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dict |
|---|---|---|---|
Increased expression of c-maf in pure red cell aplasia secondary to plasma cell dyscrasia. | NA | {
"id": 4094,
"name": "MAF",
"pos": [
24,
5
]
} | {
"id": "C1136084",
"name": "Plasma cell dyscrasia",
"pos": [
68,
21
]
} |
This group of genes could segregate sporadic tumors into two subgroups, "BRCA1-like" and "BRCA2-like," suggesting that BRCA1-related and BRCA2-related pathways are also involved in sporadic ovarian cancers. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
119,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
181,
8
]
} |
4T1 mammary tumor cells, which express considerable endogenous podocalyxin, were retrovirally transduced with a short hairpin ribonucleic acid (shRNA) targeting podocalyxin for stable knockdown. | NA | {
"id": 5420,
"name": "PODXL",
"pos": [
161,
11
]
} | {
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
4,
13
]
} |
However, the mechanisms mediating cell proliferation after hypoxia or HIF-2α activation in CRC are unclear. | biomarker | {
"id": 2034,
"name": "EPAS1",
"pos": [
70,
6
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
91,
3
]
} |
Furthermore, our proteomic and functional experiments revealed a novel role for the chromatin organizer protein HP1BP3 in mediating chromatin condensation during hypoxia, leading to increased tumor cell viability, radio-resistance, chemo-resistance, and self-renewal. | biomarker | {
"id": 50809,
"name": "HP1BP3",
"pos": [
112,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
192,
5
]
} |
A multivariate Cox regression model indicated that only the p53 and RNASEL genotypes had a significant influence on age of disease onset (p=0.016 for p53 and p=0.014 for RNASEL) in an additive mode of inheritance, and that the effects of both variants are purely additive, which supports the notion that the p53 and RNaseL pathways do not interact. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
308,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
19,
10
]
} |
The effects on thrombosis were studied with the laser carotid artery occlusion model, and APC generation capacity was measured with ELISA. | biomarker | {
"id": 324,
"name": "APC",
"pos": [
90,
3
]
} | {
"id": "C0265101",
"name": "Carotid artery occlusion",
"pos": [
54,
24
]
} |
To examine its oncogenicity in vivo and to create an animal model for BCR/ABL-positive leukemias, we generated transgenic mice expressing p210bcr/abl driven by the promoter of the mouse tec gene, a cytoplasmic tyrosine kinase preferentially expressed in early hematopoietic progenitors. | NA | {
"id": 1445,
"name": "CSK",
"pos": [
198,
27
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
87,
9
]
} |
Thus the suicide of CD45RO+ T cells could be prevented by the addition of interleukin 2 to the culture medium which resulted in a concomitant increase in the bcl-2 expression of these cells. | NA | {
"id": 3558,
"name": "IL2",
"pos": [
74,
13
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
9,
7
]
} |
We investigated KISS1R gene defects in a cohort of 99 Brazilian patients with nIHH or constitutional delay of puberty (CDP). | NA | {
"id": 1523,
"name": "CUX1",
"pos": [
119,
3
]
} | {
"id": "C2874202",
"name": "Constitutional delay of puberty",
"pos": [
86,
31
]
} |
In HSC3 cells, restoration of miR-133a or silencing ARPC5 led to a reorganization of the actin cytoskeleton and a subsequent change in cell morphology to a round, bleb-like shape. | NA | {
"id": 150353,
"name": "DNAJB7",
"pos": [
3,
4
]
} | {
"id": "C0005758",
"name": "Bulla",
"pos": [
163,
4
]
} |
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. | genomic_alterations | {
"id": 55164,
"name": "SHQ1",
"pos": [
10,
4
]
} | {
"id": "C0265965",
"name": "Dyskeratosis Congenita",
"pos": [
83,
22
]
} |
Gross morphological abnormalities of the kidney, including altered size, weight, texture, and color, are evident in LRRK2-/- mice at 3-4 months of age, along with increased accumulation of autofluorescent granules in proximal renal tubules. | NA | {
"id": 120892,
"name": "LRRK2",
"pos": [
116,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
73,
6
]
} |
The subjects with OTOG mutations have a moderate hearing impairment, which can be associated with vestibular dysfunction. | NA | {
"id": 340990,
"name": "OTOG",
"pos": [
18,
4
]
} | {
"id": "C4022757",
"name": "Moderate hearing impairment",
"pos": [
40,
27
]
} |
The highest odds for having bladder cancer following SH infection were observed among individuals with the CC genotypes for both NQO1 and SOD2 (OR [CI 95%] = 4.41 [2.32-8.38]). | genomic_alterations | {
"id": 6648,
"name": "SOD2",
"pos": [
138,
4
]
} | {
"id": "C0699885",
"name": "Carcinoma of bladder",
"pos": [
28,
14
]
} |
Nevertheless, in sporadic cases of MR, ARX mutations are extremely rare. | NA | {
"id": 170302,
"name": "ARX",
"pos": [
39,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
17,
8
]
} |
Common variants in the endothelial lipase gene (LIPG) have been reported to be associated with HDL-C levels and atherothrombosis, but these findings were not consistent. | genomic_alterations | {
"id": 9388,
"name": "LIPG",
"pos": [
48,
4
]
} | {
"id": "C1963943",
"name": "Atherothrombosis",
"pos": [
112,
16
]
} |
For accurate diagnosis and genetic counseling, screening for the DYT1 deletion is of great interest in cases with generalized dystonia without a family history. | genomic_alterations | {
"id": 1861,
"name": "TOR1A",
"pos": [
65,
4
]
} | {
"id": "C0013421",
"name": "Dystonia",
"pos": [
126,
8
]
} |
Patients with active lupus nephritis have increased T-bet and depressed GATA-3 expression in the urinary sediment and kidney tissue, indicating a predominant Th1 type of T-lymphocyte activation. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
158,
3
]
} | {
"id": "C0024143",
"name": "Lupus Nephritis",
"pos": [
21,
15
]
} |
And we also revealed some genetic events in the early stage of diabetic retinopathy including the de novo increment of GIP and GIPR expression in the retina. | NA | {
"id": 2696,
"name": "GIPR",
"pos": [
127,
4
]
} | {
"id": "C0011884",
"name": "Diabetic Retinopathy",
"pos": [
63,
20
]
} |
In contrast, OPG serum levels were in the normal range (5-100 ng/ml) indicating a non-systemic bone resorption. | NA | {
"id": 690,
"name": "BTF3P11",
"pos": [
13,
3
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
95,
15
]
} |
LRIG1 modulates cancer cell sensitivity to Smac mimetics by regulating TNFα expression and receptor tyrosine kinase signaling. | biomarker | {
"id": 26018,
"name": "LRIG1",
"pos": [
0,
5
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
16,
6
]
} |
It was concluded that high expression of ACAT-1 may accelerate the development of human atherogenesis, and leptin might participate in atherogenesis by increasing expression of ACAT-1. | NA | {
"id": 38,
"name": "ACAT1",
"pos": [
177,
4
]
} | {
"id": "C1563937",
"name": "Atherogenesis",
"pos": [
135,
13
]
} |
RBP4 -803GA polymorphism has increased risk of insulin resistance in HIV-infected patients with anti-retroviral therapy. | NA | {
"id": 5433,
"name": "POLR2D",
"pos": [
0,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
47,
18
]
} |
Here, we show that hypoxic and high glucose conditions (overnight exposure) potentiate the TRPV1 activity without affecting TRPV1 expression in both native rat sensory neurons and human embryonic kidney-derived 293 cells expressing rat or human TRPV1. | NA | {
"id": 7442,
"name": "TRPV1",
"pos": [
245,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
19,
7
]
} |
We have identified a novel p53 regulated gene designated DDA3 through differential mRNA display on IW32 erythroleukemia cells containing a temperature sensitive p53 allele, tsp53val-135. | NA | {
"id": 84722,
"name": "PSRC1",
"pos": [
57,
4
]
} | {
"id": "C0023440",
"name": "Acute Erythroblastic Leukemia",
"pos": [
104,
15
]
} |
Furthermore, the miR-21 induction by Akt2 during hypoxia depends upon the binding of NF-κB, cAMP responsive element-binding protein (CREB), and CBP/p300 to the miR-21 promoter, in addition to the regional acetylation of histone H3K9, all of which are under the control of Akt2. | NA | {
"id": 1387,
"name": "CREBBP",
"pos": [
144,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
49,
7
]
} |
Localized overexpression of FGF-2 and BDNF in hippocampus reduces mossy fiber sprouting and spontaneous seizures up to 4 weeks after pilocarpine-induced status epilepticus. | therapeutic | {
"id": 627,
"name": "BDNF",
"pos": [
38,
4
]
} | {
"id": "C0422853",
"name": "Olfactory seizure",
"pos": [
104,
8
]
} |
Combining recent in vivo modelling advancements in both HIV and gonococcal research, we developed a co-infection model by engrafting immunodeficient NSG mice with human CD34+ hematopoietic stem cells to generate humanized mice that permit both systemic HIV infection and genital N. gonorrhoeae infection. | biomarker | {
"id": 947,
"name": "CD34",
"pos": [
169,
4
]
} | {
"id": "C0019693",
"name": "HIV Infections",
"pos": [
253,
13
]
} |
We have recently shown that penta-1,2,3,4,6-O-galloyl-beta-D-glucose (PGG), a naturally occurring hydrolyzable gallotannin, inhibited the in vivo growth of human androgen-independent p53-mutant DU145 prostate cancer (PCa) xenograft in athymic nude mice without adverse effect on their body weight. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
183,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
285,
11
]
} |
We observed a synergistic effect of the combination of the two treatments in provoking apoptosis in glioblastoma cells with mutant p53. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
131,
3
]
} | {
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
100,
12
]
} |
Knockdown of NF-kappaB and AP-1 activities by adenovirus-mediated expression of an NF-kappaB super-repressor and RNA interference, respectively, decreased IL-8 expression in MDA-MB-231 cells. | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
155,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
46,
10
]
} |
OSM-induced biological effects on breast tumor-derived cell lines were specifically mediated through the gp130/OSMRbeta complex. | NA | {
"id": 3572,
"name": "IL6ST",
"pos": [
105,
5
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
34,
12
]
} |
RESULTS: After adjusting for age, drinking habits, smoking habits, body mass index, presence of liver cirrhosis, and serum levels of C-reactive protein, we found that total and differential leukocyte counts were lower in the presence of the ALDH2*1/*2 genotype (vs. ALDH2*1/*1 genotype). | NA | {
"id": 1401,
"name": "CRP",
"pos": [
133,
18
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
67,
15
]
} |
Side effects, such as fluid retention and heart weight gain associated with PPARγ full agonists, were diminished with 51 in comparison to rosiglitazone based on studies in two independent animal models. | NA | {
"id": 5468,
"name": "PPARG",
"pos": [
76,
5
]
} | {
"id": "C0043094",
"name": "Weight Gain",
"pos": [
48,
11
]
} |
GSTT1 wild genotype and C-allele of rs2228171 SNPs of megalin gene occurred with higher frequency in patients with ototoxicity (P=0.023; OR, 10; 95% CI, 1.80-56.00 and P=0.034; OR, 2.67; 95% CI, 1.22-5.82, respectively). | NA | {
"id": 4036,
"name": "LRP2",
"pos": [
54,
7
]
} | {
"id": "C0235280",
"name": "Ototoxicity",
"pos": [
115,
11
]
} |
We have previously identified the SE as a ligand that interacts with cell surface calreticulin (CRT) and activates immune dysregulation. | NA | {
"id": 811,
"name": "CALR",
"pos": [
96,
3
]
} | {
"id": "C1844666",
"name": "Immune dysregulation",
"pos": [
115,
20
]
} |
Human β-defensin-3 promotes intestinal epithelial cell migration and reduces the development of necrotizing enterocolitis in a neonatal rat model. | biomarker | {
"id": 414325,
"name": "DEFB103A",
"pos": [
6,
12
]
} | {
"id": "C0520459",
"name": "Necrotizing Enterocolitis",
"pos": [
96,
25
]
} |
Immunohistochemical analyses indicated that expression of GPX2 was significantly higher in residual cancer foci after neoadjuvant hormonal therapy than in hormone naive cancer foci. | NA | {
"id": 2877,
"name": "GPX2",
"pos": [
58,
4
]
} | {
"id": "C0242594",
"name": "Residual Cancer",
"pos": [
91,
15
]
} |
These data provide evidence for the role of SNPs spanning the ALOX5AP and LTA4H genes in asthma and atopy susceptibility in the Caucasian population and support a role for LTB(4) in disease pathogenesis. | NA | {
"id": 4050,
"name": "LTB",
"pos": [
172,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
100,
5
]
} |
HPT) is reported in an infant with hypotonia, feeding problems and constipation from birth. | NA | {
"id": 3258,
"name": "HPT",
"pos": [
0,
3
]
} | {
"id": "C0026827",
"name": "Muscle hypotonia",
"pos": [
35,
9
]
} |
All tumors demonstrated trisomy for 7 and 17 by fluorescence in situ hybridization analysis and uniform CK 7, CD10, and alpha-methylacyl-coenzyme A racemase expression, characteristic of PRCC. | NA | {
"id": 4311,
"name": "MME",
"pos": [
110,
4
]
} | {
"id": "C0041107",
"name": "Trisomy",
"pos": [
24,
7
]
} |
No oncogenic beta-catenin mutations were identified in 34 MSI+ and 78 microsatellite stable (MSI-) sporadic colorectal cancers but a raised mutation frequency (8/44, 18.2%) was found in HNPCC cancers; this frequency was significantly higher than that in HNPCC adenomas (p=0.035) and in both MSI- (p<0.0001) and MSI+ (p=0.008) sporadic cancers. | genomic_alterations | {
"id": 1499,
"name": "CTNNB1",
"pos": [
13,
12
]
} | {
"id": "C1333990",
"name": "Hereditary Nonpolyposis Colorectal Cancer",
"pos": [
186,
5
]
} |
Our study indicated that LOXL2 may promote VM formation and tumour metastasis by collaborating with SNAIL in HCC. | biomarker | {
"id": 6615,
"name": "SNAI1",
"pos": [
100,
5
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
60,
17
]
} |
A HO-1 gene promoter polymorphism was reported to be associated with the risks of lung adenocarcinoma and oral squamous cancer. | genomic_alterations | {
"id": 3162,
"name": "HMOX1",
"pos": [
2,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
120,
6
]
} |
There were no other significant organ abnormalities, no obvious dysmorphic features, neurodevelopment was normal, and all investigations, including mutation analysis of DLL3, MESP2, LFNG, and HES7, were normal. | NA | {
"id": 84667,
"name": "HES7",
"pos": [
192,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
38,
13
]
} |
Intrathecal administration of both IL-36R antagonist (IL-36Ra) and IL-36γ siRNA significantly attenuated CFA-induced chronic inflammatory pain behaviors. | biomarker | {
"id": 8808,
"name": "IL1RL2",
"pos": [
35,
6
]
} | {
"id": "C0234251",
"name": "Inflammatory pain",
"pos": [
125,
17
]
} |
Here we show that adenovirus-mediated p73 overexpression results in a strong induction of apoptosis, whereas the effect of p53 varies between different cell lines. | NA | {
"id": 7161,
"name": "TP73",
"pos": [
38,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
18,
10
]
} |
An adaptive and protective role of AQP4 to increase the resolution of the "hydrocephalic" edema at the BBB and blood-CSF interfaces is proposed in the pathophysiology of hydrocephalus. | NA | {
"id": 361,
"name": "AQP4",
"pos": [
35,
4
]
} | {
"id": "C0013604",
"name": "Edema",
"pos": [
90,
5
]
} |
Molecular biology and immunohistochemistry techniques were used to investigate the expression of a selected panel of motility-related proteins (Rho A, Rac 2, Cdc42, PI3K, 2E4, and Arp2) in normal, premalignant, and squamous cell cancer cell lines of human head and neck origin. | NA | {
"id": 10097,
"name": "ACTR2",
"pos": [
180,
4
]
} | {
"id": "C0032927",
"name": "Precancerous Conditions",
"pos": [
197,
12
]
} |
Apoprotein E polymorphism and coronary artery disease. Increased prevalence of apolipoprotein E-4 in angiographically verified coronary patients. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
79,
16
]
} | {
"id": "C0010054",
"name": "Coronary Arteriosclerosis",
"pos": [
30,
23
]
} |
The RhoGAP protein DLC-1 functions as a metastasis suppressor in breast cancer cells. | biomarker | {
"id": 8655,
"name": "DYNLL1",
"pos": [
19,
5
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
65,
13
]
} |
This pedigree, with a point mutation in FBN1, also draws attention to the potential for respiratory failure associated with myopathy. | genomic_alterations | {
"id": 2200,
"name": "FBN1",
"pos": [
40,
4
]
} | {
"id": "C1145670",
"name": "Respiratory Failure",
"pos": [
88,
19
]
} |
Multivariate Cox regression including all standard parameters among ER positive tumours revealed that Plexin B1 (HR 1.59, 95% confidence interval (CI) 1.03-2.47, p=0.036) remains a significant prognostic marker besides tumour size (HR 2.27, 95% CI 1.33-3.89, p=0.0028) and Ki67 (HR 1.78, 95% CI 1.12-2.84, p=0.0149). | NA | {
"id": 4288,
"name": "MKI67",
"pos": [
273,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
17,
10
]
} |
Inhibiting scar formation in vitro and in vivo by adenovirus-mediated mutant Smad4: a preliminary report. | therapeutic | {
"id": 4089,
"name": "SMAD4",
"pos": [
77,
5
]
} | {
"id": "C2004491",
"name": "Cicatrix",
"pos": [
11,
4
]
} |
We found that the D816V-mutated variant of KIT, a TK detectable in most patients with systemic mastocytosis, induces cluster formation and expression of several mast cell differentiation and adhesion Ags, including microphthalmia transcription factor, IL-4 receptor, histamine, CD63, and ICAM-1 in IL-3-dependent BaF3 cells. | NA | {
"id": 3562,
"name": "IL3",
"pos": [
298,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
191,
8
]
} |
Influence of CYP1A1, GSTM1, GSTT1, and NQO1 genotypes and cumulative smoking dose on lung cancer risk in a Swedish population. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
21,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
69,
7
]
} |
In 2009, the first patient with sennetsu was identified in the Lao PDR (Laos), raising the question as to how common this organism and related species are in patients presenting with fever. | genomic_alterations | {
"id": 5171,
"name": "PDR",
"pos": [
67,
3
]
} | {
"id": "C0015967",
"name": "Fever",
"pos": [
183,
5
]
} |
Normalization of blood pressure and plasma concentrations of beta-endorphin and leucine-enkephalin in patients with primary hypertension after treatment with clonidine. | NA | {
"id": 5443,
"name": "POMC",
"pos": [
61,
14
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
17,
14
]
} |
Changes in the expression of genes related to neuroinflammation over the course of sporadic Alzheimer's disease progression: CX3CL1, TREM2, and PPARγ. | NA | {
"id": 54209,
"name": "TREM2",
"pos": [
133,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
83,
8
]
} |
FISH analyses showed three cases with more than one rearrangement: one MYC/BCL2 and two BCL2/BCL6, in addition to which one case with BCL2/IGH translocation and another with MYC rearrangement were also detected. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
0,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
143,
13
]
} |
In cultured human umbilical vein endothelial cells (HUVECs), we studied the role of HuR, an ELAV (embryonic lethal, abnormal vision, Drosophila) family RNA-binding protein, and Sirtuin 1 (SIRT1) on E-selectin release and cell adhesion at different glucose concentrations. | NA | {
"id": 6401,
"name": "SELE",
"pos": [
198,
10
]
} | {
"id": "C3665386",
"name": "Abnormal vision",
"pos": [
116,
15
]
} |
Further, the role of CTSX in the adhesion and invasion of the colon carcinoma cell lines HT-29 and HCT116 was investigated in an in vitro culture cell system with fibroblasts and monocytes, reflecting the situation at the tumor invasion front. | NA | {
"id": 1522,
"name": "CTSZ",
"pos": [
21,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
33,
8
]
} |
The low-density lipoprotein receptor-related protein 5 (LRP5) gene, essential for glucose and cholesterol metabolism, may have a role in the aetiology of obesity, an important risk factor for diabetes. | genomic_alterations | {
"id": 4041,
"name": "LRP5",
"pos": [
56,
4
]
} | {
"id": "C0011847",
"name": "Diabetes",
"pos": [
192,
8
]
} |
Applying the statistical GISTIC (Genomic Identification of Significant Targets in Cancer) tool we identified potential novel candidate tumor suppressor- (DBC1, FHIT, PPP2R2A) and oncogenes (LYN, FGF19, GRB7, PTPN1) within these regions of chromosomal instability. | NA | {
"id": 4067,
"name": "LYN",
"pos": [
190,
3
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
239,
23
]
} |
c-Met was coimmunoprecipitated with E-cadherin, Desmoglein 1 and Plakoglobin, suggesting that they form a complex (es) that acts to regulate intercellular adhesion. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
36,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
155,
8
]
} |
Here we describe an alpha thalassaemia mutation associated with terminal truncation of the short arm of chromosome 16 (within band 16p13-3) to a site 50 kb distal to the alpha globin genes, and show that (TTAGGG)n has been added directly to the site of the break. | genomic_alterations | {
"id": 3039,
"name": "HBA1",
"pos": [
170,
12
]
} | {
"id": "C1456873",
"name": "alpha^+^ Thalassemia",
"pos": [
20,
18
]
} |
The expression of NR2B and GluR1 in CA1 and CA3 regions of the hippocampus decreased in FGR group, then the their expressions in the CA1 region increased after training in both FGR and control groups, and the increment was especially obvious in GluR1 expression in the CA1 region at postnatal month 2. | therapeutic | {
"id": 2904,
"name": "GRIN2B",
"pos": [
18,
4
]
} | {
"id": "C0015934",
"name": "Fetal Growth Retardation",
"pos": [
88,
3
]
} |
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": "C0018598",
"name": "Melanoma, Harding-Passey",
"pos": [
115,
8
]
} |
In the present work, a cooperative interaction between hypoxia, mediated by the HIF-1 complex, and transforming growth factor-beta (TGF-beta), mediated by Smad3/4, was revealed in the Epo gene. | NA | {
"id": 4088,
"name": "SMAD3",
"pos": [
155,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
55,
7
]
} |
Our findings indicate that a hypoxic microenvironment may upgrade the stem-like biological properties of laryngeal cancer cell lines by the expansion of the CD133(+) stem cell fraction. | NA | {
"id": 8842,
"name": "PROM1",
"pos": [
157,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
29,
7
]
} |
Our results reveal mechanistic details of how common coding mutations in PDX1 impair human pancreatic endocrine lineage formation and β-cell function and contribute to the predisposition for diabetes. | genomic_alterations | {
"id": 3651,
"name": "PDX1",
"pos": [
73,
4
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
191,
8
]
} |
TXS tissue expression was higher in adenocarcinoma (p < 0.001) and female patients (p < 0.05). | NA | {
"id": 6916,
"name": "TBXAS1",
"pos": [
0,
3
]
} | {
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
36,
14
]
} |
Apolipoprotein A-I and adenosine triphosphate-binding cassette transporter A1 expression alleviates lipid accumulation in hepatocytes. | NA | {
"id": 335,
"name": "APOA1",
"pos": [
0,
18
]
} | {
"id": "C1837257",
"name": "Lipid accumulation in hepatocytes",
"pos": [
100,
33
]
} |
No pathogenic sequence variations were detected in TGFBI or ZEB1 of the proband nor on the Asper Corneal Dystrophy gene chip (302 mutations in 12 genes). | genomic_alterations | {
"id": 6935,
"name": "ZEB1",
"pos": [
60,
4
]
} | {
"id": "C0010036",
"name": "Corneal dystrophy",
"pos": [
97,
17
]
} |
Human T lymphotrophic virus type-I (HTLV-I), a human retrovirus, infects CD4(+) lymphocytes and is thought to modify their function and a possible association with pulmonary diseases has also been suggested. | NA | {
"id": 920,
"name": "CD4",
"pos": [
73,
3
]
} | {
"id": "C0024115",
"name": "Lung diseases",
"pos": [
164,
18
]
} |
Quantitative RT-PCR analysis of the 4 genes showed reduced expression of 2 genes in cancers: Insulin-induced protein 1 (INSIG1/CL-6) and p41 Arp2/3 complex (p41-Arc). | NA | {
"id": 10095,
"name": "ARPC1B",
"pos": [
157,
7
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
84,
7
]
} |
The results showed that Chinese with ADD1 rs4963 polymorphism showed an increased hypertension risk (OR = 1.28; 95%CI, 1.09-1.51; P = 0.003). | genomic_alterations | {
"id": 118,
"name": "ADD1",
"pos": [
37,
4
]
} | {
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
82,
12
]
} |
We cultured the two cell lines under hypoxia and normoxia and examined the influence of hypoxia on the expression of hypoxia-inducible factors (HIFs) and the cancer stem-like properties of these cells, including cell cycle distribution, expression of stem cell genes (OCT4, SOX2 and NANOG) and laryngeal CSC surface marker (CD133), proliferation, invasion, colony formation and sphere formation capacity. | NA | {
"id": 8842,
"name": "PROM1",
"pos": [
324,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
117,
7
]
} |
Association of genetic polymorphisms in vitamin D receptor gene and susceptibility to sporadic prostate cancer. | NA | {
"id": 7421,
"name": "VDR",
"pos": [
40,
18
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
86,
8
]
} |
Nonetheless, we highlight DCA as a potentially effective drug for the management of elevated lactate and cardiomyopathy in patients with pathogenic FBXL4 variants. | genomic_alterations | {
"id": 26235,
"name": "FBXL4",
"pos": [
148,
5
]
} | {
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
105,
14
]
} |
After a two-phase selection and validation process, 14 miRNAs were found to exhibit significantly different expression profiles in meningioma samples compared to normal adjacent tissue (NAT) samples. | NA | {
"id": 6046,
"name": "BRD2",
"pos": [
186,
3
]
} | {
"id": "C0025286",
"name": "Meningioma",
"pos": [
131,
10
]
} |
This implies the control of ABCG2 expression may be a potential solution to enhance photosensitivity. | NA | {
"id": 9429,
"name": "ABCG2",
"pos": [
28,
5
]
} | {
"id": "C0349506",
"name": "Photosensitivity of skin",
"pos": [
84,
16
]
} |
I-type insulin-like growth factor receptor (IGF1R), hepatocyte growth factor receptor (HGFR), telomerase reverse transcriptase (TERT) and telomerase associated protein (TP-1) expression were evaluated immunohistochemically on biopsy specimens from 11 mild, 11 moderate and 12 severe active inflammation of UC cases and from 10 normal colonic tissue cases. | NA | {
"id": 4233,
"name": "MET",
"pos": [
87,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
251,
4
]
} |
These benefits were observed regardless of p16 status for oropharynx carcinomas. | biomarker | {
"id": 1029,
"name": "CDKN2A",
"pos": [
43,
3
]
} | {
"id": "C0549523",
"name": "Oropharynx (excludes nasopharynx)",
"pos": [
58,
10
]
} |
Recognized precursor lesions for gastric adenocarcinoma are intestinal metaplasia and spasmolytic polypeptide expressing metaplasia (SPEM), defined here by ectopic CDX2 and TFF2 expression, respectively. | NA | {
"id": 7032,
"name": "TFF2",
"pos": [
173,
4
]
} | {
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
33,
22
]
} |
119 healthy, unrelated controls, 95 patients with Crohn's disease and 93 patients with ulcerative colitis were genotyped for the (G to A) -308 TNF-alpha promoter polymorphism on chromosome 6, the codon 497 EGFR polymorphism on chromosome 7 and the TaqI polymorphism of the VDR gene on chromosome 12. | genomic_alterations | {
"id": 7124,
"name": "TNF",
"pos": [
143,
9
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
50,
15
]
} |
This protective effect is associated with reduced FoxO1 acetylation and activation of Sirt1, suggesting that Sirt1 may serve as a potential therapeutic target of cardiomyocyte hypertrophy. | NA | {
"id": 23411,
"name": "SIRT1",
"pos": [
109,
5
]
} | {
"id": "C4227331",
"name": "Cardiomyocyte hypertrophy",
"pos": [
162,
25
]
} |
Pathological findings in patients with MIA and MIA associated with combined immunodeficiency include abnormalities of enterocyte apicobasal polarity, increased apoptosis of intestinal cells, decreased proliferation of intestinal crypts, and defects of thymic architecture associated with lymphoid depletion. | NA | {
"id": 8190,
"name": "MIA",
"pos": [
47,
3
]
} | {
"id": "C1845609",
"name": "Lymphoid depletion",
"pos": [
288,
18
]
} |
We conclude that simvastatin attenuated neuropathic pain in rats subjected to CCI by inhibiting actin-mediated intracellular trafficking to suppress RhoA/LIMK/cofilin pathway activity. | NA | {
"id": 3984,
"name": "LIMK1",
"pos": [
154,
4
]
} | {
"id": "C0027796",
"name": "Neuralgia",
"pos": [
40,
16
]
} |
Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes. | genomic_alterations | {
"id": 3039,
"name": "HBA1",
"pos": [
86,
12
]
} | {
"id": "C1456873",
"name": "alpha^+^ Thalassemia",
"pos": [
0,
17
]
} |
Raf-1 protein is a potential target for gastric cancer biological therapy. | biomarker | {
"id": 6037,
"name": "RNASE3",
"pos": [
0,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
40,
14
]
} |
Taken together, our findings demonstrated that miR-204 may act as a tumor suppressor in H. pylori induced gastric cancer by targeting SOX4. | biomarker | {
"id": 406987,
"name": "MIR204",
"pos": [
47,
7
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
68,
5
]
} |
Nonsyncytium-inducing, CCR5-dependent viruses predominated in patients of clinical stage B even in some with a high viral load and were detected in about 50% of the patients of stage C. All syncytium-inducing strains, mostly from AIDS patients, used both CCR5 and CXCR4. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
264,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
116,
10
]
} |
The presence of GG allele of the SNP rs2228570 of VDR gene, SNPs rs4588 of GC gene and CYP2R1 rs10741657 gene was associated with vitamin D deficiency. | genomic_alterations | {
"id": 7421,
"name": "VDR",
"pos": [
50,
3
]
} | {
"id": "C0042870",
"name": "Vitamin D Deficiency",
"pos": [
130,
20
]
} |
Mutations were identified in the three genes in four affected individuals, three sporadic cases and one with family history of HNP. | NA | {
"id": 11202,
"name": "KLK8",
"pos": [
127,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
81,
8
]
} |
Docetaxel and epirubicin supported by granulocyte colony-stimulating factor first-line in advanced breast cancer. | therapeutic | {
"id": 1440,
"name": "CSF3",
"pos": [
38,
37
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
99,
13
]
} |
mRNA isolated from immunomagnetically enriched CTCs was subjected to multiplex PCR for KRT19 (keratin 19; also known as CK19), ERBB2 [v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian); also known as HER2], SCGB2A2 (secretoglobin, family 2A, member 2; also known as MGB1, mammaglobin A), MAGEA3 (melanoma antigen family A, 3), TWIST-1 [twist homolog 1 (Drosophila)], and HMBS (hydroxymethylbilane synthase; also known as PBGD). | NA | {
"id": 3880,
"name": "KRT19",
"pos": [
94,
10
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
356,
8
]
} |
Monoallelic ATR gene targeting in MLH1-deficient HCT 116 colon carcinoma cells resulted in hypersensitivity to genotoxic stress accompanied by dramatic increases in fragile site instability, and chromosomal amplifications and rearrangements. | NA | {
"id": 4292,
"name": "MLH1",
"pos": [
34,
4
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
91,
16
]
} |
We have previously described 2 strains of New Zealand White rabbits with a high (HAR) or low (LAR) atherosclerotic response to hypercholesterolemia. | NA | {
"id": 5792,
"name": "PTPRF",
"pos": [
94,
3
]
} | {
"id": "C0020443",
"name": "Hypercholesterolemia",
"pos": [
127,
20
]
} |
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