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The prevalence of (AT)n repeats of the CTLA4 gene carrying long alleles (≥116 bp) was more common in UC patients than in healthy controls (22.0 vs 6.3%, P<0.001, OR=4.21, 95% CI: 2.79-6.33), and was associated with extensive colitis (P=0.008). | genomic_alterations | {
"id": 1493,
"name": "CTLA4",
"pos": [
39,
5
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
228,
7
]
} |
This study investigated the effect and clinical significance of beta2-GPI in hepatocellular carcinoma (HCC). | NA | {
"id": 4760,
"name": "NEUROD1",
"pos": [
64,
5
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
77,
24
]
} |
Chondrogenic differentiation was accompanied by an upregulation of cartilage-specific col2a1 and sox9, whereas osteocalcin and the metastasis marker osteopontin were upregulated during osteogenic differentiation. | NA | {
"id": 1280,
"name": "COL2A1",
"pos": [
86,
6
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
131,
10
]
} |
Among participants with the ALDH2*1/*2 genotype, those with the ADH1B*2/*2 genotype were more likely to experience alcohol-induced vomiting and to report feeling less "great overall" 30 minutes after ingestion of alcohol than those with the ADH1B*1/*2 genotype. | NA | {
"id": 217,
"name": "ALDH2",
"pos": [
28,
5
]
} | {
"id": "C0042963",
"name": "Vomiting",
"pos": [
131,
8
]
} |
Gain of MYC underlies recurrent trisomy of the MYC chromosome in acute promyelocytic leukemia. | NA | {
"id": 4609,
"name": "MYC",
"pos": [
47,
3
]
} | {
"id": "C0041107",
"name": "Trisomy",
"pos": [
32,
7
]
} |
The clinical and neuropathological abnormalities associated with mutations in the TIMM8a gene support that this X-linked deafness-dystonia-optic neuropathy syndrome is an example of progressive neurodegeneration due to mutations in a nuclear gene necessary for some, yet unknown mitochondrial transport function. | NA | {
"id": 1678,
"name": "TIMM8A",
"pos": [
82,
11
]
} | {
"id": "C0011053",
"name": "Deafness",
"pos": [
121,
8
]
} |
We therefore compared the prevalence of factor V Leiden, prothrombin G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, and plasminogen activator inhibitor 4G/5G polymorphisms between 50 patients with symptomatic DVT within 3 weeks after elective THA and an asymptomatic control group of 85 patients. | NA | {
"id": 2153,
"name": "F5",
"pos": [
40,
15
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
278,
12
]
} |
These results suggest that the miR-1-NOTCH3-Asef pathway is important for colorectal tumor cell migration and may be a promising molecular target for the treatment of colorectal tumors. | NA | {
"id": 50649,
"name": "ARHGEF4",
"pos": [
44,
4
]
} | {
"id": "C0009404",
"name": "Colorectal Neoplasms",
"pos": [
167,
17
]
} |
The DOR-1 cell line exhibits distinct immuno-cytochemical features and carries the t (9; 17) (p23; p13) translocation suggesting involvement of stromal-like cell lineage in LCH initiation and progression. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
99,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
104,
13
]
} |
TSLP stimulation of these leukemias further induced robust JAK/STAT and PI3K/mTOR pathway signaling. | biomarker | {
"id": 85480,
"name": "TSLP",
"pos": [
0,
4
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
26,
9
]
} |
No second mutational hit was detected in the DNA of the secondary chondrosarcoma from a patient who carried a nonsense EXT1 mutation. | genomic_alterations | {
"id": 2131,
"name": "EXT1",
"pos": [
119,
4
]
} | {
"id": "C1335938",
"name": "Secondary Chondrosarcoma",
"pos": [
56,
24
]
} |
The study was designed to investigate the relationships between IL-5 messenger RNA expression in circulating CD4+ cells and serum concentrations of eosinophil cationic protein (ECP), a marker of eosinophil activation, and disease activity in asthma. | NA | {
"id": 920,
"name": "CD4",
"pos": [
109,
3
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
242,
6
]
} |
Herein, we report the constitutive expression of the transmembrane CD160 (CD160-TM) activating receptor on non PIGA-mutated PNH patients circulating NK cells. | genomic_alterations | {
"id": 5277,
"name": "PIGA",
"pos": [
111,
4
]
} | {
"id": "C0024790",
"name": "Paroxysmal nocturnal hemoglobinuria",
"pos": [
124,
3
]
} |
We sought to determine whether the allelic variation in seven monogenic bone disease genes (CLCN7, TCIRGI, SOST, CA2, CSTK, TGFB1 and SLC26A2) contributes to osteoporosis/bone mineral density (BMD) variation in the normal Chinese population. | NA | {
"id": 1186,
"name": "CLCN7",
"pos": [
92,
5
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
171,
20
]
} |
In this study, we employed mice with hematopoietic deletions of the Mekk3 gene to evaluate the importance of vasculogenesis in the formation of Ewing's sarcoma tumors. | NA | {
"id": 4215,
"name": "MAP3K3",
"pos": [
68,
5
]
} | {
"id": "C1261473",
"name": "Sarcoma",
"pos": [
152,
7
]
} |
Angiotensin-converting enzyme (ACE) is assumed to influence the activity of the hypothalamic-pituitary-adrenocortical (HPA) system, which shows hyperactivity in the majority of patients with major depression. | NA | {
"id": 10855,
"name": "HPSE",
"pos": [
119,
3
]
} | {
"id": "C0424295",
"name": "Hyperactive behavior",
"pos": [
144,
13
]
} |
We hypothesized that common nsSNPs of BER genes, specifically ADPRT rs1136410, XRCC1 rs25487, rs25489, rs1799782, APEX1 rs1130409, OGG1 rs1052133, LIG3 rs3136025 and MUTYH rs3219466, may contribute to risk of melanoma. | NA | {
"id": 3980,
"name": "LIG3",
"pos": [
147,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
209,
8
]
} |
Specifically, IL-5 mRNA was detected in skin biopsies from five of six tumor-stage CTCL, two of three plaque-stage CTCL, one of three patch-stage CTCL, and 1 of 3 parapsoriasis patients, whereas IL-4 mRNA was demonstrated to be present in five of six tumor-stage, one of three plaque stage, none of three patch-stage CTCL, and none of three parapsoriasis patients. | NA | {
"id": 3567,
"name": "IL5",
"pos": [
14,
4
]
} | {
"id": "C0030491",
"name": "Parapsoriasis",
"pos": [
341,
13
]
} |
While not significantly correlated, the presence of hearing loss, seizures, hoarse voice, childhood onset of obesity and specific behavioral aspects and the absence of immunologic abnormalities and cardiovascular or renal structural anomalies, appeared to be specific for the de novo RAI1 subgroup. | NA | {
"id": 1797,
"name": "DXO",
"pos": [
284,
4
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
66,
8
]
} |
Functional analysis of a mutation in the SLCO1B1 gene (c.1628T>G) identified in a Japanese patient with pravastatin-induced myopathy. | genomic_alterations | {
"id": 10599,
"name": "SLCO1B1",
"pos": [
41,
7
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
127,
8
]
} |
Both lipoma-like and myxoid components of the same MLSLC exhibited the identical FUS-DDIT3, as confirmed by fluorescence in situ hybridization (FISH) and reverse transcription polymerase chain reaction (RT-PCR). | NA | {
"id": 1649,
"name": "DDIT3",
"pos": [
85,
5
]
} | {
"id": "C0023798",
"name": "Lipoma",
"pos": [
5,
6
]
} |
Treating MRD after AHSCT with the differentiation-inducing retinoid 13-cis-retinoic acid significantly /improved EFS of high-risk neuroblastoma patients. | NA | {
"id": 10278,
"name": "EFS",
"pos": [
113,
3
]
} | {
"id": "C4725671",
"name": "High-Risk Neuroblastoma",
"pos": [
120,
23
]
} |
Importantly, overexpression of Nur77, but not DN-Nur77, protected ECs against the TNF-alpha- and interleukin-1beta-induced endothelial activation, as characterized by attenuation in the nuclear factor kappaB activation, expression of adhesion molecules ICAM-1 and VCAM-1, and monocytic adherence to ECs. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
82,
9
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
234,
8
]
} |
In this study, we uncovered that hypoxia could induce the upregulation of Rab11-family interacting protein 4 (Rab11-FIP4) and activation of Rab11-FIP4 promoter by HIF-1α. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
163,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
33,
7
]
} |
HS-ASA has anti-cancer potential against ER- breast cancer and merits further study. | biomarker | {
"id": 410,
"name": "ARSA",
"pos": [
3,
3
]
} | {
"id": "C4733092",
"name": "estrogen receptor-negative breast cancer",
"pos": [
41,
17
]
} |
Five of the loci are known to be associated with other phenotypes: ADCY5 and CDKAL1 with type 2 diabetes, ADRB1 with adult blood pressure and HMGA2 and LCORL with adult height. | NA | {
"id": 8091,
"name": "HMGA2",
"pos": [
142,
5
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
123,
14
]
} |
In mRNA and protein levels, overexpression of aldosterone synthase (P-450aldo) is recognized, although abnormalities and defects of DNA and its upper stream have not been detected. | NA | {
"id": 1585,
"name": "CYP11B2",
"pos": [
46,
20
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
103,
13
]
} |
TFE3 fusion gene product overexpression occurs as consequence of different translocations involving chromosome Xp11.2, whereas TFEB overexpression is the result of the specific translocation t(6;11)(p21;q12), which fuses the Alpha gene to TFEB. | NA | {
"id": 378938,
"name": "MALAT1",
"pos": [
225,
10
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
177,
13
]
} |
Multicolor fluorescent in situ hybridization (FISH) was used to identify acquired chromosomal aberrations in 12 patients with mycosis fungoides or Sézary syndrome, the most common forms of primary cutaneous T-cell lymphoma (CTCL). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
46,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
82,
23
]
} |
Our results showed that BPA-treated rabbits showed insulin resistance, prominent adipose accumulation and hepatic steatosis. | NA | {
"id": 667,
"name": "DST",
"pos": [
24,
3
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
51,
18
]
} |
Leukemia translocation gene, PLZF, is expressed with a speckled nuclear pattern in early hematopoietic progenitors. | NA | {
"id": 7704,
"name": "ZBTB16",
"pos": [
29,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
9,
13
]
} |
To unveil the molecular mechanism of miR-375-mediated phenotype in hepatoma cells described above, we examined the putative targets using bioinformatics tools and found that astrocyte elevated gene-1 (AEG-1) was a potential target of miR-375. | NA | {
"id": 92140,
"name": "MTDH",
"pos": [
201,
5
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
67,
8
]
} |
The enhanced VEGF gene transcription in TAMR-MCF-7 cells was suppressed by amurensin G. Molecular analyses using reporter genes with hypoxia response elements and activator protein-1 (AP-1) elements, and western blots revealed that the activities and the nuclear levels of hypoxia inducible factor-1 (HIF-1)α and AP-1 in TAMR-MCF-7 cells were decreased by amurensin G. Moreover, amurensin G concentration-dependently inhibited protein expression and gene transcription of Pin1 in TAMR-MCF-7 cells, which was dependent on E2F1 inhibition. | NA | {
"id": 23037,
"name": "PDZD2",
"pos": [
472,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
133,
7
]
} |
Furthermore, the plasma BNP level positively correlated with the ratio of heart weight to body weight and the plasma level of ATII. | NA | {
"id": 4879,
"name": "NPPB",
"pos": [
24,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
90,
11
]
} |
Mutations in HOXA13 and HOXD13 are associated with disorders of limb formation such as hand-foot-genital syndrome (HFGS), synpolydactyly (SPD), and brachydactyly. | genomic_alterations | {
"id": 3239,
"name": "HOXD13",
"pos": [
24,
6
]
} | {
"id": "C0221357",
"name": "Brachydactyly",
"pos": [
148,
13
]
} |
SOCS-mediated insulin resistance and neuroprotection in retina were investigated in 1) an experimental uveitis model, 2) SOCS1 transgenic rats, 3) insulin-deficient diabetic rats, 4) retinal cells depleted of SOCS6 or overexpressing SOCS1/SOCS3, and 5) oxidative stress and light-induced retinal degeneration models. | NA | {
"id": 8651,
"name": "SOCS1",
"pos": [
233,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
14,
18
]
} |
Previous studies reported an association of methylenetetrahydrofolate reductase (MTHFR) polymorphisms and recurrent spontaneous abortion, whereas no studies are available for the association with thymidylate synthase enhancer region (TSER) genotypes. | NA | {
"id": 7298,
"name": "TYMS",
"pos": [
196,
20
]
} | {
"id": "C3279439",
"name": "Recurrent spontaneous abortion",
"pos": [
106,
30
]
} |
We propose that FISH to detect these deletions would be an efficient and cost-effective first screening step to identify potential BRCA2-mutation carriers among breast cancer patients without a family history of breast cancer. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
16,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
161,
13
]
} |
Immune suppression in premalignant respiratory papillomas: enriched functional CD4+Foxp3+ regulatory T cells and PD-1/PD-L1/L2 expression. | NA | {
"id": 920,
"name": "CD4",
"pos": [
79,
3
]
} | {
"id": "C0281373",
"name": "Respiratory papilloma",
"pos": [
35,
22
]
} |
The 17p13.3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
63,
3
]
} | {
"id": "C0266463",
"name": "Lissencephaly",
"pos": [
95,
13
]
} |
True ACCs can arise in the prostate as is evidenced by the presence of the characteristic MYB rearrangement. | genomic_alterations | {
"id": 4602,
"name": "MYB",
"pos": [
90,
3
]
} | {
"id": "C0175754",
"name": "Agenesis of corpus callosum",
"pos": [
5,
3
]
} |
To investigate the role of miR-29a in regulation of TAB1-mediated TIMP-1 production in dermal fibroblasts in systemic sclerosis. | biomarker | {
"id": 407021,
"name": "MIR29A",
"pos": [
27,
7
]
} | {
"id": "C0036421",
"name": "Systemic Scleroderma",
"pos": [
109,
18
]
} |
These results support the hypothesis that the GSTM1 null genotype is one of the genetic traits for smoking-related lung cancers, the risk of which, however, appears to be dependent on the extent of tobacco smoke exposure. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
46,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
99,
7
]
} |
SK3 channel was solely expressed in tumor breast biopsies and not in nontumor breast tissues. | NA | {
"id": 3782,
"name": "KCNN3",
"pos": [
0,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
36,
5
]
} |
This study considered dexamethasone suppression test (DST) results, Winokur 's familial subtyping, and the presence or absence of melancholia according to DSM-III criteria as potential predictors of response to ECT. | NA | {
"id": 667,
"name": "DST",
"pos": [
54,
3
]
} | {
"id": "C0025193",
"name": "Melancholia",
"pos": [
130,
11
]
} |
Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father. | genomic_alterations | {
"id": 1910,
"name": "EDNRB",
"pos": [
146,
5
]
} | {
"id": "C0265252",
"name": "Coffin-Lowry syndrome",
"pos": [
27,
21
]
} |
A 3'enhancer is responsible for hypoxia-inducible Epo gene expression. | NA | {
"id": 2056,
"name": "EPO",
"pos": [
50,
8
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
32,
7
]
} |
GPR56 (also known as TM7XN1) is a newly discovered orphan G-protein-coupled receptor (GPCR) of the secretin family that has a role in the development of neural progenitor cells and has been linked to developmental malformations of the human brain. | biomarker | {
"id": 6343,
"name": "SCT",
"pos": [
99,
8
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
200,
27
]
} |
HER2 ECD-positive MBC patients slightly increased their sFASN levels compared with HER2 ECD-negative MBC patients. sFASN-positive MBC patients had significantly increased levels of HER2 ECD when compared with sFASN-negative MBC patients (mean HER2 ECD=34 ng/ml, 95% CI 26-41 ng/ml and 18 ng/ml -95% CI 15-21 ng/ml, respectively; p=0.002). | genomic_alterations | {
"id": 2064,
"name": "ERBB2",
"pos": [
243,
4
]
} | {
"id": "C0278488",
"name": "Carcinoma breast stage IV",
"pos": [
224,
3
]
} |
Autosomal dominant hypocalcemia (ADH) can result from heterozygous missense activating mutations of the calcium-sensing receptor (CaSR) gene, a G-protein-coupled receptor playing key roles in mineral ion metabolism. | genomic_alterations | {
"id": 2866,
"name": "GPR42",
"pos": [
144,
26
]
} | {
"id": "C4048195",
"name": "Autosomal dominant hypocalcemia",
"pos": [
0,
31
]
} |
PTCH1 gene mutations cause naevoid BCC syndrome, and contribute to the development of sporadic BCC and other types of cancers. | NA | {
"id": 5727,
"name": "PTCH1",
"pos": [
0,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
86,
8
]
} |
Results of both gene expression and cross-linked chromatin immunoprecipitation assay analyses identified transcriptional activators of hypertrophy, myocyte enhancer family, Gata4, and Tbx proteins as Rel gene targets. | NA | {
"id": 2626,
"name": "GATA4",
"pos": [
173,
5
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
135,
11
]
} |
Alteration of Jhdm1b level affects Ras-induced neoplastic transformation. | NA | {
"id": 84678,
"name": "KDM2B",
"pos": [
14,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
47,
25
]
} |
These results suggest that miR-1275 could play a future role in the management of obesity, as a novel therapeutic target or biomarker. | biomarker | {
"id": 100302123,
"name": "MIR1275",
"pos": [
27,
8
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
82,
7
]
} |
Subsequently, a robust induction of SOCS-3 occurred in pyramidal and granule neurons, peaking at approximately 24 h. SOCS-2 displayed a relatively higher level of basal expression, particularly in CA3, and a mild and transient downregulation by 24 h. These findings corroborate the hypothesis that seizure-induced gp130 cytokines play a direct neuromodulatory role in the hippocampus. | NA | {
"id": 9021,
"name": "SOCS3",
"pos": [
36,
6
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
208,
4
]
} |
Cost Effectiveness of the Angiotensin Receptor Neprilysin Inhibitor Sacubitril/Valsartan for Patients with Chronic Heart Failure and Reduced Ejection Fraction in the Netherlands: A Country Adaptation Analysis Under the Former and Current Dutch Pharmacoeconomic Guidelines. | biomarker | {
"id": 4311,
"name": "MME",
"pos": [
47,
10
]
} | {
"id": "C0264716",
"name": "Chronic heart failure",
"pos": [
107,
21
]
} |
In summary, we found evidence that the-putative functional-Thr79Met substitution of FABP6 confers a protective effect on type 2 diabetes in obese individuals. | NA | {
"id": 2172,
"name": "FABP6",
"pos": [
84,
5
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
140,
5
]
} |
We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome) and SAMD9 (MIRAGE syndrome), or loss of POLE1; (c) nonclassic forms of STAR and P450scc/CYP11A1 insufficiency that present with a delayed-onset adrenal phenotype and represent a surprisingly prevalent cause of undiagnosed PAI; and (d) a new sphingolipidosis causing PAI due to defects in sphingosine-1-phosphate lyase-1 (SGPL1). | genomic_alterations | {
"id": 1028,
"name": "CDKN1C",
"pos": [
245,
6
]
} | {
"id": "C0037899",
"name": "Sphingolipidoses",
"pos": [
510,
16
]
} |
The goal is to study BMD, joint function, and osteoarthritis score in previously untreated IGHD adults harboring the c.57+1G>A GHRHR mutation. | NA | {
"id": 2692,
"name": "GHRHR",
"pos": [
127,
5
]
} | {
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
46,
14
]
} |
In addition, treatment of cells with LY294002, an inhibitor of PI 3-kinase, or mutations of the PX domain reduces tyrosine phosphorylation and membrane translocation of Tks4. | NA | {
"id": 285590,
"name": "SH3PXD2B",
"pos": [
169,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
152,
13
]
} |
In this review, we discuss the role of Rab27 GTPases in cancer progression and the potential applications of these targets in cancer treatment. | biomarker | {
"id": 5873,
"name": "RAB27A",
"pos": [
39,
5
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
56,
18
]
} |
ras mutation and expression of the ras-regulated genes osteopontin and cathepsin L in human esophageal cancer. | biomarker | {
"id": 1514,
"name": "CTSL",
"pos": [
71,
11
]
} | {
"id": "C0152018",
"name": "Esophageal carcinoma",
"pos": [
92,
17
]
} |
A significant biological interaction was observed between GSTT1 and smoking (AP = 0.48; 95% CI: 0.001-0.815), with an OR of 3.13 (95% CI: 1.69-5.82), and borderline significant interaction was observed for SULT1A1 and smoking (AP = 0.36; 95% CI: -0.021-0.747), with an OR of 3.05 (95% CI: 1.73-5.40). | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
58,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
218,
7
]
} |
This research was to observe the mechanisms responsible for inactivation of T-cadherin gene in colon carcinoma; we investigated the methylation status around the 5' promoter region of T-cadherin gene of Hct116 colon cancer cell line by methylation-specific polymerase chain reaction (MSP), also detected the expression change of T-cadherin mRNA and protein in Hct116 cell line after 5-Aza-CdR treatment by reverse transcriptase polymerase chain reaction and Western blotting, and compared the T-cadherin methylation status with T-cadherin mRNA and protein expression. | NA | {
"id": 89782,
"name": "LMLN",
"pos": [
285,
3
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
211,
12
]
} |
Changes in the expression of Dcn, Igf-1r, and Rod1 were found in the spinal cord of asymptomatic animals, suggesting these changes occur before overt neuronal degeneration and potentially influence astrocyte-motor neuron interaction in the course of the disease. | NA | {
"id": 9991,
"name": "PTBP3",
"pos": [
46,
4
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
84,
12
]
} |
Ubiquitin-conjugating enzyme E2 N (UBE2N), also known as Ubc13, is an E2 ubiquitin-conjugating enzyme that promotes formation of monomeric p53 that results in its cytoplasmic translocation and subsequent loss of function. | NA | {
"id": 7334,
"name": "UBE2N",
"pos": [
57,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
175,
13
]
} |
Systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), low density lipoprotein (LDL), high-density lipoprotein (HDL), high-sensitivity C-reactive protein (hs-CRP), left atrial diameter (LA DIA), left ventricular diameter (LV DIA) and other parameters were recorded in EH group. | NA | {
"id": 1628,
"name": "DBP",
"pos": [
57,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
31,
24
]
} |
Furthermore, overexpression of RAG1 and RAG2 accelerated lymphoma development in a transplant model, with RAG1/2-expressing tumors exhibiting hallmarks of genomic instability. | NA | {
"id": 5897,
"name": "RAG2",
"pos": [
40,
4
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
155,
19
]
} |
In animal models, defects of the aP2 gene (aP2(-/-)) partially protected against the development of obesity-related insulin resistance, dyslipidemia, and atherosclerosis. | genomic_alterations | {
"id": 2971,
"name": "GTF3A",
"pos": [
33,
3
]
} | {
"id": "C0003850",
"name": "Arteriosclerosis",
"pos": [
154,
15
]
} |
Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing. | NA | {
"id": 6683,
"name": "SPAST",
"pos": [
57,
7
]
} | {
"id": "C1837496",
"name": "Axonal degeneration",
"pos": [
8,
19
]
} |
It was reported that adenylyl cyclase-5 (AC5) is expressed widely in the brain, with a preferential concentration in the dorsal striatum and nucleus accumbens, brain regions which are important for addiction and emotion. | NA | {
"id": 111,
"name": "ADCY5",
"pos": [
41,
3
]
} | {
"id": "C0085281",
"name": "Addictive Behavior",
"pos": [
198,
9
]
} |
Translocations involving the MLL gene at 11q23 are a frequent finding in therapy-related leukemia and are concentrated within a short, 8.3-kb tract of DNA, the breakpoint cluster region. | genomic_alterations | {
"id": 613,
"name": "BCR",
"pos": [
160,
25
]
} | {
"id": "C2825306",
"name": "Treatment related leukaemia",
"pos": [
73,
24
]
} |
These results suggest that CAPON as well as Dexras1 may be involved in the different pathological conditions including nerve regeneration, neuron loss or survival and even pain process, possibly via regulating the nNOS activity or through the downstream targets of Dexras1. | NA | {
"id": 9722,
"name": "NOS1AP",
"pos": [
27,
5
]
} | {
"id": "C0030193",
"name": "Pain",
"pos": [
172,
4
]
} |
In addition, we assessed plasma levels of pro-inflammatory biomarkers C-reactive protein, interleukin-6, soluble intercellular adhesion molecule-1, fibrinogen and von Willebrand factor in a subset of 214 women included at least six months after delivery. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
70,
18
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
148,
10
]
} |
We observed RhoC mRNA and protein expression to be upregulated in a highly metastatic melanoma cell line (DX3aza), whereas only low expression levels were found in a melanoma cell line with low proliferative and invasive capacity (MeWo). | NA | {
"id": 389,
"name": "RHOC",
"pos": [
12,
4
]
} | {
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
75,
19
]
} |
Our non-fatal case of HSE and other reported cases of herpes infections provide evidence of an increased risk with natalizumab and point to the need for clinicians to maintain awareness. | NA | {
"id": 8630,
"name": "HSD17B6",
"pos": [
22,
3
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
61,
10
]
} |
In this article, we report the cases of three children who (1) had manifested mildly different symptomatic neuropathy (twins, aged 4 years; and a boy, aged 9 years) associated with massive, symmetrical neurofibromas; (2) had few café-au-lait spots with irregular margins and pale brown pigmentation; (3) were presented with, at brain magnetic resonance imaging (MRI), bilateral, NF1-like high-signal abnormalities in the basal ganglia; (4) yielded missense NF1 gene mutations in exon 39; and (5) had unaffected parents with negative NF1 genetic testing as well as discuss 12 families and 20 sporadic and 5 additional cases that presented spinal neurofibromatosis within classical NF1 families (53 cases) that were reported in the literature. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
362,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
400,
13
]
} |
Here, we show that oroxylin A inhibits glycolysis in breast cancer cells via the Sirtuin 3 (SIRT3)-mediated destabilization of hypoxia-inducible factor 1α (HIF1α), which controls glycolytic gene expression. | biomarker | {
"id": 23410,
"name": "SIRT3",
"pos": [
92,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
53,
13
]
} |
This is the first study to our knowledge to demonstrate that biallelic inactivation of KEAP1 is a frequent genetic alteration in NSCLC. | genomic_alterations | {
"id": 9817,
"name": "KEAP1",
"pos": [
87,
5
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
129,
5
]
} |
Here we show that KIAA1199, a deafness gene of unknown function, plays a central role in HA binding and depolymerization that is independent of CD44 and HYAL enzymes. | NA | {
"id": 57214,
"name": "CEMIP",
"pos": [
18,
8
]
} | {
"id": "C0011053",
"name": "Deafness",
"pos": [
30,
8
]
} |
In a logistic regression analysis, Hp1-1 phenotype (p = 0.015, OR: 2.74, 95% CI: 1.22-6.13), Child-Pugh stage (p = 0.038, OR: 1.40, 95% CI: 1.02-1.91) and presence of co-morbidities (p < 0.001, OR: 2.64, 95% CI: 1.63-4.27) were independently associated with infections. | NA | {
"id": 23468,
"name": "CBX5",
"pos": [
35,
3
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
258,
10
]
} |
In the HER2 overexpression type and TNBC, tumor cell proliferation and survival in the hypoxic tumor environment could possibly be due to disinhibition of the mTOR pathway and HIF-1α stabilization by downregulation of REDD1. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
176,
6
]
} | {
"id": "C0424296",
"name": "Social disinhibition",
"pos": [
138,
13
]
} |
An armed oncolytic adenovirus ZD55-IL-24 combined with ADM or DDP demonstrated enhanced antitumor effect in lung cancer. | NA | {
"id": 133,
"name": "ADM",
"pos": [
55,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
19,
10
]
} |
Recently, it was reported that the position-15 (alanine) polymorphism of the alpha1-antichymotrypsin gene (ACT*A) was a risk factor for Alzheimer's disease. | genomic_alterations | {
"id": 345651,
"name": "ACTBL2",
"pos": [
107,
3
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
136,
19
]
} |
The role of CSF2RA and IL3RA haploinsufficiency in linear growth and final adult stature is discussed. | NA | {
"id": 3563,
"name": "IL3RA",
"pos": [
23,
5
]
} | {
"id": "C0005890",
"name": "Body Height",
"pos": [
81,
7
]
} |
Re-expression of GATA4 in human GBM cell lines, primary cultures, and brain tumor-initiating cells suppressed tumor growth in vitro and in vivo through direct activation of the cell cycle inhibitor P21(CIP1), independent of TP53. | NA | {
"id": 2626,
"name": "GATA4",
"pos": [
17,
5
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
70,
11
]
} |
Since adrenomedullin (AM) elicits vasodilatation by binding to specific AM receptors consisted of calcitonin-receptor-like receptor (CRLR)/receptor-activity-modifying protein 2 (RAMP2) or CRLR/receptor-activity-modifying protein 3 (RAMP3) on endothelial cells and stimulating nitric oxide production, AM possibly involves in glomerular capillary dilatation in early phase of diabetic nephropathy. | NA | {
"id": 10268,
"name": "RAMP3",
"pos": [
232,
5
]
} | {
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
375,
20
]
} |
Current findings highlight a potential independent role of depression and inflammatory markers, CRP and OPG in specific, in the pathophysiology of dyslipidemia in psychotic disorders. | biomarker | {
"id": 4982,
"name": "TNFRSF11B",
"pos": [
104,
3
]
} | {
"id": "C0242339",
"name": "Dyslipidemias",
"pos": [
147,
12
]
} |
However, there may be no significant association between CD14 159C/T and atopic and nonatopic asthma risk. | NA | {
"id": 929,
"name": "CD14",
"pos": [
57,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
73,
6
]
} |
Our findings suggest that STC1 tends to correct the inappropriate epithelial-mesenchymal relationships and that STC1 plasmid transfected to MSCs or STC1 inhalation could become promising treatments for IPF. | NA | {
"id": 6781,
"name": "STC1",
"pos": [
148,
4
]
} | {
"id": "C0004048",
"name": "Inspiration function",
"pos": [
153,
10
]
} |
The protein levels of GGH, FAAH, PIR and TAF5L were assessed by immunohistochemistry (IHC) on a panel of 80 primary invasive breast tumors. | biomarker | {
"id": 27097,
"name": "TAF5L",
"pos": [
41,
5
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
125,
13
]
} |
TARDBP mutations have so far been uniquely associated with familial and sporadic ALS. | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
0,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
72,
8
]
} |
In this study, we found that CML CD34+ cells expressed lower level of Spred2 compared with normal hematopoietic progenitor cells, and adenovirus mediated restoration of Spred2 promoted the erythroid differentiation of CML cells. | NA | {
"id": 947,
"name": "CD34",
"pos": [
33,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
134,
10
]
} |
The oncogenic potential of these effector pathways is illustrated by the frequent occurrence of activating mutations in BRAF and PIK3CA as well as loss-of-function mutations in the tumor suppressor PTEN, a negative regulator of PI3K. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
120,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
181,
5
]
} |
To examine the antitumor effect of direct in vivo gene transfer of murine interleukin 12 (IL-12) and B7-1 into tumors, we developed an adenovirus (Ad) vector, AdIL12-B7-1, that encodes the two IL-12 subunits in early region 1 (E1) and the B7-1 gene in E3 under control of the murine cytomegalovirus promoter. | NA | {
"id": 941,
"name": "CD80",
"pos": [
239,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
135,
10
]
} |
We have also applied the sensitive fluorescence in situ hybridization (FISH) tandem probe assay to elucidate the frequency of chromosome breakage among a subgroup of the studied individuals harboring the NAT1*10 allele (17 lung cancer patients, 17 smoking controls and 7 non-smoking controls). | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
71,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
275,
7
]
} |
Compared with wild-type mice, SM22-5-HTT(+) mice showed depressed hypoxic pulmonary vasoconstriction contrasting with greater severity of hypoxia- or monocrotaline-induced PH. | NA | {
"id": 6876,
"name": "TAGLN",
"pos": [
30,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
138,
7
]
} |
We report pairs of oligonucleotide primers for polymerase chain reaction that should be useful to amplify and analyze various regions of the PIG-A gene in patients with PNH. | genomic_alterations | {
"id": 5277,
"name": "PIGA",
"pos": [
141,
5
]
} | {
"id": "C0024790",
"name": "Paroxysmal nocturnal hemoglobinuria",
"pos": [
169,
3
]
} |
All subjects were genotyped for the previously described TCF7L2 diabetes risk variants. | genomic_alterations | {
"id": 6934,
"name": "TCF7L2",
"pos": [
57,
6
]
} | {
"id": "C0011847",
"name": "Diabetes",
"pos": [
64,
8
]
} |
Finally, among 17 UCANs, the in vitro synthesized protein (IVSP) assay detected no truncated protein products, nor were there any abnormalities in size or DNA sequence of FHIT RT-PCR products. | NA | {
"id": 2272,
"name": "FHIT",
"pos": [
171,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
130,
13
]
} |
Subsets and Splits