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Here we report a de novo genomic microdeletion that includes the LINGO2 gene as well as two microRNA genes, MIR873 and MIR876, in a patient with craniofacial abnormalities - in particular macrocephaly and hypertelorism - and learning difficulties. | NA | {
"id": 100126316,
"name": "MIR873",
"pos": [
108,
6
]
} | {
"id": "C0020534",
"name": "Orbital separation excessive",
"pos": [
205,
13
]
} |
The observations that either deletion from the gastrin promoter of the putative binding sites for the transcription factor hypoxia-inducible factor 1 (HIF-1) or knockdown of either the HIF-1α or HIF-1β subunit did not affect gastrin promoter inducibility under hypoxia indicated that the hypoxic activation of the gastrin gene is likely HIF independent. | NA | {
"id": 2520,
"name": "GAST",
"pos": [
314,
12
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
288,
7
]
} |
We studied telomere length abnormalities, telomerase RNA component (TERC) expression, alpha-thalassemia X-linked mental retardation (ATRX) expression, and death domain-associated protein (DAXX) expression in gastroenteropancreatic neuroendocrine tumors (GEP-NETs). | NA | {
"id": 7012,
"name": "TERC",
"pos": [
68,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
27,
13
]
} |
Three therapeutic cancer vaccines are FDA approved and one is currently approved by the EMA as monotherapy with modest treatment effects. | biomarker | {
"id": 2108,
"name": "ETFA",
"pos": [
88,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
18,
6
]
} |
We found the cellular levels of four isoforms of the 14-3-3 protein family, 14-3-3 gamma, 14-3-3, 14-3-3 sigma, and 14-3-3 zeta, to be regulated by the two tuberous sclerosis gene products. | NA | {
"id": 2810,
"name": "SFN",
"pos": [
98,
12
]
} | {
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
156,
18
]
} |
In this study, we investigated the association of STR polymorphisms in genes encoding mast cell chymase (CMA1), uteroglobin (UGB), tumor necrosis factor-α (TNF-α) and interleukin-4 (IL-4) with asthma and atopic phenotypes in the large population-based Swiss Cohort Study SAPALDIA. | NA | {
"id": 7356,
"name": "SCGB1A1",
"pos": [
125,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
204,
6
]
} |
A total of 180 CF's patients were included in this study, which investigated polymorphisms in GCLC and GST genes (GCLC -129C>T and -3506A>G; GSTM1 and GSTT1 genes deletion, and GSTP1*+313A>G) by PCR and PCR-RFLP associating to clinical variables of CF severity, including variables of sex, clinical scores [Shwachman-Kulczycki, Kanga e Bhalla (BS)], body mass index, patient age, age for diagnosis, first clinical symptoms, first colonization by Pseudomonas aeruginosa, sputum's microorganisms, hemoglobin oxygen saturation in the blood, spirometry and comorbidities. | genomic_alterations | {
"id": 2729,
"name": "GCLC",
"pos": [
114,
4
]
} | {
"id": "C0010674",
"name": "Cystic Fibrosis",
"pos": [
258,
2
]
} |
The AA genotype of CCND1 showed a tendency to increase ALL risk 3.2898-fold compared with the AG + GG genotype (P = .0207). | genomic_alterations | {
"id": 595,
"name": "CCND1",
"pos": [
19,
5
]
} | {
"id": "C0751606",
"name": "Adult Acute Lymphocytic Leukemia",
"pos": [
55,
3
]
} |
Expression of phosphorylated cAMP response element binding protein (p-CREB) in bladder afferent pathways in VIP-/- mice with cyclophosphamide (CYP)-induced cystitis. | NA | {
"id": 27151,
"name": "CPAMD8",
"pos": [
108,
3
]
} | {
"id": "C0010692",
"name": "Cystitis",
"pos": [
156,
8
]
} |
EB1 and EB3 were specifically co-immunoprecipitated with AIPL1 from SK-N-SH neuroblastoma cells. | NA | {
"id": 56899,
"name": "ANKS1B",
"pos": [
0,
3
]
} | {
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
76,
13
]
} |
This study examined the impact of early undernutrition, followed by CD exposure, on blood pressure, hormones and genes important for insulin sensitivity and metabolism and skeletal muscle mRNA expression of adiponectin receptor 1 (AdipoR1), carnitine palmitoyl-transferase I (CPT-1), cytochrome c oxidase 4 (COX4) and peroxisome proliferator-activated receptor alpha (PPARalpha). | NA | {
"id": 56994,
"name": "CHPT1",
"pos": [
276,
3
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
133,
19
]
} |
Wnt-signaling hyperactivation, albeit in GSK-3β independent manner, differentiated colon cancer in claudin-3-/- mice versus WT-mice. | biomarker | {
"id": 1365,
"name": "CLDN3",
"pos": [
99,
9
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
83,
12
]
} |
Recombinant soluble human complement receptor type 1 inhibits inflammation in the reversed passive arthus reaction in rats. | biomarker | {
"id": 1378,
"name": "CR1",
"pos": [
26,
26
]
} | {
"id": "C0003907",
"name": "Arthus Reaction",
"pos": [
99,
15
]
} |
Ectopic expression of FOXP3 in mouse mammary cancer cells repressed SKP2 expression with a corresponding increase in p27 and polyploidy. | NA | {
"id": 50943,
"name": "FOXP3",
"pos": [
22,
5
]
} | {
"id": "C0032578",
"name": "Polyploidy",
"pos": [
125,
10
]
} |
The DARTS/MEMO (Diabetes Audit and Research Tayside/Medicines Monitoring Unit) collaboration database includes prescribing, biochemistry, and clinical phenotype of all patients with diabetes within Tayside, Scotland, from 1992. | NA | {
"id": 51072,
"name": "MEMO1",
"pos": [
10,
4
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
182,
8
]
} |
MicroRNA-21 promotes glioblastoma tumorigenesis by down-regulating insulin-like growth factor-binding protein-3 (IGFBP3). | NA | {
"id": 3486,
"name": "IGFBP3",
"pos": [
113,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
34,
13
]
} |
To date, two loci have been mapped in familial cases with autosomal dominant non-syndromic HGF: GINGF (MIM 135300) on chromosome 2p21-p22 and GINGF2 (MIM 605544) on chromosome 5q13-q22. | genomic_alterations | {
"id": 64644,
"name": "GINGF2",
"pos": [
142,
6
]
} | {
"id": "C0399440",
"name": "Hereditary gingival fibromatosis",
"pos": [
91,
3
]
} |
A de novo 4.4-Mb microdeletion in 2p24.3 → p24.2 in a girl with bilateral hearing impairment, microcephaly, digit abnormalities and Feingold syndrome. | NA | {
"id": 928,
"name": "CD9",
"pos": [
43,
3
]
} | {
"id": "C0025958",
"name": "Microcephaly",
"pos": [
94,
12
]
} |
FGFR2 signaling dysregulation due to the accumulation of epigenetic modifications and genetic alterations during chronic inflammation, smoking, increased caloric uptake, and decreased exercise leads to carcinogenesis. | NA | {
"id": 2263,
"name": "FGFR2",
"pos": [
0,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
135,
7
]
} |
Targeting hypoxia and angiogenesis through HIF-1alpha inhibition. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
43,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
10,
7
]
} |
Children with Noonan syndrome (NS) are at increased risk of developing juvenile myelomonocytic leukemia (JMML) or a myeloproliferative disorder associated with NS (MPD/NS) resembling JMML in the first weeks of life; whereas JMML is an aggressive disorder requiring hematopoietic stem cell transplantation, MPD/NS may resolve without treatment and cases with spontaneous remission have also been reported. | genomic_alterations | {
"id": 4597,
"name": "MVD",
"pos": [
164,
3
]
} | {
"id": "C1292778",
"name": "Chronic myeloproliferative disorder",
"pos": [
116,
27
]
} |
In order to analyze involvement of major histocompatibility complex class I chain-related gene A (MICA) and tumor necrosis factor a (TNFa) microsatellite polymorphisms as well as TNFB gene in juvenile idiopathic arthritis (JIA), we studied 128 patients divided into groups according to clinical features [monoarthritis (n = 14), oligoarthritis (n = 58), polyarthritis (n = 50), and systemic (n = 6)], and 114 age- and sex-matched healthy controls from Latvia. | NA | {
"id": 100507436,
"name": "MICA",
"pos": [
98,
4
]
} | {
"id": "C3892044",
"name": "Oligoarticular Arthritis",
"pos": [
329,
14
]
} |
In general, genes encoding cytokines are genetically polymorphic and polymorphisms in genes IL23R el IL17F were shown associated with susceptibility to Crohn's disease and ulcerative colitis which in their turn are considered as risk factors for developing colorectal cancer (CRC). | genomic_alterations | {
"id": 112744,
"name": "IL17F",
"pos": [
101,
5
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
152,
15
]
} |
Moreover, Kaplan-Meier survival analysis showed a poor overall survival rate in patients with USP4-overexpressing tumors. | biomarker | {
"id": 7375,
"name": "USP4",
"pos": [
94,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
114,
6
]
} |
The most frequent molecular abnormality observed in dermatofibrosarcoma protuberans (DFSP) is the formation of a supernumerary ring chromosome or translocation resulting in fusion of the gene encoding the alpha-chain of type 1 collagen, COL1A1 from 17q22, to the platelet-derived growth factor beta-chain, PDGFB gene from 22q13. | genomic_alterations | {
"id": 5155,
"name": "PDGFB",
"pos": [
306,
5
]
} | {
"id": "C0392784",
"name": "Dermatofibrosarcoma Protuberans",
"pos": [
52,
31
]
} |
TGF-beta isoforms and their receptors have been implicated as mediators of the healing process and adhesion development. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
0,
8
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
99,
8
]
} |
Wnt and SHH in prostate cancer: trouble mongers occupy the TRAIL towards apoptosis. | biomarker | {
"id": 8743,
"name": "TNFSF10",
"pos": [
59,
5
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
15,
15
]
} |
In 18 families with HNPCC as well as in 18 with suspected HNPCC, microsatellite instability in tumour tissues and constitutional mutations of two DNA mismatch repair genes (MSH2 and MLH1) could be evaluated. | NA | {
"id": 4292,
"name": "MLH1",
"pos": [
182,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
65,
26
]
} |
Here, we describe the first human case of CDKN1B deficiency, which recapitulates features of the murine CDKN1B knockout mouse model, including gigantism and neurodevelopmental defects. | NA | {
"id": 1027,
"name": "CDKN1B",
"pos": [
104,
6
]
} | {
"id": "C0017547",
"name": "Gigantism",
"pos": [
143,
9
]
} |
It is the only known aminopeptidase in the family and is reported to be involved in cancer and other major diseases. | biomarker | {
"id": 10404,
"name": "CPQ",
"pos": [
21,
14
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
84,
6
]
} |
Previous studies have shown that serine hyperphosphorylation of P450c17 increases the enzyme's 17,20-lyase activity, thereby favoring androgen production, and that serine phosphorylation of the insulin receptor beta-chain (IR-beta) inhibits IR-beta tyrosine phosphorylation, causing insulin resistance in vitro. | NA | {
"id": 1586,
"name": "CYP17A1",
"pos": [
64,
7
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
283,
18
]
} |
Anti-moesin antibodies in the serum of patients with aplastic anemia stimulate peripheral blood mononuclear cells to secrete TNF-alpha and IFN-gamma. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
139,
3
]
} | {
"id": "C0002874",
"name": "Aplastic Anemia",
"pos": [
53,
15
]
} |
Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
35,
3
]
} | {
"id": "C0424605",
"name": "Developmental delay (disorder)",
"pos": [
220,
19
]
} |
The transcription factor forkhead box O3 (FoxO3) induces MuRF-1 expression, but the direct role of other major atrophy-related transcription factors, such as SMAD3, is largely unknown. | NA | {
"id": 2309,
"name": "FOXO3",
"pos": [
43,
5
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
112,
7
]
} |
Here, we investigated 6 related patients with autosomal recessive growth retardation, adrenal insufficiency, and a selective NK cell deficiency characterized by a lack of the CD56(dim) NK subset. | NA | {
"id": 4684,
"name": "NCAM1",
"pos": [
175,
4
]
} | {
"id": "C0001623",
"name": "Adrenal gland hypofunction",
"pos": [
86,
21
]
} |
We conclude that the TnT-I79N mutation causes stress-induced VT even in absence of hypertrophy and/or fibrosis, arising possibly from the combination of AP remodeling related to altered Ca2+ transients and suppression of IK1. | NA | {
"id": 10320,
"name": "IKZF1",
"pos": [
221,
3
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
83,
11
]
} |
These findings suggest a new therapeutic approach to pulmonary fibrosis by specifically uncoupling CBP/catenin-dependent signaling downstream of TGF-β. | NA | {
"id": 1387,
"name": "CREBBP",
"pos": [
99,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
63,
8
]
} |
Northern analysis using a 32P-labeled cDNA probe for the IL 2R p55 protein demonstrated that blood T cells of patients with active sarcoidosis, but not of normal patients, express 3.5- and 1.5-kb IL 2R mRNA transcripts, the same as those observed in normal T cells activated in vitro. | biomarker | {
"id": 8503,
"name": "PIK3R3",
"pos": [
63,
3
]
} | {
"id": "C0036202",
"name": "Sarcoidosis",
"pos": [
131,
11
]
} |
This communication presents a brief review of the spectrum of MDM2 abnormalities in human tumors and compares the tissue distribution of MDM2 amplification and p53 mutation frequencies. | NA | {
"id": 4193,
"name": "MDM2",
"pos": [
137,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
67,
13
]
} |
N-terminally PEGylated human interferon-beta-1a with improved pharmacokinetic properties and in vivo efficacy in a melanoma angiogenesis model. | therapeutic | {
"id": 3456,
"name": "IFNB1",
"pos": [
29,
18
]
} | {
"id": "C0004565",
"name": "Melanoma, B16",
"pos": [
115,
8
]
} |
We compared the rates of actual survival in patients prospectively followed for up to 3.5 years in four double-blind, randomized trials and their open-label extension studies with predicted survival calculated using the PHC equation [(P(t) = e((-A(x,y,z)t)), A(x,y,z) = e((-1.270-0.0148x + 0.0402y - 0.361z)), where P(t) is the probability of survival, t the time interval in years, x the mean pulmonary artery pressure, y the mean right atrial pressure, and z the cardiac index] and the French equation in patients with idiopathic, heritable, and anorexigen-associated PAH (n = 449). | NA | {
"id": 5250,
"name": "SLC25A3",
"pos": [
220,
3
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
111,
5
]
} |
Doxorubicin treatment resulted in heavy proteinuria (>100 mg protein/mg crea) in 15/44 of sgk1(+/+) and 15/44 of sgk1(-/-) mice leading to severe nephrotic syndrome with ascites, lipidemia, and hypoalbuminemia in both genotypes. | NA | {
"id": 6446,
"name": "SGK1",
"pos": [
113,
4
]
} | {
"id": "C0027726",
"name": "Nephrotic Syndrome",
"pos": [
146,
18
]
} |
Significantly higher levels of miR-140-5p, miR-194 and miR-423-5p (the last of which harbours the single-nucleotide polymorphism rs6505162) were seen in the breast tumours of Nigerian patients when compared with other ethnic groups (all p < 0.0001). miR-101 was overexpressed in breast cancers in the Indian patients. | genomic_alterations | {
"id": 494335,
"name": "MIR423",
"pos": [
55,
7
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
282,
14
]
} |
However, after the mild S-phase, the increase of c-myc was more marked than the tyrosine phosphorylation level, whereas p53 protein remained stable, with a slight tendency to decrease. | NA | {
"id": 4609,
"name": "MYC",
"pos": [
49,
5
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
19,
4
]
} |
This suggested that the translocation partner of the ALK gene in this case was different from NPM (variant translocation). | NA | {
"id": 4869,
"name": "NPM1",
"pos": [
94,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
107,
13
]
} |
We previously found that a long non-coding RNA, the plasmacytoma variant translocation 1 (PVT1), increases plasminogen activator inhibitor 1 (PAI-1) and transforming growth factor beta 1 (TGF-β1) in mesangial cells, the two main contributors to ECM accumulation in the glomeruli under hyperglycemic conditions, as well as fibronectin 1 (FN1), a major ECM component. | NA | {
"id": 5054,
"name": "SERPINE1",
"pos": [
107,
33
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
73,
13
]
} |
injection of KBP resulted in growth inhibition of both heterotopic and orthotopic gastric carcinoma xenografts at 61.4% and 52.3%, respectively. | NA | {
"id": 26128,
"name": "KIFBP",
"pos": [
13,
3
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
82,
17
]
} |
Thus, the results suggested that reduction to homozygosity of the 1q region containing the maternal LAMB3 mutation caused the H-JEB phenotype. | genomic_alterations | {
"id": 3914,
"name": "LAMB3",
"pos": [
100,
5
]
} | {
"id": "C0079301",
"name": "Junctional Epidermolysis Bullosa",
"pos": [
128,
3
]
} |
Drusenlike deposits were more selectively observed in patients with mutations in the AIPL1, CRB1, RPE65, and RPGRIP1 genes, whereas focal regions of peripheral chorioretinal atrophy were observed only in patients with AIPL1 or RPE65 variations. | NA | {
"id": 57096,
"name": "RPGRIP1",
"pos": [
109,
7
]
} | {
"id": "C4048273",
"name": "Chorioretinal atrophy",
"pos": [
160,
21
]
} |
Recently, imbalance in the vasopressin (AVP) system, measured as elevated levels of copeptin (the C-terminal part of the AVP pro-hormone) in plasma, was linked to the development of abdominal obesity and diabetes mellitus (DM). | NA | {
"id": 551,
"name": "AVP",
"pos": [
121,
3
]
} | {
"id": "C0311277",
"name": "Obesity, Abdominal",
"pos": [
182,
17
]
} |
Study of the catechol-o-methyltransferase (COMT) gene with high aggression in children. | NA | {
"id": 1312,
"name": "COMT",
"pos": [
43,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
64,
10
]
} |
Alterations in the PIK3CA and PTEN genes were assessed in 40 prostate tumors (radical prostatectomy samples). | genomic_alterations | {
"id": 5728,
"name": "PTEN",
"pos": [
30,
4
]
} | {
"id": "C0033578",
"name": "Prostatic Neoplasms",
"pos": [
61,
15
]
} |
EGFR mutations and tumor metastases in patients with nonsmall cell lung cancer in the South of Russia. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
0,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
19,
5
]
} |
For the assessment of heterogeneity after CRT residual tumor tissue (85 samples) from 12 patients (mean 4.2 tissue samples per patient) were analyzed (post-therapeutic intratumoral heterogeneity) and assessment of heterogeneity before and after CRT was evaluated in corresponding patient samples (interventional heterogeneity). | NA | {
"id": 811,
"name": "CALR",
"pos": [
245,
3
]
} | {
"id": "C0543478",
"name": "Residual Tumor",
"pos": [
46,
14
]
} |
Different genomic rearrangements and alternative splicing events around the junction region lead to multiple combination of Tmprss2:ERG fusion transcripts that correlate with different tumor aggressiveness, but their specific functions and biological activities are still unclear. | NA | {
"id": 7113,
"name": "TMPRSS2",
"pos": [
124,
7
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
191,
14
]
} |
miR-122-SP also knocked down endogenous miR-122 expression in Huh7 and promoted tumorigenesis in vivo. | NA | {
"id": 406906,
"name": "MIR122",
"pos": [
40,
7
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
80,
13
]
} |
Our data clearly indicate that GPR109A mediates nicotinic acid-induced flushing and that this effect involves release of PGE(2) and PGD(2), most likely from immune cells of the skin. | NA | {
"id": 5226,
"name": "PGD",
"pos": [
132,
3
]
} | {
"id": "C0016382",
"name": "Flushing",
"pos": [
71,
8
]
} |
We conclude that an intestinal sensitivity to gliadin, in connection with COX inhibition, caused a decreased villus height in DQ8 tg mice. | NA | {
"id": 1351,
"name": "COX8A",
"pos": [
74,
3
]
} | {
"id": "C0489786",
"name": "Height",
"pos": [
116,
6
]
} |
Experimental OA was induced in rats by intraarticular injection of sodium mono-iodoacetate (MIA), and the development of pain behavior was assessed. | NA | {
"id": 8190,
"name": "MIA",
"pos": [
92,
3
]
} | {
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
74,
4
]
} |
Genome-wide, high-resolution array-CGH was used to screen for genomic aberrations in endometriosis. | biomarker | {
"id": 3342,
"name": "HTC2",
"pos": [
35,
3
]
} | {
"id": "C0014175",
"name": "Endometriosis",
"pos": [
85,
13
]
} |
The aim of this study was to investigate changes in the hippocampal expression of three different connexins at consecutive developmental stages after acute hypoxia at P10 (10min and 30min after reoxygenation, P11, P14, P17, P29, and P45) as compared to sham manipulated pups. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
209,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
156,
7
]
} |
Whilst bi-allelic GBA mutations cause Gaucher disease, both mono- and bi-allelic mutations confer risk for Parkinson's disease. | NA | {
"id": 2629,
"name": "GBA",
"pos": [
18,
3
]
} | {
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
60,
4
]
} |
Consequently, Bcl10-deficient mice are protected from hepatic NF-kB activation and insulin resistance following brief high-fat diet, suggesting that Bcl10 plays a major role in the metabolic consequences of acute overnutrition. | NA | {
"id": 8915,
"name": "BCL10",
"pos": [
14,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
83,
18
]
} |
Whereas the brain malformation due to LIS1 mutations was more severe over the parietal and occipital regions, XLIS mutations produced the reverse gradient, which was more severe over the frontal cortex. | genomic_alterations | {
"id": 5048,
"name": "PAFAH1B1",
"pos": [
38,
4
]
} | {
"id": "C0266449",
"name": "Congenital anomaly of brain",
"pos": [
12,
18
]
} |
WWP1 gene is a potential molecular target of human oral cancer. | NA | {
"id": 11059,
"name": "WWP1",
"pos": [
0,
9
]
} | {
"id": "C0220641",
"name": "Lip and Oral Cavity Carcinoma",
"pos": [
51,
11
]
} |
Occurrence of PATE in patients less than 40 years of age who suffer from an idiopathic type of venous thrombosis and have a family background of thrombophilic conditions, which requires a detailed hematological examination, is a predictor of unfavorable course of PATE in the post-hospital period. | NA | {
"id": 160065,
"name": "PATE1",
"pos": [
264,
4
]
} | {
"id": "C0042487",
"name": "Venous Thrombosis",
"pos": [
95,
17
]
} |
Clinical manifestations, including macroscopic hematuria, cataracts and leiomyomatosis caused by the large deletion involving COL4A5 to COL4A6, led to early presentation with AS. | NA | {
"id": 1287,
"name": "COL4A5",
"pos": [
126,
6
]
} | {
"id": "C0473237",
"name": "Frank hematuria",
"pos": [
35,
21
]
} |
Disease-causing genetic abnormalities were identified in each of the seven VHL families and in 3 out of the 37 patients with ASP (one nonsense and six missense mutations, two large gene deletions and one novel 2 bp deletion). | NA | {
"id": 29974,
"name": "A1CF",
"pos": [
125,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
24,
13
]
} |
Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
146,
3
]
} | {
"id": "C0020619",
"name": "Hypogonadism",
"pos": [
280,
12
]
} |
The study included 45 patients (mean age 71.9 ± 9.0 years; M/F, 30/15) who underwent endoscopic submucosal dissection (ESD) for gastric cancer, followed by standard dose of oral proton-pump inhibitor for 4 weeks. | NA | {
"id": 2098,
"name": "ESD",
"pos": [
119,
3
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
128,
14
]
} |
SAC morphology was observed in 38% of MACs, and was associated with proximal location (P=0.001), BRAF mutation (P=0.042), CIMP-positive status (P=0.023), and contiguous traditional serrated adenoma (P=0.019). | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
97,
4
]
} | {
"id": "C1707439",
"name": "Colorectal Mucinous Adenocarcinoma",
"pos": [
38,
3
]
} |
15-LOX-1 suppression of hypoxia-induced metastatic phenotype and HIF-1α expression in human colon cancer cells. | NA | {
"id": 246,
"name": "ALOX15",
"pos": [
0,
8
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
24,
7
]
} |
Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disorder caused by mutations of SLC25A13 gene encoding citrin and is characterized by recurrent encephalopathy with hyperammonemia. | NA | {
"id": 10165,
"name": "SLC25A13",
"pos": [
100,
13
]
} | {
"id": "C1850719",
"name": "Recurrent encephalopathy",
"pos": [
154,
24
]
} |
PBC is a chronic progressive autoimmune disorder involving the destruction of intrahepatic small bile ducts, cholestasis, fibrosis, and ultimately cirrhosis if left untreated. | biomarker | {
"id": 1737,
"name": "DLAT",
"pos": [
0,
3
]
} | {
"id": "C1623038",
"name": "Cirrhosis",
"pos": [
147,
9
]
} |
Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history. | genomic_alterations | {
"id": 10939,
"name": "AFG3L2",
"pos": [
27,
6
]
} | {
"id": "C0393525",
"name": "Progressive cerebellar ataxia",
"pos": [
68,
18
]
} |
Barrel rotations accompanied convulsions in P25 and adult, but sparsely in P15 rats. | genomic_alterations | {
"id": 10573,
"name": "MRPL28",
"pos": [
75,
3
]
} | {
"id": "C4048158",
"name": "Convulsions",
"pos": [
29,
11
]
} |
Involvement of capsaicin-sensitive afferent nerves and cholecystokinin 2/gastrin receptors in gastroprotection and adaptation of gastric mucosa to Helicobacter pylori-lipopolysaccharide. | therapeutic | {
"id": 885,
"name": "CCK",
"pos": [
55,
15
]
} | {
"id": "C0038358",
"name": "Gastric ulcer",
"pos": [
115,
10
]
} |
STZ-induced male diabetic Wistar rats were treated with vehicle (the STZ group, n=7), or spironolactone (the STZ+SPL group, n=6) for 12 weeks, six additional rats of similar body weight serving as control. | NA | {
"id": 6484,
"name": "ST3GAL4",
"pos": [
109,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
174,
11
]
} |
In S100A9-knockout mice, we found a major impact of S100A8 and S100A9 on synovial activation (62% inhibition) and OA cartilage destruction (45-73% inhibition) as compared to wild-type controls. | NA | {
"id": 6280,
"name": "S100A9",
"pos": [
3,
6
]
} | {
"id": "C4021973",
"name": "Cartilage destruction",
"pos": [
117,
21
]
} |
Rearrangement of the breakpoint cluster region (bcr) was detected in 11 of the 23 patients with Ph-negative CML (48 percent), indicating the presence of the abnormal molecular events in Ph-positive CML without documentation of the Ph cytogenetic abnormality. | NA | {
"id": 613,
"name": "BCR",
"pos": [
21,
25
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
234,
23
]
} |
X11alpha may be involved in APP trafficking and metabolism in neurons and thus may be implicated in amyloidogenesis in normal aging and Alzheimer's disease brain. | NA | {
"id": 351,
"name": "APP",
"pos": [
28,
3
]
} | {
"id": "C0001811",
"name": "Aging",
"pos": [
126,
5
]
} |
Here using in vivo models of experimental colitis we report that inflammation causes enteric neuron death by activating a neuronal signaling complex composed of P2X7 receptors (P2X7Rs), pannexin-1 (Panx1) channels, the Asc adaptor protein and caspases. | NA | {
"id": 24145,
"name": "PANX1",
"pos": [
198,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
65,
12
]
} |
We identified 49 samples from 46 hematology patients with 11p15 (including a few with 11p14) abnormalities, and using fluorescence in situ hybridization (FISH), we found that NUP98 was disrupted in 7 cases. | NA | {
"id": 4928,
"name": "NUP98",
"pos": [
175,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
93,
13
]
} |
Hypoxia inducible factors, including HIF1A and HIF2A, play central roles in response to high-altitude hypoxia and genetic variants of HIF1A or HIF2A were associated with high-altitude sickness or adaptation. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
134,
5
]
} | {
"id": "C0002351",
"name": "Altitude Sickness",
"pos": [
175,
17
]
} |
Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations. | NA | {
"id": 7450,
"name": "VWF",
"pos": [
275,
3
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
94,
8
]
} |
These preclinical data are the first report of a smaller dysferlin variant tailored for AAV single particle delivery that restores motor function and, therefore, represents an attractive candidate for the treatment of dysferlinopathy. | genomic_alterations | {
"id": 8291,
"name": "DYSF",
"pos": [
57,
9
]
} | {
"id": "C2931687",
"name": "Dysferlinopathy",
"pos": [
218,
15
]
} |
In patients with gastric cancer, downregulation of hMOF was connected to gastric cancer and tissues with pT2-T4 tumor status, lymph node metastasis and distant metastasis. | NA | {
"id": 84148,
"name": "KAT8",
"pos": [
51,
4
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
73,
14
]
} |
Therefore we propose that SPLUNC1 suppresses NPC tumor formation and its inhibition by LMP1 provides a route for NPC tumorigenesis. | NA | {
"id": 9260,
"name": "PDLIM7",
"pos": [
87,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
117,
13
]
} |
Ploidy and SPF were combined to define the categories of favorable (diploid, low SPF) and unfavorable (diploid, high SPF or any aneuploid subgroups). | NA | {
"id": 23541,
"name": "SEC14L2",
"pos": [
117,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
128,
9
]
} |
Hence, this study aims to explore the function of miR-383-3p targeting IL1R2 on inflammatory injury of coronary artery endothelial cells (CAECs) in CAS. | biomarker | {
"id": 7850,
"name": "IL1R2",
"pos": [
71,
5
]
} | {
"id": "C0750927",
"name": "Apraxia, Developmental Verbal",
"pos": [
148,
3
]
} |
Patients with severe combined immune deficiency (SCID) suffer from defective T-cell Ca2+ signaling. | NA | {
"id": 760,
"name": "CA2",
"pos": [
84,
3
]
} | {
"id": "C0085110",
"name": "Severe Combined Immunodeficiency",
"pos": [
14,
33
]
} |
Elevated HO-1 expression was associated with increased expression of cardiac endothelial nitric oxide synthase, B-cell leukemia/lymphoma extra long, and phospho activator protein kinase levels and decreased levels of inducible nitric oxide synthase and malondialdehyde. | NA | {
"id": 4846,
"name": "NOS3",
"pos": [
77,
33
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
128,
8
]
} |
Homozygous variants in PGAP1 (post-GPI attachment to proteins 1) have recently been identified in two families with developmental delay, seizures and/or spasticity. | NA | {
"id": 80055,
"name": "PGAP1",
"pos": [
30,
33
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
137,
8
]
} |
We demonstrate that in the aggressive PC3 cell line, adhesion to fibronectin via beta1 integrins results in up-regulation of survivin and protection from apoptosis induced by tumor necrosis factor-alpha (TNF-alpha). | NA | {
"id": 7124,
"name": "TNF",
"pos": [
204,
9
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
53,
8
]
} |
How abnormal Ca2+ influx through CaV1.2 underlies phenotypes such as the accompanying syndactyly or craniofacial abnormalities in the majority of affected individuals is not readily explained by established CaV1.2 roles. | NA | {
"id": 760,
"name": "CA2",
"pos": [
14,
3
]
} | {
"id": "C0376634",
"name": "Craniofacial Abnormalities",
"pos": [
101,
26
]
} |
The present study confirms that the LRRK2 Gly2385Arg variant is a risk factor for sporadic PD. | NA | {
"id": 120892,
"name": "LRRK2",
"pos": [
36,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
82,
8
]
} |
Although 24-hour blood pressure, measured with a sensitive method, in a small sample of CD300LG rs72836561 CT-carriers was higher than in CC-carriers, this did not translate into significant differences in office blood pressure in a larger cohort. | NA | {
"id": 146894,
"name": "CD300LG",
"pos": [
88,
7
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
213,
14
]
} |
Among hyperthermia treated rats, the Camk2d G allele was more frequent among rats that did not display behavioral seizures during hyperthermia (67%) than in animals that did show behavioral seizures during hyperthermia (52%, chi(2)(1)=3.847, p=0.05). | NA | {
"id": 817,
"name": "CAMK2D",
"pos": [
37,
6
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
190,
8
]
} |
Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder characterised by early onset seizures, progressive microcephaly and developmental delay. | genomic_alterations | {
"id": 57038,
"name": "RARS2",
"pos": [
36,
5
]
} | {
"id": "C0424605",
"name": "Developmental delay (disorder)",
"pos": [
198,
19
]
} |
We studied a unique cohort of 21 primary lung cancers with matched adrenal metastases for the expression of CX3CR1, CXCR4, CCR6, and CCR7, using immunohistochemistry. | NA | {
"id": 1236,
"name": "CCR7",
"pos": [
133,
4
]
} | {
"id": "C0854178",
"name": "Metastases to adrenals",
"pos": [
67,
18
]
} |