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|---|---|---|---|
In sporadic ALS cases, elevated D-serine may arise from induction of serine racemase, its synthetic enzyme, caused by cell stress and inflammatory processes thought to contribute to disease progression. | NA | {
"id": 63826,
"name": "SRR",
"pos": [
69,
15
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
3,
8
]
} |
Based on this hypothesis, the relationship between APE1 polymorphism, smoking and the risk of lung cancer was explored. | NA | {
"id": 328,
"name": "APEX1",
"pos": [
51,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
70,
7
]
} |
Here, we provided direct evidence for the negative role of CYLD in NTHi-induced inflammation of the mice in vivo. | NA | {
"id": 1540,
"name": "CYLD",
"pos": [
59,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
80,
12
]
} |
We studied activated mutations of K-ras gene in three forms of colorectal tumors, i.e., 45 specimens of colorectal adenoma (CA), 10 of 'cancer in adenoma' (CIA), and 24 of colorectal cancer (CC), and in 15 of gastric cancer (GC) as controls. | NA | {
"id": 25842,
"name": "ASF1A",
"pos": [
156,
3
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
209,
14
]
} |
Macrophage migration inhibitory factor (MIF) is a potent proinflammatory mediator that participates in the pathogenesis of endotoxemia and experimental crescentic glomerulonephritis. | NA | {
"id": 4282,
"name": "MIF",
"pos": [
40,
3
]
} | {
"id": "C0403416",
"name": "Idiopathic crescentic glomerulonephritis",
"pos": [
152,
29
]
} |
Compared with FHIT T/ T, odds ratio (95% confidence interval) for FHIT C/C was 1.4 (0.8-2.5) for invasive cervical cancer and 1.7 (0.9-3.1) for cervical intraepithelial neoplasia (CIN) II or III. | NA | {
"id": 2272,
"name": "FHIT",
"pos": [
66,
4
]
} | {
"id": "C1334177",
"name": "Infiltrating Cervical Carcinoma",
"pos": [
97,
24
]
} |
In order to determine the effect of dantrolene, a ryanodine receptor antagonist, on ER stress response and ischemic brain injury, we investigated changes in ER stress-related molecules, that is phosphorylated form of double-stranded RNA-activated protein kinase (PKR)-like ER kinase (p-PERK), phosphorylated form of eukaryotic initiation factor 2alpha (p-eIF2alpha), activating transcription factor-4 (ATF-4), and C/EBP-homologous protein (CHOP), as well as terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) in the peri-ischemic area and ischemic core region of rat brain after transient middle cerebral artery occlusion (MCAO). | NA | {
"id": 9451,
"name": "EIF2AK3",
"pos": [
286,
4
]
} | {
"id": "C0740391",
"name": "Middle Cerebral Artery Occlusion",
"pos": [
616,
32
]
} |
The expression of stratifin, prohibitin, and SCCA1 dropped with increasing dedifferentiation of ESCC. | NA | {
"id": 6317,
"name": "SERPINB3",
"pos": [
45,
5
]
} | {
"id": "C0002793",
"name": "Anaplasia",
"pos": [
75,
17
]
} |
Further experiments indicated that mild acidosis activated the transcription factors NF-kappaB and AP-1 and that the cooperation of these two factors appeared to be essential to the transactivation of the IL-8 gene. | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
205,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
35,
4
]
} |
Genetic associations between autophagy genes and asthma have been observed including single nucleotide polymorphisms in Atg5 which correlate with reduced lung function. | genomic_alterations | {
"id": 9474,
"name": "ATG5",
"pos": [
120,
4
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
49,
6
]
} |
In conclusion, we described a new PARKIN truncating mutation associated with an early onset parkinsonism, and the presence of foot dystonia as the initial symptom. | genomic_alterations | {
"id": 5071,
"name": "PRKN",
"pos": [
34,
6
]
} | {
"id": "C0393593",
"name": "Dystonia Disorders",
"pos": [
131,
8
]
} |
To determine the physiological function of TRAIL in the context of flavivirus infection, we compared the pathogenesis of WNV in wild-type and TRAIL(-/-) mice. | NA | {
"id": 8743,
"name": "TNFSF10",
"pos": [
142,
5
]
} | {
"id": "C0206608",
"name": "Flavivirus Infections",
"pos": [
67,
20
]
} |
In this study we demonstrate that a novel chimeric serotype adenovirus, Ad.5/3-mda-7, displays greater efficacy in delivering mda-7/IL-24 compared with Ad.5-mda-7, although overall translation of the protein still remains low. | NA | {
"id": 11009,
"name": "IL24",
"pos": [
132,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
60,
10
]
} |
Therefore, Notch3 might be a useful biomarker to predict the prognosis of patients with NSCLC. | biomarker | {
"id": 4854,
"name": "NOTCH3",
"pos": [
11,
6
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
88,
5
]
} |
These results suggest that miR-210 expression in PC cells is induced by hypoxia through a HIF-1alpha-dependent pathway, but does not influence PC cell proliferation. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
90,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
72,
7
]
} |
In first applications of Limes, genomic sequences and/or transcripts of genes involved in the regulation of transcription, such as transforming growth factor beta stimulated clone 22 related gene (TSC-22R), cell death and cytokine production (caspase-1) or antigen presentation (HLA class II sequences), were found to be completely absent in a cutaneous lymphoma line. | biomarker | {
"id": 834,
"name": "CASP1",
"pos": [
243,
9
]
} | {
"id": "C1302772",
"name": "Primary cutaneous lymphoma",
"pos": [
344,
18
]
} |
In contrast to the profound muscle wasting that characterizes advanced DM, only minor histopathological abnormalities have occurred in DMPK knockout mice or in mice that overexpress a human DMPK transgene, making it unlikely that changes in DMPK activity provide a unitary explanation for the disease. | NA | {
"id": 1760,
"name": "DMPK",
"pos": [
241,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
104,
13
]
} |
In human cancers, increased CHCHD4 expression was found to correlate with the hypoxia gene expression signature, increasing tumor grade, and reduced patient survival. | NA | {
"id": 131474,
"name": "CHCHD4",
"pos": [
28,
6
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
9,
7
]
} |
Novel mutations in ATPase 8, ND1 and ND5 genes associated with peripheral neuropathy of diabetes. | NA | {
"id": 10625,
"name": "IVNS1ABP",
"pos": [
29,
3
]
} | {
"id": "C4721453",
"name": "Peripheral Nervous System Diseases",
"pos": [
63,
21
]
} |
These results confirm a disturbance of cardiac autonomic regulation in CCHS, indicate that PHOX2B genotype is related to the severity of dysregulation, predict the need for cardiac pacemaker, and offer the clinician the potential to avert sudden death. | NA | {
"id": 8929,
"name": "PHOX2B",
"pos": [
91,
6
]
} | {
"id": "C0011071",
"name": "Sudden death",
"pos": [
239,
12
]
} |
We propose that canonical and noncanonical Wnt pathways have complementary roles in HCC, where the canonical signaling contributes to tumor initiation, and noncanonical signaling to tumor progression. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
84,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
182,
17
]
} |
The liver steatosis resulted predominantly from hypomethylation of PGC1-α, decreased binding with its partners and subsequent impaired mitochondrial fatty acid oxidation. | biomarker | {
"id": 10891,
"name": "PPARGC1A",
"pos": [
67,
4
]
} | {
"id": "C0015695",
"name": "Fatty Liver",
"pos": [
4,
15
]
} |
GO and KEGG pathway analysis revealed that "regulation of actin cytoskeleton" and "pathway in cancer" are most likely to play critical roles in HCC tumorigenesis. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
144,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
148,
13
]
} |
We conclude that among neonates of South Asian origin, homozygosity for PON2 A148/A148, is associated with significantly lower birth weight. | NA | {
"id": 5445,
"name": "PON2",
"pos": [
72,
4
]
} | {
"id": "C0005612",
"name": "Birth Weight",
"pos": [
127,
12
]
} |
Here we report that SIRT1, a multifaceted player in tumorigenesis, opposed ovarian cancer metastasis in vitro and in vivo by impeding EMT. | NA | {
"id": 23411,
"name": "SIRT1",
"pos": [
20,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
52,
13
]
} |
Involvement of ALF in human spermatogenesis and male infertility. | NA | {
"id": 11036,
"name": "GTF2A1L",
"pos": [
15,
3
]
} | {
"id": "C0021364",
"name": "Male infertility",
"pos": [
48,
16
]
} |
Multivariate analysis gave no support of interaction between the CLC-Kb T481S polymorphism, gender, age or body mass index regarding their effect on BP. | NA | {
"id": 1178,
"name": "CLC",
"pos": [
65,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
107,
15
]
} |
The levels of hemoglobin at 6 h and platelet counts at 24 h after administration in Group A were higher than those in Group B. Serum interleukin (IL)-6, IL-1β and tumor necrotic factor (TNF)-α levels at 24 h after administration in Group A were lower than those in Group B. Serum C5b-9 levels at 24 h after the administration and serum fibrinogen degradation product (FDP) at 72 h after the administration of Stx2 and LPS were lower in Group A than in Group B. | NA | {
"id": 56914,
"name": "OTOR",
"pos": [
368,
3
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
14,
10
]
} |
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). | genomic_alterations | {
"id": 3440,
"name": "IFNA2",
"pos": [
119,
19
]
} | {
"id": "C1852502",
"name": "CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT",
"pos": [
79,
3
]
} |
A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus. | genomic_alterations | {
"id": 338,
"name": "APOB",
"pos": [
23,
16
]
} | {
"id": "C0020597",
"name": "Hypobetalipoproteinemias",
"pos": [
78,
23
]
} |
OBJECTIVE: To evaluate the possible role of insulin-like growth factor (IGF)-1 in acne vulgaris (AV) pathogenesis through its immunohistochemical localization in acne skin biopsies and to investigate the relationship of its expression with body mass index (BMI), selected dietary factors, and acne severity. | NA | {
"id": 3479,
"name": "IGF1",
"pos": [
72,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
240,
15
]
} |
The current study aimed to investigate the effect of GPR34 knockdown on the proliferation, migration, and apoptosis of HGC-27 gastric cancer cells and the underlying mechanisms. | NA | {
"id": 2857,
"name": "GPR34",
"pos": [
53,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
126,
14
]
} |
Integrin alpha5 is required for full activation of ErbB2 tyrosine phosphorylation on Y877 and ErbB2 phosphorylation is associated with increased activity of Src in the absence of adhesion. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
94,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
179,
8
]
} |
In conclusion, PCR-"cold" SSCP is a rapid and sensitive method for identifying p53 genetic alternations. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
79,
3
]
} | {
"id": "C0009443",
"name": "Common Cold",
"pos": [
20,
4
]
} |
In CLL, we show that high levels of LDOC1 correlate with biomarkers of poor prognosis, including cytogenetic markers, unmutated somatic mutation status, and ZAP70 expression. | NA | {
"id": 23641,
"name": "LDOC1",
"pos": [
36,
5
]
} | {
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
128,
16
]
} |
These data indicate that WAT macrophages are a source of OSM and that OSM levels are significantly induced in murine and human obesity/type 2 diabetes mellitus. | NA | {
"id": 83605,
"name": "CCM2",
"pos": [
70,
3
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
127,
7
]
} |
HPP features included Bowdler spurs, severe osteopenia, and low alkaline phosphatase. | NA | {
"id": 780897,
"name": "HPP1",
"pos": [
0,
3
]
} | {
"id": "C1860130",
"name": "Low alkaline phosphatase",
"pos": [
60,
24
]
} |
Analysis of covariates (age at treatment start, cognitive involvement, presence of puberty at the start of ERT, mutation type, functional classification), showed a significant influence on growth of mutation type (height deficit in terms of z-scores most pronounced in patients with deletions/large rearrangements/nonsense mutations, p<0.0001) and age (most pronounced in the 12-15-year group, p<0.0001). | NA | {
"id": 1999,
"name": "ELF3",
"pos": [
107,
3
]
} | {
"id": "C0489786",
"name": "Height",
"pos": [
214,
6
]
} |
Fluorescence in situ hybridization (FISH) with centromere-specific probes for chromosomes 7, 8, and 17 and region-specific probes for D7S486 (7q31), c-myc (8q24), LPL (8p22), and p53 (17p13) was performed on available primary carcinomas and lymph node metastases. | biomarker | {
"id": 4023,
"name": "LPL",
"pos": [
163,
3
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
226,
10
]
} |
Mechanistic and pharmacological assessment of murine IL-23 mediated psoriasiform dermatitis; implications for drug discovery. | biomarker | {
"id": 51561,
"name": "IL23A",
"pos": [
53,
5
]
} | {
"id": "C0262985",
"name": "Psoriasiform eczema",
"pos": [
68,
23
]
} |
This retrospective study analyzed 350 patients with the diagnosis of spondyloarthropathies (SPA) (207 with ankylosing spondylitis (AS), 80 with undifferentiated spondyloarthropathies (USPA) and 63 with psoriatic arthritis (PsA)) attended at a tertiary referral hospital for a minimum period of 5 years. | NA | {
"id": 653509,
"name": "SFTPA1",
"pos": [
92,
3
]
} | {
"id": "C0003872",
"name": "Arthritis, Psoriatic",
"pos": [
202,
19
]
} |
The Ph chromosome is a translocation chromosome which gains oncogenic potential through the fusion of the ABL oncogene of chromosome 9 with the BCR gene of chromosome 22. | NA | {
"id": 613,
"name": "BCR",
"pos": [
144,
8
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
23,
13
]
} |
To investigate the location and severity of MRI signal abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
44,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
55,
13
]
} |
Our findings suggest that the g.14367G>A genetic polymorphism of the TLR4 gene is associated with the susceptibility to T2DM in the population studied. | genomic_alterations | {
"id": 7099,
"name": "TLR4",
"pos": [
72,
4
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
123,
4
]
} |
Immunohistochemical analysis demonstrated that calpain 3 moves from the nuclei of non-neoplastic cells to the cytoplasm of malignant cells, suggesting activation of this intracellular proteinase. | NA | {
"id": 825,
"name": "CAPN3",
"pos": [
47,
9
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
82,
14
]
} |
The expression of GPR34 in gastric cancer cell line HGC-27 was detected by quantitative real-time reverse transcription-polymerase chain reaction (RT-PCR) and Western blotting. | NA | {
"id": 2857,
"name": "GPR34",
"pos": [
18,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
27,
14
]
} |
The dominant model of the PNPLA3 I148M polymorphism showed higher waist circumference, fasting insulin, Homeostasis Model Assessment (HOMA-IR), alanine aminotransferase concentrations and ferritin level. | NA | {
"id": 2875,
"name": "GPT",
"pos": [
144,
24
]
} | {
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
66,
19
]
} |
In this regard, we have recently found that mice lacking IFN regulatory factor (IRF)-2, a negative regulator of IFN-alpha/beta signaling, develop spontaneous, CD8(+) T cell-dependent skin inflammation. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
159,
3
]
} | {
"id": "C0011603",
"name": "Dermatitis",
"pos": [
183,
17
]
} |
After adjustment for several environmental and sociodemographic factors using multivariate logistic regression analysis, paternal asthma, maternal hayfever, damp houses, cat and cockroach SPT positivity proved to be strong predictors for wheezing symptoms. | NA | {
"id": 189,
"name": "AGXT",
"pos": [
188,
3
]
} | {
"id": "C0018621",
"name": "Hay fever",
"pos": [
147,
8
]
} |
A semi-quantitative RT-PCR assay was developed to determine prothymosin alpha and parathymosin mRNA expression patterns in thyroid follicular cells obtained from the fine-needle aspiration biopsy specimens of patients diagnosed with simple nodular goitre, follicular adenoma, papillary and follicular well-differentiated carcinomas. | NA | {
"id": 5757,
"name": "PTMA",
"pos": [
60,
17
]
} | {
"id": "C0018023",
"name": "Nodular Goiter",
"pos": [
240,
14
]
} |
Here we describe the characterization of a novel FGA intron 2 donor splice-site mutation (Fibrinogen Montpellier II) identified in three siblings with hypodysfibrinogenaemia. | genomic_alterations | {
"id": 2243,
"name": "FGA",
"pos": [
49,
3
]
} | {
"id": "C0472803",
"name": "Hypodysfibrinogenemia",
"pos": [
151,
22
]
} |
Together, these results demonstrate for the first time that Pyk2 plays a crucial role in G protein-coupled receptor agonist thrombin-induced human aortic smooth muscle cell growth and migration, as well as balloon injury-induced neointima formation. | NA | {
"id": 2185,
"name": "PTK2B",
"pos": [
60,
4
]
} | {
"id": "C2936381",
"name": "Neointima Formation",
"pos": [
229,
19
]
} |
The presence of both cardiomegaly and CHF in the two affected males and atrial fibrillation in one are consistent with abnormal RyR2 channel function. | NA | {
"id": 6262,
"name": "RYR2",
"pos": [
128,
4
]
} | {
"id": "C0018800",
"name": "Cardiomegaly",
"pos": [
21,
12
]
} |
Cysteine (C)-x-C receptor 4 undergoes transportin 1-dependent nuclear localization and remains functional at the nucleus of metastatic prostate cancer cells. | biomarker | {
"id": 64333,
"name": "ARHGAP9",
"pos": [
13,
3
]
} | {
"id": "C1282496",
"name": "Metastasis from malignant tumor of prostate",
"pos": [
124,
26
]
} |
The methylation levels of ID4, CCND2, and CDH13 increased significantly from normal breast tissue to CCL and to DCIS/invasive carcinoma. | NA | {
"id": 894,
"name": "CCND2",
"pos": [
31,
5
]
} | {
"id": "C1334274",
"name": "Invasive Carcinoma",
"pos": [
117,
18
]
} |
We suggest that HIF-1-alpha is a marker of malignancy in chondrosarcomas that correlates with tumor neo-angiogenesis. | biomarker | {
"id": 3091,
"name": "HIF1A",
"pos": [
16,
11
]
} | {
"id": "C0008479",
"name": "Chondrosarcoma",
"pos": [
57,
15
]
} |
Uterine cysts in female mice deficient for caveolin-1 and insulin-like 3 receptor RXFP2. | NA | {
"id": 3640,
"name": "INSL3",
"pos": [
58,
14
]
} | {
"id": "C0010709",
"name": "Cyst",
"pos": [
8,
5
]
} |
In contrast, the protooncogene c-ets-1, located near the breakpoint of the chromosomal translocation in these tumors, is variable in its expression. | NA | {
"id": 2113,
"name": "ETS1",
"pos": [
33,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
75,
25
]
} |
AML1-ETO fusion protein, a product of leukemia-related chromosomal translocation t(8;21), was reported to upregulate expression of connexin-43 (Cx43), a member of gap junction-constituted connexin family. | NA | {
"id": 862,
"name": "RUNX1T1",
"pos": [
5,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
55,
25
]
} |
Knockdown of Cdr1as suppressed the HCC cell proliferation and invasion. | biomarker | {
"id": 103611090,
"name": "CDR1-AS",
"pos": [
13,
6
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
35,
3
]
} |
A higher frequency of HBV genotype C and a higher ALT level during surface mutant viremia were observed in codon 110-129 mutants than in codon 144-145 mutants. | genomic_alterations | {
"id": 2875,
"name": "GPT",
"pos": [
50,
3
]
} | {
"id": "C0019163",
"name": "Hepatitis B",
"pos": [
22,
3
]
} |
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": "C0221355",
"name": "Macrocephaly",
"pos": [
188,
12
]
} |
In rare cases, FUS can substitute for EWS, with translocation t(16;21)(p11;q24) producing a FUS-ERG fusion with no EWS rearrangement. | NA | {
"id": 2078,
"name": "ERG",
"pos": [
96,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
48,
13
]
} |
SOCS-1 and SOCS-3 mRNA levels were analyzed in 80 paired gastric tumor and adjacent normal mucosal tissues using a microarray dataset from the Gene Expression Omnibus. | NA | {
"id": 8651,
"name": "SOCS1",
"pos": [
0,
6
]
} | {
"id": "C0038356",
"name": "Stomach Neoplasms",
"pos": [
57,
13
]
} |
During the SOD1 analysis of 9 FALS and 121 SALS, in only one sporadic case we found the exonic mutation N19S; in 15 SALS patients we found a 319t>a variation in IVS1 sequence, at 108 bp upstream from exon 2. | NA | {
"id": 6647,
"name": "SOD1",
"pos": [
11,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
61,
8
]
} |
There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new genetic mutations such as RASA-1. | genomic_alterations | {
"id": 5921,
"name": "RASA1",
"pos": [
417,
6
]
} | {
"id": "C1865285",
"name": "Megalencephaly cutis marmorata telangiectatica congenita",
"pos": [
221,
54
]
} |
We confirmed the association of DRB1*1501-DQB1*0602 haplotype carriage with MS in both Wexford [odds ratio (OR) = 2.95, P= 0.0020, P(cor)= 0.0220] and Donegal (OR = 2.29, P= 0.0030, P(cor)= 0.0420). | genomic_alterations | {
"id": 129831,
"name": "RBM45",
"pos": [
32,
4
]
} | {
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
76,
2
]
} |
Differently from human wild type PDXK, none of the variants was able to completely rescue CABs and glucose content elicited by dPdxk<sup>1</sup> mutation. | genomic_alterations | {
"id": 8566,
"name": "PDXK",
"pos": [
33,
4
]
} | {
"id": "C0008626",
"name": "Congenital chromosomal disease",
"pos": [
90,
3
]
} |
Our results show that the Tie-2 receptor pathway is essential for both SLK sarcoma and SW1222 colon carcinoma xenograft growth. | NA | {
"id": 2534,
"name": "FYN",
"pos": [
71,
3
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
94,
15
]
} |
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment. | NA | {
"id": 1748,
"name": "DLX4",
"pos": [
61,
3
]
} | {
"id": "C0027765",
"name": "nervous system disorder",
"pos": [
162,
21
]
} |
To investigate whether CREM-1 is involved in RGCs death, we performed a light-induced retinal damage model in adult rats. | NA | {
"id": 1390,
"name": "CREM",
"pos": [
23,
4
]
} | {
"id": "C0235272",
"name": "Retinal damage",
"pos": [
86,
14
]
} |
Thus, LSM1, BAG4, and C8orf4 are breast cancer oncogenes that can work in combination to influence the transformed phenotype in human mammary epithelial cells. | NA | {
"id": 9530,
"name": "BAG4",
"pos": [
12,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
33,
13
]
} |
The fold increase of spontaneous MN frequencies in overweight and obese subjects was 2.5 and 2.7, respectively, well below the corresponding increase in the γ-H2AX foci (5.6- and 8.0-fold, respectively). | NA | {
"id": 3014,
"name": "H2AX",
"pos": [
159,
4
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
51,
10
]
} |
We sought to examine this further by examination of blood spots in rare cases of MLL fusion-positive or ETV6/RUNX1 (TEL-AML1) fusion gene-positive acute leukemia that were diagnosed at ages beyond the normal age range. | genomic_alterations | {
"id": 861,
"name": "RUNX1",
"pos": [
116,
8
]
} | {
"id": "C4732730",
"name": "Blood spots",
"pos": [
52,
11
]
} |
Whole section lymphocytic infiltration was studied along with mRNA expression of CD3Z, CD8, CD4, CXCL9, CXCL13, IGHM, FOXP3, SNAI2 and ESR1 by qRT-qPCR in tissue microarray (TMA) cores from the centre of tumour, invasive margin and adjacent normal mucosa. | NA | {
"id": 4283,
"name": "CXCL9",
"pos": [
97,
5
]
} | {
"id": "C1262091",
"name": "Lymphocytic infiltration",
"pos": [
14,
24
]
} |
Expression of Th1 and Th2 cytokine-associated transcription factors, T-bet and GATA-3, in peripheral blood mononuclear cells and skin lesions of patients with psoriasis vulgaris. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
14,
3
]
} | {
"id": "C0263361",
"name": "Psoriasis vulgaris",
"pos": [
159,
18
]
} |
Furthermore, IL-6 enhanced AP-1 activity, and the IL-6R mAb, Syk inhibitor, or JNK inhibitor all reduced IL-6-mediated c-Jun phosphorylation, c-Jun binding to the ICAM-1 promoter, and c-Jun translocation into the nucleus. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
105,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
190,
13
]
} |
GISP is a sentinel surveillance system consisting of 26 publicly funded sexually transmitted disease clinics and five regional laboratories. | NA | {
"id": 83998,
"name": "REG4",
"pos": [
0,
4
]
} | {
"id": "C0036916",
"name": "Sexually Transmitted Diseases",
"pos": [
72,
28
]
} |
Taking into account the high degree of homology between rat and human C4.4A, the conformity of the expression profiles and the association of rat C4.4A with tumor progression, human C4.4A might well become a prognostic marker and possibly a target of therapy. | NA | {
"id": 27076,
"name": "LYPD3",
"pos": [
182,
5
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
157,
17
]
} |
High levels of HES1 expression are frequently found in BCR-ABL(+) chronic myelogenous leukemia in blast crisis (CML-BC). | NA | {
"id": 8209,
"name": "GATD3A",
"pos": [
15,
4
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
66,
28
]
} |
The two asymptomatic carriers of the heterozygous DNMT1 mutation for ADCA-DN, a late-onset neurodegenerative disease, presented with SOREMPs associated with an increase of mI in the brain, a marker of glial cell activity and density characteristic of early stages of neurodegenerative diseases. | NA | {
"id": 1786,
"name": "DNMT1",
"pos": [
50,
5
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
8,
12
]
} |
Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome. | NA | {
"id": 56975,
"name": "FAM20C",
"pos": [
94,
11
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
131,
4
]
} |
In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures. | genomic_alterations | {
"id": 3425,
"name": "IDUA",
"pos": [
90,
5
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
307,
8
]
} |
OBJECTIVE: To investigate the involvement of RAGE in the human upper airway conditions chronic rhinosinusitis without nasal polyps (CRSsNP) and chronic rhinosinusitis with nasal polyps (CRSwNP). | NA | {
"id": 177,
"name": "AGER",
"pos": [
45,
4
]
} | {
"id": "C0149516",
"name": "Chronic sinusitis",
"pos": [
144,
22
]
} |
Here we show that, in gastric cancers, the 5 hmC decrease correlates with a decrease in ten-eleven translocation 1 (TET1) expression, which is strongly associated with metastasis and poor survival in patients with gastric cancer. | NA | {
"id": 80312,
"name": "TET1",
"pos": [
116,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
99,
13
]
} |
Parametric and nonparametric multipoint linkage analyses were conducted between the IGE trait (either "idiopathic" generalized seizure or generalized spike-wave EEG discharges) and three microsatellite polymorphisms (D8S256, D8S284, D8S1128) encompassing the putative EGI locus. | NA | {
"id": 1957,
"name": "EGI",
"pos": [
268,
3
]
} | {
"id": "C0234533",
"name": "Generalized seizures",
"pos": [
115,
19
]
} |
These analytical results suggest that BDNF G196A gene polymorphism is associated with a susceptibility to a suicide history in schizophrenia patients in the Taiwanese population. | NA | {
"id": 627,
"name": "BDNF",
"pos": [
38,
4
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
108,
7
]
} |
Mutations in the VHL gene, encoding a core component of this complex, cause a multitumor syndrome and renal cell carcinoma in humans. | genomic_alterations | {
"id": 7428,
"name": "VHL",
"pos": [
17,
3
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
102,
20
]
} |
The rate of pregnancies ending in unexplained fetal loss, early miscarriage, late miscarriage or stillbirth in women with the factor V Leiden was compared with that of women with normal genotype. | NA | {
"id": 2153,
"name": "F5",
"pos": [
127,
15
]
} | {
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
83,
11
]
} |
Recent studies of an animal model of T1D, the Komeda diabetes-prone rat, have demonstrated that the Casitas-B-lineage lymphoma b (cblb) gene is a major susceptibility gene in the development of diabetes and other autoimmune features of this rat. | NA | {
"id": 868,
"name": "CBLB",
"pos": [
130,
4
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
118,
8
]
} |
Some ROS1 IHC-positive but FISH-negative cases did harbor the translocation events and may benefit from crizotinib. | NA | {
"id": 6098,
"name": "ROS1",
"pos": [
5,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
62,
13
]
} |
Cell morphology change and adhesion of LK63 cells are effectively attenuated by endogenous protein tyrosine phosphatase (PTP) activity, whereby PTP inhibition and productive EphA3-phosphotyrosine signaling reverse the phenotype to nonadherent cells with a condensed cytoskeleton. | NA | {
"id": 2042,
"name": "EPHA3",
"pos": [
174,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
27,
8
]
} |
Human tumor cell lines of RCC (786-O), prostate cancer (PC3), lung cancer (A549), breast cancer (MDA-MB231), and melanoma (A375) were transduced with firefly luciferase (Luc), injected into the tibiae of nude mice, and differences in growth, osteolysis, and vascularity were assessed by longitudinal bioluminescent imaging, micro-CT for measurement of calcified tissues and vascularity and histology. | NA | {
"id": 7832,
"name": "BTG2",
"pos": [
56,
3
]
} | {
"id": "C4721411",
"name": "Osteolysis",
"pos": [
242,
10
]
} |
These data identify a mutation in ABCA1 that contributes to the defective PS translocation phenotype in our patient with SS. | NA | {
"id": 19,
"name": "ABCA1",
"pos": [
34,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
77,
13
]
} |
The precise mechanism of cortactin-dependent cofilin regulation and the roles of this pathway in invadopodia maturation and cell invasion are not fully understood. | biomarker | {
"id": 2017,
"name": "CTTN",
"pos": [
25,
9
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
129,
8
]
} |
Molecular studies revealed the tumor contained a GNAQ mutation and four-color fluorescent in situ hybridization (FISH) composed of chromosome enumeration probes for 3, 7, 17 and a locus specific probe for 9p21/CDKN2A yielded a normal result (i.e. two copies per cell), favoring a primary versus metastatic melanocytic neoplasm of the CNS. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
210,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
31,
5
]
} |
In this study, we determine the peptide-binding motif for HLA-DQA1*0102-DQB1*0604 allelic protein (DQ0604) in comparison to the established HLA-DQA1*0102-DQB1*0602 (DQ0602) motif using binding assays with model peptides from T1D autoantigens and homology modeling using the coordinates of the DQ0602-hypocretin 1-13 crystal structure. | biomarker | {
"id": 3060,
"name": "HCRT",
"pos": [
300,
10
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
225,
3
]
} |
In Th1-mediated inflammation, CO abrogates the synergistic effect of interferon (IFN)-gamma on lipopolysaccharide-induced IL-12 p40 in murine macrophages and alters IFN-gamma signaling by inhibiting a member of the IFN regulatory factor (IRF) family of transcription factors, IRF-8. | NA | {
"id": 84676,
"name": "TRIM63",
"pos": [
238,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
16,
12
]
} |
Fifteen kinases were repeatedly vulnerable in myeloma cells, including AKT1, AK3L1, AURKA, AURKB, CDC2L1, CDK5R2, FES, FLT4, GAK, GRK6, HK1, PKN1, PLK1, SMG1, and TNK2. | NA | {
"id": 8941,
"name": "CDK5R2",
"pos": [
106,
6
]
} | {
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
46,
7
]
} |
Agilent dual-channel data of peripheral blood mononuclear cells (PBMCs) from healthy controls and vasculitis patients were downloaded from EBI Array Express database. | NA | {
"id": 6907,
"name": "TBL1X",
"pos": [
139,
3
]
} | {
"id": "C0042384",
"name": "Vasculitis",
"pos": [
98,
10
]
} |
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