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dict |
|---|---|---|---|
Mice deleted for Snrpn exon 2 have no obvious phenotypic abnormalities and switching of the genomic imprint for the region is conserved. | NA | {
"id": 6638,
"name": "SNRPN",
"pos": [
17,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
57,
13
]
} |
Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis. | biomarker | {
"id": 338339,
"name": "CLEC4D",
"pos": [
45,
22
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
87,
7
]
} |
This suggests the potential application of combined PB and radiotherapy in glioblastoma harboring mutant p53. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
105,
3
]
} | {
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
75,
12
]
} |
Over the past 2 decades the use of thrombolytic therapy in the management of peripheral occlusive diseases, most notably peripheral arterial occlusion (PAO) and deep venous thrombosis (DVT), has become an accepted and potentially preferable alternative to surgery. | NA | {
"id": 196743,
"name": "PAOX",
"pos": [
152,
3
]
} | {
"id": "C0149871",
"name": "Deep Vein Thrombosis",
"pos": [
161,
22
]
} |
The antigens MART and OND have been located on the leucocyte adhesion molecules (beta2 integrins) and found to be caused by single nucleotide mutations in the alphaM (CD11b) and alphaL (CD11a) subunits. | NA | {
"id": 3684,
"name": "ITGAM",
"pos": [
167,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
61,
8
]
} |
In addition, we found an increased frequency of the COMT Met/Met genotype among suicidal (P=0.002) and patients who attempted suicide (P<0.001) and an increased frequency of COMT Val/Val genotype in patients with an early onset of alcohol dependence (P=0.004). | NA | {
"id": 1312,
"name": "COMT",
"pos": [
174,
4
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
126,
7
]
} |
To investigate the potential therapeutic value of ANP gene delivery on salt-induced stroke and cerebrovascular disorders, an adenovirus harboring the human ANP gene (Ad.RSV-cANP) was injected into Dahl-SS rats on a high salt diet. | NA | {
"id": 823,
"name": "CAPN1",
"pos": [
173,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
125,
10
]
} |
This is the first report of BRAF activation through rearrangement as a frequent feature in a sporadic tumor. | NA | {
"id": 673,
"name": "BRAF",
"pos": [
28,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
93,
8
]
} |
Together, this study elucidates a novel role for miR-21 in the brain, not only as a potential signature of neurological disease but also as a crucial effector of HIV induced neuronal dysfunction and neurodegeneration. | NA | {
"id": 406991,
"name": "MIR21",
"pos": [
49,
6
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
199,
17
]
} |
We found that, unlike sporadic colorectal cancer and control patients, patients with CAC show activated VEGFR2 on intestinal epithelial cells (IECs). | NA | {
"id": 788,
"name": "SLC25A20",
"pos": [
85,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
22,
8
]
} |
Northern blot analysis of WT1 was performed on mRNA from 3 normal and 1 malignant testis, as well as from 4 testicular cancer cell lines (TERA 1, TERA 2, HTE and HTH). | NA | {
"id": 10005,
"name": "ACOT8",
"pos": [
154,
3
]
} | {
"id": "C0855197",
"name": "Malignant Testicular Germ Cell Tumor",
"pos": [
108,
17
]
} |
We investigated whether circulating factors link LOX-1 expression in endothelial cells and impaired endothelium-dependent vasoreactivity (EDVR) as functional indicator of atherogenesis. | NA | {
"id": 4973,
"name": "OLR1",
"pos": [
49,
5
]
} | {
"id": "C1563937",
"name": "Atherogenesis",
"pos": [
171,
13
]
} |
However, the risk increased in women with GSTP1 variant G allele which conferred 1.43 times [(0.96-2.11) 0.07] more risk to breast cancer. | genomic_alterations | {
"id": 2950,
"name": "GSTP1",
"pos": [
42,
5
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
124,
13
]
} |
Flow-mediated dilation and intima-media thickness, 2 surrogate markers of atherosclerosis, serum activity of NOX2, urinary isoprostanes, serum levels of nitrite/nitrate, and platelet production of isoprostanes and nitrite/nitrate were determined. | NA | {
"id": 1536,
"name": "CYBB",
"pos": [
109,
4
]
} | {
"id": "C0012359",
"name": "Pathological Dilatation",
"pos": [
14,
8
]
} |
They were treated with Peg-IFN 1 microg/kg body weight subcutaneously once a week for 24 weeks. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
27,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
43,
11
]
} |
Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. | genomic_alterations | {
"id": 472,
"name": "ATM",
"pos": [
90,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
116,
13
]
} |
Imbalanced alpha/beta-globin chain as a consequence of either reduction or enhancement of beta-globin chain synthesis can cause abnormal red blood cell properties in mouse models. | NA | {
"id": 3043,
"name": "HBB",
"pos": [
90,
11
]
} | {
"id": "C0391870",
"name": "Abnormality of red blood cells",
"pos": [
128,
23
]
} |
D324N single-nucleotide polymorphism in the FLT3 gene is associated with higher risk of myeloid leukemias. | genomic_alterations | {
"id": 2322,
"name": "FLT3",
"pos": [
44,
4
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
88,
17
]
} |
PTHrP also influenced expression of the adhesion factor CXCR4, and coexpression of PTHrP and CXCR4 was crucial for metastatic spread. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
93,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
40,
8
]
} |
Little is known about the mechanisms that control NF-κB activity during sterile inflammation. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
50,
5
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
72,
7
]
} |
Members in the SA pedigrees were older, had greater central obesity, had higher prevalence of the metabolic syndrome, and were from a more urban environment than members of the SLV pedigrees. | NA | {
"id": 55974,
"name": "SLC50A1",
"pos": [
177,
3
]
} | {
"id": "C0524620",
"name": "Metabolic Syndrome X",
"pos": [
98,
18
]
} |
METHODS: MCF7 and MDA-MB-231 breast cancer cells were transfected with anti-SOCS7 ribozymal transgene, to create sublines with SOCS7 knockdown. | NA | {
"id": 122809,
"name": "SOCS4",
"pos": [
127,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
29,
13
]
} |
Since squamous cell carcinoma (SCCs) of the uterine cervix also frequently metastasizes to bone, we investigated whether BSP is expressed in human cervical cancer. | NA | {
"id": 3381,
"name": "IBSP",
"pos": [
121,
3
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
147,
15
]
} |
These results indicate that the smaller deletions contain the gene(s), most likely Rai1, causing craniofacial abnormalities and obesity. | NA | {
"id": 1797,
"name": "DXO",
"pos": [
83,
4
]
} | {
"id": "C0376634",
"name": "Craniofacial Abnormalities",
"pos": [
97,
26
]
} |
Polymorphism in COMT is associated with IgG3 subclass level and susceptibility to infection in patients with chronic fatigue syndrome. | genomic_alterations | {
"id": 3502,
"name": "IGHG3",
"pos": [
40,
4
]
} | {
"id": "C0015674",
"name": "Chronic Fatigue Syndrome",
"pos": [
109,
24
]
} |
The small interfering RNA (siRNA) technique was employed to knock down Snail expression in three glioblastoma cell lines (KNS42, U87, and U373). | NA | {
"id": 677775,
"name": "SCARNA5",
"pos": [
129,
3
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
97,
12
]
} |
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease. | NA | {
"id": 7068,
"name": "THRB",
"pos": [
147,
4
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
47,
18
]
} |
To identify the mechanisms controlling chronic myeloid leukemia (CML) and acute myeloid leukemia (AML) in humans, we analyzed genome-wide transcription dynamics in three myeloid leukemia cell lines (K562, HL-60, and THP1) using high-throughput sequencing technology. | NA | {
"id": 2736,
"name": "GLI2",
"pos": [
216,
4
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
170,
16
]
} |
We report a young boy with penoscrotal hypospadias, anal atresia (AA) with a recto-urethral fistula, a hypoplastic kidney and a balanced translocation t(6;17)(p21.31;q11.2). | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
159,
3
]
} | {
"id": "C0243066",
"name": "Atresia",
"pos": [
57,
7
]
} |
Both human KD patients and LCWE-treated mice developed coronary arteritis, myocarditis, valvulitis, and pericarditis, as well as elevated plasma levels of interleukin (IL)-2, IL-6, IL-10, monocyte chemoattractant protein (MCP)-1, and tumor necrosis factor (TNF)-α in acute phase. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
257,
3
]
} | {
"id": "C0031046",
"name": "Pericarditis",
"pos": [
104,
12
]
} |
We herein report the first case in the literature, to our knowledge, of a 44-year-old female with essential thrombocythemia and severe myelofibrosis who developed acute myeloid leukemia (AML-M4) with der(1;15)(q10;q10) after 13 years of treatment. | NA | {
"id": 27161,
"name": "AGO2",
"pos": [
214,
3
]
} | {
"id": "C0026987",
"name": "Myelofibrosis",
"pos": [
135,
13
]
} |
COX-2 gene promoter polymorphism and coronary artery disease in middle-aged men: the Helsinki sudden death study. | genomic_alterations | {
"id": 107075310,
"name": "MTCO2P12",
"pos": [
0,
5
]
} | {
"id": "C0010068",
"name": "Coronary heart disease",
"pos": [
37,
23
]
} |
Here, proteins of the contractile apparatus of cardiac cells as well as the FAS sub-network were found to be affected by common polymorphisms in DCM. | genomic_alterations | {
"id": 355,
"name": "FAS",
"pos": [
76,
3
]
} | {
"id": "C1449563",
"name": "Cardiomyopathy, Familial Idiopathic",
"pos": [
145,
3
]
} |
Eleven lung and esophageal cancer lines and cultured normal human bronchial epithelial (NHBE) cells were exposed to normal media (NM), DAC, DP, or combination DAC/DP at varying concentrations and exposure durations. | NA | {
"id": 13,
"name": "AADAC",
"pos": [
159,
3
]
} | {
"id": "C0014859",
"name": "Esophageal Neoplasms",
"pos": [
16,
17
]
} |
The paraoxonase (PON1) Gln192-->Arg polymorphism was examined in a group of sporadic late-onset Alzheimer's disease (AD) patients, in a group of coronary artery disease (CAD) patients, and in normal subjects. | NA | {
"id": 5444,
"name": "PON1",
"pos": [
17,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
76,
8
]
} |
Further insight into the metabolic disturbances that are probably associated with the onset of the disease may also rely on new animal models of AD involving insulin/IGF-I signaling that could mimic the far most common sporadic forms of AD associated with old age. | NA | {
"id": 3479,
"name": "IGF1",
"pos": [
166,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
219,
8
]
} |
We report that of 65 sebaceous nevi studied, 62 (95%) had mutations in the HRAS gene and 3 (5%) had mutations in the KRAS gene. | NA | {
"id": 3845,
"name": "KRAS",
"pos": [
117,
9
]
} | {
"id": "C0027960",
"name": "Nevus",
"pos": [
31,
4
]
} |
Fifty-eight patients diagnosed with PD-related LRRK2 G2019S mutation were included in the study and compared with 54 sporadic PD patients with negative tests for LRRK2 G2019S, PINK1, SNCA, PRKN, and DJ1 mutations. | NA | {
"id": 11315,
"name": "PARK7",
"pos": [
199,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
117,
8
]
} |
IKBIP, SEC24D and FAM46A among the 22 hub genes identified that are related to the malignancy degree of glioma might be used as new biomarkers to improve the diagnosis, treatment and prognosis of glioma. | biomarker | {
"id": 55603,
"name": "TENT5A",
"pos": [
18,
6
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
83,
10
]
} |
The data suggest that CRB2 present in rods is required to prevent photoreceptor degeneration and vision loss. | biomarker | {
"id": 286204,
"name": "CRB2",
"pos": [
22,
4
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
97,
11
]
} |
RUNX2 mutation can reduce the osteogenic capacity of DFCs by inhibiting osteoblast-associated genes and then affecting bone formation, which participates in bone remodeling during tooth eruption. | genomic_alterations | {
"id": 860,
"name": "RUNX2",
"pos": [
0,
5
]
} | {
"id": "C0015230",
"name": "Exanthema",
"pos": [
186,
8
]
} |
The results indicate that the BsmI polymorphism in the VDR gene plays a significant role in protection against prostate cancer and BPH. | genomic_alterations | {
"id": 7421,
"name": "VDR",
"pos": [
55,
3
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
111,
15
]
} |
This strategy would still not suffice for treatment of IRDs such as Usher syndrome type 1D or Alström syndrome type I (ALMS) due to mutations in CDH23 or ALMS1, respectively. | genomic_alterations | {
"id": 64072,
"name": "CDH23",
"pos": [
145,
5
]
} | {
"id": "C0268425",
"name": "Alstrom Syndrome",
"pos": [
94,
16
]
} |
The present data suggest that ErbB2, ErbB3, and ErbB4 genes may have a role in bladder cancer tumorigenesis. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
30,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
94,
13
]
} |
We have also explored the role of CD48 in a SEB-induced peritonitis model in CD48-/- mice by evaluating inflammatory peritoneal cells, eosinophil numbers and activation. | NA | {
"id": 962,
"name": "CD48",
"pos": [
77,
4
]
} | {
"id": "C0031154",
"name": "Peritonitis",
"pos": [
56,
11
]
} |
Blood pressure (BP), body composition (dual-energy X-ray absorptiometer), visceral adiposity (computerized tomography), as well as fasting glucose, insulin, lipid profile, IL-18 levels, and IL-18 genotype were measured in 104 normal-weight (body mass index (BMI) < or = 25 kg/m2) and 124 obese (BMI > or = 30 kg/m2) black South African women. | NA | {
"id": 3606,
"name": "IL18",
"pos": [
190,
5
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
241,
15
]
} |
The protein encoded by S100A4 gene is now known to be capable of regulating cell cycle progression, modulating intercellular adhesion and invasive and metastatic properties of cancer cells. | NA | {
"id": 6275,
"name": "S100A4",
"pos": [
23,
11
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
125,
8
]
} |
Second, FIR or FIRΔexon2 adenovirus vectors (Ad-FIR or Ad-FIRΔexon2) increased Ku86/Ku70 and P27Kip1 expression in vitro. | NA | {
"id": 9855,
"name": "FARP2",
"pos": [
48,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
25,
10
]
} |
All of these had surface IgM lambda and the CD10 marker with low to absent CD23, CD30, CD39 and surface adhesion molecules. | NA | {
"id": 2208,
"name": "FCER2",
"pos": [
75,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
104,
8
]
} |
Critical limb ischemia (CLI) is typified by rest pain and/or tissue necrosis secondary to advanced peripheral arterial disease (PAD) and is characterized by diminution in limb perfusion at rest. | NA | {
"id": 1191,
"name": "CLU",
"pos": [
24,
3
]
} | {
"id": "C1704436",
"name": "Peripheral Arterial Diseases",
"pos": [
99,
27
]
} |
One patient homozygous for the R954X mutation had a 20-year history of an inflammatory neuropathy that was superimposed onto the hereditary form, indicating that structural alterations to the SH3TC2 gene could possibly predispose to peripheral nerve inflammation. | NA | {
"id": 79628,
"name": "SH3TC2",
"pos": [
192,
11
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
250,
12
]
} |
siRNA-mediated knock down of HAS2 in Hs578T breast tumor cells led to an up-regulation of HAS1, HAS3 and HYAL1 mRNAs, resulting in only a 50% decrease in the net hyaluronan production; however, the synthesized hyaluronan was of lower size and more polydisparse compared to control siRNA-treated cells. | NA | {
"id": 8886,
"name": "DDX18",
"pos": [
90,
4
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
44,
12
]
} |
There is strong evidence that the Chr.5q31-33 region, which contains the immune response cytokine genes [interleukin (IL)-3, IL-4, IL-5, IL-9, and IL-13], is linked to autoimmune thyroid disorders in Chinese and Japanese populations. | NA | {
"id": 3578,
"name": "IL9",
"pos": [
137,
4
]
} | {
"id": "C0040128",
"name": "Thyroid Diseases",
"pos": [
179,
17
]
} |
Oncolytic adenovirus co-expressing miRNA-34a and IL-24 induces superior antitumor activity in experimental tumor model. | NA | {
"id": 11009,
"name": "IL24",
"pos": [
49,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
10,
10
]
} |
Fifty-one consecutive patients of AKI following vasculotoxic snake bite were evaluated for various clinical/biochemical parameters (including Free T4, TSH, Cortisol, ACTH, total testosterone, FSH, LH, prolactin, and IGF-1). | biomarker | {
"id": 5443,
"name": "POMC",
"pos": [
166,
4
]
} | {
"id": "C0022660",
"name": "Kidney Failure, Acute",
"pos": [
34,
3
]
} |
DR3.AEo transgenic mice were susceptible to proteolipid protein(91-110)-induced EAE and showed CNS pathology accompanied by widespread inflammation and demyelination seen in human MS patients, suggesting a role for class II(+) CD4(+) T cells in the pathogenesis. | NA | {
"id": 8718,
"name": "TNFRSF25",
"pos": [
0,
3
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
152,
13
]
} |
The effects of ephrin B2 activation of the EphB4 receptor on bone resorption activity were also determined. | NA | {
"id": 1948,
"name": "EFNB2",
"pos": [
15,
9
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
61,
15
]
} |
AHS is a serious threat beyond the African continent as endemic Culicoides species in moderate climates transmit the closely related prototype bluetongue virus. | biomarker | {
"id": 197,
"name": "AHSG",
"pos": [
0,
3
]
} | {
"id": "C0005866",
"name": "Bluetongue infection",
"pos": [
143,
10
]
} |
In this study, biopsies of human HCC, liver tumor samples of mice and cell lines of normal and tumor liver were utilized to determine the alteration of Brf1 expression using cytological and molecular biological approaches. | NA | {
"id": 2972,
"name": "BRF1",
"pos": [
152,
4
]
} | {
"id": "C0023903",
"name": "Liver neoplasms",
"pos": [
38,
11
]
} |
Since anti-PLGF was recently applied in clinical trials to inhibit cancer-related angiogenesis, here our data further demonstrate that inhibition of cancer neovascularization by anti-PLGF is mediated not only by direct effect on endothelial growth and capillary permeability, but also by indirect effect via MMP3 on the extracellular matrix degradation in larynx carcinoma. | NA | {
"id": 5228,
"name": "PGF",
"pos": [
183,
4
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
156,
18
]
} |
G protein beta 3 subunit 825T allele carriage and risk of coronary artery disease. | genomic_alterations | {
"id": 2784,
"name": "GNB3",
"pos": [
0,
24
]
} | {
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
58,
23
]
} |
Three susceptibility loci for primary angle-closure glaucoma (PACG) were recently identified: PLEKHA7 rs11024102, COL11A1 rs3753841, and rs1015213 located in the intergenic region between PCMTD1 and ST18. | genomic_alterations | {
"id": 115294,
"name": "PCMTD1",
"pos": [
188,
6
]
} | {
"id": "C0017605",
"name": "Angle Closure Glaucoma",
"pos": [
30,
30
]
} |
There are no cardiological abnormalities in all MMD categories. | NA | {
"id": 23531,
"name": "MMD",
"pos": [
48,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
27,
13
]
} |
To analyze the effects of the mutations in the beta3-adrenoceptor (beta3-AR) gene and/or uncoupling protein3 (UCP3) gene promoter on body fat distribution and glycemic control after mild weight reduction in overweight-obese subjects with coronary artery disease (CAD) or metabolic syndrome. | NA | {
"id": 7352,
"name": "UCP3",
"pos": [
110,
4
]
} | {
"id": "C1262477",
"name": "Weight decreased",
"pos": [
187,
16
]
} |
Accordingly, the present study demonstrated that hypoxia induces down-regulation of E-cadherin in ovarian carcinoma cells, via up-regulation of the transcriptional repressor SNAIL. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
84,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
49,
7
]
} |
The NS5A sequence heterogeneity and IL28B SNP are useful factors to predict the sensitivity to PEG-IFN/RBV therapy in HCV-2a and HCV-2b infections. | NA | {
"id": 282617,
"name": "IFNL3",
"pos": [
36,
5
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
136,
10
]
} |
The present case provides evidence for a correlation of a mutation in the NEK1 gene with SRPS III. | genomic_alterations | {
"id": 4750,
"name": "NEK1",
"pos": [
74,
4
]
} | {
"id": "C0432197",
"name": "Short rib-polydactyly syndrome, Verma-Naumoff type",
"pos": [
89,
4
]
} |
In addition, immunohistochemistry analysis using anti-human CD163 antibody was performed on the lung sections of two patients with DM-related ILD (a survivor and non-survivor, respectively) and one patient with early-stage lung cancer as a normal control. | biomarker | {
"id": 9332,
"name": "CD163",
"pos": [
60,
5
]
} | {
"id": "C0206062",
"name": "Lung Diseases, Interstitial",
"pos": [
142,
3
]
} |
The pattern of ATBF1 staining is a potential prognostic marker for skin cancer. | NA | {
"id": 463,
"name": "ZFHX3",
"pos": [
15,
5
]
} | {
"id": "C0007114",
"name": "Malignant neoplasm of skin",
"pos": [
67,
11
]
} |
We report a patient presenting at 77 years with a predominant axial myopathy associated with prominent involvement of spine extensors, confirmed on MRI and muscle biopsy, compatible with a core myopathy. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
148,
3
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
194,
8
]
} |
These cellular results were confirmed using tumor xenografts in mice, as DSG3 silencing led to the suppressed tumor growth, plakoglobin translocation and reduced expression of TCF/LEF target genes in tumors. | NA | {
"id": 3728,
"name": "JUP",
"pos": [
124,
11
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
136,
13
]
} |
Taken together, these data point to a role of genes coding for xenobiotic-metabolizing enzymes in breast tumorigenesis, NAT1 being an attractive candidate molecular predictor of antiestrogen responsiveness. | NA | {
"id": 1982,
"name": "EIF4G2",
"pos": [
120,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
105,
13
]
} |
Three injury models (apical resection, ischemia/reperfusion, and myocardial infarction) were used to identify the location and cell type of ciliated cells with the use of antibodies specific for cilia (acetylated tubulin, γ-tubulin, polycystin [PC] 1, PC2, and KIF3A), fibroblasts (vimentin, α-smooth muscle actin, and fibroblast-specific protein-1), and cardiomyocytes (α-actinin and troponin I). | biomarker | {
"id": 60,
"name": "ACTB",
"pos": [
308,
5
]
} | {
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
65,
21
]
} |
The t(1;19)(q23;p13) is one of the most common chromosomal translocations in acute lymphoblastic leukemia (ALL) and results in production of the transforming oncoprotein E2A-PBX1. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
16,
3
]
} | {
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
77,
28
]
} |
In contrast, all 31 adenomyosis tissue samples were negative for p53, MDM2, and p21Waf1 expression. | NA | {
"id": 4193,
"name": "MDM2",
"pos": [
70,
4
]
} | {
"id": "C0341858",
"name": "Endometriosis of uterus",
"pos": [
20,
11
]
} |
The results of our study confirmed MLPA as an efficient clinical method for detecting DMD gene mutations in DMD/BMD patients. | genomic_alterations | {
"id": 1756,
"name": "DMD",
"pos": [
108,
3
]
} | {
"id": "C0339510",
"name": "Vitelliform Macular Dystrophy",
"pos": [
112,
3
]
} |
Based on the known three-dimensional structures of repeat domains of other proteins, the tandem Roc-COR domains of the Chlorobium tepidum Rab family protein, and the kinase domain of the Dictyostelium discoideum Roco4 protein, we predicted (1) the motifs essential for protein-protein interactions in all domains, (2) the motifs critical for catalysis and substrate recognition in the tandem Roc-COR and kinase domains, and (3) the effects of some PD-associated missense variations on the neurotoxic action of LRRK2. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
510,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
448,
2
]
} |
Myotonia congenita is an inherited disease that is characterized by impaired muscle relaxation after contraction caused by loss-of-function mutations in the skeletal muscle ClC-1 channel. | genomic_alterations | {
"id": 1180,
"name": "CLCN1",
"pos": [
173,
5
]
} | {
"id": "C0234119",
"name": "Neuromuscular inhibition",
"pos": [
77,
17
]
} |
Among 13 constructed haplotypes, we further examined 4 (CCTT, TTCT, TTCA, and CCTA) with > 1% frequency in both FM and controls. | biomarker | {
"id": 6950,
"name": "TCP1",
"pos": [
78,
4
]
} | {
"id": "C0016053",
"name": "Fibromyalgia",
"pos": [
115,
2
]
} |
Since COL11A2 has also been localized to this chromosome region, a mutation in this collagen gene is an attractive explanation for the Stickler syndrome phenotype in this family. | genomic_alterations | {
"id": 1302,
"name": "COL11A2",
"pos": [
6,
7
]
} | {
"id": "C0265253",
"name": "Stickler syndrome (disorder)",
"pos": [
135,
17
]
} |
The association of glutathione S-transferase GSTT1 and GSTM1 gene polymorphism with pseudoexfoliative glaucoma in a Pakistani population. | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
45,
5
]
} | {
"id": "C0017601",
"name": "Glaucoma",
"pos": [
102,
8
]
} |
Heterogeneity of the alpha-globin gene defects in German alpha-thalassemia affected families. | genomic_alterations | {
"id": 3039,
"name": "HBA1",
"pos": [
21,
12
]
} | {
"id": "C1456873",
"name": "alpha^+^ Thalassemia",
"pos": [
57,
17
]
} |
Moreover, there was a synergistic effect between smoking and the PTGS2 polymorphism and the occurrence of CAD (interaction p=0.009). | NA | {
"id": 5743,
"name": "PTGS2",
"pos": [
65,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
49,
7
]
} |
We found nominally significant (P<0.05) allelic and genotypic association with smoking initiation of SNP rs2072660 and multilocus haplotypes (P<0.007-0.05) in CHRNB2 and nominal (P<0.05) allelic or genotypic association of SNPs in CHRNA7 (rs1909884), CHRNA9 (rs4861065) and CHRNB3 (rs9298629) with nicotine dependence. | genomic_alterations | {
"id": 1141,
"name": "CHRNB2",
"pos": [
165,
6
]
} | {
"id": "C0028043",
"name": "Nicotine Dependence",
"pos": [
307,
19
]
} |
The aim of this work is to elaborate allelic frequencies of the RET proto-oncogene polymorphisms in Turkish sporadic MTC patients and to demonstrate if there is an association between SNP and the clinical disease features, specifically the age at onset of MTC and lymph node involvement at diagnosis. | NA | {
"id": 5979,
"name": "RET",
"pos": [
64,
18
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
108,
8
]
} |
Of 54 cases of prostatic small cell carcinoma, 26 (48%) were positive for TMPRSS2-ERG gene fusion by FISH and 12 (22%) showed overexpression of ERG protein by immunohistochemistry. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
101,
4
]
} | {
"id": "C0262584",
"name": "Carcinoma, Small Cell",
"pos": [
25,
20
]
} |
We have speculated that the degree of liver dysfunction in alcoholic liver disease with ALDH2*1/2*2 may be less pronounced than that with ALDH2*1/2*1. | NA | {
"id": 217,
"name": "ALDH2",
"pos": [
138,
5
]
} | {
"id": "C0086565",
"name": "Liver Dysfunction",
"pos": [
38,
17
]
} |
We have demonstrated that the t(11;14)(p13;q11) translocation in two T-ALL patients involves the J delta region suggesting that the translocation proceeds or coincides with delta gene rearrangement. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
40,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
133,
13
]
} |
In conclusion, these findings indicate that CDCA, and to a lesser extent DCA, by inhibiting 11 beta HSD2, mediate cortisol-dependent nuclear translocation and transcriptional activation of MR and are responsible at least for a part of the sodium retention and potassium excretion observed in patients with biliary obstruction. | NA | {
"id": 6060,
"name": "RNU1-4",
"pos": [
100,
4
]
} | {
"id": "C0400979",
"name": "Obstruction of biliary tree",
"pos": [
306,
19
]
} |
However, a potential role for REST-mediated transcriptional regulation in mood disorders remains unclear. | NA | {
"id": 5978,
"name": "REST",
"pos": [
30,
4
]
} | {
"id": "C0525045",
"name": "Mood Disorders",
"pos": [
74,
14
]
} |
The leukemia-associated ETV6-RUNX1-translocation frequently emerges prenatally. | genomic_alterations | {
"id": 2120,
"name": "ETV6",
"pos": [
24,
4
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
4,
8
]
} |
To determine the relation between vinyl chloride exposure and this p53 biomarker, the authors examined serum samples collected between 1987 and 1992 from a cohort of 225 French vinyl chloride workers and 111 unexposed controls (matched according to age, sex, race, smoking, and alcohol drinking) for the presence of mutant p53 protein, using an enzyme-linked immunosorbent assay. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
67,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
265,
7
]
} |
Furthermore, aerosol delivery of GPT-SPE/Akt1 shRNA complexes significantly suppressed lung tumorigenesis in K-ras(LA1) lung cancer model mice. | NA | {
"id": 1798,
"name": "DPAGT1",
"pos": [
33,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
92,
13
]
} |
In the work presented here, we elucidate a mechanism for the repression of alpha-myosin heavy chain (MyHC) during pathological cardiac hypertrophy. | NA | {
"id": 4624,
"name": "MYH6",
"pos": [
101,
4
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
127,
19
]
} |
The genotype analysis results showed that CCND1 GG genotype was associated with a lower risk overall in urothelial (P = 0.008, OR = 0.44, 95% CI = 0.24-0.81) and bladder cancer patients (P = 0.008, OR = 0.34, 95% CI = 0.15-0.76) than those of the AA genotype. | genomic_alterations | {
"id": 595,
"name": "CCND1",
"pos": [
42,
5
]
} | {
"id": "C0005695",
"name": "Bladder Neoplasm",
"pos": [
162,
14
]
} |
These results suggest that: (i) homozygous deletion is the main mechanism of inactivation of p16/CDKN2 and p15/MTS2 in ovarian tumorigenesis; (ii) inactivation of p16/CDKN2 and p15/MTS2 may be the histological type-specific events involved in ovarian tumorigenesis; and (iii) inactivation of p16/CDKN2 is potentially involved in the progression of ovarian tumors in advanced stages. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
296,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
251,
13
]
} |
Among the AML patients with normal karyotype, a low HOXA4 level was associated with a shorter overall survival (P = 0.005). | biomarker | {
"id": 3201,
"name": "HOXA4",
"pos": [
52,
5
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
10,
3
]
} |
Patients carrying JARID2 deletion manifested with cognitive impairment, gait disturbance and a characteristic facial appearance, whereas patients with deletion of ATXN1 seemed to be characterized by intellectual disability and behavioural abnormalities. | NA | {
"id": 6310,
"name": "ATXN1",
"pos": [
163,
5
]
} | {
"id": "C0282631",
"name": "Facies",
"pos": [
110,
17
]
} |
Cohort members received intensified treatment to meet the following ADA recommended goals: HbA1c <7%, systolic blood pressure (SBP) <130mmHg, diastolic blood pressure <80 mmHg, low-density lipoprotein cholesterol <100mgdL(-1) , triglyceride < 150mgdL(-1) , high-density lipoprotein cholesterol >40mgdL(-1) for men and >50mgdL(-1) for women. | NA | {
"id": 100,
"name": "ADA",
"pos": [
68,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
142,
24
]
} |
To our knowledge, this is the second report of an aberrant BCR/ABL product lacking ABL exon a2 in childhood ALL. | genomic_alterations | {
"id": 4547,
"name": "MTTP",
"pos": [
83,
3
]
} | {
"id": "C0023452",
"name": "Childhood Acute Lymphoblastic Leukemia",
"pos": [
108,
3
]
} |
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