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dict |
|---|---|---|---|
Endothelin-1 in the tumor microenvironment correlates with melanoma invasion. | biomarker | {
"id": 1906,
"name": "EDN1",
"pos": [
0,
12
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
68,
8
]
} |
We investigated the association of polymorphisms of the CFH gene in two large-scale studies on CAD and myocardial infarction (MI). | genomic_alterations | {
"id": 3075,
"name": "CFH",
"pos": [
56,
3
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
95,
3
]
} |
MerTK cleavage limits proresolving mediator biosynthesis and exacerbates tissue inflammation. | NA | {
"id": 10461,
"name": "MERTK",
"pos": [
0,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
80,
12
]
} |
Polymorphism -765 G/C in COX-2-encoding gene promoter is associated with development of Alzheimer's disease, depression, carcinoma of the pancreas in smokers, breast cancer and rheumatoid arthritis. | genomic_alterations | {
"id": 4513,
"name": "COX2",
"pos": [
25,
5
]
} | {
"id": "C0011570",
"name": "Mental Depression",
"pos": [
109,
10
]
} |
Charcot-Marie-Tooth (CMT) disease type 2 (CMT2) is an inherited peripheral neuropathy characterized by variable age of onset and normal or slightly diminished nerve conduction velocity. | biomarker | {
"id": 23095,
"name": "KIF1B",
"pos": [
42,
4
]
} | {
"id": "C2932678",
"name": "Inherited Peripheral Neuropathy",
"pos": [
54,
31
]
} |
Apocynin (but not allopurinol) co-treatment prevented (142+/-3 ACTH, 120+/-4 mm Hg apocynin+ACTH, P'<0.001) and reversed ACTH-induced hypertension (133+/-4 to 118+/-5 mm Hg, P<.05). | therapeutic | {
"id": 5443,
"name": "POMC",
"pos": [
63,
4
]
} | {
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
137,
12
]
} |
Granulocyte colony-stimulating factor (G-CSF) and pegylated G-CSF (peg-G-CSF) have been approved by the U.S. Food and Drug Administration as hematopoietic growth factors to treat chemotherapy-induced neutropenia. | therapeutic | {
"id": 1440,
"name": "CSF3",
"pos": [
0,
37
]
} | {
"id": "C0027947",
"name": "Neutropenia",
"pos": [
200,
11
]
} |
The degree of MCP joint flexion in both hands showed moderate correlation with the MDS-UPDRS-III motor score (r = 0.518, P < 0.001), mainly related to ipsilateral rigidity and ipsilateral bradykinesia scores, and fair correlation with the Hoehn-Yahr stage. | genomic_alterations | {
"id": 5048,
"name": "PAFAH1B1",
"pos": [
83,
3
]
} | {
"id": "C0026837",
"name": "Muscle Rigidity",
"pos": [
166,
8
]
} |
Patients with HOX11-high expression and those with SIL-TAL fusion had low levels of residual disease at the end of induction and a favorable prognosis: the 3-year EFS rate was 83.3% (+/- 8.5%) and 75.3% (+/- 12.6%), respectively. | NA | {
"id": 90678,
"name": "LRSAM1",
"pos": [
55,
3
]
} | {
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
84,
16
]
} |
Unlike KS1, developmental delay and learning disability are generally moderate-severe in boys but mild-moderate in girls with KS2. | NA | {
"id": 9547,
"name": "CXCL14",
"pos": [
7,
3
]
} | {
"id": "C0424605",
"name": "Developmental delay (disorder)",
"pos": [
12,
19
]
} |
Our findings suggest that genetic variations of COMT can contribute to the enlargement of the lateral ventricles described in early phases of non-affective psychosis. | NA | {
"id": 1312,
"name": "COMT",
"pos": [
48,
4
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
75,
11
]
} |
A logistic regression model showed that the presence of genotype with T allele (AT+TT; odds ratio [OR], 2.01; 95% CI, 1.19 to 3.38; P=0.009) or AA genotype (OR, 0.49; 95% CI, 0.30 to 0.84; P=0.009) of the SERPINA3 influences the risk for aneurysmal SAH independently from smoking, excessive alcohol consumption, and hypertension. | NA | {
"id": 12,
"name": "SERPINA3",
"pos": [
205,
8
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
272,
7
]
} |
CAV and myocardial fibrosis were remarkably reduced and graft survival extended compared with non-pretreated recipients (P < .05). | NA | {
"id": 763,
"name": "CA5A",
"pos": [
0,
3
]
} | {
"id": "C0151654",
"name": "Myocardial fibrosis",
"pos": [
8,
19
]
} |
The close anatomical relationship of the exocrine and endocrine pancreas prompted us to determine the role of DPC4 in the tumorigenesis of 25 pancreatic islet cell tumors (11 insulinomas, nine non-functioning endocrine carcinomas, three gastrinomas, two vipomas). | NA | {
"id": 4089,
"name": "SMAD4",
"pos": [
110,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
122,
13
]
} |
Analysis of MAI, immunohistochemical staining patterns for proliferation-associated phosphohistone H3 (PPH3), phosphorylated ERK1/2, p21, cyclin E, Ki67 and cyclin D1 proteins; and prognosis in 158 adjuvant chemotherapy-treated T1-2N0M0 invasive breast cancer patients, analysis of LOH at 1p31 (including ARHI) using the dinucleotide repeats D1S207, D1S430 and D1S464 in 76 patients. | NA | {
"id": 9077,
"name": "DIRAS3",
"pos": [
305,
4
]
} | {
"id": "C0853879",
"name": "Invasive carcinoma of breast",
"pos": [
237,
22
]
} |
Similarly, haploinsufficiency of PRDM16-a gene which was recently shown to be sufficient to cause the left ventricular noncompaction-SKI, PRKCZ, RERE, UBE4B and MASP2 may contribute to the development of cardiomyopathy. | NA | {
"id": 55733,
"name": "HHAT",
"pos": [
133,
3
]
} | {
"id": "C1960469",
"name": "Left ventricular noncompaction",
"pos": [
102,
30
]
} |
In this study, we tested the calcyon gene (DRD1IP), which encodes a brain-specific D1-interacting protein involved in D1/D5 receptors calcium signalling, for association with ADHD. | genomic_alterations | {
"id": 50632,
"name": "CALY",
"pos": [
43,
6
]
} | {
"id": "C1263846",
"name": "Attention deficit hyperactivity disorder",
"pos": [
175,
4
]
} |
Ten patients with acute B19 infection and 16 patients with other skin diseases were enrolled. | NA | {
"id": 59271,
"name": "EVA1C",
"pos": [
24,
3
]
} | {
"id": "C0037274",
"name": "Dermatologic disorders",
"pos": [
65,
13
]
} |
To determine whether the ability of VEGF to attenuate behavioral deficits was accompanied by sustained preservation of hippocampal neurons, we stereologically estimated CA1 pyramidal neuron densities 4 weeks after status epilepticus. | NA | {
"id": 759,
"name": "CA1",
"pos": [
169,
3
]
} | {
"id": "C0038220",
"name": "Status Epilepticus",
"pos": [
214,
18
]
} |
Inconsistent effects of the proline12 --> alanine variant of the peroxisome proliferator-activated receptor-gamma2 gene on body mass index in children and adolescent girls. | NA | {
"id": 5465,
"name": "PPARA",
"pos": [
65,
42
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
123,
15
]
} |
Clinical characteristics of CGN (nephritis, debute, its clinical and morphological variants, analysis of the clinical course as regards arterial hypertension severity, rate of persistence of proteinuria (PU) of the nephrotic level for 6 months and longer, frequency of AH combination with persistent PU was made retrospectively in the groups of patients by genotypes of the genes ACE, CYP11B2 and NOS3. | NA | {
"id": 1585,
"name": "CYP11B2",
"pos": [
385,
7
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
191,
11
]
} |
In addition, it will discuss the recent identification of LRRK2 mutation as a cause of PD and the potential of this finding to provide further insight into disease. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
58,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
87,
2
]
} |
Does PGD for aneuploidy screening change the selection of embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men? | NA | {
"id": 5226,
"name": "PGD",
"pos": [
5,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
13,
10
]
} |
Fifteen single nucleotide polymorphisms (SNPs) mapped in or near 11 loci (PDZK1, GCKR, LRP2, SLC2A9, ABCG2, LRRC16A, SLC17A1, SLC17A3, SLC22A11, SLC22A12 and SF1) were genotyped and serum biochemical parameters related to uric acid and T2D were determined. | biomarker | {
"id": 116085,
"name": "SLC22A12",
"pos": [
145,
8
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
236,
3
]
} |
Effect of berberine on expressions of uncoupling protein-2 mRNA and protein in hepatic tissue of non-alcoholic fatty liver disease in rats. | therapeutic | {
"id": 7351,
"name": "UCP2",
"pos": [
38,
20
]
} | {
"id": "C3150651",
"name": "FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2",
"pos": [
97,
33
]
} |
Haplotype and linkage disequilibrium analysis demonstrated two haplotypes, differing at position TNF-308, conferring an increased risk of trichiasis. | genomic_alterations | {
"id": 7124,
"name": "TNF",
"pos": [
97,
3
]
} | {
"id": "C0221259",
"name": "Trichiasis",
"pos": [
138,
10
]
} |
There were no deletions of p16 and p15 in any of the hepatoma cell lines. | biomarker | {
"id": 10573,
"name": "MRPL28",
"pos": [
35,
3
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
53,
8
]
} |
AIM: To investigate the association of Osteopontin (OPN) gene polymorphism and serum thrombin-cleaved OPN level with the susceptibility to ischemic stroke (IS) and its prognosis. | NA | {
"id": 922,
"name": "CD5L",
"pos": [
0,
3
]
} | {
"id": "C0948008",
"name": "Ischemic stroke",
"pos": [
139,
15
]
} |
To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myopathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dystrophy 2J (LGMD2J). | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
184,
3
]
} | {
"id": "C1450052",
"name": "Tibial Muscular Dystrophy",
"pos": [
152,
25
]
} |
In addition, HMs that developed persistent disease displayed higher PAK1 immunoreactivity than those that regressed (P = 0.016), and elevated PAK1 immunoreactivity was observed in placental site trophoblastic tumors. | NA | {
"id": 5058,
"name": "PAK1",
"pos": [
142,
4
]
} | {
"id": "C0041182",
"name": "Trophoblastic Neoplasms",
"pos": [
195,
20
]
} |
The similar AQP2-LIR translocation was also demonstrated by forskolin and blocked by vasopressin/V2R specific antagonist, OPC31260 and protein kinase A (PKA) specific antagonists, H-89 and KT-5720. | NA | {
"id": 554,
"name": "AVPR2",
"pos": [
97,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
21,
13
]
} |
In consistency, the KRT8 haplotype 2211 was associated with mild CF disease while 1122 was observed as risk haplotype. | NA | {
"id": 3856,
"name": "KRT8",
"pos": [
20,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
60,
4
]
} |
Previous studies have shown that overexpression of the guanine nucleotide exchange factor T (GEFT) is correlated with a poorer RMS prognosis, but the mechanism remains largely unexplored. | genomic_alterations | {
"id": 5923,
"name": "RASGRF1",
"pos": [
55,
34
]
} | {
"id": "C0279550",
"name": "Adult Rhabdomyosarcoma",
"pos": [
127,
3
]
} |
To identify a key genetic factor in the pathogenesis of sarcoidosis, we investigated single nucleotide polymorphisms within 10 candidate genes involved in type 1 immune process ( IFNA17, IFNB, IFNG, IFNGR1, IFNGR2, IL12B, IL12RB1, IL12RB2, ETA-1, and NRAMP1) in an association-based study of 102 Japanese patients with sarcoidosis, 114 with tuberculosis, and 110 control subjects. | NA | {
"id": 3594,
"name": "IL12RB1",
"pos": [
222,
7
]
} | {
"id": "C0036202",
"name": "Sarcoidosis",
"pos": [
319,
11
]
} |
GO: Gene Ontology; ART: assisted reproductive technology; IVF: in vitro fertilization; ICSI: intra-cytoplasmic sperm injection; RNA-seq: RNA-sequencing; TIC: timed intercourse; IUI: intrauterine insemination; SRE: sperm RNA elements; HPA: Human Protein Atlas; SMDS: sedaghatian-type spondylometaphyseal dysplasia; DBA: Diamond-Blackfan anemia; RPKM: reads per kilobase per million; TPM: transcripts per million; IPA: Ingenuity Pathway Analysis; OMIM: Online Mendelian Inheritance in Man. | biomarker | {
"id": 23550,
"name": "PSD4",
"pos": [
153,
3
]
} | {
"id": "C1855229",
"name": "Spondylometaphyseal dysplasia, Sedaghatian type",
"pos": [
266,
46
]
} |
We treated 32 patients with Ph1-negative chronic myeloproliferative disorders (CMD) with excessive thrombocytosis with Interferon alpha-2b (IFN alpha-2b): 26 had essential thrombocythaemia, ET (18 previously untreated, eight pretreated); one thrombocythaemia after treatment for Hodgkin's disease (HD); two thrombocythaemia associated with non-Hodgkin's lymphoma (NHL); three stage II idiopathic myelofibrosis (IM). | NA | {
"id": 189,
"name": "AGXT",
"pos": [
28,
3
]
} | {
"id": "C0836924",
"name": "Thrombocytosis",
"pos": [
307,
16
]
} |
The miR-145/ FSCN1 axis contributes to the progression of cervical cancer by inhibition of cervical cancer cell proliferation. | biomarker | {
"id": 406937,
"name": "MIR145",
"pos": [
4,
7
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
58,
15
]
} |
As to the interaction between HMGA2 and p14(Arf) in benign tumorigenesis, we propose a model where akin to MSC self-renewal during tissue repair the simultaneous increase of p14(Arf) with HMGA2 ensures genomic stability, whereas in turn p14(Arf) can repress HMGA2 via TP53. | NA | {
"id": 9242,
"name": "MSC",
"pos": [
107,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
59,
13
]
} |
The role of fructose‑1,6‑bisphosphatase 1 in abnormal development of ovarian follicles caused by high testosterone concentration. | biomarker | {
"id": 2203,
"name": "FBP1",
"pos": [
12,
29
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
45,
20
]
} |
Clinical and biochemical parameters of GC sensitivity were measured: weight, height, waist to hip ratio, glucose, insulin, total cholesterol, high-density lipoprotein, and C-reactive protein. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
172,
18
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
69,
6
]
} |
To investigate the role of a functional polymorphism consisting of an aspartic acid (D) repeat located in the asporin gene (ASPN) gene in the susceptibility to and clinical outcome of ankylosing spondylitis (AS). | NA | {
"id": 54829,
"name": "ASPN",
"pos": [
124,
4
]
} | {
"id": "C0038013",
"name": "Ankylosing spondylitis",
"pos": [
184,
22
]
} |
Through site-specific mutagenesis in the 5'-flanking region of PFKFB4 gene the hypoxia response could be limited. | NA | {
"id": 5210,
"name": "PFKFB4",
"pos": [
63,
11
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
79,
7
]
} |
Multivariate survival analysis using the Cox's regression model revealed that non-responder by the RECIST (Hazard ratio (HR): 2.14 95%CI 1.06-4.19), upper third cancer (HR: 2.48 95%CI 1.12-5.49) and more advanced stage (HR: 4.12 95%CI 1.06-16.02) were predictive factors for worse OS, while the rs3746444 A allele carrier was predictive factor for better OS (HR: 0.33 95%CI 0.18-0.75). | NA | {
"id": 1351,
"name": "COX8A",
"pos": [
41,
5
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
47,
10
]
} |
Mice injected with the TR1 knockdown showed a dramatic reduction in tumor progression and metastasis compared with those mice injected with the corresponding control vector. | NA | {
"id": 80835,
"name": "TAS1R1",
"pos": [
23,
3
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
90,
10
]
} |
These results demonstrate that TRPV1 agonists prevent ischemia/reperfusion-induced renal dysfunction. | NA | {
"id": 7442,
"name": "TRPV1",
"pos": [
31,
5
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
54,
8
]
} |
Cells from Polq(-/-) mice are hypersensitive to radiation and peripheral blood cells display increased spontaneous and ionizing radiation-induced levels of micronuclei (a hallmark of gross chromosomal aberrations), though mice apparently develop normally. | NA | {
"id": 51426,
"name": "POLK",
"pos": [
11,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
189,
23
]
} |
Three hundred participants with bilateral large drusen (>125 μm) underwent color fundus photography (CFP), near-infrared reflectance (NIR), fundus autofluorescence (FAF), and spectral-domain optical coherence tomography (SD-OCT) imaging. | NA | {
"id": 5199,
"name": "CFP",
"pos": [
101,
3
]
} | {
"id": "C1260959",
"name": "Drusen",
"pos": [
48,
6
]
} |
A selective androgen receptor modulator that reduces prostate tumor size and prevents orchidectomy-induced bone loss in rats. | therapeutic | {
"id": 367,
"name": "AR",
"pos": [
12,
17
]
} | {
"id": "C0872084",
"name": "Sarcopenia",
"pos": [
107,
9
]
} |
In addition three different alpha(0)-thalassemia haplotypes, (--)MED, (--) > 26, and (alpha alpha)T, could be detected using alpha- and zeta-globin gene-specific probes. | NA | {
"id": 1298,
"name": "COL9A2",
"pos": [
65,
3
]
} | {
"id": "C0039730",
"name": "Thalassemia",
"pos": [
37,
11
]
} |
In this study, we mutated Akt-1 in Pten(-/-) ES cells to directly assess the role of AKT-1 in PTEN-controlled cellular processes, such as cell proliferation, cell survival, and tumorigenesis in nude mice. | NA | {
"id": 207,
"name": "AKT1",
"pos": [
85,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
177,
13
]
} |
p53 codon 72 Pro/Pro genotype could be a risk factor for the development of melanoma in the Greek population, especially in subgroups with darker skin pigmentation, as well as among noncarriers of the MC1R red hair polymorphic variants. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
0,
3
]
} | {
"id": "C0239803",
"name": "Red hair",
"pos": [
206,
8
]
} |
We recently reported on the development of a 4-protein-based classifier (PDCD4, CGN, G3BP2, and OCIAD1) capable of predicting outcome to tamoxifen treatment in recurrent, estrogen-receptor-positive breast cancer based on high-resolution MS data. | NA | {
"id": 57530,
"name": "CGN",
"pos": [
80,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
198,
13
]
} |
However, combination of CCL19/21 with CCL4 might be a reasonable approach in the future, particularly for DNA vaccination in Her2/neu+ breast cancer in the situation of minimal residual disease. | biomarker | {
"id": 6351,
"name": "CCL4",
"pos": [
38,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
135,
13
]
} |
Soluble MD-2 activity in plasma from patients with severe sepsis and septic shock. | NA | {
"id": 23643,
"name": "LY96",
"pos": [
8,
4
]
} | {
"id": "C0036983",
"name": "Septic Shock",
"pos": [
69,
12
]
} |
Reactivation of Snail genes in renal fibrosis and carcinomas: a process of reversed embryogenesis? | biomarker | {
"id": 6615,
"name": "SNAI1",
"pos": [
16,
5
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
50,
10
]
} |
We hypothesized that IL10 SNPs are associated with decreased regulatory T (Treg) cell numbers, TH2-skewed immune responses, and decreased IFN-γ levels in cord blood parallel with increased proinflammatory markers, subsequently leading to increased atopic diseases until 3 years. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
138,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
248,
6
]
} |
Further analyses suggested that an A-X CPT index of impulsivity partially mediated previously observed associations between hyperactive-impulsive ADHD symptoms and DAT1. | NA | {
"id": 55885,
"name": "LMO3",
"pos": [
164,
4
]
} | {
"id": "C0021125",
"name": "Impulsive Behavior",
"pos": [
52,
11
]
} |
Here, we identified FOXA1 and FOXA2 as important antagonists of the epithelial-to-mesenchymal transition (EMT) in pancreatic ductal adenocarcinoma (PDA) through their positive regulation of E-cadherin and maintenance of the epithelial phenotype. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
106,
3
]
} | {
"id": "C1335302",
"name": "Pancreatic Ductal Adenocarcinoma",
"pos": [
114,
32
]
} |
These diverse observations can be integrated into a transcendent mechanistic hypothesis for the pathogenesis of prostate cancer: normal prostate cells acquiring somatic GSTP1 defects may suffer chronic genome damage, influenced by dietary practices, that promote neoplastic transformation, while prostatic carcinoma cells, which characteristically contain defective GSTP1 alleles, remain susceptible to further genome-damaging stresses that promote malignant cancer progression. | NA | {
"id": 2950,
"name": "GSTP1",
"pos": [
366,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
263,
25
]
} |
CYP2C19 and PON1 Q192R variants influence ADP-induced platelet inhibition by thrombelastography (TEG) in ACS patients with clopidogrel. | genomic_alterations | {
"id": 5444,
"name": "PON1",
"pos": [
12,
4
]
} | {
"id": "C0742343",
"name": "Acute Chest Syndrome",
"pos": [
105,
3
]
} |
No influence of age, body mass index, or pulmonary or liver involvement on the FIR was found. | NA | {
"id": 9855,
"name": "FARP2",
"pos": [
79,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
21,
15
]
} |
The bleeding rate in patients carrying CYP2C19*17 allele, heterozygous (wt/*17) and homozygous (*17/*17), was higher than that in patients with wild-type homozygotes (wt/wt) (P<0.01). | NA | {
"id": 1557,
"name": "CYP2C19",
"pos": [
39,
7
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
4,
8
]
} |
Par-4 but not Bcl-2 was detected in the secretory epithelium of benign prostatic tumors and in primary and metastatic prostate cancers that are apt to undergo apoptosis. | biomarker | {
"id": 5074,
"name": "PAWR",
"pos": [
0,
5
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
118,
16
]
} |
qRT-PCR and immunohistochemistry of human specimens revealed that Slit2 was distinctly expressed by non-neoplastic neurons, but at only very low levels in fibrillary astrocytoma and glioblastoma. | NA | {
"id": 9353,
"name": "SLIT2",
"pos": [
66,
5
]
} | {
"id": "C0334582",
"name": "Fibrillary Astrocytoma",
"pos": [
155,
22
]
} |
Neutralizing antibodies (inhibitors) toward factor VIII form a severe complication in nonsevere hemophilia A, profoundly aggravating the bleeding pattern. | NA | {
"id": 2157,
"name": "F8",
"pos": [
44,
11
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
137,
8
]
} |
Taken together, our study demonstrated that FoxM1/ADAM17 feedback loop controlled the MES transition and regulated the progression of GBM, raising the possibility that deregulation of this loop might improve the durability of therapies in GBM. | biomarker | {
"id": 4199,
"name": "ME1",
"pos": [
86,
3
]
} | {
"id": "C1621958",
"name": "Glioblastoma Multiforme",
"pos": [
134,
3
]
} |
Conversely, p53 mutation is more often associated with nonendometrioid cancer; others being inactivation of p16 and/or overexpression of HER-2/neu. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
12,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
71,
6
]
} |
Hyperactivated epidermal growth factor receptor (EGFR) and/or RAS signaling drives cellular transformation and tumorigenesis in human lung cancers, but agents that block activated EGFR and RAS signaling have not yet been demonstrated to substantially extend patients' lives. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
180,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
111,
13
]
} |
A genetic variant in adiponutrin (PNPLA3) gene, rs738409 C/G, is associated with steatosis, severity, and progression of liver fibrosis in CHC patients, and predicts treatment outcome in difficult-to-cure HCV-infected patients with advanced fibrosis. | genomic_alterations | {
"id": 80339,
"name": "PNPLA3",
"pos": [
34,
6
]
} | {
"id": "C1861453",
"name": "Pseudohyperkalemia Cardiff",
"pos": [
139,
3
]
} |
Atp6v0a2 protein (P<0.05) and mRNA (P<0.05) in spermatozoa from infertile men were significantly lower than those from fertile men. | NA | {
"id": 23545,
"name": "ATP6V0A2",
"pos": [
0,
8
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
64,
9
]
} |
We studied the effect of HSV-2 co-infection in HIV-1-infected subjects, and show that HSV-2 co-infection results in a pan-lymphocytosis, with elevated absolute numbers of CD4(+) and CD8(+) T cells, and NK cells. | NA | {
"id": 920,
"name": "CD4",
"pos": [
171,
3
]
} | {
"id": "C0024282",
"name": "Lymphocytosis",
"pos": [
122,
13
]
} |
The t(10;14) chromosomal translocation of T-cell acute lymphoblastic leukemia joins the T-cell receptor delta gene to a region upstream of a diverged homeobox-containing gene called HOX11. | NA | {
"id": 3195,
"name": "TLX1",
"pos": [
182,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
13,
25
]
} |
Global histone acetylation levels (histone H3 lysine 9 acetylation [H3K9Ac], histone H3 lysine 18 acetylation [H3K18Ac], total histone H3 acetylation [H3Ac] and total histone H4 acetylation [H4Ac]) were determined in patients with renal cell carcinoma (RCC) using immunohistochemistry in a tissue micro array with 193 RCC and 10 oncocytoma specimens. | biomarker | {
"id": 8367,
"name": "H4C5",
"pos": [
167,
10
]
} | {
"id": "C1378050",
"name": "Oncocytic Neoplasm",
"pos": [
329,
10
]
} |
Osteopontin increases migration and MMP-9 up-regulation via alphavbeta3 integrin, FAK, ERK, and NF-kappaB-dependent pathway in human chondrosarcoma cells. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
96,
9
]
} | {
"id": "C0008479",
"name": "Chondrosarcoma",
"pos": [
133,
14
]
} |
Recently, UCP2 has been proposed to keep insulin secretion low during starvation, a function under the control of the transcription co-repressor, surtuin-1, which has been shown to bind to the UCP2 promoter. | NA | {
"id": 7351,
"name": "UCP2",
"pos": [
193,
4
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
70,
10
]
} |
environment, we found that adenovirus-mediated expression of REST-VP16, a recombinant transcription factor that can compete with REST/NRSF and activate REST/NRSF target genes instead of repressing them, blocked the i.c. | NA | {
"id": 5978,
"name": "REST",
"pos": [
157,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
27,
10
]
} |
Two ZNF652 (17q21.3) variants, rs116890317 and rs79670217, increased the risk of both sporadic and hereditary PrCa (rs116890317: OR = 3.3-7.8, p = 0.003-3.3 × 10(-5) ; rs79670217: OR = 1.6-1.9, p = 0.002-0.009). | NA | {
"id": 22834,
"name": "ZNF652",
"pos": [
4,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
86,
8
]
} |
We identified 37 novel mutations in known mitochondrial disease genes and 3 mitochondria-related genes (MRPS23, QRSL1, and PNPLA4) as novel causative genes. | NA | {
"id": 55278,
"name": "QRSL1",
"pos": [
112,
5
]
} | {
"id": "C0751651",
"name": "Mitochondrial Diseases",
"pos": [
42,
21
]
} |
In patients ≥60 years of age, the correct identification of characteristic CNS syndromes (FBDS, anti-IgLON5 syndrome, AE) should prompt antibody testing even without evidence of inflammation in MRI and CSF studies. | biomarker | {
"id": 1437,
"name": "CSF2",
"pos": [
202,
3
]
} | {
"id": "C0393639",
"name": "Hashimoto's encephalitis",
"pos": [
118,
2
]
} |
Validation of our findings in larger sample sizes of different ethnicities would provide evidence on the role of variants of PI3K/AKT/mTOR pathway in developing BC. | genomic_alterations | {
"id": 5290,
"name": "PIK3CA",
"pos": [
125,
4
]
} | {
"id": "C0699885",
"name": "Carcinoma of bladder",
"pos": [
161,
2
]
} |
We showed that transplantation of pigment epithelial cells overexpressing PEDF can restore a permissive subretinal environment for RPE and photoreceptor maintenance, while inhibiting choroidal blood vessel growth. | NA | {
"id": 6120,
"name": "RPE",
"pos": [
131,
3
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
34,
7
]
} |
Both FOXE1 and NKX2-1 were associated with the increased risk of sporadic Japanese PTC. | NA | {
"id": 2304,
"name": "FOXE1",
"pos": [
5,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
65,
8
]
} |
Most (74%) tumors had alterations in either MAPK (BRAF/HRAS/NF1) genes or ERBB2 Potentially targetable alterations based on supportive clinical evidence were present in 61% of tumors. | genomic_alterations | {
"id": 3265,
"name": "HRAS",
"pos": [
55,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
176,
6
]
} |
This finding and the fact that hepatocellular carcinoma (HCC) is a typical hypervascular tumor (M. Mise et al., Hepatology, 23: 455-464, 1996) imply that IGF-II may play an important role in the development of neovascularization of HCC. | NA | {
"id": 3481,
"name": "IGF2",
"pos": [
154,
6
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
210,
18
]
} |
In our per-SNP analysis, eight myopia gene associations were replicated successfully: GJD2, RASGRF1, BICC1, KCNQ5, CD55, CYP26A1, LRRC4C, and B4GALNT2.Seven additional gene associations were replicated in our gene-based analyses: GRIA4, BMP2, QKI, BMP4, SFRP1, SH3GL2, and EHBP1L1. | NA | {
"id": 254102,
"name": "EHBP1L1",
"pos": [
273,
7
]
} | {
"id": "C0027092",
"name": "Myopia",
"pos": [
31,
6
]
} |
The Notch1 signaling pathway might be involved in hypoxia-induced carcinoma metastasis. | NA | {
"id": 4851,
"name": "NOTCH1",
"pos": [
4,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
50,
7
]
} |
The disrupted in schizophrenia 1 (DISC1) gene is found at the breakpoint of an inherited chromosomal translocation, and segregates with major mental illnesses. | NA | {
"id": 27185,
"name": "DISC1",
"pos": [
34,
5
]
} | {
"id": "C0220702",
"name": "SCHIZOPHRENIA 1 (disorder)",
"pos": [
17,
15
]
} |
P53 positivity was also related to other indicators of aggressiveness including size of primary tumor, nuclear and nucleolar size, and estrogen and progesterone receptor content, but relationships between p53 and vascular invasion and lymph node metastasis were not found. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
205,
3
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
55,
14
]
} |
These results provide further evidence supporting the interaction between MAPT and LRRK2 genes, which increases the susceptibility to PD in Chinese individuals. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
83,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
134,
2
]
} |
One subject with blepharospasm and another with laryngeal dystonia harbored a c.-42C>T variant. | NA | {
"id": 6281,
"name": "S100A10",
"pos": [
81,
3
]
} | {
"id": "C1963946",
"name": "Laryngeal dystonia",
"pos": [
48,
18
]
} |
The aim of the present study was to determine whether the 5-HTR3A gene C178T polymorphism is associated with antipsychotic-induced TD in Korean schizophrenia patients. | genomic_alterations | {
"id": 3359,
"name": "HTR3A",
"pos": [
60,
5
]
} | {
"id": "C3714760",
"name": "Drug-induced tardive dyskinesia",
"pos": [
131,
2
]
} |
Northern blot analysis and in situ hybridization experiments showed that CARP mRNA is specifically induced by kainate-elicited seizures in the dentate gyrus and in the pyramidal layers CA1 and CA2, but not in CA3. | NA | {
"id": 760,
"name": "CA2",
"pos": [
193,
3
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
127,
8
]
} |
Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. | NA | {
"id": 3897,
"name": "L1CAM",
"pos": [
111,
5
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
148,
4
]
} |
These findings demonstrate that PDGF-BB and FGF2 reciprocally increase their EC and mural cell responses, leading to disorganized neovascularization and metastasis. | NA | {
"id": 2258,
"name": "FGF13",
"pos": [
44,
4
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
130,
18
]
} |
Coding variants of SCN2A, SCN8A, and SCN9A have also been identified in patients with seizures, ataxia, and sensitivity to pain, respectively. | NA | {
"id": 6326,
"name": "SCN2A",
"pos": [
19,
5
]
} | {
"id": "C0007758",
"name": "Cerebellar Ataxia",
"pos": [
96,
6
]
} |
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": 5036,
"name": "PA2G4",
"pos": [
85,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
165,
8
]
} |
This study aimed to characterize the TP53 mutational spectrum in patients suspected to have LFS in Portugal and to evaluate the influence of the MDM2-SNP309 and TP53-72Arg variants and of telomere length on age of tumor onset. | genomic_alterations | {
"id": 4193,
"name": "MDM2",
"pos": [
145,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
214,
5
]
} |
Therefore, the 12 BRCA1 methylated tumors represented 15% (12 of 81) of the sporadic cancers analyzed in this study. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
18,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
76,
8
]
} |
SUMO2/3-p65 interaction may be a novel mechanism involved in the transformation from chronic hepatitis B to HCC via stabilizing cytoplasmic p65, which might shed light on understanding the tumorigenesis and development. | NA | {
"id": 6613,
"name": "SUMO2",
"pos": [
0,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
189,
13
]
} |
The mTOR complex is an important component of the PI3K/Akt/mTOR signaling cascade and holds great promise for the treatment of hematopoietic malignancies. | biomarker | {
"id": 5291,
"name": "PIK3CB",
"pos": [
50,
4
]
} | {
"id": "C0376544",
"name": "Hematopoietic Neoplasms",
"pos": [
127,
26
]
} |
Subsets and Splits