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Conclusions Our data show that increased vascularization is associated with GM-CSF treatment of chronic venous ulcers and indicate that inflammatory cell-derived VEGF may act as an angiogenic mediator of the healing effect of GM-CSF in chronic ulcers. | NA | {
"id": 1437,
"name": "CSF2",
"pos": [
226,
6
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
41,
15
]
} |
Thus, polymorphisms in the TAP and LMP genes are unlikely to be associated with IDDM. | genomic_alterations | {
"id": 2317,
"name": "FLNB",
"pos": [
27,
3
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
80,
4
]
} |
Cox multivariable-adjusted hazard ratios (HR) and 95% confidence intervals (CI) were estimated for BC risk overall and by estrogen and progesterone receptor subtypes in relation to height and early life energy restriction during the Hunger Winter, War Years, and Economic Depression. | biomarker | {
"id": 5241,
"name": "PGR",
"pos": [
135,
21
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
272,
10
]
} |
Consequently, CtIP mutants defective in FANCD2 binding fail to associate with damaged chromatin, which leads to increased levels of nonhomologous end-joining activity and ICL hypersensitivity. | NA | {
"id": 5932,
"name": "RBBP8",
"pos": [
14,
4
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
175,
16
]
} |
Mutations in the KCNJ5 gene, which encodes the inward rectifier K(+) channel 4 (G protein-activated inward rectifier K(+) channel 4, Kir3.4), cause familial hyperaldosteronism type III (FH-III) and are involved in the pathogenesis of sporadic aldosterone-producing adenomas. | NA | {
"id": 3762,
"name": "KCNJ5",
"pos": [
133,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
234,
8
]
} |
Our report represents the first example of SDHB mutation as a cause of inherited mitochondrial respiratory chain disease and extends the SDHA mutation spectrum in patients with isolated complex II deficiency. | genomic_alterations | {
"id": 6390,
"name": "SDHB",
"pos": [
43,
4
]
} | {
"id": "C0342777",
"name": "Succinate-coenzyme Q reductase deficiency",
"pos": [
186,
21
]
} |
This study suggests that Egr1 decreases STAT3 expression via miR-106a in ovariectomized mice with cognitive impairment, indicating that Egr1 represents a potential target for therapeutic intervention in postmenopausal cognitive decline. | NA | {
"id": 6774,
"name": "STAT3",
"pos": [
40,
5
]
} | {
"id": "C0234985",
"name": "Mental deterioration",
"pos": [
218,
17
]
} |
The meta-analysis included six studies with NAT1 genotyping (610 prostate cancer cases and 713 controls), and 10 studies with NAT2 genotyping (1,253 cases and 1,722 controls). | genomic_alterations | {
"id": 9,
"name": "NAT1",
"pos": [
44,
4
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
65,
15
]
} |
CXCR4-mediated adhesion and MMP-9 secretion in head and neck squamous cell carcinoma. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
0,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
15,
8
]
} |
Mutations in the genes for the erythropoietin receptor, thrombopoietin and the von Hippel-Lindau protein were found to cause familial syndromes resembling MPD, but despite their phenotypic similarities, none of these mutations were later found in patients with the sporadic form of MPD. | NA | {
"id": 2057,
"name": "EPOR",
"pos": [
31,
23
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
265,
8
]
} |
We sequenced UBQLN2 in 130 French patients with familial ALS (FALS) and absence of male-to-male transmission and the PXX domain in 240 more patients with sporadic ALS (SALS). | NA | {
"id": 29978,
"name": "UBQLN2",
"pos": [
13,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
154,
8
]
} |
Although the majority of cases of schwannomatosis are sporadic, approximately one-third occur in families and a subset of these has recently been associated with germline mutations in the tumor suppressor gene SMARCB1/INI1. | NA | {
"id": 6598,
"name": "SMARCB1",
"pos": [
218,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
54,
8
]
} |
The rs4076018 SNP of NGFB was highly significant (p<.01) and rs2292657 SNP of GLI1 was significantly (p<.05) correlated to disc degeneration. | genomic_alterations | {
"id": 2735,
"name": "GLI1",
"pos": [
81,
4
]
} | {
"id": "C0158266",
"name": "Intervertebral Disc Degeneration",
"pos": [
129,
17
]
} |
These observations demonstrate that LRH1 promotes PC growth and angiogenesis, suggesting that LRH1 is a driving factor in tumorigenesis and may serve as a potential therapeutic target. | NA | {
"id": 2494,
"name": "NR5A2",
"pos": [
94,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
122,
13
]
} |
Serum starvation induces G1 arrest through suppression of Skp2-CDK2 and CDK4 in SK-OV-3 cells. | NA | {
"id": 1019,
"name": "CDK4",
"pos": [
72,
4
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
6,
10
]
} |
Local hyperglycemia either in L(5) dorsal root ganglion (DRG) or a segment of the sciatic nerve at mid-thigh level was maintained by perfusion with 30-mM glucose solution delivered from a surgically implanted osmotic minipump. | NA | {
"id": 4733,
"name": "DRG1",
"pos": [
57,
3
]
} | {
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
6,
13
]
} |
These alterations consist of either a tald submicroscopic deletion (12-26% of T-ALL) or a t(1;14)(p32;q11) chromosomal translocation (3% of childhood T-ALL). | NA | {
"id": 708,
"name": "C1QBP",
"pos": [
98,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
107,
25
]
} |
Our studies show that activation of NF-κB signaling via deletion of one allele of its inhibitor, IκBα, did not induce prostatic tumorigenesis in our mouse model. | NA | {
"id": 4792,
"name": "NFKBIA",
"pos": [
97,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
128,
13
]
} |
The novel variants that were observed only in the infertile cohort included the SNP c.65G>A mutation which resulted in an amino acid change at the codon 22 (p.Ser22Asn) in the PRM1 gene, a mutation in the promoter region of PRM2 (-67C>T) and a nonsense mutation in the PRM3 gene. | NA | {
"id": 5619,
"name": "PRM1",
"pos": [
176,
9
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
50,
9
]
} |
In contrast, levels of transcript were significantly elevated (up to 16-fold) in total RNA derived from bladder and ureteric carcinomas, with the highest levels of elevation approaching those previously found only for the GST-P gene in experimentally induced rodent hepatocellular carcinomas. | NA | {
"id": 4948,
"name": "OCA2",
"pos": [
226,
6
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
125,
10
]
} |
Mutations in the immunoglobulin-like, II-III (IgII-III) linker region of FGFR1 and FGFR3 molecules may present as a skeletal dysplasia affecting the appendicular skeleton including, brachydactyly, short broad middle phalanges, phalangeal epiphyseal coning and broad halluces. | NA | {
"id": 2261,
"name": "FGFR3",
"pos": [
83,
5
]
} | {
"id": "C0393983",
"name": "Hernia of cerebellar tonsil into foramen magnum",
"pos": [
249,
6
]
} |
CD36 and TSP-1 were necessary for the phagocytosis of neutrophils induced by hypoxic macrophages, since functional blockade of these proteins undermined this process. | NA | {
"id": 948,
"name": "CD36",
"pos": [
0,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
77,
7
]
} |
Myeloid differentiation primary response 88 (MyD88), downstream of the IL-1 receptor, has functions in both RAS signaling and inflammation, leading to human cell transformation. | NA | {
"id": 4616,
"name": "GADD45B",
"pos": [
0,
40
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
126,
12
]
} |
We examined the prognostic associations and interactions by age at colorectal cancer diagnosis (<60 vs. 60-74 vs. ≥75 years old) of key molecular factors-CpG island methylator phenotype (CIMP), microsatellite instability (MSI), KRAS, BRAF, and PIK3CA mutations, and nuclear CTNNB1 expression status-on colorectal cancer-specific survival (CSS) and overall survival (OS), using 1,280 incident colorectal cancer cases (median age, 69 years; range, 38-91 years) within the Nurses' Health Study and Health Professionals Follow-up Study cohorts. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
274,
6
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
194,
26
]
} |
The high frequency of the U2AF1 S34Y mutation and its association with isolated trisomy 8 in myelodysplastic syndrome in Asians, but not in Caucasians. | genomic_alterations | {
"id": 7307,
"name": "U2AF1",
"pos": [
26,
5
]
} | {
"id": "C3900098",
"name": "Adult Myelodysplastic Syndrome",
"pos": [
93,
24
]
} |
(2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
7,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
44,
8
]
} |
Our data demonstrate that KEAP1/NRF2-mutant lung cancer is a microenvironmentally distinct, biologically heterogeneous, and clinically underestimated disease. | genomic_alterations | {
"id": 2551,
"name": "GABPA",
"pos": [
32,
4
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
44,
11
]
} |
Nicotinic acid (niacin) was shown to inhibit atherosclerosis by activating the anti-inflammatory G protein-coupled receptor GPR109A [also known as hydroxycarboxylic acid receptor 2 (HCA2)] expressed on immune cells, blunting immune activation and adventitial inflammatory cell infiltration. | biomarker | {
"id": 680,
"name": "BRS3",
"pos": [
97,
26
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
45,
15
]
} |
IFN-α production was significantly enhanced by the hypoxia-mimicking agent deferoxamine mesylate in cell lines expressing the wild-type von Hippel-Lindau (VHL) gene (KU19-20 and ACHN) compared with cells expressing the mutant VHL gene (786-O). | NA | {
"id": 7428,
"name": "VHL",
"pos": [
226,
8
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
51,
7
]
} |
To examine cancer-related allelic loss in the region between D11S940 and APOC3, we used 17 polymorphic markers and allotyped 28 lung cancer-derived cell lines and their corresponding matched lymphoblastoid cell lines. | biomarker | {
"id": 345,
"name": "APOC3",
"pos": [
73,
5
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
128,
11
]
} |
Analysis by SSCP, DNA sequencing, northern blotting, Southern blotting and pulsed field gel electrophoresis revealed no additional genetic abnormalities of ZFM1 in the other MEN1 patients. | NA | {
"id": 7536,
"name": "SF1",
"pos": [
156,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
139,
13
]
} |
Twenty subjects with primary hyperalphalipoproteinemia (HAL, with HDLc in the highest 10th percentile and absence of overt secondary causes of this condition), aged 30-65 years, were compared with 20 age and sex-matched controls. | NA | {
"id": 3034,
"name": "HAL",
"pos": [
56,
3
]
} | {
"id": "C0342883",
"name": "Cholesteryl Ester Transfer Protein Deficiency",
"pos": [
29,
25
]
} |
However, 6-OHDA-induced axonal degeneration did not induce any transsynaptic spread of AAV infection in the striatum. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
87,
3
]
} | {
"id": "C1837496",
"name": "Axonal degeneration",
"pos": [
24,
19
]
} |
Knowledge of ATR mutation status may hold promise for individualized treatment and targeted therapies in patients with endometrial cancer. | NA | {
"id": 84168,
"name": "ANTXR1",
"pos": [
13,
3
]
} | {
"id": "C0476089",
"name": "Endometrial Carcinoma",
"pos": [
119,
18
]
} |
DRD4 and TH gene polymorphisms are associated with activity, impulsivity and inattention in Siberian Husky dogs. | genomic_alterations | {
"id": 1815,
"name": "DRD4",
"pos": [
0,
4
]
} | {
"id": "C0021125",
"name": "Impulsive Behavior",
"pos": [
61,
11
]
} |
Using genome-wide transcriptional analysis in an experimental metastasis model, we identified laminin γ2 (LAMC2), an epithelial basement membrane protein, to be significantly upregulated in lung adenocarcinoma metastatic cells. | NA | {
"id": 3918,
"name": "LAMC2",
"pos": [
106,
5
]
} | {
"id": "C0334277",
"name": "Adenocarcinoma, metastatic",
"pos": [
195,
25
]
} |
Mandibuloacral dysplasia (MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, and mottled cutaneous pigmentation. | NA | {
"id": 270,
"name": "AMPD1",
"pos": [
26,
3
]
} | {
"id": "C0917990",
"name": "Acro-Osteolysis",
"pos": [
155,
14
]
} |
These findings suggest that fractalkine/CX3CR1 system may play an important role in SE-induced neuronal damages via neuron-microglial interactions. | therapeutic | {
"id": 1524,
"name": "CX3CR1",
"pos": [
40,
6
]
} | {
"id": "C0038220",
"name": "Status Epilepticus",
"pos": [
84,
2
]
} |
Both hypoxia and PKCα down-regulation also led to increased STC1 protein levels. | NA | {
"id": 6781,
"name": "STC1",
"pos": [
60,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
5,
7
]
} |
TRAIL-R1 and TRAIL-R2 expression was higher in melanomas than in nevi (P < 0.0001), and higher in primary than in metastatic specimens (P = 0.0031 and P < 0.0001, respectively). | NA | {
"id": 8795,
"name": "TNFRSF10B",
"pos": [
13,
8
]
} | {
"id": "C0027960",
"name": "Nevus",
"pos": [
65,
4
]
} |
Therefore, P‑PRP may be more suitable for the treatment of osteoarthritis. | biomarker | {
"id": 5621,
"name": "PRNP",
"pos": [
13,
3
]
} | {
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
59,
14
]
} |
We genotyped single nucleotide polymorphisms (SNPs) in PKN2, IGFBP2, FLJ39370 (also known as C4ORF32), CDKAL1, SLC30A8, CDKN2B, HHEX and FTO using a Norwegian population-based sample of 1,638 patients with type 2 diabetes and 1,858 non-diabetic control participants (the HUNT Study), for all of whom data on BMI, WHR, cholesterol and triacylglycerol levels were available. | NA | {
"id": 5586,
"name": "PKN2",
"pos": [
55,
4
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
206,
15
]
} |
Frequencies of CDKN2A mutations in materials of sporadic MPM cases from pigmented lesion clinics vary between 8 and 15%. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
15,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
48,
8
]
} |
Affected individuals develop a variable phenotype of hemorrhage caused by a broad range of mutations within the Factor VIII or Factor IX gene. | NA | {
"id": 2158,
"name": "F9",
"pos": [
128,
9
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
54,
10
]
} |
Mismatch repair (MMR) proteins are capable of recognizing and processing not only single base-pair mismatches and insertion-deletion loops that occur during DNA replication, but also adducts in DNA resulting from treatment with cancer chemotherapy agents. | genomic_alterations | {
"id": 4360,
"name": "MRC1",
"pos": [
17,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
228,
6
]
} |
Lepidic predominant adenocarcinoma was rarely found in ALK fusion patients (2.7 vs. 13.5 % p = 0.025), while IMA (invasive mucinous adenocarcinoma) predominant adenocarcinoma was more frequently found (21.6 vs. 5.0 % p < 0.001). | genomic_alterations | {
"id": 238,
"name": "ALK",
"pos": [
55,
3
]
} | {
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
160,
14
]
} |
On the other hand, genetic alterations of the cyclin D1 and p16INK4A genes were not so frequent, but appeared to be associated with the aggressive behavior of the tumor, which suggests that disruption of the cell cycle-related genes results in the progression of HCC. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
60,
8
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
163,
5
]
} |
A subsequent advanced SCC bearing EGFR L858R/T790M mutations occurred 3 years after surgery. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
34,
4
]
} | {
"id": "C0149782",
"name": "Squamous cell carcinoma of lung",
"pos": [
22,
3
]
} |
Chronic hyperinsulinaemia in insulin-resistant syndromes results in the cytoplasmic localization and inactivation of Foxa2, thereby promoting lipid accumulation and insulin resistance in the liver. | NA | {
"id": 3170,
"name": "FOXA2",
"pos": [
117,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
165,
18
]
} |
Boucher-Neuhäuser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A), atypical haemolytic-uremic syndrome due to DGKE deficiency (DGKE). | NA | {
"id": 9791,
"name": "PTDSS1",
"pos": [
194,
6
]
} | {
"id": "C0037773",
"name": "Spastic Paraplegia, Hereditary",
"pos": [
76,
29
]
} |
Pediatric mixed-lineage leukemia (MLL)-rearranged acute monoblastic leukemia with t(9;11)(p22;q23) has a favorable outcome compared with other MLL-rearranged AML. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
90,
3
]
} | {
"id": "C0457334",
"name": "Acute monoblastic leukemia",
"pos": [
50,
26
]
} |
The present study examined the oncolytic effects of adenovirus type 5 (Ad5) and fiber-substituted conditionally replicating adenovirus (CRAD) Ad5/F35 vectors on the human malignant mesothelioma cells MSTO-211H, NCI-H28, NCI-H2052, and NCI-H2452 cells. | NA | {
"id": 57482,
"name": "CRACD",
"pos": [
136,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
124,
10
]
} |
Binary adenoviral Bak (Ad/GT-Bak and Ad/GV16) and LacZ (Ad/GT-LacZ and Ad/GV16) vectors were used for transduction of the mesothelioma cell lines I-45 (p53 resistant) and REN (p53 sensitive). | NA | {
"id": 147040,
"name": "KCTD11",
"pos": [
171,
3
]
} | {
"id": "C0025500",
"name": "Mesothelioma",
"pos": [
122,
12
]
} |
The FcgammaR polymorphisms were then correlated with the incidence of rituximab-induced neutropenia, event-free survival (EFS), and overall survival (OS). | NA | {
"id": 10278,
"name": "EFS",
"pos": [
122,
3
]
} | {
"id": "C0027947",
"name": "Neutropenia",
"pos": [
88,
11
]
} |
Recently a candidate serous cancer precursor containing p53 mutations (p53 signature) was described in the fallopian tube. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
56,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
28,
6
]
} |
To investigate the significance of carbonic anhydrase IV gene mutations in sporadic retinitis pigmentosa (RP) among the Chinese population. | NA | {
"id": 8114,
"name": "IV",
"pos": [
54,
7
]
} | {
"id": "C0035334",
"name": "Retinitis Pigmentosa",
"pos": [
84,
20
]
} |
Preserved global histone H4 acetylation linked to ETV6-RUNX1 fusion and PAX5 deletions is associated with favorable outcome in pediatric B-cell progenitor acute lymphoblastic leukemia. | biomarker | {
"id": 8361,
"name": "H4C6",
"pos": [
17,
10
]
} | {
"id": "C1961102",
"name": "Precursor Cell Lymphoblastic Leukemia Lymphoma",
"pos": [
155,
28
]
} |
To uncover how 14-3-3ε contributes to the tumor progression of HCC, we investigated the potential downstream targets regulated by 14-3-3ε. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
63,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
42,
17
]
} |
We investigated the chromosomal localization of the 5-HT1F receptor gene and the relation between eventually existing polymorphisms and the clinical response to sumatriptan in migraine patients. | genomic_alterations | {
"id": 3355,
"name": "HTR1F",
"pos": [
52,
6
]
} | {
"id": "C0149931",
"name": "Migraine Disorders",
"pos": [
176,
8
]
} |
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations <i>via</i> Dysregulation of Retinoic Acid Signaling. | genomic_alterations | {
"id": 8204,
"name": "NRIP1",
"pos": [
23,
38
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
83,
13
]
} |
APRI showed a better sensitivity than AST/ALT for prediction of significant fibrosis. | NA | {
"id": 2805,
"name": "GOT1",
"pos": [
38,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
76,
8
]
} |
Analysis of variance showed that the ET2 genotype was an independent predictor of pre-treatment diastolic blood pressure (DBP) in the hypertensive (P< 0.001) but not normotensive group with higher pressures tracking with the (-) allele. | NA | {
"id": 1907,
"name": "EDN2",
"pos": [
37,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
96,
24
]
} |
Finally, exogenously expressed skeletrophin, but not its RING mutant, increased transcription of Hes1 gene, a downstream effector of Notch pathway in melanoma cells. | NA | {
"id": 3280,
"name": "HES1",
"pos": [
97,
9
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
150,
8
]
} |
Following a clue as to the location of the FAP gene given by a case report of an individual with an interstitial deletion of chromosome 5q, who had FAP and multiple developmental abnormalities, we have examined sporadic colorectal adenocarcinomas for loss of alleles on chromosome 5. | NA | {
"id": 2191,
"name": "FAP",
"pos": [
43,
8
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
179,
13
]
} |
CBP is the first partner gene of MLL containing well defined structural and functional motifs that provide unique insights into the potential mechanisms by which these translocations contribute to leukemogenesis. | biomarker | {
"id": 55824,
"name": "PAG1",
"pos": [
0,
3
]
} | {
"id": "C0598766",
"name": "Leukemogenesis",
"pos": [
197,
14
]
} |
Despite fundamental limitations applying to these models, such as the distinct immune system and the different metabolism regulating liver homeostasis in rodents when compared to humans, multiple approaches, such as surgery (bile duct ligation), chemical-induced (3,5-diethoxycarbonyl-1,4-dihydrocollidine, DDC, α-naphthylisothiocyanate, ANIT), viral infections (Rhesus rotavirustype A, RRV-A), and genetic manipulation (Mdr2, Cftr, Pkd1, Pkd2, Prkcsh, Sec63, Pkhd1) have been developed. | genomic_alterations | {
"id": 5244,
"name": "ABCB4",
"pos": [
421,
4
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
345,
16
]
} |
In a previous analysis of gene expression in pancreatic adenocarcinoma using serial analysis of gene expression (SAGE), we found that the tag for the mesothelin mRNA transcript was present in seven of eight SAGE libraries derived from pancreatic carcinomas but not in the two SAGE libraries derived from normal pancreatic duct epithelial cells. | NA | {
"id": 55511,
"name": "SAGE1",
"pos": [
276,
4
]
} | {
"id": "C0281361",
"name": "Adenocarcinoma of pancreas",
"pos": [
45,
25
]
} |
Given that the bone marrow (BM) hypoxic microenvironment supports hematopoietic stem cells, we investigated whether hypoxia similarly contributes to LSC persistence. | NA | {
"id": 9138,
"name": "ARHGEF1",
"pos": [
150,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
117,
7
]
} |
The objective of the study was to examine whether somatic 17q22-24 changes, PRKAR1A mutations, and/or PKA abnormalities are present in AIMAH. | NA | {
"id": 5573,
"name": "PRKAR1A",
"pos": [
76,
7
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
106,
13
]
} |
Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13. | NA | {
"id": 4715,
"name": "NDUFB9",
"pos": [
6,
11
]
} | {
"id": "C0011053",
"name": "Deafness",
"pos": [
86,
8
]
} |
However, studies in humans on the association of BDNF Val66Met and reward-related brain functions and its role for alcohol consumption, a significant predictor of later alcohol addiction, are missing. | NA | {
"id": 627,
"name": "BDNF",
"pos": [
49,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
115,
19
]
} |
Prognostic importance of single-nucleotide polymorphisms in IL-6, IL-10, TGF-β1, IFN-γ, and TNF-α genes in chronic phase chronic myeloid leukemia. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
60,
4
]
} | {
"id": "C0023474",
"name": "Leukemia, Myeloid, Chronic-Phase",
"pos": [
107,
38
]
} |
High molecular weight (HMW) adiponectin (APN) is closely correlated with the development of fatty liver and is modulated by the Akt/forkhead box protein O1 (FOXO1) pathway through disulfide‑bond A oxidoreductase‑like protein (DsbA‑L). | biomarker | {
"id": 290,
"name": "ANPEP",
"pos": [
41,
3
]
} | {
"id": "C0015695",
"name": "Fatty Liver",
"pos": [
92,
11
]
} |
Because serum starvation contributes to the induction of apoptosis, these results suggest a role of the 30-bp proximal APP promoter element in enhanced apoptotic neuronal cell death. | NA | {
"id": 351,
"name": "APP",
"pos": [
119,
3
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
14,
10
]
} |
This same SNP showed evidence of association with diabetes in a subset of patients (DR3/DR4*0302) from HBDI families. | NA | {
"id": 8718,
"name": "TNFRSF25",
"pos": [
84,
3
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
50,
8
]
} |
Expression levels of the transcription factor HOXC11 and its coactivator SRC-1 were significantly elevated in malignant melanoma in comparison with benign nevi (P<0.001 and P=0.017, respectively, n=80), and expression of HOXC11 and SRC-1 in the malignant tissue associated with each other (P<0.001). | NA | {
"id": 3227,
"name": "HOXC11",
"pos": [
221,
6
]
} | {
"id": "C0027960",
"name": "Nevus",
"pos": [
155,
4
]
} |
The findings of this study suggest that miR-155 and β-catenin may have a unique potential as a novel biomarker candidate for diagnosis and treatment of tumor metastasis. | biomarker | {
"id": 406947,
"name": "MIR155",
"pos": [
40,
7
]
} | {
"id": "C2939419",
"name": "Secondary Neoplasm",
"pos": [
152,
16
]
} |
Initial genotype-phenotype correlations, as well as emerging functional data, have aligned the new mutants either with defects in hypoxic-angiogenic signaling (SDH-related) or kinase receptor/mTOR pathways (TMEM127 and MAX). | NA | {
"id": 4149,
"name": "MAX",
"pos": [
219,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
130,
7
]
} |
Rarely, CSF HIV escape presents with neurological symptoms, called neurosymptomatic escape. | genomic_alterations | {
"id": 1437,
"name": "CSF2",
"pos": [
8,
3
]
} | {
"id": "C0235031",
"name": "Neurologic Symptoms",
"pos": [
37,
21
]
} |
Since MYC is frequently over-expressed in BC, this phenomenon could play a critical role in BCR/ABL1 up-regulation and blast aggressiveness acquired during CML evolution. | NA | {
"id": 4609,
"name": "MYC",
"pos": [
6,
3
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
125,
14
]
} |
CONCLUSIONS: Loss-of-function SCN5A mutations are associated with dilatation and impairment in contractile function of both ventricles that can be detected by CMR analysis. | NA | {
"id": 6331,
"name": "SCN5A",
"pos": [
30,
5
]
} | {
"id": "C0002940",
"name": "Aneurysm",
"pos": [
66,
10
]
} |
Differences in the GSTM1 and GSTT1 null genotype frequencies were observed between individuals of European origin and African origin, but these genotypes do not seem to influence the risk of oral cancer. | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
29,
5
]
} | {
"id": "C0220641",
"name": "Lip and Oral Cavity Carcinoma",
"pos": [
191,
11
]
} |
Therefore, we aimed to clarify the role of ELTD1 in pressure overload-induced cardiac hypertrophy. | NA | {
"id": 64123,
"name": "ADGRL4",
"pos": [
43,
5
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
78,
19
]
} |
However, its role in primary gallbladder carcinoma (PGC) is still unclear. | NA | {
"id": 5225,
"name": "PGC",
"pos": [
52,
3
]
} | {
"id": "C0235782",
"name": "Gallbladder Carcinoma",
"pos": [
29,
21
]
} |
Because increased Spry4 levels are accompanied by disappearing ERK phosphorylation, Spry4 might be involved in the timely restriction of MAPK signals under hypoxic conditions, similar to its role in mitogen-regulated processes. | NA | {
"id": 81848,
"name": "SPRY4",
"pos": [
84,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
156,
7
]
} |
The objective was to delineate the clinical features in young Indian patients with T2DM and to determine the role of mutations in the hepatocyte nuclear factor 1alpha (HNF1alpha) gene [MODY3 (maturity-onset diabetes of the young, type 3)], mitochondrial A3243G mutation, and islet autoimmunity in its etiology. | genomic_alterations | {
"id": 6927,
"name": "HNF1A",
"pos": [
185,
5
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
83,
4
]
} |
We observed a statistically significant reduction in viral load after STI in carriers of HLA-B alleles containing either the Bw480Thr or the Bw480Ile epitope (mean adjusted effect on post-STI viral load: -0.82 log HIV-1 RNA copies/ml, P < 0.001; and -1.12 log copies/ml, P < 0.001, respectively). | NA | {
"id": 3106,
"name": "HLA-B",
"pos": [
89,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
192,
10
]
} |
Our results indicate the differences in the evolvement of epigenetic alterations between the EGFR- and K-RAS-mediated tumorigenesis and suggest the specific interaction of genetic and epigenetic changes in tumorigenesis of lung cancer. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
93,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
206,
13
]
} |
Overexpression of multiple myeloma SET domain (MMSET) is associated with advanced tumor aggressiveness and poor prognosis in serous ovarian carcinoma. | NA | {
"id": 7468,
"name": "NSD2",
"pos": [
47,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
88,
14
]
} |
These results supply the biochemical backgrounds in recent studies suggesting the contribution of Muc4 in the tumorigenesis. | NA | {
"id": 4585,
"name": "MUC4",
"pos": [
98,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
110,
13
]
} |
The common -514 C-T promoter polymorphism of the hepatic lipase gene (LIPC) and the cholesteryl ester transfer protein (CETP) gene TaqIB polymorphism affect atherogenesis. | NA | {
"id": 3990,
"name": "LIPC",
"pos": [
70,
4
]
} | {
"id": "C1563937",
"name": "Atherogenesis",
"pos": [
157,
13
]
} |
The purpose of this study was to investigate the role of miR-150, a potential p300-targeting microRNA (miRNA), in the post-transcriptional control of p300 expression and cardiomyocyte hypertrophy induced by high glucose. | NA | {
"id": 2033,
"name": "EP300",
"pos": [
78,
4
]
} | {
"id": "C4227331",
"name": "Cardiomyocyte hypertrophy",
"pos": [
170,
25
]
} |
In contrast, no significant association was detected in the comparison of genotypes and allele of FSHR gene rs1394205 between pre-eclampsia patients and normal pregnancies. | NA | {
"id": 2492,
"name": "FSHR",
"pos": [
98,
9
]
} | {
"id": "C0032914",
"name": "Pre-Eclampsia",
"pos": [
126,
13
]
} |
In addition, in HLA-B27-positive AS patients, TLR4 level showed close associations with the cytokines and laboratory parameters of disease activity [erythrocyte sedimentation rate (ESR) and plasma C-reactive protein (CRP)], respectively. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
217,
3
]
} | {
"id": "C1619634",
"name": "erythrocyte sedimentation rate result",
"pos": [
149,
30
]
} |
The FISH results were compared with results of karyotype study of the lymph nodes involved in lymphoma. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
4,
4
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
94,
8
]
} |
TAZ and YAP are transcriptional coactivators that can contribute to cancer by promoting proliferation, tumorigenesis, and cancer stem cell expansion. | NA | {
"id": 10413,
"name": "YAP1",
"pos": [
8,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
103,
13
]
} |
Expression of MYCN or ALK(F1174L), one of the oncogenic ALK variants identified in primary neuroblastomas, enabled these cells to grow independently of c-MycER(T) activity in vitro and caused formation of neuroblastoma-like tumors in vivo in contrast to parental JoMa1 cells and JoMa1 cells-expressing TrkA or GFP. | genomic_alterations | {
"id": 4613,
"name": "MYCN",
"pos": [
14,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
224,
6
]
} |
In the present study, we found that the frequencies of DPA1 *0202 and DPB1 *0501 alleles were significantly increased in patients with Asian type MS, as compared with findings in 92 healthy control subjects (91.3% vs 65.2%, P(corr)<0.05 and 89.1% vs 63.0%, P(corr)<0.05 respectively), but not in Western type MS. Our data provide further evidence that Asian and Western type MS are distinct regarding the immunogenetic background. | genomic_alterations | {
"id": 3115,
"name": "HLA-DPB1",
"pos": [
70,
4
]
} | {
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
146,
2
]
} |
gamma-Glutamyl transpeptidase (GGT) has been reported to be a virulence factor of Helicobacter pylori associated with bacterial colonization and cell apoptosis. | biomarker | {
"id": 729838,
"name": "GGTLC4P",
"pos": [
31,
3
]
} | {
"id": "C0374997",
"name": "Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site",
"pos": [
82,
19
]
} |
SERCA3 expression was negatively related to depth of invasion, distant metastasis, and tumor node metastasis (TNM) staging (P > 0.05), but not to age, sex, lymphatic or venous invasion, or lymph node metastasis (P > 0.05). | NA | {
"id": 489,
"name": "ATP2A3",
"pos": [
0,
6
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
98,
10
]
} |
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