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In this study, we used spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) as complementary techniques for the analysis of two therapy-related secondary myelodysplastic syndrome (t-MDS) cases with complex karyotypes, previously analyzed by G-banding. | NA | {
"id": 57465,
"name": "TBC1D24",
"pos": [
45,
3
]
} | {
"id": "C0280745",
"name": "secondary myelodysplastic syndromes",
"pos": [
164,
34
]
} |
The p54 cleaved form of the tyrosine kinase Lyn generated by caspases during BCR-induced cell death in B lymphoma acts as a negative regulator of apoptosis. | biomarker | {
"id": 4067,
"name": "LYN",
"pos": [
44,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
105,
8
]
} |
Our objective in this study was to investigate whether polymorphisms in the regulatory regions of IL10, IL6 and IFNgamma genes are associated with the development of primary cutaneous melanoma and/or the prognosis of this tumour. | genomic_alterations | {
"id": 3458,
"name": "IFNG",
"pos": [
112,
8
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
174,
18
]
} |
We examined possible role of G-->T substitution in transcription factor Sp1 binding site in the gene encoding alpha-1 chain of type I collagen (COL1A1) in the development of pelvic organ prolapse. | NA | {
"id": 6667,
"name": "SP1",
"pos": [
51,
24
]
} | {
"id": "C0877015",
"name": "Pelvic Organ Prolapse",
"pos": [
174,
21
]
} |
By grafting the GCT onto the chick CAM, we confirmed the inhibitory effect of miR-106b on RANKL expression and giant cell formation. | biomarker | {
"id": 79823,
"name": "CAMKMT",
"pos": [
35,
3
]
} | {
"id": "C0220620",
"name": "Gastrointestinal Carcinoid Tumor",
"pos": [
16,
3
]
} |
We suggest that SDHD alterations can affect mitochondrial respiratory chain functions and play a role in colorectal and gastric cancers as a distinct type of tumor suppressor. | genomic_alterations | {
"id": 6392,
"name": "SDHD",
"pos": [
16,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
158,
5
]
} |
This meta-analysis suggests that the CYP2E1 RsaI/PstI polymorphisms are a risk factor for developing oral cancer. | genomic_alterations | {
"id": 1571,
"name": "CYP2E1",
"pos": [
37,
6
]
} | {
"id": "C0153381",
"name": "Malignant neoplasm of mouth",
"pos": [
101,
11
]
} |
Common polymorphism of the apolipoprotein A5 gene (APOA5, c.553G>T) related to metabolic syndrome components, insulin resistance, and carotid atherosclerosis remains unclear. | NA | {
"id": 116519,
"name": "APOA5",
"pos": [
51,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
110,
18
]
} |
HIF-1α-targeted siRNA enhanced radiation treatment efficacy under severely hypoxic conditions compared to tumor cells treated with scrambled control siRNA. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
0,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
75,
7
]
} |
Microglial BDNF, PI3K, and p-ERK in the Spinal Cord Are Suppressed by Pulsed Radiofrequency on Dorsal Root Ganglion to Ease SNI-Induced Neuropathic Pain in Rats. | biomarker | {
"id": 5594,
"name": "MAPK1",
"pos": [
29,
3
]
} | {
"id": "C1258666",
"name": "Myxoid cyst",
"pos": [
107,
8
]
} |
Urocortin and hydralazine both produced a significant fall in blood pressure compared to controls, with mean arterial pressure 2 h after carrageenin injection falling to 51.0 +/- 4.1 (p < 0.001) and 34.6 +/- 4.6 (p < 0.001) vs. 92.9 +/- 3.7 mm Hg in controls, respectively. | NA | {
"id": 7349,
"name": "UCN",
"pos": [
0,
9
]
} | {
"id": "C0085639",
"name": "Falls",
"pos": [
54,
4
]
} |
These results suggest that the BDNF Val66Met polymorphism may contribute to alcohol dependence vulnerability via lower EFs performance. | genomic_alterations | {
"id": 627,
"name": "BDNF",
"pos": [
31,
4
]
} | {
"id": "C0001973",
"name": "Alcoholic Intoxication, Chronic",
"pos": [
76,
18
]
} |
Targeted therapy may be useful for patients with CJM, especially those with activating BRAF mutations, whereas NRAS-mutated melanomas are relatively resistant. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
111,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
124,
9
]
} |
We hypothesized that mutations in PTEN (a cause of HMEG associated with Proteus syndrome), TSC1 or TSC2 (tuberous sclerosis complex) genes, which are known to modulate beta-catenin and mTOR signaling could cause sporadic HMEG. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
34,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
212,
8
]
} |
Review confirms the data of previous reviews that GSTM1 and GSTT1 gene polymorphisms may be risk factors for cancer initiation. | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
60,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
109,
6
]
} |
The co-expression of NRP1 and NRP2 genes is significantly correlated with tumor progression through neovascularization in NSCLC. | NA | {
"id": 4753,
"name": "NELL2",
"pos": [
30,
4
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
100,
18
]
} |
A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene. | genomic_alterations | {
"id": 5167,
"name": "ENPP1",
"pos": [
133,
5
]
} | {
"id": "C3536983",
"name": "Familial Hypophosphatemic Rickets",
"pos": [
15,
24
]
} |
These results suggest that osteosclerosis in IMF may be related to overproduction of OPG and enhanced level of OPG is not due to the effect of TGF-beta1 on the BMS cells. | NA | {
"id": 690,
"name": "BTF3P11",
"pos": [
111,
3
]
} | {
"id": "C0029464",
"name": "Osteosclerosis",
"pos": [
27,
14
]
} |
Together, these data reveal Ier2 as a new player in the regulation of tumor progression and metastasis, and suggest that Ier2 may be useful prognostically and therapeutically in the management of cancer. | biomarker | {
"id": 9592,
"name": "IER2",
"pos": [
28,
4
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
70,
17
]
} |
RDX8940 pharmacokinetics and effects on GLP secretion, insulin sensitivity, and liver steatosis were assessed in C57BL/6 mice fed normal or Western diet chow and given single or repeated doses of RDX8940 or vehicle, with or without dipeptidyl peptidase-4 (DPP4) inhibitors. | biomarker | {
"id": 1803,
"name": "DPP4",
"pos": [
256,
4
]
} | {
"id": "C2711227",
"name": "Steatohepatitis",
"pos": [
80,
15
]
} |
Gene gun particle encoding preproenkephalin cDNA produces analgesia against capsaicin-induced bladder pain in rats. | therapeutic | {
"id": 5179,
"name": "PENK",
"pos": [
27,
16
]
} | {
"id": "C0458259",
"name": "Pain, Crushing",
"pos": [
94,
12
]
} |
To study the utilization of CD40 for gene delivery, we precomplexed a luciferase coding adenovirus (Ad), Ad5luc1, with a CD40-targeting molecule (CAR/G28). | NA | {
"id": 958,
"name": "CD40",
"pos": [
121,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
88,
10
]
} |
In this study, we investigated the relative levels of the sterol transporters ABCA1, ABCG5, and ABCG8 in human gallbladders in CAGD, and the relationship between ABCA1 and inflammation. | NA | {
"id": 64240,
"name": "ABCG5",
"pos": [
85,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
172,
12
]
} |
Recent studies have shown a strong correlation between high-grade cervical lesions and abnormalities of TERC. | NA | {
"id": 7012,
"name": "TERC",
"pos": [
104,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
87,
13
]
} |
The boy manifested, due to nullisomy of this region, short stature (SHOX), chondrodysplasia punctata (ARSE), and mental retardation (putative mental retardation gene MRX 49). | genomic_alterations | {
"id": 1183,
"name": "CLCN4",
"pos": [
166,
6
]
} | {
"id": "C0025362",
"name": "Mental Retardation",
"pos": [
113,
18
]
} |
Cytogenetic analysis and fluorescent in situ hybridization (FISH) indicated an unbalanced translocation of chromosomes 8q and 11q, resulting in monosomy 11q23.3-qter and trisomy 8q24.3-qter. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
60,
4
]
} | {
"id": "C0026499",
"name": "Monosomy",
"pos": [
144,
8
]
} |
Compared to wild type animals, FcgammaRIIb deficient mice mount a vigorous allergic lung inflammation characterized by increased bronchoalveolar lavage fluid cellularity, eosinophilia and mucin content upon ragweed extract (RWE) challenge. | biomarker | {
"id": 2213,
"name": "FCGR2B",
"pos": [
31,
11
]
} | {
"id": "C3714636",
"name": "Pneumonitis",
"pos": [
84,
17
]
} |
INTRODUCTION: Our objective was to investigate the association between gene polymorphisms of folate cycle (MTHFR 677 C>T, MTHFR 1298 A>C, MTR 2756 A>G, and MTRR 66 A>G) and the risk of pulmonary embolism (PE) in a case-control study. | NA | {
"id": 4548,
"name": "MTR",
"pos": [
138,
3
]
} | {
"id": "C0034065",
"name": "Pulmonary Embolism",
"pos": [
185,
18
]
} |
We conducted an in silico analysis to compare KLLN expression in normal prostate and matched primary carcinoma tissues. | NA | {
"id": 100144748,
"name": "KLLN",
"pos": [
46,
4
]
} | {
"id": "C1335475",
"name": "Primary Carcinoma",
"pos": [
93,
17
]
} |
Positive and negative predictive values for a recently suggested threshold serum level of endoxifen (5.97 ng/mL) for breast cancer recurrence rate were 100 and 90%, respectively, for both CYP2D6 phenotype by DM-BT (delta-over-baseline at t = 50 min (DOB(50)) values of 0.7-0.9) and genotype (CYP2D6 gene activity score of 1.0). | genomic_alterations | {
"id": 1565,
"name": "CYP2D6",
"pos": [
292,
6
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
117,
13
]
} |
Recently, a cell cycle checkpoint pathway involving p53 and GADD45 has been identified as defective in ataxia-telangiectasia. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
52,
3
]
} | {
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
110,
14
]
} |
In metastatic carcinoma, however, there was significant overexpression of TRAIL/its receptors in TIL associated with a higher frequency of apoptotic cell death detected by TUNEL. | NA | {
"id": 7096,
"name": "TLR1",
"pos": [
97,
3
]
} | {
"id": "C1384494",
"name": "Metastatic Carcinoma",
"pos": [
3,
20
]
} |
These findings suggest that TRIM32 is a novel oncogene that promotes tumor growth, metastasis, and resistance to anticancer drugs. | NA | {
"id": 22954,
"name": "TRIM32",
"pos": [
28,
6
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
83,
10
]
} |
As cell-cycle dysregulation is a core event in neoplastic transformation, the role for SOX10 in maintaining cell-cycle control in melanocytes suggests a rational new direction for targeted treatment or prevention of melanoma. | NA | {
"id": 6663,
"name": "SOX10",
"pos": [
87,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
47,
25
]
} |
Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia characterized by enchondroma-like lesions and anisospondyly. | NA | {
"id": 1825,
"name": "DSC3",
"pos": [
29,
3
]
} | {
"id": "C0029422",
"name": "Osteochondrodysplasias",
"pos": [
44,
18
]
} |
BET Bromodomain Inhibition Synergizes with PARP Inhibitor in Epithelial Ovarian Cancer. | biomarker | {
"id": 92737,
"name": "DNER",
"pos": [
0,
3
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
61,
25
]
} |
Together, these results indicate that obesity and endotoxemia favor the development of adipose tissue fibrosis, a condition associated with insulin resistance, through immune cell Toll-like receptor 4. | NA | {
"id": 7099,
"name": "TLR4",
"pos": [
180,
20
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
140,
18
]
} |
The mechanisms by which mutations within the 5' untranslated region (UTR) of the human beta-globin gene (HBB) cause thalassaemia are currently not well understood. | NA | {
"id": 8170,
"name": "SLC14A2",
"pos": [
69,
3
]
} | {
"id": "C0039730",
"name": "Thalassemia",
"pos": [
116,
12
]
} |
Clinical characteristics of CGN (nephritis, debute, its clinical and morphological variants, analysis of the clinical course as regards arterial hypertension severity, rate of persistence of proteinuria (PU) of the nephrotic level for 6 months and longer, frequency of AH combination with persistent PU was made retrospectively in the groups of patients by genotypes of the genes ACE, CYP11B2 and NOS3. | NA | {
"id": 342977,
"name": "NANOS3",
"pos": [
397,
4
]
} | {
"id": "C0027697",
"name": "Nephritis",
"pos": [
33,
9
]
} |
Using this approach, we further reexamined 9 sporadic KCOTs that were previously reported to lack PTCH1 mutations by our group. | NA | {
"id": 5727,
"name": "PTCH1",
"pos": [
98,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
45,
8
]
} |
Unusual phenotypes in autosomal dominant forms of deafness, include low frequency hearing loss in DFNA1 (HDIA1) and DFNA6/14/38 (WFS1), mid-frequency hearing loss in DFNA8/12 (TECTA), DFNA13 (COL11A2) and vestibular symptoms and signs in DFNA9 (COCH) and sometimes in DFNA11 (MYO7A). | NA | {
"id": 1302,
"name": "COL11A2",
"pos": [
192,
7
]
} | {
"id": "C0011053",
"name": "Deafness",
"pos": [
50,
8
]
} |
In addition, our findings suggest that the combination of Ex4 + 119G > C TP53 and -710 C/T VEGFR1 genotypes confers a higher risk to develop BC. | genomic_alterations | {
"id": 2321,
"name": "FLT1",
"pos": [
94,
6
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
144,
2
]
} |
Genetic heterogeneity between type 1a and type 1b insulin-dependent diabetes mellitus: HLA class II and TAP gene analysis. | genomic_alterations | {
"id": 8615,
"name": "USO1",
"pos": [
104,
3
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
50,
35
]
} |
Partial merosin deficiency can present with a mild, late-onset limb-girdle-type pattern of weakness, with or without epilepsy, and pathologically may exhibit features observed in inclusion-body myopathy. | NA | {
"id": 3908,
"name": "LAMA2",
"pos": [
8,
7
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
46,
4
]
} |
Patients with "pure" cerebellar syndrome were diagnosed as autosomal dominant cerebellar ataxia III (ADCA III) or "pure idiopathic" late-onset cerebellar ataxia (ILOCA) in this series. | NA | {
"id": 5173,
"name": "PDYN",
"pos": [
101,
4
]
} | {
"id": "C0393524",
"name": "Cerebellar Ataxia, Late Onset",
"pos": [
132,
28
]
} |
Here we examine polymorphisms in the DRD2 and DRD4 genes with respect to body mass index (BMI) and height among men in two populations of Ariaal pastoralists, one recently settled (n = 87) and the other still nomadic (n = 65). | NA | {
"id": 1813,
"name": "DRD2",
"pos": [
37,
4
]
} | {
"id": "C0489786",
"name": "Height",
"pos": [
99,
6
]
} |
In all SAMP strains except SAMP8, we detected a p.R473W missense mutation in the Ldb3 gene, which has been associated with myofibrillar myopathy. | NA | {
"id": 7511,
"name": "XPNPEP1",
"pos": [
7,
4
]
} | {
"id": "C2678065",
"name": "Myofibrillar Myopathy",
"pos": [
123,
21
]
} |
After exposure to 75% oxygen for 5 days (postnatal day [P] 7-P12) and subsequently to room air for the next 9 days (P13-P21), we evaluated retinal vascular morphology by ADPase staining in retinal whole mounts, retinal neovascularization response by histochemistry in serial retinal sections, and retinal VEGF gene expression by real-time PCR analysis in A(2A)R knockout (KO) mice and their wild-type (WT) littermates. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
120,
3
]
} | {
"id": "C0035320",
"name": "Retinal Neovascularization",
"pos": [
211,
26
]
} |
Our results demonstrate that the interleukin 6 -174 GG and GC genotypes increase the risk of the diffuse type gastric carcinoma, but not the intestinal type gastric carcinoma or its precursor conditions, including atrophy or intestinal metaplasia. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
33,
13
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
214,
7
]
} |
Association of PTEN mutation with HPV-negative adenocarcinoma of the uterine cervix. | genomic_alterations | {
"id": 5728,
"name": "PTEN",
"pos": [
15,
4
]
} | {
"id": "C0279672",
"name": "Cervical Adenocarcinoma",
"pos": [
47,
36
]
} |
Also, a recent study in twins with MS supports the notion that vitamin D levels are under regulation by genetic variation in the 1alpha-hydroxylase and vitamin D receptor genes, perhaps pointing to their importance in the disease pathogenesis. | genomic_alterations | {
"id": 7421,
"name": "VDR",
"pos": [
152,
18
]
} | {
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
35,
2
]
} |
We herewith demonstrate that treatment with Zn-MT-II significantly decreased the CNS expression of IL-6 and TNF-alpha during EAE. | therapeutic | {
"id": 7124,
"name": "TNF",
"pos": [
108,
9
]
} | {
"id": "C0014072",
"name": "Experimental Autoimmune Encephalomyelitis",
"pos": [
125,
3
]
} |
This may account for the mild bleeding phenotype of the BSS variant characterized by a non-sense mutation in GPIX. | NA | {
"id": 2815,
"name": "GP9",
"pos": [
109,
4
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
30,
8
]
} |
Mapping of the 7q31 subregion common to the small chromosome 7 derivatives from two sporadic papillary renal cell carcinomas: increased copy number and overexpression of the MET proto-oncogene. | NA | {
"id": 4233,
"name": "MET",
"pos": [
174,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
84,
8
]
} |
Of the translocation-positive cases, all showed nuclear reactivity toward PAX5, and both the translocation-negative cases did not. | NA | {
"id": 5079,
"name": "PAX5",
"pos": [
74,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
93,
13
]
} |
Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. | biomarker | {
"id": 113278,
"name": "SLC52A3",
"pos": [
35,
5
]
} | {
"id": "C0027765",
"name": "nervous system disorder",
"pos": [
65,
21
]
} |
We show that even mild renal failure blunts erythropoietin production and propose the HBS1L-MYB locus as a regulator of erythropoietin. | NA | {
"id": 4602,
"name": "MYB",
"pos": [
92,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
18,
4
]
} |
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome. | NA | {
"id": 4920,
"name": "ROR2",
"pos": [
52,
9
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
90,
4
]
} |
This finding prompted us to evaluate the risk of either mild phenylketonuria or mild hyperphenylalaninemia in the parent population whose children were diagnosed with hyperphenylalaninemia (HPA). | NA | {
"id": 10855,
"name": "HPSE",
"pos": [
190,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
80,
4
]
} |
Suppression of endosome acidification or endocytosis by inhibitors or by an Eps15 dominant negative mutant reduced the infectivity of mNDK in which CD4-dependent infections were not significantly impaired. | NA | {
"id": 2060,
"name": "EPS15",
"pos": [
76,
5
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
162,
10
]
} |
The mRNA localizations of gelatinase A(MMP-2) and type I carcinoma and non-neoplastic fibrous granulation tissue were compared. | NA | {
"id": 4313,
"name": "MMP2",
"pos": [
26,
12
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
71,
14
]
} |
], MAGE-4, MAGE-10, MAGE-12, B melanoma antigen, CTL-recognized antigen melanoma antigen (CT antigen 2) [LAGE], New York esophageal squamous cell carcinoma antigen (CT antigen 1) [NYESO-1], and preferentially expressed antigen of melanoma [PRAME]) in surgical samples of the tumors, margins, and lymph nodes (when present) from patients with a diagnosis of head and neck carcinoma. | NA | {
"id": 574,
"name": "BAGE",
"pos": [
29,
18
]
} | {
"id": "C3887461",
"name": "Head and Neck Carcinoma",
"pos": [
357,
23
]
} |
Gene-gene interaction effects were analyzed using entropy-based multifactor dimensionality reduction (MDR), classification and regression tree (CART), and traditional multiple regression models. | NA | {
"id": 9607,
"name": "CARTPT",
"pos": [
144,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
127,
10
]
} |
DeltaFosB induction in orbitofrontal cortex mediates tolerance to cocaine-induced cognitive dysfunction. | therapeutic | {
"id": 2354,
"name": "FOSB",
"pos": [
5,
4
]
} | {
"id": "C0236736",
"name": "Cocaine-Related Disorders",
"pos": [
82,
21
]
} |
In Trp64Arg polymorphism of the beta3-AR gene, the number of obese subjects with Trp/Arg or Arg/Arg genotypes was significantly higher than that of the non-obese subjects (chi2=5.79, P=0.02). | NA | {
"id": 27319,
"name": "BHLHE22",
"pos": [
32,
5
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
156,
5
]
} |
Other genes are implicated in signal transduction (ITGAV) or tumorigenesis (AF1q). | NA | {
"id": 10962,
"name": "MLLT11",
"pos": [
76,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
61,
13
]
} |
The expression of estrogen receptor (ER), progesterone receptor (PR), HER2, HER4, and cystatin M was retrospectively analyzed using immunohistochemistry in 117 patients with ductal carcinoma in situ (DCIS) and in 175 patients with invasive breast cancer (IBC). | biomarker | {
"id": 5241,
"name": "PGR",
"pos": [
42,
21
]
} | {
"id": "C0007124",
"name": "Noninfiltrating Intraductal Carcinoma",
"pos": [
174,
24
]
} |
We therefore studied HIF-1α overexpression in ductal carcinoma in situ (DCIS), an established precursor of invasive breast cancer.We used immunohistochemistry to examine the expression of the hypoxia markers HIF-1α, CAIX and Glut-1 in DCIS and available invasive carcinoma lesions of 32 BRCA1, 16 BRCA2 and 77 non-BRCA mutation-related cases. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
287,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
192,
7
]
} |
The PI3K/Akt and MAP kinase pathways play important roles in a variety of normal cellular processes and tumorigenesis. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
4,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
104,
13
]
} |
Significant overexpression of Emi1 protein was present in 82% (27/33) clear cell carcinoma, including one borderline tumor in a diffuse, granular cytoplasmic and perinuclear staining pattern, independent of patient age, presence of ovarian and/or pelvic endometriosis, and FIGO stage. | NA | {
"id": 26271,
"name": "FBXO5",
"pos": [
30,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
117,
5
]
} |
Activating FGF receptor 3 (FGFR3) mutations are common in benign skin lesions, either as embryonic mutations in epidermal nevi (EN) or as somatic mutations in seborrheic keratoses (SK). | NA | {
"id": 2263,
"name": "FGFR2",
"pos": [
11,
12
]
} | {
"id": "C0334082",
"name": "NEVUS, EPIDERMAL (disorder)",
"pos": [
112,
14
]
} |
In contrast, a clinically used NRF2 activator dimethyl fumarate (DMF) protected against hypoglycemia and lethality induced by acute ethanol exposure. | biomarker | {
"id": 4780,
"name": "NFE2L2",
"pos": [
31,
4
]
} | {
"id": "C0020615",
"name": "Hypoglycemia",
"pos": [
88,
12
]
} |
Extra-adrenal paragangliomas (PGL) are rare neoplasms occurring in sporadic and familial forms, the latter mostly in association with germline mutations of SD- HB, SDHC or SDHD genes. | genomic_alterations | {
"id": 6392,
"name": "SDHD",
"pos": [
172,
4
]
} | {
"id": "C0030422",
"name": "Extra-Adrenal Paraganglioma",
"pos": [
0,
28
]
} |
TH2-mediated pendrin expression is increased in NPs of patients with CRS and might lead to increased inflammation, mucus production, and decreased mucociliary clearance. | NA | {
"id": 5172,
"name": "SLC26A4",
"pos": [
13,
7
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
101,
12
]
} |
In infected cells, poly(ADP-ribose) polymerase 1 (PARP-1), a DNA repair enzyme that also regulates HMGB1 translocation, was found to be cleaved into fragments that correspond to a necrosis like pattern of PARP-1 degradation. | NA | {
"id": 142,
"name": "PARP1",
"pos": [
19,
29
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
180,
8
]
} |
BACKGROUND: Heterozygous C104R or A181E TNF receptor superfamily member 13b (TNFRSF13B) mutations impair removal of autoreactive B cells, weaken B-cell activation, and convey to patients with common variable immune deficiency (CVID) an increased risk for autoimmunity. | NA | {
"id": 29760,
"name": "BLNK",
"pos": [
145,
17
]
} | {
"id": "C0009447",
"name": "Common Variable Immunodeficiency",
"pos": [
192,
33
]
} |
There was no association of the ACE I/D genotype with blood pressure values (either casual of 24-hour ambulatory monitored). | NA | {
"id": 1636,
"name": "ACE",
"pos": [
32,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
54,
14
]
} |
Systolic and diastolic blood pressure (SBP and DBP) were recorded with a mercury sphygmomanometer. | NA | {
"id": 1628,
"name": "DBP",
"pos": [
47,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
13,
24
]
} |
The most prevalent molecular defect was the deletion of 3 alpha-globin structural genes most commonly the (--/-alpha 3.7) genotype (83.6%) and rarely the (--/-alpha 4.2) genotype (1.4%), followed in decreasing order of incidence by the combination of deletion alpha zero-thalassemia and initiation codon mutation of the alpha 2-gene (--/alpha NcoI alpha = 9.8%), deletion alpha zero-thalassemia and pentanucleotide deletion of IVS-I of the alpha 2-globin gene, (--/alpha HphI alpha = 3.3%) deletion alpha zero-thalassemia and initiation codon mutation of the alpha 1-gene (--/alpha alpha NcoI = 1.3%), a homozygous state for initiation codon mutation of the alpha 2-gene (alpha Nco alpha/alpha NcoI alpha = 0.7%). | NA | {
"id": 3476,
"name": "IGBP1",
"pos": [
159,
7
]
} | {
"id": "C0039730",
"name": "Thalassemia",
"pos": [
510,
11
]
} |
In analyses of sex-specific albuminuria, IL1B (rs1143623) among Mexican Americans remained significantly associated with increased odds, while IL1B (rs1143623), CRP (rs1800947) and NOS3 (rs2070744) were significantly associated with ACR ≥ 30 mg/g in this population (additive models, FDR-P < 0.05). | NA | {
"id": 1401,
"name": "CRP",
"pos": [
161,
3
]
} | {
"id": "C0001925",
"name": "Albuminuria",
"pos": [
28,
11
]
} |
The biological hallmark of juvenile myelomonocytic leukemia (JMML) is selective GM-CSF hypersensitivity. | NA | {
"id": 1437,
"name": "CSF2",
"pos": [
80,
6
]
} | {
"id": "C0020517",
"name": "Hypersensitivity",
"pos": [
87,
16
]
} |
Here, we investigate the role of the brain type VII isoform of adenylyl cyclase (AC7) in the manifestation of depressive symptoms in genetically modified animals, using a combination of in vivo behavioral experiments, gene expression profiling, and bioinformatics. | NA | {
"id": 113,
"name": "ADCY7",
"pos": [
81,
3
]
} | {
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
110,
19
]
} |
Microarray and chromatin immunoprecipitation analysis implicated CEBPA for aggressiveness induced by KDM6B knockdown. | NA | {
"id": 23135,
"name": "KDM6B",
"pos": [
101,
5
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
75,
14
]
} |
CCN family, comprising six members (Cyr61, CTGF, Nov, WISP-1, WISP-2, WISP-3), is involved in the stimulation of cell proliferation, migration, adhesion, angiogenesis, and tumorigenesis. | NA | {
"id": 8839,
"name": "CCN5",
"pos": [
62,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
172,
13
]
} |
Modulation of reactive oxygen species by Rac1 or catalase prevents asbestos-induced pulmonary fibrosis. | therapeutic | {
"id": 847,
"name": "CAT",
"pos": [
49,
8
]
} | {
"id": "C4721507",
"name": "Alveolitis, Fibrosing",
"pos": [
84,
18
]
} |
Our immunohistochemical analyses showed that ≈ 70% of clinical colon cancer samples and ≈ 53% of pancreatic cancer samples have detectable β1i expression. | NA | {
"id": 5698,
"name": "PSMB9",
"pos": [
139,
3
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
97,
17
]
} |
The effect of MiR126 was examined in response to oxidative stress, aberrant mitochondrial function induced by inhibition of complex I, mitochondrial DNA (mtDNA) depletion, and hypoxia. | NA | {
"id": 406913,
"name": "MIR126",
"pos": [
14,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
176,
7
]
} |
A wide array of p53 mutations has been revealed to play pivotal roles during cancer progression, which abolish anti-tumor functions of wild type p53 but also elicit tumorigenic effects by activating a diverse subset of downstream molecules. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
16,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
77,
18
]
} |
There was a significant association between the dysbindin SNP rs3213207 and severity of both negative symptoms and total symptom load, as well as between the DAO SNP rs2070587 and total symptom score and severity of anxiety and depression. | NA | {
"id": 26,
"name": "AOC1",
"pos": [
158,
3
]
} | {
"id": "C0003467",
"name": "Anxiety",
"pos": [
216,
7
]
} |
Here, we show that enhanced passive Ca2+ transport in the proximal tubule rather than active Ca2+ transport in distal convolution explains thiazide-induced hypocalciuria. | NA | {
"id": 760,
"name": "CA2",
"pos": [
93,
3
]
} | {
"id": "C0020599",
"name": "Hypocalciuria",
"pos": [
156,
13
]
} |
Thus, mutations in TFIIH components may, on top of a repair defect, also cause transcriptional insufficiency, which may explain part of the non-XP clinical features of TTD. | genomic_alterations | {
"id": 2965,
"name": "GTF2H1",
"pos": [
19,
5
]
} | {
"id": "C1955934",
"name": "Trichothiodystrophy Syndromes",
"pos": [
168,
3
]
} |
This genotype was associated with MTX-induced accelerated rheumatoid nodulosis (MIARN). | NA | {
"id": 4580,
"name": "MTX1",
"pos": [
34,
3
]
} | {
"id": "C0035450",
"name": "Rheumatoid Nodule",
"pos": [
58,
20
]
} |
IR increases plaque vulnerability by augmenting the CX3CL1/CX3CR1 axis, which is mechanistically linked to reduced VSMC survival. | NA | {
"id": 6376,
"name": "CX3CL1",
"pos": [
52,
6
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
13,
6
]
} |
The gene MID1, the mutation of which causes X-linked Opitz G/BBB syndrome (OS, MIM 300000), encodes a microtubule-associated protein (MAP). | genomic_alterations | {
"id": 51115,
"name": "RMDN1",
"pos": [
102,
30
]
} | {
"id": "C1801950",
"name": "Opitz-G syndrome, type 2",
"pos": [
53,
20
]
} |
Consistent with p53 Ser15 being a target of ataxia telangiectasia mutated protein(ATM)/ATR (ATM- and rad3-related) in the DNA damage response, Bcl-2 activates ATM by inducing ATM Ser1981 phosphorylation, which is accompanied with the phosphorylaton of two additional ATM substrates, Chk2 Thr68 and H2AX Ser139. | NA | {
"id": 3014,
"name": "H2AX",
"pos": [
298,
4
]
} | {
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
51,
14
]
} |
Treatment of human erythroleukemia K562 and colorectal carcinoma HCT116 cells with MKT-077 sensitizes them to cell death mediated by MAC but not by streptolysin O. Pre-treatment of cells with MKT-077 also reduces the extent of MAC-mortalin vesiculation following a sublytic complement attack. | NA | {
"id": 4082,
"name": "MARCKS",
"pos": [
227,
3
]
} | {
"id": "C0023440",
"name": "Acute Erythroblastic Leukemia",
"pos": [
19,
15
]
} |
Haplotype-based analysis of TPH2 in patients with UP and BP disorder and controls from northern Swedish descent provides preliminary evidence for protective association in both disorders and thus supports a central role for TPH2 in the pathogenesis of affective disorders. | NA | {
"id": 6999,
"name": "TDO2",
"pos": [
224,
4
]
} | {
"id": "C0525045",
"name": "Mood Disorders",
"pos": [
252,
19
]
} |
PD-L1 on tumor cells is induced in ascites and promotes peritoneal dissemination of ovarian cancer through CTL dysfunction. | NA | {
"id": 29126,
"name": "CD274",
"pos": [
0,
5
]
} | {
"id": "C0003962",
"name": "Ascites",
"pos": [
35,
7
]
} |
Our results recognize CLL as the first extrauterine cancer type where 5'terminus of MED12 is mutated at significant frequency. | genomic_alterations | {
"id": 9968,
"name": "MED12",
"pos": [
84,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
52,
11
]
} |
The risk of total prostate cancer was slightly increased for a GGN repeat length of 23 compared to all others (odds ratio, 1.20; 95% confidence interval 0.97-1.49); risk did not vary by tumor stage/grade. | NA | {
"id": 199720,
"name": "GGN",
"pos": [
63,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
18,
15
]
} |
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