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The IGR-CaP1 cell line is a unique model derived from a primary tumor, which can reconstitute human prostate adenocarcinoma in animals and generate experimental bone metastases, providing a novel means for understanding the mechanisms of bone metastasis progression and allowing preclinical testing of new therapies. | NA | {
"id": 10487,
"name": "CAP1",
"pos": [
8,
4
]
} | {
"id": "C0007112",
"name": "Adenocarcinoma of prostate",
"pos": [
100,
23
]
} |
PAG was also increased in patients with MHE and correlated with MELD, INR, esophageal varices and serum bile acids. | NA | {
"id": 55824,
"name": "PAG1",
"pos": [
0,
3
]
} | {
"id": "C0014867",
"name": "Esophageal Varices",
"pos": [
75,
18
]
} |
When compared to presbyacusis patients, speech recognition scores of patients with a TRPV4 mutation are not clearly different. | NA | {
"id": 59341,
"name": "TRPV4",
"pos": [
85,
5
]
} | {
"id": "C0033074",
"name": "Presbycusis",
"pos": [
17,
12
]
} |
PLZF mediates the PTEN/AKT/FOXO3a signaling in suppression of prostate tumorigenesis. | NA | {
"id": 7704,
"name": "ZBTB16",
"pos": [
0,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
71,
13
]
} |
The thioredoxin-thioredoxin reductase (TRX-TRXR) system has been found to play a critical role in GC tumorigenesis and progression. | biomarker | {
"id": 7295,
"name": "TXN",
"pos": [
4,
11
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
101,
13
]
} |
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": "C0267797",
"name": "Acute hepatitis",
"pos": [
97,
15
]
} |
The aims of this study were to assess the cytotoxic capability of lymphokine-activated killer (LAK) cells from umbilical cord blood (UCB), to compare them with those of peripheral blood (PB)-derived cells against anaplastic astrocytoma cell line (U87) and medulloblastoma cell line (TE671), and to identify which mechanism and genes were involved in cytotoxicity. | NA | {
"id": 80216,
"name": "ALPK1",
"pos": [
95,
3
]
} | {
"id": "C0025149",
"name": "Medulloblastoma",
"pos": [
256,
15
]
} |
Platelet endothelial cell adhesion molecule-1 (PECAM-1) (CD31) is an adhesion molecule believed to mediate transendothelial migration of neutrophils and other leukocytes after CD11/CD18-mediated adhesion. | NA | {
"id": 3689,
"name": "ITGB2",
"pos": [
181,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
195,
8
]
} |
Furthermore, GFAP positive cells in the peri-infarct area express Rhamm. | NA | {
"id": 3161,
"name": "HMMR",
"pos": [
66,
5
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
45,
7
]
} |
TIG1 suppressed PGE2-stimulated Wnt and cAMP signaling pathways in colon cancer cells through GRK5. | NA | {
"id": 2869,
"name": "GRK5",
"pos": [
94,
4
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
67,
12
]
} |
All individual markers and genetic scores were analyzed in relation to plasma viral load (VL) and CD4 T lymphocytes during a 6-12-month interval when no antiretroviral therapy was taken. | NA | {
"id": 920,
"name": "CD4",
"pos": [
98,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
78,
10
]
} |
Despite the inability to form NETS, neutrophils from this patient killed pathogens in vitro, and the patient did not exhibit evidence of an increased propensity toward bacterial infections. | NA | {
"id": 11005,
"name": "SPINK5",
"pos": [
30,
4
]
} | {
"id": "C0004623",
"name": "Bacterial Infections",
"pos": [
168,
20
]
} |
WRS is characterized clinically through infantile insulin-dependent diabetes mellitus, neutropenia, recurrent infections, propensity for liver failure following viral infections, bone dysplasia, and developmental delay. | biomarker | {
"id": 7453,
"name": "WARS1",
"pos": [
0,
3
]
} | {
"id": "C0085605",
"name": "Liver Failure",
"pos": [
137,
13
]
} |
Angiotensin II (Ang II) raises blood pressure (BP) by a number of actions, the most important ones being vasoconstriction, sympathetic nervous stimulation, increased aldosterone biosynthesis and renal actions. | NA | {
"id": 183,
"name": "AGT",
"pos": [
0,
14
]
} | {
"id": "C0027769",
"name": "Nervousness",
"pos": [
135,
7
]
} |
Haplotypes that included DDX39B (-22C > G and -348C > T) and TNF polymorphisms were not directly associated with mild or complicated malaria infections; however, haplotypes AGC, ACC, GGT, AGT and ACT were associated with increased TNF levels. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
231,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
113,
4
]
} |
However, the biologic and clinical significance of the RAC1 P29S somatic mutation in approximately 4% to 9% of patients remains unclear. | NA | {
"id": 5879,
"name": "RAC1",
"pos": [
55,
4
]
} | {
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
65,
16
]
} |
Additionally, it is well recognized that supernumerary ring and/or giant rod chromosomes are characteristic for atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma, and amplification of 12q13-15 involving the MDM2, CDK4, and CPM genes is shown by FISH in these tumors. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
286,
4
]
} | {
"id": "C1370889",
"name": "Liposarcoma, well differentiated",
"pos": [
112,
25
]
} |
Animal and in vitro experiments suggest that ABCA1 not only mediates cholesterol and phospholipid efflux, but is also involved in the regulation of apoptosis and inflammation. | NA | {
"id": 19,
"name": "ABCA1",
"pos": [
45,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
162,
12
]
} |
Tumor Proportion Score ≥ 50% was seen in 34% (23/68), 28% (7/25) and 25% (1/4) of RAS, EGFR mutant, and ALK translocated carcinomas, respectively. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
89,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
0,
5
]
} |
t(11;18)(q21;q21) is a characteristic chromosomal translocation in mucosa-associated lymphoid tissue (MALT) type lymphoma, and this translocation results in fusion transcript of apoptosis inhibitor 2 (API2), also known as c-IAP2, and MALT translocation gene 1 (MALT1). | NA | {
"id": 330,
"name": "BIRC3",
"pos": [
201,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
239,
13
]
} |
Employing immunohistochemistry and video image analysis expression of vascular endothelial growth factor (VEGF), vascular density (by α-SMA and CD31 staining) and myocyte cross sectional area (Gomori's reticuline staining) were assessed in ToF-1 and adult patients (referred as ToF-2, n = 12, mean age 30 years) who underwent surgery for pulmonary regurgitation and compared the data with respective age matched controls (n = 6/12). | NA | {
"id": 7422,
"name": "VEGFA",
"pos": [
106,
4
]
} | {
"id": "C0034088",
"name": "Pulmonary Valve Insufficiency",
"pos": [
338,
23
]
} |
The two main histological types of infiltrating breast cancer, lobular (ILC) and the more common ductal (IDC) carcinoma are morphologically and clinically distinct. | NA | {
"id": 10850,
"name": "CCL27",
"pos": [
72,
3
]
} | {
"id": "C0853879",
"name": "Invasive carcinoma of breast",
"pos": [
35,
26
]
} |
rhIL-11 also induces secretion of acute phase proteins (ferritin, haptoglobin, C-reactive protein, and fibrinogen) from the liver. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
79,
18
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
103,
10
]
} |
These observations suggest that MT1-MMP is a key molecule capable of executing conversion of stationary TICs to invasive TICs under hypoxic conditions and thereby controlling metastasis. | NA | {
"id": 4323,
"name": "MMP14",
"pos": [
32,
7
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
132,
7
]
} |
However, unlike that in HAM/TSP patients, the viral load in peripheral-blood mononuclear cells was not necessarily high in the seropositive Sjögren syndrome group. | NA | {
"id": 7057,
"name": "THBS1",
"pos": [
28,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
46,
10
]
} |
A variant in the DNM3 gene (rs2421947) has been reported as a genetic modifier of age at onset in LRRK2-associated PD. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
98,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
115,
2
]
} |
Given the involvement of ABCB6 mutations in coloboma, we performed ophthalmological examination of the DUH carriers of ABCB6 mutations and found ocular abnormalities in them. | NA | {
"id": 10058,
"name": "ABCB6",
"pos": [
119,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
152,
13
]
} |
RGCs, amacrine and bipolar cells all demonstrated an increased expression of EPOR after ocular hypertension. | NA | {
"id": 2057,
"name": "EPOR",
"pos": [
77,
4
]
} | {
"id": "C0028840",
"name": "Ocular Hypertension",
"pos": [
88,
19
]
} |
We examined the associations between bladder cancer and 7 polymorphisms from 5 genes involved in the maintenance of genetic stability (MMR: MLH1-93G>A; BER: XRCC1--77T>C and Arg399Gln; NER:XPC Lys939Gln and PAT +/-; DSBR:ATM G5557A and XRCC7 G6721T) in 302 incident bladder cancer cases and 311 hospital controls. | genomic_alterations | {
"id": 4292,
"name": "MLH1",
"pos": [
140,
4
]
} | {
"id": "C0699885",
"name": "Carcinoma of bladder",
"pos": [
37,
14
]
} |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; MIM 221770), also known as Nasu-Hakola disease, is a recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
85,
3
]
} | {
"id": "C0497327",
"name": "Dementia",
"pos": [
254,
8
]
} |
The effects of treatment with NPY on infarct volume and hemodynamic parameters were investigated in the present study. | NA | {
"id": 4852,
"name": "NPY",
"pos": [
30,
3
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
37,
7
]
} |
We evaluated the prevalence of MPL mutations relative to JAK2 mutations in patients with suspected MPDs. | genomic_alterations | {
"id": 4352,
"name": "MPL",
"pos": [
31,
3
]
} | {
"id": "C1292778",
"name": "Chronic myeloproliferative disorder",
"pos": [
99,
3
]
} |
A weak association was noted between the rare TGFB1 +1632 T allele and AS in the Finnish population (P = 0.04) and in the combined data set (P = 0.03). | genomic_alterations | {
"id": 7040,
"name": "TGFB1",
"pos": [
46,
5
]
} | {
"id": "C0038013",
"name": "Ankylosing spondylitis",
"pos": [
71,
2
]
} |
Furthermore, adenovirus-mediated transfer of human apo A-I and LCAT genes in mice also increases circulating apo A-I and LCAT. | NA | {
"id": 3931,
"name": "LCAT",
"pos": [
121,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
13,
10
]
} |
To determine the effects of food restriction (FR) on the expression of Sirt1 and its down-stream factors related to lipid and glucose metabolism in obese and hypertensive rats (SHRSP/IDmcr-fa), as a model of human metabolic syndrome. | therapeutic | {
"id": 23411,
"name": "SIRT1",
"pos": [
71,
5
]
} | {
"id": "C0524620",
"name": "Metabolic Syndrome X",
"pos": [
214,
18
]
} |
High-grade and muscle-invasive tumors are characterized by Tp53 mutations and aneuploidy. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
59,
4
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
78,
10
]
} |
To determine whether GBP-1 participates in lung adenocarcinoma invasion, we performed migration and wound healing assays using RERF-LC-OK cells transfected with various siRNAs. | biomarker | {
"id": 2633,
"name": "GBP1",
"pos": [
21,
5
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
43,
19
]
} |
Migraine, particularly with aura, is an independent risk factor for IS, and the patient's IS risk is probably affected by other individual risk factors (e.g., age, genetic predisposition to thrombosis, presence of patent foramen ovale or enhanced platelet aggregation) which seem to be over-represented in migraine patients. | genomic_alterations | {
"id": 5973,
"name": "RENBP",
"pos": [
159,
3
]
} | {
"id": "C0344724",
"name": "Ostium secundum atrial septal defect",
"pos": [
214,
20
]
} |
Mice homozygous for a targeted hypomorphic allele (mgR) of Fbn1 revealed a predictable sequence of abnormalities in the vessel wall including elastic fiber calcification, excessive deposition of matrix elements, elastolysis, and intimal hyperplasia. | NA | {
"id": 2200,
"name": "FBN1",
"pos": [
59,
4
]
} | {
"id": "C0334096",
"name": "Intimal proliferation",
"pos": [
229,
19
]
} |
Bone marrow cells of a 45-year-old female with Philadelphia chromosome (Ph1)-positive, early-phase chronic myelogenous leukemia (CML), who was heterozygous for the glucose-6-phosphate dehydrogenase (G6PD) locus, were pretreated in vitro with 4-hydroperoxycyclophosphamide (4-HC) and tested for G6PD activity in several colony formation assays and for karyotypic abnormalities. | NA | {
"id": 189,
"name": "AGXT",
"pos": [
72,
3
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
99,
28
]
} |
KLF6 increases PPARα activity, whereas KLF6 loss leads to PPARα repression and attenuation of lipid and glucose abnormalities associated with a high fat diet. | NA | {
"id": 1316,
"name": "KLF6",
"pos": [
0,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
112,
13
]
} |
Recent evidence has implicated matrix metalloproteinase 2 (MMP-2) in the pathogenesis of aneurysms. | NA | {
"id": 4313,
"name": "MMP2",
"pos": [
31,
26
]
} | {
"id": "C0002940",
"name": "Aneurysm",
"pos": [
89,
9
]
} |
In vivo MRI experiments on tumor-bearing mice demonstrate that the anti-VEGF-conjugate@IO achieves an appreciable accumulation into liver tumor, suggesting their potential utility as tumor-selective MRI contrast agents. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
199,
3
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
132,
11
]
} |
RPE abnormalities were found in this population-based cohort at a frequency that was lower than that reported earlier. | NA | {
"id": 6120,
"name": "RPE",
"pos": [
0,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
4,
13
]
} |
BDNF met-carriers displaying few schizotypal personality traits performed best, whereas BDNF met-carriers displaying high schizotypal personality traits performed worst. | NA | {
"id": 627,
"name": "BDNF",
"pos": [
88,
4
]
} | {
"id": "C0233849",
"name": "Personality Traits",
"pos": [
134,
18
]
} |
Tissue microarray-based immunohistochemical staining showed significantly different (P < 0.001) p65 nuclear translocation between the neurons of tumor-surrounding cerebella (10/10; 100%) and medulloblastoma tissues (20/117; 17.09%). | genomic_alterations | {
"id": 64689,
"name": "GORASP1",
"pos": [
99,
3
]
} | {
"id": "C0025149",
"name": "Medulloblastoma",
"pos": [
194,
15
]
} |
Elastic net-Cox's proportional regression hazards model (EN-COX) was used to identify the prognostic associated factors. | NA | {
"id": 1351,
"name": "COX8A",
"pos": [
60,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
31,
10
]
} |
MCK-driven transgenic expression of Dp260 in mdx/utrn(-/-) mice converts their disease course from a severe, lethal muscular dystrophy to a viable, mild myopathic phenotype. | NA | {
"id": 7402,
"name": "UTRN",
"pos": [
49,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
148,
4
]
} |
Thus, PRR5 may represent a potential candidate tumor suppressor gene in breast cancer. | biomarker | {
"id": 55615,
"name": "PRR5",
"pos": [
6,
4
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
72,
13
]
} |
The high frequencies of chromosomal aberrations and amplifications of AURKA and MYCN genes indicate prognostic value in children with neuroblastomas and may point to contributing factors in their development. | NA | {
"id": 6790,
"name": "AURKA",
"pos": [
70,
5
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
24,
23
]
} |
Dilated fundus examination revealed scalloped areas of retinal pigment epithelium (RPE) atrophy in the mid-periphery and widespread atrophy in the posterior pole. | NA | {
"id": 6120,
"name": "RPE",
"pos": [
83,
3
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
132,
7
]
} |
"New-for-stroke" genes that were linked to the increased vasculature density in young animals included Angpt2, Angptl2, Angptl4, Cib1, Ccr2, Col4a2, Cxcl1, Lef1, Hhex, Lamc1, Nid2, Pcam1, Plod2, Runx3, Scpep1, S100a4, Tgfbi, and Wnt4, which are required for sprouting angiogenesis, reconstruction of the basal lamina (BL), and the resolution phase. | NA | {
"id": 5352,
"name": "PLOD2",
"pos": [
188,
5
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
9,
6
]
} |
We analyzed the SCN1A gene in 87 patients with acute encephalopathy, consisting of 20 with acute necrotizing encephalopathy (ANE), 61 with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), and six with nonspecific (unclassified) acute encephalopathy. | NA | {
"id": 6323,
"name": "SCN1A",
"pos": [
16,
10
]
} | {
"id": "C1855020",
"name": "Acute necrotizing encephalopathy",
"pos": [
91,
32
]
} |
This report describes a family with TUBB1-associated macrothrombocytopenia diagnosed based on abnormal platelet β1-tubulin distribution. | NA | {
"id": 203068,
"name": "TUBB",
"pos": [
112,
10
]
} | {
"id": "C2751260",
"name": "Macrothrombocytopenia",
"pos": [
53,
21
]
} |
Therefore, the smoking group with the T allele has the highest risk of VD, and synergy appears to exist between the MTHFR gene polymorphisms and smoking in susceptibility to VD. | NA | {
"id": 4524,
"name": "MTHFR",
"pos": [
116,
10
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
145,
7
]
} |
Carriers of the haplotype TAT for rs12574073, rs1128334 and rs4937333 were associated with increased risk of AS and haplotype CGC with reduced risk as compared to controls. | genomic_alterations | {
"id": 6898,
"name": "TAT",
"pos": [
26,
3
]
} | {
"id": "C0038013",
"name": "Ankylosing spondylitis",
"pos": [
109,
2
]
} |
We analyzed 80 patients with unexplained neonatal or early-infantile seizures and associated psychomotor retardation for KCNQ2 and KCNQ3 mutations. | NA | {
"id": 3786,
"name": "KCNQ3",
"pos": [
131,
5
]
} | {
"id": "C0424230",
"name": "Motor retardation",
"pos": [
93,
23
]
} |
To further elucidate the role of antigen selection in the evolution of gastric low-grade MALT-type lymphoma, we analyzed intraclonal variations of the immunoglobulin heavy-chain variable region (Ig VH) genes expressed in three cases of lymphoma. | genomic_alterations | {
"id": 28309,
"name": "IGHV3OR16-7",
"pos": [
151,
42
]
} | {
"id": "C1332979",
"name": "Childhood Lymphoma",
"pos": [
236,
8
]
} |
To elucidate disease-associated malformations such as frequent abortions, fetal edema, cystic hygroma, or cardiac defects, we studied Chrna1, Chrnb1, Chrnd, Chrng, and Rapsn in mouse embryos and found expression in skeletal muscles but also in early somite development. | NA | {
"id": 1140,
"name": "CHRNB1",
"pos": [
142,
6
]
} | {
"id": "C0206620",
"name": "Lymphangioma, Cystic",
"pos": [
87,
14
]
} |
The typical HCC patient was a 49-year-old male positive for hepatitis B surface antigen presenting with hepatomegaly (93%), abdominal pain (94%) and weight loss (95%) 8 weeks after symptom onset. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
12,
3
]
} | {
"id": "C0000737",
"name": "Abdominal Pain",
"pos": [
124,
14
]
} |
Overexpression of IL-22 protected lung cancer cell lines from serum starvation-induced and chemotherapeutic drug-induced apoptosis via activation of STAT3 and its downstream antiapoptotic proteins such as Bcl-2 and Bcl-xL and inactivation of extracellular signal-regulated kinase 1/2. | NA | {
"id": 6774,
"name": "STAT3",
"pos": [
149,
5
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
68,
10
]
} |
We identified three genes matching all of our selection criteria for a tumor-suppressor gene (period homolog 3 [PER3], insulin-like growth-factor-binding protein, acid labile subunit [IGFALS], and protein Z). | NA | {
"id": 8858,
"name": "PROZ",
"pos": [
197,
9
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
71,
5
]
} |
In case 3, a dir ins (18;5)(q21.3;p13.1p14) was associated with spontaneous abortions, in case 4, the proband with mental retardation, microcephaly, and a heart defect showed a pure trisomy of (12)(q13-->q15), which had segregated from a carrier of an ins (18;12)(p11.3;q13q15). | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
34,
3
]
} | {
"id": "C0018798",
"name": "Congenital Heart Defects",
"pos": [
155,
12
]
} |
This is because RBCs express a B3 chaperone-like molecule in the form of Glycophorin A that can rescue the majority of B3 mutations that cause dRTA but probably not the majority of HS mutations. | genomic_alterations | {
"id": 2993,
"name": "GYPA",
"pos": [
73,
13
]
} | {
"id": "C0037889",
"name": "Hereditary spherocytosis",
"pos": [
181,
2
]
} |
This positive regulation by MDC1 might contribute to the suppression of breast cancer progression by acting as a barrier of positive to negative ERα function transformation. | biomarker | {
"id": 9656,
"name": "MDC1",
"pos": [
28,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
72,
13
]
} |
The RT-PCR results revealed that Fas expression preceded that of DcR3 during the early phases of tumorigenesis. | NA | {
"id": 8771,
"name": "TNFRSF6B",
"pos": [
65,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
97,
13
]
} |
The possible interactions of APOE genotype, gender, and SMC on HRQL, depression, and anxiety were investigated statistically. | NA | {
"id": 54808,
"name": "DYM",
"pos": [
56,
3
]
} | {
"id": "C0003467",
"name": "Anxiety",
"pos": [
85,
7
]
} |
When subjects were divided into the 3 groups according to the histological severity of gastric mucosal atrophy: the non-atrophic gastritis (NA) group (atrophy score=0 and metaplasia score=0), the severe atrophic gastritis (SA) group (atrophy score>=2 or metaplasia score>=2), and the mild atrophic gastritis (MA) group (all others), synergistic effect was found between numbers of IL-1β-31C, IL-1β-511T variant alleles with co-factors on the development of gastric atrophy in the antrum (gender + H. pylori + number of IL-1β-31C allele: p=0.001, age + gender + H. pylori + number of IL-1β-31C allele: p=0.0008, gender + H. pylori + number of IL-1β-511T allele: p=0.016, age + gender + H. pylori + number of IL-1β-511T allele: p=0.013), while such association was found for TNF-α-857 T allele in the antrum and all genotypes in the corpus. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
773,
5
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
284,
4
]
} |
Genetic variations in the genes encoding receptor activator nuclear factor κ B (RANK), receptor activator nuclear factor κ B ligand (RANKL) and osteoprotegerin (OPG) in patients with psoriasis and psoriatic arthritis: a case-control study. | NA | {
"id": 8600,
"name": "TNFSF11",
"pos": [
133,
5
]
} | {
"id": "C0003872",
"name": "Arthritis, Psoriatic",
"pos": [
197,
19
]
} |
To study the effects of excision repair cross-complementing 1 (ERCC1) on the pathophysiological process of brain ischemia, we examined the changes in ERCC1 expression, as well as the functional significance of ERCC1 in the rat brain following middle cerebral artery occlusion (MCAO). | NA | {
"id": 2067,
"name": "ERCC1",
"pos": [
210,
5
]
} | {
"id": "C0007786",
"name": "Brain Ischemia",
"pos": [
107,
14
]
} |
DNA sequencing analysis of CRYAA, CRYBB2, CRYGA-D, GJA3, GJA8, and PAX6 of the affected members of a family (C-35) showed a novel heterozygous missense mutation C>A at position 229 in CRYGD in three affected members of family C-35 with anterior polar coronary cataract. | NA | {
"id": 5080,
"name": "PAX6",
"pos": [
67,
4
]
} | {
"id": "C0702108",
"name": "Coronary cataract",
"pos": [
251,
17
]
} |
The 2-SNP CHGB promoter haplotypes had a profound (p=3.16E-20) effect on blood pressure (BP) in the European ancestry population, with a rank order of CT<AA<<CA<AT on both systolic blood pressure (SBP) and diastolic blood pressure (DBP), accounting for approximately 2.3% to approximately 3.4% of SBP/DBP variance; the haplotype effects on BP in vivo paralleled those on promoter activity in cella. | NA | {
"id": 1628,
"name": "DBP",
"pos": [
301,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
181,
14
]
} |
Distinct morphologic features of this entity include marrow basophilia and myelodysplasia, and immunophenotypically, the blast cells are positive for CD9, CD13, CD33, and HLA-DR; are usually positive for CD45 and CD38; and may be positive for CD15, CD34, and terminal deoxynucleotidyl transferase. | NA | {
"id": 290,
"name": "ANPEP",
"pos": [
155,
4
]
} | {
"id": "C0702266",
"name": "Basophilia",
"pos": [
60,
10
]
} |
CD157 is specifically increased in pleural fluid in tuberculous pleurisy patients compared to pneumonia and lung cancer patients. | biomarker | {
"id": 683,
"name": "BST1",
"pos": [
0,
5
]
} | {
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
108,
11
]
} |
The marked cytoplasmic expression of PRMT5 was frequently observed in high-grade subtypes (1 of 17 low grade, 21 of 81 intermediate grade, and 25 of 32 high grade; P < .0001) such as solid adenocarcinoma with the low expression of thyroid transcription factor 1 (the master regulator of lung) and low expression of cytokeratin 7 and E-cadherin (2 markers for bronchial epithelial differentiation), whereas the high nuclear expression of PRMT5 was frequently noted in adenocarcinoma in situ, a low-grade subtype (6 of 17 low grade, 25 of 81 intermediate grade, and 3 of 32 high grade; P = .0444). | NA | {
"id": 999,
"name": "CDH1",
"pos": [
333,
10
]
} | {
"id": "C0334276",
"name": "Adenocarcinoma in Situ",
"pos": [
467,
22
]
} |
Interestingly, both CTNS and CARKL are absent in nearly half of all cystinosis patients (i.e., those homozygous for the common deletion). | NA | {
"id": 23729,
"name": "SHPK",
"pos": [
29,
5
]
} | {
"id": "C4316899",
"name": "Cystinosis",
"pos": [
68,
10
]
} |
In lymphocytes from chronic HBV patients with rs10204525 genotype AA, no similar effects were observed. miR-4717 levels in peripheral lymphocytes from patients with HBV-related chronic hepatitis, cirrhosis and HCC were significantly decreased. | genomic_alterations | {
"id": 100616241,
"name": "MIR4717",
"pos": [
104,
8
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
210,
3
]
} |
Our results suggested that alterations of FzE3 or hsFRP were frequent in gastric cancer. | genomic_alterations | {
"id": 2487,
"name": "FRZB",
"pos": [
50,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
73,
14
]
} |
Association of promoter polymorphisms in MMP2 and TIMP2 with prostate cancer susceptibility in North India. | NA | {
"id": 7077,
"name": "TIMP2",
"pos": [
50,
5
]
} | {
"id": "C3469524",
"name": "PROSTATE CANCER, SUSCEPTIBILITY TO",
"pos": [
61,
30
]
} |
In conclusion, our study showed that the p53 and p38α MAPK signal axis facilitated HOXA5's role in inhibiting growth and stimulating apoptosis of osteosarcoma cells. | biomarker | {
"id": 3202,
"name": "HOXA5",
"pos": [
83,
5
]
} | {
"id": "C0585442",
"name": "Osteosarcoma of bone",
"pos": [
146,
12
]
} |
The clinical symptoms of the disease were consistently moderate/mild in these 11 patients, whereas factor IX coagulation values obtained from the medical records varied more than sixfold between individuals. | NA | {
"id": 2158,
"name": "F9",
"pos": [
99,
9
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
64,
4
]
} |
Since its initial characterization in the nervous system, NF-κB has shown to respond to multiple signals and elicit pleiotropic activities suggesting that it may play a pivotal role in integration of different types of information within the brain. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
58,
5
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
42,
14
]
} |
Expression and modulation of progesterone induced blocking factor (PIBF) and innate immune factors in human leukemia cell lines by progesterone and mifepristone. | NA | {
"id": 10464,
"name": "PIBF1",
"pos": [
67,
4
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
108,
8
]
} |
In this study, we identify somatic and germ-line mutations in the gene encoding for polypeptide N-acetylgalactosaminyltransferase 12 (GALNT12) in individuals with colon cancer. | NA | {
"id": 79695,
"name": "GALNT12",
"pos": [
134,
7
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
163,
12
]
} |
The epithelial membrane protein 3 (EMP3) gene located on chromosome 19q13 has been implicated as a candidate tumor suppressor gene (TSG) in neuroblastomas and gliomas. | NA | {
"id": 57045,
"name": "TWSG1",
"pos": [
132,
3
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
159,
7
]
} |
ASC amino-acid transporter 2 (ASCT2) as a novel prognostic marker in non-small cell lung cancer. | biomarker | {
"id": 29108,
"name": "PYCARD",
"pos": [
0,
3
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
69,
26
]
} |
Comparing clinical manifestations, developmental delay and/or mental retardation were milder in TSC1 patients than TSC2 patients for its frequency (P=0.032) and severity (P=0.015); however, no other symptoms were clearly different. | NA | {
"id": 7249,
"name": "TSC2",
"pos": [
115,
4
]
} | {
"id": "C0424605",
"name": "Developmental delay (disorder)",
"pos": [
35,
19
]
} |
Renal magnesium and calcium reabsorption in TAL were analyzed in one homozygous affected patient of each family, one patient with extrarenal hypomagnesemia (ERH), and two control subjects (CSs). | NA | {
"id": 90678,
"name": "LRSAM1",
"pos": [
44,
3
]
} | {
"id": "C0151723",
"name": "Hypomagnesemia",
"pos": [
141,
14
]
} |
Over 100 point mutations in the rhodopsin gene have been associated with retinitis pigmentosa (RP), a family of inherited visual disorders. | NA | {
"id": 6010,
"name": "RHO",
"pos": [
32,
14
]
} | {
"id": "C0042790",
"name": "Vision Disorders",
"pos": [
122,
16
]
} |
These findings demonstrate a novel role for miR-21 in regulating astrocytic hypertrophy and glial scar progression after SCI, and suggest miR-21 as a potential therapeutic target for manipulating gliosis and enhancing functional outcome. | NA | {
"id": 406991,
"name": "MIR21",
"pos": [
138,
6
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
76,
11
]
} |
The mammalian target of rapamycin (mTOR) is a serine/threonine kinase that integrates starvation signals and generates adaptive responses that aim at the maintenance of energy homeostasis. | NA | {
"id": 2011,
"name": "MARK2",
"pos": [
46,
23
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
86,
10
]
} |
Gemcitabine-mediated tumour regression and p53-dependent gene expression: implications for colon and pancreatic cancer therapy. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
43,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
28,
10
]
} |
Because Mlh3;Pms2 deficiency also increased gastrointestinal tumor progression, we used array-CGH to identify a recurrent tumor amplicon. | NA | {
"id": 27030,
"name": "MLH3",
"pos": [
8,
4
]
} | {
"id": "C0017185",
"name": "Gastrointestinal Neoplasms",
"pos": [
44,
22
]
} |
Suppression of alpha(1A)-adrenoceptor-related transduction might have therapeutic implications in some cases of LQT2. | biomarker | {
"id": 148,
"name": "ADRA1A",
"pos": [
15,
22
]
} | {
"id": "C3150943",
"name": "Long Qt Syndrome 2",
"pos": [
112,
4
]
} |
This differential pattern of KAI1 mRNA expression in esophageal and gastric cancers in comparison to pancreatic cancer indicates that KAI1 seems to influence the potential of gastrointestinal cancer cells to metastasize differently. | NA | {
"id": 3732,
"name": "CD82",
"pos": [
134,
4
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
53,
10
]
} |
Coexpression of HSP60 and nuclear beta-catenin predicts a worse prognosis of metastatic head and neck cancer patients. | biomarker | {
"id": 1499,
"name": "CTNNB1",
"pos": [
34,
12
]
} | {
"id": "C0744619",
"name": "Head and neck cancer metastatic",
"pos": [
77,
31
]
} |
Increasing body mass index was independently and negatively associated with the reduction in OTR (p = 0.009). | NA | {
"id": 5021,
"name": "OXTR",
"pos": [
93,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
11,
15
]
} |
Here we present the characterization of the NER defect in two mild TTD patients (TTD6VI and TTD4VI) and confirm the assignment to X-PB. | NA | {
"id": 7376,
"name": "NR1H2",
"pos": [
44,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
62,
4
]
} |
Nebulin is a giant protein expressed at high levels in skeletal muscle. | NA | {
"id": 4703,
"name": "NEB",
"pos": [
0,
7
]
} | {
"id": "C0017547",
"name": "Gigantism",
"pos": [
13,
5
]
} |
The following parameters were monitored: platelets (PLT), fibrinogen (Fib), D-dimer (D-D), activated partial thromboplastin time (APTT), prothrombin time (PT), tumor necrosis factor-a (TNF-a), interferon-g (IFN-g), interleukin-1b (IL-1b), creatinine (Cr), alanine aminotransferase (ALT), creatinine kinase-MB (CK-MB), and endothelin (ET). | NA | {
"id": 7124,
"name": "TNF",
"pos": [
160,
21
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
58,
10
]
} |
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