR1, LY96, TLR5, TXN, TIA1, PRKCH, and PRF1.
|
NA
|
{
"id": 8743,
"name": "TNFSF10",
"pos": [
137,
7
]
}
|
{
"id": "C0038012",
"name": "Spondylitis",
"pos": [
67,
11
]
}
|
A cohort of 338 candidemia patients and 351 noninfected controls were genotyped for single-nucleotide polymorphisms (SNPs) in 6 cytokine genes (IFNG, IL10, IL12B, IL18, IL1β, IL8) and 1 cytokine receptor gene (IL12RB1).
|
NA
|
{
"id": 3594,
"name": "IL12RB1",
"pos": [
210,
7
]
}
|
{
"id": "C0877445",
"name": "Candidemia",
"pos": [
16,
10
]
}
|
Myotonic Dystrophy type 1 (DM1), the most prevalent adult onset muscular dystrophy, is a trinucleotide repeat expansion disease caused by CTG expansion in the 3'-UTR of DMPK gene.
|
NA
|
{
"id": 8170,
"name": "SLC14A2",
"pos": [
162,
3
]
}
|
{
"id": "C0026850",
"name": "Muscular Dystrophy",
"pos": [
64,
18
]
}
|
Effects of inflammation and therapy were investigated in RA and OA fibroblasts after stimulation with interleukin (IL)-1beta, tumour necrosis factor (TNF)-alpha, methotrexate (MTX), and prednisolone.
|
NA
|
{
"id": 4580,
"name": "MTX1",
"pos": [
176,
3
]
}
|
{
"id": "C0021368",
"name": "Inflammation",
"pos": [
11,
12
]
}
|
These changes in LPL may be due to improved insulin sensitivity, or to other changes associated with acromegaly treatment.
|
NA
|
{
"id": 3936,
"name": "LCP1",
"pos": [
17,
3
]
}
|
{
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
44,
19
]
}
|
The pS2 trefoil protein has been detected in close association with neuro-endocrine differentiation in prostate cancer and prostatic intraepithelial neoplasia.
|
NA
|
{
"id": 5664,
"name": "PSEN2",
"pos": [
4,
3
]
}
|
{
"id": "C0282612",
"name": "Prostatic Intraepithelial Neoplasias",
"pos": [
123,
35
]
}
|
Here we have investigated the effect of hypoxia on the transcription of the gastrin gene in human gastric cancer (AGS) cells.
|
NA
|
{
"id": 2520,
"name": "GAST",
"pos": [
76,
12
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
40,
7
]
}
|
In tumors ATAD2B appears to be cytoplasmic or membrane bound, and not nuclear.
|
NA
|
{
"id": 54454,
"name": "ATAD2B",
"pos": [
10,
6
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
3,
6
]
}
|
JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot.
|
NA
|
{
"id": 182,
"name": "JAG1",
"pos": [
0,
4
]
}
|
{
"id": "C0220704",
"name": "Shprintzen syndrome",
"pos": [
32,
16
]
}
|
Angiotensinogen (AGT) and angiotensin-converting enzyme (ACE) are recognized as important regulators of body mass index (BMI) and systemic blood pressure (BP).
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
57,
3
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
139,
14
]
}
|
T-cell receptor delta gene recombination in common acute lymphoblastic leukemia: preferential usage of V delta 2 and frequent involvement of the J alpha cluster.
|
biomarker
|
{
"id": 5694,
"name": "PSMB6",
"pos": [
16,
5
]
}
|
{
"id": "C0349637",
"name": "Common acute lymphoblastic leukemia",
"pos": [
44,
35
]
}
|
Myelin protein zero mutation His39Pro: hereditary motor and sensory neuropathy with variable onset, hearing loss, restless legs and multiple sclerosis.
|
genomic_alterations
|
{
"id": 4359,
"name": "MPZ",
"pos": [
0,
19
]
}
|
{
"id": "C0027888",
"name": "Hereditary Motor and Sensory Neuropathies",
"pos": [
39,
39
]
}
|
For blood pressure and heart rate, pretreatment with a midportion beta-endorphin antiserum resulted in a parallel shift to the right of the dose-response curve for alpha-methyldopa.
|
NA
|
{
"id": 5443,
"name": "POMC",
"pos": [
66,
14
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
4,
14
]
}
|
Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase.
|
genomic_alterations
|
{
"id": 1666,
"name": "DECR1",
"pos": [
129,
5
]
}
|
{
"id": "C0409974",
"name": "Lupus Erythematosus",
"pos": [
0,
5
]
}
|
Our results suggest that ARAP3 is a unique Src substrate that suppresses peritoneal dissemination of scirrhous gastric carcinoma cells.
|
NA
|
{
"id": 64411,
"name": "ARAP3",
"pos": [
25,
5
]
}
|
{
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
111,
17
]
}
|
Oligonucleotide analysis was used to confirm the coinheritance of the delta +27 mutation in a group of Sardinians with thalassemia like phenotype and normal HbA2 level who, on the basis of genetic criteria, were supposed to be double heterozygous for delta-thalassemia and beta-thalassemia.
|
genomic_alterations
|
{
"id": 3040,
"name": "HBA2",
"pos": [
157,
4
]
}
|
{
"id": "C0005283",
"name": "beta Thalassemia",
"pos": [
273,
16
]
}
|
To evaluate a possible role of p16, an inhibitor of G1/S transition of the cell cycle, in the carcinogenesis of EBVaGC, p16-immunohistochemistry and methylation-specific PCR analysis (MSP) were applied to surgically resected gastric carcinomas.
|
NA
|
{
"id": 89782,
"name": "LMLN",
"pos": [
184,
3
]
}
|
{
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
94,
14
]
}
|
Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and PFM.
|
NA
|
{
"id": 1029,
"name": "CDKN2A",
"pos": [
19,
3
]
}
|
{
"id": "C0015306",
"name": "Hereditary Multiple Exostoses",
"pos": [
97,
18
]
}
|
A female patient with the karyotype 45,X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome.
|
NA
|
{
"id": 8909,
"name": "ENDOU",
"pos": [
53,
3
]
}
|
{
"id": "C0424605",
"name": "Developmental delay (disorder)",
"pos": [
75,
19
]
}
|
The sporadic nature of the SMEI syndrome and the occurrence of SCN1A and GABRG2 mutations in a mild familial phenotype, termed generalized epilepsy with febrile seizure plus complicates genotype-phenotype correlations.
|
NA
|
{
"id": 2566,
"name": "GABRG2",
"pos": [
73,
6
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
95,
4
]
}
|
FOXO1 associated with sensitivity to chemotherapy drugs and glial-mesenchymal transition in glioma.
|
biomarker
|
{
"id": 2308,
"name": "FOXO1",
"pos": [
0,
5
]
}
|
{
"id": "C0017638",
"name": "Glioma",
"pos": [
92,
6
]
}
|
We report on a child, who presented with spasticity, multisystem inflammation, autoimmunity and immunodeficiency with minimal metaphyseal changes due to compound heterozygosity for two novel ACP5 mutations.
|
NA
|
{
"id": 54,
"name": "ACP5",
"pos": [
191,
4
]
}
|
{
"id": "C0021051",
"name": "Immunologic Deficiency Syndromes",
"pos": [
96,
16
]
}
|
The tumour cells displayed a strong immunoreactivity for insulin and CT. Cytogenetical evaluation of the tumour revealed a translocation t(1;9) (p13;p22).
|
NA
|
{
"id": 51013,
"name": "EXOSC1",
"pos": [
145,
3
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
105,
6
]
}
|
This novel functional skipping-splicing EDA mutation was considered to be the cause of HED in the two pedigrees reported here.
|
genomic_alterations
|
{
"id": 1896,
"name": "EDA",
"pos": [
40,
3
]
}
|
{
"id": "C3888065",
"name": "ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT",
"pos": [
87,
3
]
}
|
Identification of genetic associations of SP110/MYBBP1A/RELA with pulmonary tuberculosis in the Chinese Han population.
|
NA
|
{
"id": 5376,
"name": "PMP22",
"pos": [
42,
5
]
}
|
{
"id": "C0041327",
"name": "Tuberculosis, Pulmonary",
"pos": [
66,
22
]
}
|
In sporadic colorectal cancer (CRC), c.827A>C showed allele-specific LOH of the c.827A allele, which is important because LOH of PTPRJ may be an early event during sporadic CRC.
|
NA
|
{
"id": 5795,
"name": "PTPRJ",
"pos": [
129,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
164,
8
]
}
|
Nevertheless, imatinib mesylate induced rapid and complete hematological responses in treated FIP1L1-PDGFRalpha cases, followed by molecular remission and reversal of myelofibrosis.
|
NA
|
{
"id": 81608,
"name": "FIP1L1",
"pos": [
94,
6
]
}
|
{
"id": "C0026987",
"name": "Myelofibrosis",
"pos": [
167,
13
]
}
|
Abundant copy-number loss of CYCLOPS and STOP genes in gastric adenocarcinoma.
|
biomarker
|
{
"id": 4135,
"name": "MAP6",
"pos": [
41,
4
]
}
|
{
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
55,
22
]
}
|
Cytokine effects on cortical neuron MAP-2 immunoreactivity: implications for schizophrenia.
|
biomarker
|
{
"id": 4133,
"name": "MAP2",
"pos": [
36,
5
]
}
|
{
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
77,
13
]
}
|
The diet increased both amyloid precursor protein (APP) and Aβ in the cortex of TASTPM but did not alter Aβ plaque load, presenilin 1, or β-secretase (BACE1) expression.
|
NA
|
{
"id": 23621,
"name": "BACE1",
"pos": [
151,
5
]
}
|
{
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
108,
6
]
}
|
All cases were analyzed via fluorescence in situ hybridization (FISH) using Vysis ALK Break Apart FISH Probes for detection of ALK chromosomal translocation and Vysis Dual Color Probes to assess for increased gene copy number of EGFR.
|
NA
|
{
"id": 238,
"name": "ALK",
"pos": [
127,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
131,
25
]
}
|
STXBP2 may thus be a novel susceptibility locus for myocardial infarction in Japanese.
|
genomic_alterations
|
{
"id": 6813,
"name": "STXBP2",
"pos": [
0,
6
]
}
|
{
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
52,
21
]
}
|
HCT prior to onset of neurologic symptoms in children with OSTM1 osteopetrosis does not halt neurologic progression.
|
biomarker
|
{
"id": 28962,
"name": "OSTM1",
"pos": [
59,
5
]
}
|
{
"id": "C0235031",
"name": "Neurologic Symptoms",
"pos": [
22,
31
]
}
|
In DAB2IP knockout mice, we discovered the hyperplasia in colonic epithelium which aberrantly represents the mesenchymal feature and NF-κB pathway activation.
|
NA
|
{
"id": 4790,
"name": "NFKB1",
"pos": [
133,
5
]
}
|
{
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
43,
11
]
}
|
For ABR thresholds in the range 30 to 40dB nHL, a mild hearing loss was determined; moderate hearing loss was diagnosed for ABR thresholds in the range 50 to 60dB nHL.
|
NA
|
{
"id": 29,
"name": "ABR",
"pos": [
124,
3
]
}
|
{
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
50,
4
]
}
|
For the first time we have shown the presence of Ca2+-dependent SAP-DNA complexes, measured by ELISA, in sera from both healthy volunteers and systemic lupus erythematosus patients (SLE).
|
NA
|
{
"id": 760,
"name": "CA2",
"pos": [
49,
3
]
}
|
{
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
143,
28
]
}
|
Anti-Ro52 positivity was more prevalent in RP-ILD.
|
biomarker
|
{
"id": 6737,
"name": "TRIM21",
"pos": [
5,
4
]
}
|
{
"id": "C0206062",
"name": "Lung Diseases, Interstitial",
"pos": [
43,
6
]
}
|
Arginase I (ARG1) deficiency is an autosomal recessive urea cycle disorder, caused by deficiency of the enzyme Arginase I, resulting in accumulation of arginine in blood.
|
genomic_alterations
|
{
"id": 383,
"name": "ARG1",
"pos": [
0,
10
]
}
|
{
"id": "C0154246",
"name": "Urea Cycle Disorders, Inborn",
"pos": [
55,
19
]
}
|
Several studies have recently reported the presence of relationship between HindIII, PvuII, Ser447Ter (C-->G) polymorphisms of LPL and ischemic vascular diseases.
|
NA
|
{
"id": 3936,
"name": "LCP1",
"pos": [
127,
3
]
}
|
{
"id": "C0042373",
"name": "Vascular Diseases",
"pos": [
144,
17
]
}
|
Affected individuals of two NPH3 families and one SLS family with haplotypes indicative for homozygosity by descent for the NPHP3/SLSN3 locus were studied.No mutation in KIAA0678 was detected.
|
genomic_alterations
|
{
"id": 11248,
"name": "NXPH3",
"pos": [
28,
4
]
}
|
{
"id": "C1858392",
"name": "NEPHRONOPHTHISIS 3",
"pos": [
124,
5
]
}
|
A total of 158 patients with > or = 70% stenosis in one or more coronary artery (angiographically proven CAD patients), 35 subjects with < 70% stenosis (NCAD) and 151 normal controls (free of heart disease) from Northern plains of India were recruited in the study.
|
NA
|
{
"id": 1000,
"name": "CDH2",
"pos": [
153,
4
]
}
|
{
"id": "C1261287",
"name": "Stenosis",
"pos": [
143,
8
]
}
|
The mannose-binding lectin pathway-an overall regulatory component of the complement system-is a particularly promising biomarker as it is directly involved in the development of diabetic angiopathy.
|
NA
|
{
"id": 4153,
"name": "MBL2",
"pos": [
4,
22
]
}
|
{
"id": "C0011875",
"name": "Diabetic Angiopathies",
"pos": [
179,
19
]
}
|
Immunosuppression is cornerstone treatment of antineutrophil cytoplasmic antibody associated vasculitis (AAV) but is later complicated by infection, cancer, cardiovascular and chronic kidney disease.
|
NA
|
{
"id": 17,
"name": "AAVS1",
"pos": [
105,
3
]
}
|
{
"id": "C0042384",
"name": "Vasculitis",
"pos": [
93,
10
]
}
|
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is a syndromic form of X-linked mental retardation.
|
NA
|
{
"id": 84168,
"name": "ANTXR1",
"pos": [
56,
3
]
}
|
{
"id": "C0002312",
"name": "alpha-Thalassemia",
"pos": [
9,
17
]
}
|
Our data suggest that children with MBL codon 54 AB or BB genotype are more susceptible to brucellosis.
|
NA
|
{
"id": 4153,
"name": "MBL2",
"pos": [
36,
3
]
}
|
{
"id": "C0006309",
"name": "Brucellosis",
"pos": [
91,
11
]
}
|
We here report the case of a patient who was concomitantly diagnosed with Carney complex, due to a new mutation in PRKAR1A ((NM_002734.3:c.80_83del, p.(Ile27Lysfs*101 in exon 2), and acromegaly.
|
genomic_alterations
|
{
"id": 5573,
"name": "PRKAR1A",
"pos": [
115,
7
]
}
|
{
"id": "C0001206",
"name": "Acromegaly",
"pos": [
183,
10
]
}
|
It seems that increased risk of thrombotic complications could be explained in the patient by a synergy between the effects of Heerlen polymorphism, factor V Leiden heterozygous status and antiphospholipid syndrome.
|
genomic_alterations
|
{
"id": 2153,
"name": "F5",
"pos": [
149,
15
]
}
|
{
"id": "C0085278",
"name": "Antiphospholipid Syndrome",
"pos": [
189,
25
]
}
|
Cyclin E2 induction of genomic instability by a mechanism distinct from cyclin E1 indicates that these two proteins have unique functions in a cancer setting.
|
NA
|
{
"id": 9134,
"name": "CCNE2",
"pos": [
0,
9
]
}
|
{
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
23,
19
]
}
|
However, the detailed pathologic study of asymptomatic women with germ-line BRCA 1 or BRCA2 (BCRA+) mutations has unearthed an early malignancy, serous tubal intraepithelial carcinomas (STIC), which has linked many peritoneal and ovarian serous carcinomas to the fimbria.
|
NA
|
{
"id": 675,
"name": "BRCA2",
"pos": [
86,
5
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
42,
12
]
}
|
Most screening programmes are currently based on findings from endoscopic ultrasonography and MRI, and data has demonstrated that precursor lesions of pancreatic cancer can be identified.
|
NA
|
{
"id": 78996,
"name": "CYREN",
"pos": [
94,
3
]
}
|
{
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
151,
17
]
}
|
T category (P less than 0.0001), SPF (P less than 0.0001), histological grade (P less than 0.0001), papillarity (P = 0.0021), DNA aneuploidy (P = 0.0094) and G2 fraction (P = 0.0340) predicted cancer-related survival.
|
NA
|
{
"id": 23541,
"name": "SEC14L2",
"pos": [
33,
3
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
130,
10
]
}
|
Therefore, it was of interest to determine if any TAP alleles were associated with IDDM.
|
genomic_alterations
|
{
"id": 8615,
"name": "USO1",
"pos": [
50,
3
]
}
|
{
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
83,
4
]
}
|
Other notable associations (P < 6.09 × 10(-6)) included SNPs in five genes for neuroticism (LCE3C, POLR3A, LMAN1L, ULK3, SCAMP2), KIAA0802 for extraversion, and NOS1 for general psychological distress.
|
NA
|
{
"id": 353144,
"name": "LCE3C",
"pos": [
92,
5
]
}
|
{
"id": "C0815107",
"name": "psychological distress",
"pos": [
178,
22
]
}
|
25 SNPs in the SCNN1A, SCNN1B, SCNN1G, NEDD4L, NDFIP2, and USP2 loci were found to be associated with blood pressure.
|
NA
|
{
"id": 6340,
"name": "SCNN1G",
"pos": [
31,
6
]
}
|
{
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
102,
14
]
}
|
U0126 inhibited cisplatin-induced migration of cells in vivo, suggesting that ERK2 signaling is critical to cisplatin-induced EMT and CSC phenotypes, and that targeting ERK2 in the presence of cisplatin may reduce the burden of residual tumor, the ultimate cause of recurrence in ovarian cancer patients.
|
NA
|
{
"id": 5594,
"name": "MAPK1",
"pos": [
169,
4
]
}
|
{
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
228,
14
]
}
|
Blockage of let-7 miRNA biogensis and subsequent derepression of let-7 miRNA target genes by LIN28/LIN28B play important roles in cancer progression and metastasis.
|
biomarker
|
{
"id": 389421,
"name": "LIN28B",
"pos": [
99,
6
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
153,
10
]
}
|
Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome.
|
NA
|
{
"id": 658,
"name": "BMPR1B",
"pos": [
40,
6
]
}
|
{
"id": "C4551826",
"name": "Symphalangism-brachydactyly syndrome",
"pos": [
116,
32
]
}
|
OVCs were mainly characterized by DNA Index (DI) values in the near-diploid region (DI≠1 and DI < 1.4), whereas aneuploid OSCCs carried most frequently multiple aneuploid sublines with high DI values (DI ≥ 1.4).
|
NA
|
{
"id": 6765,
"name": "ST8",
"pos": [
0,
4
]
}
|
{
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
161,
9
]
}
|
Mild endoplasmic reticulum stress promotes retinal neovascularization via induction of BiP/GRP78.
|
NA
|
{
"id": 3309,
"name": "HSPA5",
"pos": [
91,
5
]
}
|
{
"id": "C0035320",
"name": "Retinal Neovascularization",
"pos": [
43,
26
]
}
|
Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.
|
genomic_alterations
|
{
"id": 8898,
"name": "MTMR2",
"pos": [
17,
5
]
}
|
{
"id": "C1832399",
"name": "Charcot-Marie-Tooth disease, Type 4B1",
"pos": [
95,
35
]
}
|
Recently, mutations in human IRF8 were discovered and shown to cause two distinct forms of a novel primary immunodeficiency and associated susceptibility to mycobacteria.
|
genomic_alterations
|
{
"id": 3394,
"name": "IRF8",
"pos": [
29,
4
]
}
|
{
"id": "C0398686",
"name": "Primary immune deficiency disorder",
"pos": [
99,
24
]
}
|
With regard to mechanism, we show that hypoxia promotes replication of the B19V genome within the nucleus, and that this is independent of the canonical PHD/HIFα pathway, but dependent on STAT5A and MEK/ERK signaling.
|
NA
|
{
"id": 2048,
"name": "EPHB2",
"pos": [
203,
3
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
39,
7
]
}
|
Because pituitary hormones such as growth hormone (GH), ACTH, and thyroid-stimulating hormone affect body weight and composition, appetite, insulin sensitivity, and lipoprotein metabolism, we investigated whether MCH exerts direct effects on the human pituitary to regulate energy balance using dispersed human fetal pituitaries (21-22 wk gestation) and cultured GH-secreting adenomas.
|
NA
|
{
"id": 5367,
"name": "PMCH",
"pos": [
213,
3
]
}
|
{
"id": "C0005910",
"name": "Body Weight",
"pos": [
101,
11
]
}
|
However, GPER silencing abrogated the above hypoxia-driven cytokine expression in CAFs.
|
NA
|
{
"id": 2852,
"name": "GPER1",
"pos": [
9,
4
]
}
|
{
"id": "C0242184",
"name": "Hypoxia",
"pos": [
44,
7
]
}
|
Connecting cancer biology and clinical outcomes to imaging in KRAS mutant and wild-type colorectal cancer liver tumors following selective internal radiation therapy with yttrium-90.
|
genomic_alterations
|
{
"id": 3845,
"name": "KRAS",
"pos": [
62,
4
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
11,
6
]
}
|
When comparing EGFR expression between primary biopsy and resection specimen (n=19), viable residual tumor cells in resection specimens revealed a lower EGFR expression and a tendency toward membranous staining compared with the initial biopsy.
|
NA
|
{
"id": 1956,
"name": "EGFR",
"pos": [
153,
4
]
}
|
{
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
92,
14
]
}
|
DNA methylation of the MLH1, CDKN2A, MGMT, THBS1, RARB, APC, and p14ARF genes was found in 0%, 23%, 10%, 3%, 73%, 53%, and 33% of 30 MSI-H cancers in HNPCC patients and in 80%, 55%, 23%, 23%, 58%, 35%, and 50% of 40 sporadic colorectal cancers with MSI-H, respectively.
|
NA
|
{
"id": 5915,
"name": "RARB",
"pos": [
50,
4
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
216,
8
]
}
|
However, unlike humans with an MCT8 deficiency, these mice do not have neurological impairment.
|
NA
|
{
"id": 6567,
"name": "SLC16A2",
"pos": [
31,
4
]
}
|
{
"id": "C0521654",
"name": "Neurologic Deficits",
"pos": [
71,
23
]
}
|
XIAP was colocalized with XAF-1, Smac, and HtrA2 in injured neurons after hypoxia-ischemia (HI).
|
NA
|
{
"id": 27429,
"name": "HTRA2",
"pos": [
43,
5
]
}
|
{
"id": "C0022116",
"name": "Ischemia",
"pos": [
82,
8
]
}
|
Recently, the ACE mutation c.3705C>T (Pro1199Leu) was identified as the genetic correlate in European cases of asymptomatic autosomal dominant hyper-ACE-emia.
|
NA
|
{
"id": 1636,
"name": "ACE",
"pos": [
149,
3
]
}
|
{
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
111,
12
]
}
|
CHRNB4 demethylation was associated with upregulation of its mRNA expression and was more frequent in squamous cell carcinoma and pathological stages II-IIIA disease than in adenocarcinoma and pathological stage I disease, respectively (P=0.003 and P=0.01, respectively).
|
NA
|
{
"id": 1143,
"name": "CHRNB4",
"pos": [
0,
6
]
}
|
{
"id": "C0007137",
"name": "Squamous cell carcinoma",
"pos": [
102,
23
]
}
|
Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
|
NA
|
{
"id": 100,
"name": "ADA",
"pos": [
75,
19
]
}
|
{
"id": "C1855106",
"name": "Neonatal onset",
"pos": [
60,
14
]
}
|
Chromosomal analysis of a patient with chronic myelocytic leukemia (CML) revealed a translocation (9;12) (q34;q21) without a detectable Philadelphia chromosome (Ph1).
|
NA
|
{
"id": 189,
"name": "AGXT",
"pos": [
161,
3
]
}
|
{
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
39,
27
]
}
|
In addition, we report here five new loci for prostate cancer susceptibility, at 5p15 (lambda-corrected probability P(GC) = 3.9 x 10(-18)), GPRC6A/RFX6 (P(GC) = 1.6 x 10(-12)), 13q22 (P(GC) = 2.8 x 10(-9)), C2orf43 (P(GC) = 7.5 x 10(-8)) and FOXP4 (P(GC) = 7.6 x 10(-8)).
|
NA
|
{
"id": 222546,
"name": "RFX6",
"pos": [
147,
4
]
}
|
{
"id": "C3469524",
"name": "PROSTATE CANCER, SUSCEPTIBILITY TO",
"pos": [
46,
30
]
}
|
PGC-1 proteins and heart failure.
|
NA
|
{
"id": 5225,
"name": "PGC",
"pos": [
0,
3
]
}
|
{
"id": "C0018802",
"name": "Congestive heart failure",
"pos": [
19,
13
]
}
|
ALK gene rearrangements are identified in 2-5 % of all non-small cell lung cancer and are more common in lifetime non-smokers with adenocarcinoma, but the prevalence of ALK rearrangements is not as well characterized in long-term ex-smokers (quit >10 years prior to diagnosis).
|
genomic_alterations
|
{
"id": 238,
"name": "ALK",
"pos": [
0,
3
]
}
|
{
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
131,
14
]
}
|
QTc measurements and rates of fainting for the present analysis are available from families with KVLQT1, HERG, or SCN5A genotypes.
|
genomic_alterations
|
{
"id": 3784,
"name": "KCNQ1",
"pos": [
97,
6
]
}
|
{
"id": "C0039070",
"name": "Syncope",
"pos": [
30,
8
]
}
|
We previously showed that the inflammasome, which regulates the caspase-1-dependent interleukin-1β production, mediates the sterile cardiovascular inflammatory responses.
|
NA
|
{
"id": 834,
"name": "CASP1",
"pos": [
64,
9
]
}
|
{
"id": "C0021359",
"name": "Infertility",
"pos": [
124,
7
]
}
|
In analysis of the alleles combination, a significant difference was observed in waist to hip ratio among the groups stratified by the carrying number of the alleles of β3AR Arg, β2AR Arg and UCP1 G (p=0.026), and the waist to hip ratio was significantly higher in the carriers of four and five risk alleles than in the carriers from zero to three risk alleles (p=0.005).
|
NA
|
{
"id": 7350,
"name": "UCP1",
"pos": [
192,
4
]
}
|
{
"id": "C0205682",
"name": "Waist-Hip Ratio",
"pos": [
218,
18
]
}
|
Angiotensin-converting enzyme gene polymorphism in children with idiopathic nephrotic syndrome.
|
genomic_alterations
|
{
"id": 1636,
"name": "ACE",
"pos": [
0,
29
]
}
|
{
"id": "C1704321",
"name": "Nephrotic Syndrome, Minimal Change",
"pos": [
65,
29
]
}
|
Medium conditioned by human pancreatic carcinoma cells inhibited iMo-DC proliferation, expression of costimulatory molecules (CD80 and CD40) and of HLA-DR, and functional activity as assessed by MLR and IL-12p70 production.
|
NA
|
{
"id": 4306,
"name": "NR3C2",
"pos": [
195,
3
]
}
|
{
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
28,
20
]
}
|
This hypothesis ascribes for the first time a possible key role played by astrocytes in CD, linking the lack of ASPA activity in myelinating oligodendrocytes, the pathological buildup of NAA in WM ECF, and the spongiform demyelination process.
|
NA
|
{
"id": 443,
"name": "ASPA",
"pos": [
112,
4
]
}
|
{
"id": "C0011304",
"name": "Demyelination",
"pos": [
221,
13
]
}
|
However, patients with 7th edition stage group II prostate cancer and prostate specific antigen 20 ng/ml or greater had significantly better 15-year biochemical recurrence-free survival (42.2% vs 31.3%, p = 0.007), metastasis-free survival (78.2% vs 68.0%, p <0.001) and cancer specific survival (88.0% vs 83.4%, p = 0.01) than patients with 7th edition stage group III.
|
genomic_alterations
|
{
"id": 354,
"name": "KLK3",
"pos": [
70,
25
]
}
|
{
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
274,
6
]
}
|
FUS-DDIT3 is a chimeric oncogene generated by the most common chromosomal translocation t(12;16)(q13;p11) associated to liposarcomas.
|
NA
|
{
"id": 8909,
"name": "ENDOU",
"pos": [
101,
3
]
}
|
{
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
62,
25
]
}
|
FOXE1 locus polymorphisms (chromosome 9q22.33) were recently associated with increased sporadic thyroid cancer risk.
|
NA
|
{
"id": 2304,
"name": "FOXE1",
"pos": [
0,
5
]
}
|
{
"id": "C1853237",
"name": "Isolated cases",
"pos": [
87,
8
]
}
|
We detected repression of a set of cellular growth-related genes by the TRPS1-USP4-HDAC2 axis indicating it is essential in tumor growth.
|
biomarker
|
{
"id": 7375,
"name": "USP4",
"pos": [
78,
4
]
}
|
{
"id": "C0027651",
"name": "Neoplasms",
"pos": [
124,
5
]
}
|
Histochemical analysis of the index case's muscle showed deficiency of glycosylated α-dystroglycan and secondary merosin deficiency.
|
NA
|
{
"id": 3908,
"name": "LAMA2",
"pos": [
113,
7
]
}
|
{
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
103,
9
]
}
|
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