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We investigated the association between the HIF-1 alpha polymorphisms and the incidence and progression of transitional cell carcinoma of the bladder, and the relationship between the polymorphisms and the tissue vascular endothelial growth factor (VEGF) level or microvessel density (MVD). | NA | {
"id": 29072,
"name": "SETD2",
"pos": [
44,
5
]
} | {
"id": "C0279680",
"name": "Transitional cell carcinoma of bladder",
"pos": [
107,
42
]
} |
The expression of CCR7 in HNSCC increases by dedifferentiation and plays an important role in lymph node metastasis of HNSCC and CXCR4 plays an important role in lymph node metastasis as well as distant metastasis. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
129,
5
]
} | {
"id": "C0002793",
"name": "Anaplasia",
"pos": [
45,
17
]
} |
In conclusion, hypoxia is a potent inducer of NDRG1 in HCCs, albeit requiring additional stimuli within the tumour microenvironment for its recruitment to the membrane. | NA | {
"id": 10397,
"name": "NDRG1",
"pos": [
46,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
15,
7
]
} |
We identified hypermutability of the major cartilage collagen gene COL2A1, with insertions, deletions and rearrangements identified in 37% of cases. | NA | {
"id": 1280,
"name": "COL2A1",
"pos": [
67,
6
]
} | {
"id": "C2931073",
"name": "Collagenopathy, type 2 alpha 1",
"pos": [
43,
18
]
} |
The aim of this study was to evaluate whether SLC11A1 has a role in the susceptibility to inflammatory bowel disease (IBD) by characterizing a promoter polymorphism within the gene and two short tandem repeat (STR) markers in genetic proximity to SLC11A1. | NA | {
"id": 6779,
"name": "STATH",
"pos": [
210,
3
]
} | {
"id": "C0021831",
"name": "Intestinal Diseases",
"pos": [
103,
13
]
} |
Mutational analysis of CDKN1B, a candidate tumor-suppressor gene, in refractory secondary/tertiary hyperparathyroidism. | NA | {
"id": 1027,
"name": "CDKN1B",
"pos": [
23,
6
]
} | {
"id": "C0271858",
"name": "Tertiary hyperparathyroidism",
"pos": [
90,
28
]
} |
Studies on p53, BAX and Bcl-2 protein expression and microsatellite instability in stage III (UICC) colon cancer treated by adjuvant chemotherapy: major prognostic impact of proapoptotic BAX. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
11,
3
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
53,
26
]
} |
Clinical correlates of NRAS and BRAF mutations in primary human melanoma. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
23,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
64,
8
]
} |
The aim of the present study was to evaluate four single nucleotide polymorphisms (SNPs) of APLNR genes (rs11544374 and rs948847), LEPR (rs1137101) and leptin (rs7799039) gene in patients with CAD and hypertension. | genomic_alterations | {
"id": 3953,
"name": "LEPR",
"pos": [
131,
4
]
} | {
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
201,
12
]
} |
Increased hippocampal activation has also been reported in carriers of the ApoE-4 allelic variation independently of mild cognitive impairment although these findings were not localized to a hippocampal subregion. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
75,
6
]
} | {
"id": "C1270972",
"name": "Mild cognitive disorder",
"pos": [
117,
25
]
} |
The chapter describes the epidemiology of cerebrovascular diseases, anatomy of the cerebral blood vessels, pathophysiology of ischemia, hypoxia, hypoxemia, anemic hypoxia, histotoxic hypoxia, carbon monoxide damage, hyperoxid brain damage and decompression sickness, and selective cell and regional vulnerability; diseases of the blood vessels including atherosclerosis, hypertensive angiopathy, small vessel disease, inflammatory vascular diseases, cerebral amyloid angiopathies, CADASIL, CARASIL and other diseases that can lead to cerebrovascular occlusion; intracranial and intraspinal aneurysms and vascular malformations; hematologic disorders that can cause cerebral infarct or hemorrhage; brain ischemic damage; and spontaneous intracranial bleeding. | biomarker | {
"id": 4854,
"name": "NOTCH3",
"pos": [
481,
7
]
} | {
"id": "C0596298",
"name": "Cerebrovascular Occlusion",
"pos": [
534,
25
]
} |
We used a murine model for TDI-induced asthma to examine the effect of doxycycline or MMP inhibitors on bronchial inflammation and airway hyperresponsiveness. | NA | {
"id": 100038246,
"name": "TLX1NB",
"pos": [
27,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
114,
12
]
} |
We tested gene-environment interactions in 7610 women who developed breast cancer and 10 196 controls without the disease, studying the effects of 12 polymorphisms (FGFR2-rs2981582, TNRC9-rs3803662, 2q35-rs13387042, MAP3K1-rs889312, 8q24-rs13281615, 2p-rs4666451, 5p12-rs981782, CASP8-rs1045485, LSP1-rs3817198, 5q-rs30099, TGFB1-rs1982073, and ATM-rs1800054) in relation to prospectively collected information about ten established environmental risk factors (age at menarche, parity, age at first birth, breastfeeding, menopausal status, age at menopause, use of hormone replacement therapy, body-mass index, height, and alcohol consumption). | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
324,
5
]
} | {
"id": "C1314691",
"name": "Age at menarche",
"pos": [
461,
15
]
} |
Addition of OPN neutralizing antibody to Nf1+/- OBCM diminished the gain in bioactivity on OCL functions, including OCL migration and bone resorption. | NA | {
"id": 6696,
"name": "SPP1",
"pos": [
12,
3
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
134,
15
]
} |
Finally, we observed modulation of genes involved in cell growth inhibition (CGREF1, PA2G4, and PPP2R1B), increased apoptosis (FAS, TNFSF10, and BASP1), and reduced adhesion at the dermal epidermal junction (PLEC1, ITGB4, and LAMA5). | NA | {
"id": 3691,
"name": "ITGB4",
"pos": [
215,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
165,
8
]
} |
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and is caused by mutations in PKD1 or PKD2 genes. | genomic_alterations | {
"id": 5310,
"name": "PKD1",
"pos": [
206,
4
]
} | {
"id": "C0010709",
"name": "Cyst",
"pos": [
155,
5
]
} |
Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. | genomic_alterations | {
"id": 2629,
"name": "GBA",
"pos": [
136,
3
]
} | {
"id": "C0242422",
"name": "Parkinsonian Disorders",
"pos": [
171,
12
]
} |
This study provides no evidence that in patients with cerebrovascular disease, knowledge of ACE genotype is useful for predicting either the risk of disease or the benefits of perindopril-based blood pressure-lowering treatment. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
92,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
194,
14
]
} |
DNA samples from Japanese patients with MAP dependence/psychosis were analyzed to find polymorphisms in OPRD1 gene exons and exon-intron boundaries. | NA | {
"id": 4985,
"name": "OPRD1",
"pos": [
105,
10
]
} | {
"id": "C0033975",
"name": "Psychotic Disorders",
"pos": [
56,
9
]
} |
To investigate the roles of inflammation and a cholesteryl ester transfer protein (CETP) polymorphism potentially related to recent findings demonstrating coronary risk with increasing high-density lipoprotein cholesterol (HDL-C) level. | NA | {
"id": 1071,
"name": "CETP",
"pos": [
83,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
28,
12
]
} |
Point mutations in the coding region of the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) or connexin 32 (Cx32) have been reported in CMT patients, including CMT type 1 (CMT1), CMT type 2 (CMT2) and Déjérine-Sottas neuropathy (DS) patients, and only in the coding region of PMP22 in HNPP families lacking a deletion. | genomic_alterations | {
"id": 8731,
"name": "RNMT",
"pos": [
202,
4
]
} | {
"id": "C0011195",
"name": "Dejerine-Sottas Disease (disorder)",
"pos": [
231,
26
]
} |
There appeared to be an impact of BCL2 -938A/A genotype on tumor differentiation and smoking. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
34,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
85,
7
]
} |
IQGAP1 has been reported to encode a ras GAP-related protein, and its interaction with cadherin and/or beta-catenin induces a dissociation of beta-catenin from the cadherin-catenin complex, one of the mechanisms for cell-cell adhesion. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
142,
12
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
126,
12
]
} |
Neuropsychiatric, dysautonomic and sleep disturbances occur as frequently in patients with LRRK2-G2019S-PD as in IPD but smell loss was less frequent in LRRK2-PD. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
91,
5
]
} | {
"id": "C0851578",
"name": "Sleep Disorders",
"pos": [
35,
18
]
} |
PCNA indexes were found 29.3 +/- 9.6 in normal histopathologic group, 31.8 +/- 13.4 in basal cell hyperplasia-esophagitis, and 41.7 +/- 6.5 in dysplasia group (P > 0.05). | NA | {
"id": 5111,
"name": "PCNA",
"pos": [
0,
4
]
} | {
"id": "C0014868",
"name": "Esophagitis",
"pos": [
110,
11
]
} |
To evaluate the physiological role of dissociation of CrkII from EGFR, we expressed the CrkII-23 mutant in glioma cells. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
65,
4
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
38,
12
]
} |
Electrophoretic mobility shift assays and morphological transduction studies revealed PAR2-induced activation and translocation of nuclear factor kappa B (NF-kappaB) in primary human KTC with a maximum after 1 h. Supershift analysis demonstrated acivation of the p50/p65 heterodimer complex. | NA | {
"id": 2150,
"name": "F2RL1",
"pos": [
86,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
114,
13
]
} |
In cells grown under hypoxia for 6 h, BRCA1 was not decreased, but induction of CYP1A1 by TCDD was significantly decreased. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
38,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
21,
7
]
} |
Furthermore, the link of s allele of 5-HTTLPR to emotional impulsivity was mediated by depressive symptoms, particularly perceptions of social rejection. | genomic_alterations | {
"id": 6532,
"name": "SLC6A4",
"pos": [
37,
8
]
} | {
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
87,
19
]
} |
CCL3L1 gene-containing segmental duplications and polymorphisms in CCR5 affect risk of systemic lupus erythaematosus. | genomic_alterations | {
"id": 1234,
"name": "CCR5",
"pos": [
67,
4
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
96,
5
]
} |
We studied 133 Japanese patients with retinal dystrophies to detect peripherin/RDS (retinal degeneration slow) gene defects. | NA | {
"id": 5630,
"name": "PRPH",
"pos": [
68,
10
]
} | {
"id": "C0035304",
"name": "Retinal Degeneration",
"pos": [
84,
20
]
} |
AF10 was originally identified as a fusion partner of MLL in the t(10;11)(p12-p13;q23) observed in myeloid leukemia. | NA | {
"id": 6455,
"name": "SH3GL1",
"pos": [
36,
21
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
99,
16
]
} |
The percentages of CD4+CD25+ Treg were detected as well as in the blood of carcinoma patients and CIN II/III, but the number of cells was much higher compared to both control and CIN I groups (p < 0.01). | NA | {
"id": 3559,
"name": "IL2RA",
"pos": [
23,
4
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
75,
9
]
} |
Autoantibodies have defined two paraneoplastic visual disorders related to small-cell lung carcinoma: retinopathy ("CAR"-IgG [23kDa, recoverin]) and optic neuritis collapsin response-mediated protein 5 (CRMP-5-IgG [62kDa]). | NA | {
"id": 5957,
"name": "RCVRN",
"pos": [
133,
9
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
86,
14
]
} |
Monocytic leukemia with CALM/AF10 rearrangement showing mediastinal emphysema. | genomic_alterations | {
"id": 805,
"name": "CALM2",
"pos": [
24,
4
]
} | {
"id": "C1318544",
"name": "M5b Acute differentiated monocytic leukemia",
"pos": [
0,
18
]
} |
Ablation of NK-1 receptor expressing cells prevented (a) morphine-induced thermal and mechanical hypersensitivity, (b) increased touch-evoked spinal FOS expression, (c) upregulation of spinal dynorphin content and (d) the rightward displacement of the spinal morphine antinociceptive dose-response curve (i.e., tolerance). | NA | {
"id": 2353,
"name": "FOS",
"pos": [
149,
3
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
97,
16
]
} |
The changes in expression of seven transcripts, WDR35, FLF45244, DHCR24, TIGD7, TOPBP1, TSHZ1, and FAM8A1 were strongly correlated with the changes in body weight, fasting plasma glucose and glycosylated hemoglobin content. | NA | {
"id": 11073,
"name": "TOPBP1",
"pos": [
80,
6
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
204,
10
]
} |
We have quantified mRNA for the hepatocyte growth factor and its putative receptor the c-met proto-oncogene protein product, in a series of human primary and secondary liver tumours and adjacent non-neoplastic liver. | NA | {
"id": 3082,
"name": "HGF",
"pos": [
32,
24
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
195,
14
]
} |
A combination of ADC and TSA resulted in synergistic effects in inducing PR expression, down-regulation of DNMT1 and DNMT3A, and could also have antigrowth effect on endometrial cancer cells by inducing apoptosis. | NA | {
"id": 7001,
"name": "PRDX2",
"pos": [
25,
3
]
} | {
"id": "C0476089",
"name": "Endometrial Carcinoma",
"pos": [
166,
18
]
} |
Somatic deletion of Palb2 driven by K14-Cre led to mammary tumor formation with long latency. | NA | {
"id": 79728,
"name": "PALB2",
"pos": [
20,
5
]
} | {
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
51,
13
]
} |
Many missense mutations in the RET proto-oncogene were found in familial and sporadic cases of Hirschsprung disease (HSCR). | NA | {
"id": 5979,
"name": "RET",
"pos": [
31,
18
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
77,
8
]
} |
In this report, we studied the expression of three molecules that have been shown to mediate adenoviral entry into cells, i.e., coxsackie and adenovirus receptor (CAR), integrin alphavbeta3 (INT), and major histocompatibility complex class I (MHCI), in rodent glioma cell lines and low-passage primary cultures and cell lines from human GBM. | biomarker | {
"id": 3685,
"name": "ITGAV",
"pos": [
169,
20
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
260,
6
]
} |
These results indicate that NEK2 contributes to drug resistance in ovarian cancer and it may be an important therapeutic target. | biomarker | {
"id": 4751,
"name": "NEK2",
"pos": [
28,
4
]
} | {
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
67,
14
]
} |
We found that EMMPRIN-2 promoted head and neck cancer cell invasion, migration, and adhesion in vitro and increased lung metastasis in vivo. | NA | {
"id": 682,
"name": "BSG",
"pos": [
14,
7
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
84,
8
]
} |
This article is to evaluate the association of CT features between the wild type and the subtype (exon 19 and 21) of EGFR mutations in patients with lung adenocarcinoma. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
117,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
149,
19
]
} |
In our study of acute lymphoblastic leukemia, RSA-RAP gives copy number analysis results that show substantially better concordance with cytogenetics than do two other alignment procedures. | NA | {
"id": 4043,
"name": "LRPAP1",
"pos": [
50,
3
]
} | {
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
16,
28
]
} |
Thus, hsa-miR-26a, CDK4, and CENTG1 comprise a functionally integrated oncomir/oncogene DNA cluster that promotes aggressiveness in human cancers by cooperatively targeting the RB1, PI3K/AKT, and JNK pathways. | NA | {
"id": 116986,
"name": "AGAP2",
"pos": [
29,
6
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
114,
14
]
} |
Identification of promoter region methylation patterns of MGMT, CDKN2A, GSTP1, and THBS1 genes in intracranial meningioma patients. | NA | {
"id": 2950,
"name": "GSTP1",
"pos": [
72,
5
]
} | {
"id": "C0349604",
"name": "Intracranial Meningioma",
"pos": [
98,
23
]
} |
PDAC hyper-O-GlcNAcylation was associated with elevation of OGT and reduction of the enzyme that removes O-GlcNAc (OGA). | biomarker | {
"id": 10724,
"name": "OGA",
"pos": [
115,
3
]
} | {
"id": "C1832661",
"name": "ANOPHTHALMIA AND PULMONARY HYPOPLASIA",
"pos": [
0,
4
]
} |
Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population. | genomic_alterations | {
"id": 2147,
"name": "F2",
"pos": [
31,
11
]
} | {
"id": "C0524702",
"name": "Pulmonary Thromboembolisms",
"pos": [
121,
25
]
} |
To evaluate the relationship between pituitary size, PIT1 and PROP1 genotype, and the severity of childhood onset growth hormone deficiency (coGHD). | NA | {
"id": 5626,
"name": "PROP1",
"pos": [
62,
5
]
} | {
"id": "C1837352",
"name": "Childhood onset",
"pos": [
98,
15
]
} |
Double-transgenic APP/PS1 mice express altered APP and PS1 mRNAs and proteins, reduced β-secretase 1 (BACE1) mRNA and normal BACE1 protein, all of which suggest a particular mechanism of amyloidogenesis when compared with sporadic AD. | NA | {
"id": 351,
"name": "APP",
"pos": [
47,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
222,
8
]
} |
The cell death-inducing DFFA (DNA fragmentation factor-alpha)-like effector A (CIDEA) gene is implicated as an important regulator of body weight in mice and humans and is therefore a candidate gene for human obesity. | NA | {
"id": 1149,
"name": "CIDEA",
"pos": [
79,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
134,
11
]
} |
CALHM1 P86L polymorphism does not alter amyloid-beta or tau in cerebrospinal fluid. | NA | {
"id": 255022,
"name": "CALHM1",
"pos": [
0,
6
]
} | {
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
40,
7
]
} |
In contrast, PRAS40 KO increased infarction size. | NA | {
"id": 84335,
"name": "AKT1S1",
"pos": [
13,
6
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
33,
10
]
} |
Recently, the KATP gene ABCC9 (SUR2, NM_020297) has been associated with the multi-organ disorder Cantú syndrome or hypertrichotic osteochondrodysplasia (MIM 239850) (hypertrichosis, macrosomia, osteochondrodysplasia, and cardiomegaly). | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
154,
3
]
} | {
"id": "C0018800",
"name": "Cardiomegaly",
"pos": [
222,
12
]
} |
We sequenced all coding exons, and flanking intron regions of HPS1 in 16 patients with mild to severe PDG deficiency, most of whom had mild bleeding episodes. | NA | {
"id": 26227,
"name": "PHGDH",
"pos": [
102,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
135,
4
]
} |
In contrast to KRAS and PIK3CA mutations, BRAF mutations are associated with tumours harbouring CpG Island methylation phenotype (CIMP), MLH1 methylation and microsatellite instability (MSI). | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
24,
6
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
158,
26
]
} |
1alpha,25(OH)2D(3) induced the expression of E-cadherin and other adhesion proteins (occludin, Zonula occludens [ZO]-1, ZO-2, vinculin) and promoted the translocation of beta-catenin, plakoglobin, and ZO-1 from the nucleus to the plasma membrane. | NA | {
"id": 9414,
"name": "TJP2",
"pos": [
120,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
153,
13
]
} |
We report, for the first time, the occurrence of a SETBP1 mutation in two cases, as well as changes in G-CSF and IL-6 in SETBP1 wild type vs. mutated patients that are supportive of a hypothesis that neutrophilia associated with plasma cell neoplasms may sometimes be reactive and may sometimes represent a second clonal entity. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
113,
4
]
} | {
"id": "C0151683",
"name": "Neutrophilia (finding)",
"pos": [
200,
12
]
} |
Our results reveal new mechanism-based therapeutic approaches for PCa by targeting PARP and the DDR pathway involving c-Myb, TopBP1, ataxia telangiectasia mutated- and Rad3-related (ATR), and Chk1. | NA | {
"id": 1111,
"name": "CHEK1",
"pos": [
192,
4
]
} | {
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
140,
14
]
} |
The discovery of activating mutations in JAK2 and MPL in a majority of patients with myeloproliferative neoplasms (MPN) has led to the rapid clinical development of several JAK kinase inhibitors. | genomic_alterations | {
"id": 4352,
"name": "MPL",
"pos": [
50,
3
]
} | {
"id": "C1292778",
"name": "Chronic myeloproliferative disorder",
"pos": [
115,
3
]
} |
In particular, finding a specific reduction of cntf expression in CMT1A Schwann cells suggests that overexpression of pmp22 significantly affects the ability of Schwann cells to offer a trophic support to the axon, which could be a factor, among other, responsible for the development of axonal atrophy in human and experimental CMT1A. | NA | {
"id": 5376,
"name": "PMP22",
"pos": [
118,
5
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
295,
7
]
} |
We then screened a total of 75 SBRCTs lacking EWSR1, FUS, SYT, CIC, and BCOR-CCNB3 abnormalities for BCOR break-apart probes by fluorescence in situ hybridization to detect potential recurrent BCOR gene rearrangements outside the typical X-chromosomal inversion. | NA | {
"id": 2130,
"name": "EWSR1",
"pos": [
46,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
83,
13
]
} |
Cytogenetic analysis and multi-color FISH analysis revealed a novel cryptic three-way translocation t(2;11;5)(p21.3;q13.5;q23.2). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
37,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
86,
13
]
} |
Genotype and allele frequencies of the FGF2 754C/C polymorphism were significantly different in both EM and adenomyosis cases versus control groups. | NA | {
"id": 2258,
"name": "FGF13",
"pos": [
39,
4
]
} | {
"id": "C0341858",
"name": "Endometriosis of uterus",
"pos": [
108,
11
]
} |
E6AP exists as part of several different protein complexes, including the proteasome and an independent high-molecular-weight complex containing HERC2, NEURL4, and MAPK6. | NA | {
"id": 8924,
"name": "HERC2",
"pos": [
145,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
119,
6
]
} |
Localized overexpression of FGF-2 and BDNF in hippocampus reduces mossy fiber sprouting and spontaneous seizures up to 4 weeks after pilocarpine-induced status epilepticus. | therapeutic | {
"id": 2247,
"name": "FGF2",
"pos": [
28,
4
]
} | {
"id": "C0149958",
"name": "Complex partial seizures",
"pos": [
104,
8
]
} |
Our findings showed high frequencies of infertile men (73.85%) and controls (78.26%) having only three DAZ gene copies (DAZ1/DAZ2/DAZ3 or DAZ1/DAZ3/DAZ4 variants); so deletion of DAZ2 or DAZ4 were frequent both in infertile (36.5% and 37.3%, respectively) and fertile groups (33.9% and 44.3%, respectively) and removing DAZ4 copy was significantly more frequent in oligospermic than in normospermic men (p=0.04) in infertile group. | NA | {
"id": 57054,
"name": "DAZ3",
"pos": [
143,
4
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
415,
9
]
} |
The potential role of specific amino acid substitutions in the S protein from OBI in HBsAg production and excretion was examined in vitro. | genomic_alterations | {
"id": 7448,
"name": "VTN",
"pos": [
63,
9
]
} | {
"id": "C0019163",
"name": "Hepatitis B",
"pos": [
78,
3
]
} |
We previously reported that platinum (nPt) and palladium (nPd) nanoparticle-containing mixture (PAPLAL) has both superoxide dismutase and catalase activities and that the topical application of PAPLAL improved skin atrophy induced by chronic oxidative damage in an ageing mouse model. | biomarker | {
"id": 847,
"name": "CAT",
"pos": [
138,
8
]
} | {
"id": "C0151514",
"name": "Atrophic condition of skin",
"pos": [
210,
12
]
} |
From interactome analysis, and with the reported role in respiratory mechanisms, SRC emerges as a promising drug target for asthma. | NA | {
"id": 6714,
"name": "SRC",
"pos": [
81,
3
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
124,
6
]
} |
These findings demonstrate that andrographolide suppresses the adhesion of gastric cancer cells which express high level sialyl Lewis(X) to human vascular endothelial cells by blocking E-selectin expression and, thus, may represent a candidate therapeutic agent for cancer. | NA | {
"id": 6401,
"name": "SELE",
"pos": [
185,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
63,
8
]
} |
Four SNPs (GPX3 rs2070593, rsGPX4 rs2074451, SELS rs9874, and TXNRD1 rs17202060) significantly interacted with dietary oxidative balance score after adjustment for multiple comparisons to alter breast cancer risk. | genomic_alterations | {
"id": 55829,
"name": "SELENOS",
"pos": [
45,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
194,
13
]
} |
hTERT knockdown increased Bax translocation into the mitochondria and cytochrome C release into the cytosol. | NA | {
"id": 54205,
"name": "CYCS",
"pos": [
70,
12
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
30,
13
]
} |
A comprehensive statistical analysis suggested the set of 19 gene markers, ANKRD28, BHLHE40, CGGBP1, RBSP3, EPHB1, FGD5, FOXP1, GORASP1/TTC21, IQSEC1, ITGA9, LOC285375, LRRC3B, LRRN1, MITF, NKIRAS1/RPL15, TRH, UBE2E2, VHL, WNT7A, to allow early detection, tumor progression, metastases and to discriminate between SCC and ADC with sensitivity and specificity of 80-100%. | NA | {
"id": 10217,
"name": "CTDSPL",
"pos": [
101,
5
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
275,
10
]
} |
Another miRNA, mmu-miR-1206, is close to a cluster of variant translocation breakpoints associated with mouse plasmacytoma and exon 1 of mouse Pvt1. | NA | {
"id": 5820,
"name": "PVT1",
"pos": [
143,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
62,
13
]
} |
Expression of IGF-R1, glycolysis-related proteins (GLUT-1, HK 2, PFK-1, LDHA, TKTL1), mitochondrial enzymes (SDHA, SDHB, ATP synthase) were analyzed in normal oral mucosa (n = 5), oral precursor lesions (simple hyperplasia, n = 11; squamous intraepithelial neoplasia, SIN I-III, n = 35), and OSCC specimen (n = 42) by immunohistochemistry and real-time polymerase chain reaction (qPCR) analysis in OSCC cell lines. | NA | {
"id": 8277,
"name": "TKTL1",
"pos": [
78,
5
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
211,
11
]
} |
In previous human association studies the results have been contradictory regarding the association between a CASQ1 rs2275703 polymorphism and type 2 diabetes. | genomic_alterations | {
"id": 844,
"name": "CASQ1",
"pos": [
110,
5
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
143,
15
]
} |
RESULTS: ITGB3 and BCL-2 increased significantly in A549 cells in CAFs group withβ-actin as control; the expression level of BCL-2 also increased in ITGB3 transfected cells with GFP plasmid transfected A549 cells as control; immunohistochemistry staining showed that positive rates of ITGB3, ITGB1 and BCL-2 in normal lung tissues were 0, the positive rates in lung adenocarcinoma were 7.04%, 84.51% and 4.23%, respectively; in the results of immunohistochemistry staining, the expression of Girdin protein in lung adenocarcinoma was homogeneous, however protein expression of ITGB3, ITGB1 and BCL-2 showed different patterns in the same location with significant heterogeneity; majority of ITGB3, ITGB1 or BCL-2 positive tissue showed heterogeneity that expression in trailing edge was higher than that of trailing edge in lung adenocarcinoma tissue, the patients with BCL-2 heterogeneity showed higher lymph node metastasis ratio and lower clinical stage (P<0.05); and the expression of ITGB3 and the clinical characteristics of patients were not significant related (P>0.05). | NA | {
"id": 3690,
"name": "ITGB3",
"pos": [
989,
5
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
824,
19
]
} |
Downregulation of sEH by siRNA decreased SMC proliferation and migration, and suppressed inflammation and macrophage adhesion to SMC. | NA | {
"id": 54808,
"name": "DYM",
"pos": [
129,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
89,
12
]
} |
For example, COL4A3-5 genes, which are classically associated with Alport syndrome, are now understood to also be involved in the aetiology of focal segmental glomerulosclerosis. | genomic_alterations | {
"id": 1285,
"name": "COL4A3",
"pos": [
13,
6
]
} | {
"id": "C0017668",
"name": "Focal glomerulosclerosis",
"pos": [
143,
34
]
} |
Median neonatal viral load at recruitment was 471,932 copies/ml and median CD4 was 777 cells/mm3. | NA | {
"id": 920,
"name": "CD4",
"pos": [
75,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
16,
10
]
} |
Retrospectively included 282 patients who was pathologically proved as lung adenocarcinoma with known EGFR mutation status (mutations: 138 patients, female: 86, median age: 66 years; wildtype: 144 patients, female: 67, median age: 62 years) and their pre-treatment CT scans were analyzed. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
102,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
71,
19
]
} |
The expression of p53 and FHIT in specimens from patients with previously untreated advanced squamous cell carcinoma of the oropharynx was determined by immunohistochemistry. | NA | {
"id": 2272,
"name": "FHIT",
"pos": [
26,
4
]
} | {
"id": "C4725662",
"name": "Advanced Squamous Cell Carcinoma of the Oropharynx",
"pos": [
84,
50
]
} |
There is an association of the mutant type group A358C and A358A of FAAH with a worse cardiovascular profile (weight, body mass index, waist circumference, insulin,TNF-alpha and adiponectin levels) than wild type group. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
164,
9
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
118,
15
]
} |
Tumor and normal tissue DNA samples were obtained from 40 patients with early-onset (< 50 y) gastric carcinomas and assayed for APC and CTNNB1 mutations, microsatellite instability, and methylation of the promoters of the hMLH1, TIMP3, THBS1, DAP- K, GSTP1 , APC, and MINT2. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
136,
6
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
154,
26
]
} |
I-FISH analyses with an alpha-satellite probe specific for chromosome 8 of 26 desmoids, including one tumor that by karyotyping had +i(8)(q10), showed no evident abnormalities. | NA | {
"id": 27161,
"name": "AGO2",
"pos": [
138,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
162,
13
]
} |
Those results further accentuate the interest to develop small molecules acting like TAT-2ASCV in order to treat neuropathic pain as a monotherapy or in combination with antidepressants. | biomarker | {
"id": 6898,
"name": "TAT",
"pos": [
85,
3
]
} | {
"id": "C0027796",
"name": "Neuralgia",
"pos": [
113,
16
]
} |
In multivariate analysis taking account of age, tumor stage, anaplasia, and common CA (e.g., 1p loss and 16q loss), 1q gain was independently associated with adverse event-free survival [EFS; hazard ratio (HR) = 2.45, P = 0.02] and overall survival (HR = 4.28, P = 0.004). | biomarker | {
"id": 10278,
"name": "EFS",
"pos": [
187,
3
]
} | {
"id": "C0008626",
"name": "Congenital chromosomal disease",
"pos": [
83,
2
]
} |
We found that both the fast (*2/*2) and the slow (*1/*1+ *1/*2) ADH1B genotypes increased the risk of HNC due to alcohol consumption, and this association differed according to the slow/non-functional ALDH2 genotypes (*1/*2+ *2/*2) or poor oral hygiene. | genomic_alterations | {
"id": 8928,
"name": "FOXH1",
"pos": [
23,
8
]
} | {
"id": "C3887461",
"name": "Head and Neck Carcinoma",
"pos": [
102,
3
]
} |
DCPIP (2,6-dichlorophenolindophenol) as a genotype-directed redox chemotherapeutic targeting NQO1*2 breast carcinoma. | therapeutic | {
"id": 1728,
"name": "NQO1",
"pos": [
87,
4
]
} | {
"id": "C0027659",
"name": "Neoplasms, Experimental",
"pos": [
42,
8
]
} |
The clinical benefit of immunotherapy was supported by convincing evidence in the following settings: anti-PD-1/PD-L1 monoclonal antibody (mAb) therapy for treating advanced melanoma and non-small cell lung cancer (NSCLC), the combination of rituximab and chemotherapy for treating chronic lymphocytic leukemia and B-cell non-Hodgkin's lymphoma, adoptive cell immunotherapy for NSCLC, and the combination of interferon α and chemotherapy for metastatic melanoma. | biomarker | {
"id": 29126,
"name": "CD274",
"pos": [
112,
5
]
} | {
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
442,
19
]
} |
In the present study of normal subjects with nonfatty livers and patients with steatosis, diabetic cirrhosis, and alcoholic cirrhosis, we sought to determine SULT1A1, SULT2A1, SULT1E1, and SULT1A3 activity and mRNA and protein expression in human liver tissue. | NA | {
"id": 6818,
"name": "SULT1A3",
"pos": [
189,
7
]
} | {
"id": "C0023891",
"name": "Liver Cirrhosis, Alcoholic",
"pos": [
114,
19
]
} |
To determine whether preimplantation genetic diagnosis (PGD) and transfer of euploid embryos would decrease spontaneous abortion rates in recurrent miscarriage (RM) patients. | NA | {
"id": 5226,
"name": "PGD",
"pos": [
56,
3
]
} | {
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
108,
20
]
} |
We investigated the relationship between the resistance to the proapoptotic action of tumor necrosis factor-related apoptosis inducing ligand (TRAIL) and cellular prion protein (PrPc) function, using the TRAIL-sensitive MCF-7 human breast adenocarcinoma cell line and two TRAIL-resistant sublines: 2101 and MCF-7/ADR. | NA | {
"id": 5621,
"name": "PRNP",
"pos": [
163,
13
]
} | {
"id": "C0858252",
"name": "Breast adenocarcinoma",
"pos": [
232,
21
]
} |
Increased radioresistance to X-rays as well as carbon ions was observed in glioblastoma cells exhibiting high levels of naturally occurring chromosomal instability and impaired Ataxia-telangiectasia mutated (ATM) signaling, as reflected by lack of phosphorylation of ATM, CHK2 and p53 after double-strand breaks induction. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
281,
3
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
140,
23
]
} |
This study aimed to determine whether the Trp64Arg mutation in the beta3-adrenergic receptor beta3-adr) gene is related to childhood obesity and the response to dietary intervention for obesity. | genomic_alterations | {
"id": 231,
"name": "AKR1B1",
"pos": [
99,
3
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
186,
7
]
} |
FOXQ1 was highly expressed in esophageal cancerous tissues compared with adjacent non-cancerous tissues. | NA | {
"id": 94234,
"name": "FOXQ1",
"pos": [
0,
5
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
30,
10
]
} |
We propose that aberrant interactions of UCH-L1 variants with CMA machinery, at least partly, underlie the pathogenesis of I93M UCH-L1-associated PD, and possibly of sporadic PD. | NA | {
"id": 7345,
"name": "UCHL1",
"pos": [
128,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
166,
8
]
} |
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