text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
The results showed that the expressions of ERα and GLUT4, the insulin-stimulated translocation of GLUT4 from the cytoplasm to the cell membrane and glucose uptake in mature adipocytes were dramatically increased (P < .01). | NA | {
"id": 6517,
"name": "SLC2A4",
"pos": [
98,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
81,
13
]
} |
MicroRNA-21 is a unique signature associated with coronary plaque instability in humans by regulating matrix metalloproteinase-9 via reversion-inducing cysteine-rich protein with Kazal motifs. | NA | {
"id": 8434,
"name": "RECK",
"pos": [
133,
58
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
59,
6
]
} |
A peptide based on the complementarity-determining region 1 of an autoantibody ameliorates lupus by up-regulating CD4+CD25+ cells and TGF-beta. | NA | {
"id": 920,
"name": "CD4",
"pos": [
114,
3
]
} | {
"id": "C0024131",
"name": "Lupus Vulgaris",
"pos": [
91,
5
]
} |
No mutation was found in the Tcf1 gene in either tumor type. | genomic_alterations | {
"id": 6932,
"name": "TCF7",
"pos": [
29,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
49,
5
]
} |
METHODS: RESULTS: AsPC-1 cells overexpressing CD133 (AsPC-1 CD133 cells) had elevated cell proliferation, tumorigenesis, cell cycle progression, adhesion, migration, and angiogenesis. | NA | {
"id": 8842,
"name": "PROM1",
"pos": [
61,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
146,
8
]
} |
Using a sigmoidoscopy-based case-control study (753 cases, 799 controls) in Los Angeles County, we investigated the potential modifier role in the effect of alcohol and smoking of single-nucleotide polymorphisms (SNP) in three DNA repair genes, XRCC1 (Arg194Trp and Arg399Gln), XRCC3 (Thr241Met), and XPD (Lys751Gln). | NA | {
"id": 7517,
"name": "XRCC3",
"pos": [
278,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
169,
7
]
} |
At various points before and after the infusion, blood samples were withdrawn and analyzed by means of whole-blood flow cytometry to evaluate expression of inflammation-associated adhesion molecules (CD11b, CD11a, CD49d, and CD62L) and CD14 on the leukocytes. | NA | {
"id": 3684,
"name": "ITGAM",
"pos": [
200,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
180,
8
]
} |
Therefore, the role of α-tubulin deacetylase and its potential as a therapeutic target for neurodegenerative diseases are areas of rapidly expanding investigation. | biomarker | {
"id": 10376,
"name": "TUBA1B",
"pos": [
23,
9
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
91,
26
]
} |
The analysis for a phenotype-genotype correlation showed that patients with 6q24 alterations had a lower birth weight and were diagnosed earlier than patients with KCNJ11 mutations. | NA | {
"id": 3767,
"name": "KCNJ11",
"pos": [
164,
6
]
} | {
"id": "C0005612",
"name": "Birth Weight",
"pos": [
105,
12
]
} |
The most promising results have been obtained with NAC, which through multiple thiol-responsive mechanisms completely reversed established cardiac hypertrophy and fibrosis in three independent studies. | NA | {
"id": 22861,
"name": "NLRP1",
"pos": [
51,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
163,
8
]
} |
Those with ALDH2(*)1/(*)1 and ADH1B(*)1/(*)1 were likely to be at an increased risk of depressive and anxiety disorders as well as ARD. | NA | {
"id": 55256,
"name": "ADI1",
"pos": [
131,
3
]
} | {
"id": "C0003469",
"name": "Anxiety Disorders",
"pos": [
102,
17
]
} |
These data suggest that CYP1A2 does not play a positive role in methemoglobin formation via the activation of ABP; rather, the absence of CYP1A2 enhances ABP-induced methemoglobinemia. | NA | {
"id": 26,
"name": "AOC1",
"pos": [
154,
3
]
} | {
"id": "C0025637",
"name": "Methemoglobinemia",
"pos": [
166,
17
]
} |
The 25 patients with the common c.745G>A mutation generally had a less rapidly progressive disease course than the 17 cases with other TUBB4A mutations. | NA | {
"id": 10382,
"name": "TUBB4A",
"pos": [
135,
6
]
} | {
"id": "C1838681",
"name": "Rapidly progressive",
"pos": [
71,
19
]
} |
We show that in ONS-76 medulloblastoma cells, resveratrol, an inducer of apoptosis and differentiation, increased the expression of Zhangfei, trkA and Early Growth Response Gene 1 (Egr1), a gene normally activated by NGF-trkA signalling. | NA | {
"id": 1958,
"name": "EGR1",
"pos": [
181,
4
]
} | {
"id": "C0025149",
"name": "Medulloblastoma",
"pos": [
23,
15
]
} |
Mice with mutations in kisspeptin and the kisspeptin receptor, Kiss1(-/-) and Kiss1r(-/-), respectively, appear to be phenocopies of the human with abnormal sexual maturation and infertility. | NA | {
"id": 3814,
"name": "KISS1",
"pos": [
42,
10
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
179,
11
]
} |
A total of 336 biopsies, scrapes and exfoliated cells from the cervix and from the lower genital tract were screened for human papilloma (HP) viral sequences of types 6, 11, 16 and 18 by Southern blot, dot blot and filter in situ (FISH) hybridizations with cloned 32P-radiolabeled HPV DNA probes. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
231,
4
]
} | {
"id": "C0030354",
"name": "Papilloma",
"pos": [
127,
9
]
} |
Moreover, none of the sporadic MSI-H or hereditary patients with KRAS G13 mutations had a fatal outcome. | NA | {
"id": 1388,
"name": "ATF6B",
"pos": [
70,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
22,
8
]
} |
Here we exploit gene transfer using an adeno-associated virus (AAV) for TIMP1 gene delivery in a rat model of intimal hyperplasia. | NA | {
"id": 17,
"name": "AAVS1",
"pos": [
63,
3
]
} | {
"id": "C0334096",
"name": "Intimal proliferation",
"pos": [
110,
19
]
} |
Definite proof of renin-angiotensin aldosterone system activation in FGR should rely on evaluation of additional patients with massive glucosuria. | NA | {
"id": 2268,
"name": "FGR",
"pos": [
69,
3
]
} | {
"id": "C0017979",
"name": "Glycosuria",
"pos": [
135,
10
]
} |
APOE epsilon4 allele frequency, CSF proteins (Abeta(1-42), total tau, hyperphosphorylated tau [p-tau(181p)]), glucose metabolism (FDG-PET), hippocampal volume, and episodic memory performance were evaluated at baseline in patients with amnestic MCI (n = 85), using data from a large multisite study (Alzheimer's Disease Neuroimaging Initiative). | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
0,
4
]
} | {
"id": "C1270972",
"name": "Mild cognitive disorder",
"pos": [
245,
3
]
} |
Herein, we show that the CD40 and CD40-L expressions on monocytes and T cells, respectively, decrease as the head and neck squamous cell carcinoma (HNSCC) patients progress from stage-I through stage-IV suggesting a novel CD40/CD40-L expression based staging of HNSCC tumor. | biomarker | {
"id": 959,
"name": "CD40LG",
"pos": [
34,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
268,
5
]
} |
These are the first in vivo expression patterns of RAR-beta2 and RAR-beta4 reported in humans or animals and support the in vitro data on these isoforms and their contrasting biological effects in human carcinogenesis. | NA | {
"id": 128408,
"name": "BHLHE23",
"pos": [
69,
5
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
203,
14
]
} |
Multivariate analysis showed that increased cumulated sorafenib (AUC(cum)) was independently associated with any grade ≥ 3 toxicity (p = 0.037); UGT1A9 polymorphism (rs17868320) with grade ≥ 2 diarrhea (p = 0.015) and female gender with grade ≥ 2 hand-foot skin reaction (p = 0.018). | genomic_alterations | {
"id": 54600,
"name": "UGT1A9",
"pos": [
145,
6
]
} | {
"id": "C0011991",
"name": "Diarrhea",
"pos": [
193,
8
]
} |
To investigate whether the development and progression of laryngeal squamous cell carcinoma is associated with coinfection with TTV and HPV. | NA | {
"id": 2131,
"name": "EXT1",
"pos": [
128,
3
]
} | {
"id": "C0280324",
"name": "Laryngeal Squamous Cell Carcinoma",
"pos": [
58,
33
]
} |
Patients with AH had a tendency of a lower frequency of the CC genotype of the +1239C single-nucleotide polymorphism of the OPN gene, compared to patients with alcohol abuse without liver disease. | NA | {
"id": 6696,
"name": "SPP1",
"pos": [
124,
3
]
} | {
"id": "C0085762",
"name": "Alcohol abuse",
"pos": [
160,
13
]
} |
To identify a functional polymorphic site(s) within HSPA1A and/or HSPA1B which is in linkage disequilibrium with the silent mutation HSPA1B1267A>G and explains its association with septic shock. | NA | {
"id": 3303,
"name": "HSPA1A",
"pos": [
52,
6
]
} | {
"id": "C0036983",
"name": "Septic Shock",
"pos": [
181,
12
]
} |
Previously, we and others have shown that bone extracellular matrix proteins such as bone sialoprotein (BSP) and osteopontin (OPN) are expressed in various types of cancer that are characterized by a high affinity for bone including breast, prostate, and lung adenocarcinoma. | NA | {
"id": 3381,
"name": "IBSP",
"pos": [
104,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
165,
6
]
} |
This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans. | biomarker | {
"id": 121227,
"name": "LRIG3",
"pos": [
109,
5
]
} | {
"id": "C0598589",
"name": "Inherited neuropathies",
"pos": [
148,
20
]
} |
Combined p14ARF and antisense EGFR potentiate the efficacy of adenovirus-mediated gene therapy in laryngeal squamous cell carcinoma (LSCC). | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
9,
6
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
62,
10
]
} |
The study of allelic loss at the GPX1 locus in colon cancer was investigated by examining loss of heterozygosity (LOH) in DNA extracted from both tumor and adjacent histopathologically normal tissue obtained by laser capture microdissection. | genomic_alterations | {
"id": 2876,
"name": "GPX1",
"pos": [
33,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
146,
5
]
} |
We also performed two-color MYC fluorescence in situ hybridization (FISH) in tissue from the 57 patients with gastric cancer. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
68,
4
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
110,
14
]
} |
In the Chinese, 2 beta-globin defects at CD 41/42 and IVS2-654 were responsible for 74% of beta-thalassemia. beta-mutations at CD 19, IVS1-1 (G-T), IVS1-5, poly A, and hemoglobin E caused 76% of the hemoglobin disorders in the Malays. | genomic_alterations | {
"id": 3674,
"name": "ITGA2B",
"pos": [
41,
5
]
} | {
"id": "C3841475",
"name": "beta^+^ Thalassemia",
"pos": [
91,
16
]
} |
These include lamin A/C in autosomal dominant Emery-Dreifuss muscular dystrophy, SMN in spinal muscular atrophy, SIX5 in myotonic dystrophy, calpain3 in type 2A limb-girdle muscular dystrophy, PABP2 in oculopharyngeal dystrophy, androgen receptor in spinal and bulbar muscular atrophy and the ataxins in hereditary ataxias. | NA | {
"id": 147912,
"name": "SIX5",
"pos": [
113,
4
]
} | {
"id": "C0270952",
"name": "Muscular Dystrophy, Oculopharyngeal",
"pos": [
202,
25
]
} |
Furthermore, PAPep suppressed the LPS-induced mRNA expression of TNF-α and IL-6 in RAW 264.7 cells, inhibited protein expression of ICAM-1 in TNF-α-stimulated human umbilical vein endothelial cells (HUVECs) as well as U937 cells adhesion to HUVECs. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
75,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
229,
8
]
} |
Based on the sequence, three reported translocations that cause BPES all fall within intron 6 of MRPS22. | NA | {
"id": 56945,
"name": "MRPS22",
"pos": [
97,
6
]
} | {
"id": "C0085639",
"name": "Falls",
"pos": [
73,
4
]
} |
BAG3 protein is overexpressed in human glioblastoma and is a potential target for therapy. | therapeutic | {
"id": 9531,
"name": "BAG3",
"pos": [
0,
4
]
} | {
"id": "C1514422",
"name": "Glioblastoma, IDH-Wildtype",
"pos": [
39,
12
]
} |
More than a decade after the discovery of a novel type 1 diabetes risk locus on chromosome 16p13, there remains complexity and controversy over the specific gene(s) that regulate diabetes pathogenesis.A new study by Nieves-Bonilla et al. shows that one of these genes, DEXI, is unlikely to contribute to type 1 diabetes pathogenesis and positions the endolysosomal E3 ubiquitin ligase CLEC16A as the primary culprit by which this gene locus influences diabetes risk. | genomic_alterations | {
"id": 158506,
"name": "CBLL2",
"pos": [
365,
19
]
} | {
"id": "C0011847",
"name": "Diabetes",
"pos": [
452,
8
]
} |
The M235T polymorphism of the angiotensinogen (ANG) gene, the I/D polymorphism of the angiotensin converting enzyme (ACE) gene, and the A1166C polymorphism of the angiotensin II type 1 receptor (AT1R) gene were identified in 70 patients with end-stage renal disease [20 pediatric ESRD, aged 14.9+/-3.1, years blood pressure (BP) 139+/-14/91+/-13 mmHg, 50 adult ESRD, aged 48.7+/-18.7 years, BP 149.1+/-24/96.9+/-12 mmHg], 35 with juvenile essential hypertension (JEHT, aged 14.4+/-2.7 years, 24-h mean BP 135.37+/-7.37/72.4+/-7.68 mmHg), 130 adult healthy normotensive controls (aged 34.9+/-8.1 years, BP 117.8+/-8.7/78.7+/-8.5 mmHg), and 20 pediatric controls (aged 13.2+/-1.2 years, BP 109+/-6.5/71+/-5.9 mmHg). | NA | {
"id": 1636,
"name": "ACE",
"pos": [
117,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
309,
14
]
} |
Human beta-defensin-2 in oral cancer with opportunistic Candida infection. | biomarker | {
"id": 1673,
"name": "DEFB4A",
"pos": [
6,
15
]
} | {
"id": "C0006840",
"name": "Candidiasis",
"pos": [
56,
17
]
} |
Alterations in fibrinogen and VIIc in RTR arise in part as a result of interactions between common genetic and environmental factors, and these changes could contribute to the increased risk of CVD in RTR. | NA | {
"id": 2649,
"name": "NR6A1",
"pos": [
201,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
15,
10
]
} |
In the chronic hypoxic mouse model, Y₁ receptor were up-regulated, while expression of both NPY and Y₁ receptor was increased in the lungs of monocrotaline and SU5416-hypoxia rats. | NA | {
"id": 4852,
"name": "NPY",
"pos": [
92,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
167,
7
]
} |
Here, we show that Tip60 HAT activity mediates axonal growth of the Drosophila pacemaker cells, termed "small ventrolateral neurons" (sLNvs), and their production of the neuropeptide pigment-dispersing factor (PDF) that functions to stabilize Drosophila sleep-wake cycles. | NA | {
"id": 9407,
"name": "TMPRSS11D",
"pos": [
25,
3
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
183,
7
]
} |
When considering class 1 (loss-of-function) BRCA mutations, hazard ratios estimated by weighted multivariable Cox regression model, for individuals with at least one copy of the del allele, were 1.46 (95% confidence interval (CI): 1.08-1.99) for BRCA1 and BRCA2 mutation carriers combined, 1.74 (95% CI: 1.24-2.46) for BRCA1 mutation carriers, and 1.09 (95% CI: 0.66-1.80) for BRCA2 mutation carriers. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
246,
5
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
114,
10
]
} |
Ablation of SRC-3 or PFKFB4 suppresses breast tumour growth in mice and prevents metastasis to the lung from an orthotopic setting, as does Ser857Ala-mutant SRC-3. | genomic_alterations | {
"id": 5210,
"name": "PFKFB4",
"pos": [
21,
6
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
39,
13
]
} |
Recently, microdeletions of the FOX gene cluster at 16q24.1, comprising four genes, FOXF1, MTHFSD, FOXC2 and FOXL1, were reported to cause a phenotype resembling VACTERL association, with vertebral anomalies, gastro-intestinal atresias (esophageal, duodenal and anal), congenital heart malformations, and urinary tract malformations, as well as a rare lethal developmental anomaly of the lung, alveolar capillary dysplasia. | NA | {
"id": 64779,
"name": "MTHFSD",
"pos": [
91,
6
]
} | {
"id": "C2677362",
"name": "Alveolar capillary dysplasia",
"pos": [
394,
28
]
} |
Peripheral glucose disposal (assessed with the euglycaemic-hyperinsulinaemic clamp technique), Na+-Li+ countertransport in erythrocytes and the cytosolic free Ca2+ concentration in platelets were determined in 36 men from families with essential hypertension in at least two close relatives and in 28 age- and weight-matched men from families without hypertension. | NA | {
"id": 760,
"name": "CA2",
"pos": [
159,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
310,
6
]
} |
It might be suggested that chronic smoking carries such a high dose of toxins into the body that overloads the capacity of either GSTM1 or GSTT1 detoxification system. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
130,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
35,
7
]
} |
Whereas specific inhibition of mimitin expression did not affect cell proliferation in human cervical carcinoma, colon adenocarcinoma, and hepatocarcinoma cell lines, it did suppress cell proliferation in human glioblastoma, esophageal squamous cell carcinoma (ESCC), and embryonic lung fibroblastic cells, with the greatest suppression efficiency in ESCC cells. | NA | {
"id": 91942,
"name": "NDUFAF2",
"pos": [
31,
7
]
} | {
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
93,
18
]
} |
In this report, we describe a newborn who presented with purpura fulminans and DIC, molecular analysis showed a novel c.1048A>T transversion in a homozygous state at codon 350 (Lys>Stop) of protein C (PROC) gene. | genomic_alterations | {
"id": 5624,
"name": "PROC",
"pos": [
207,
4
]
} | {
"id": "C0012739",
"name": "Disseminated Intravascular Coagulation",
"pos": [
79,
3
]
} |
Our results provide in vivo evidence that Nampt transgene aggravates atherosclerotic inflammation and promotes atherosclerosis development in ApoE<sup>-/-</sup> mice. | biomarker | {
"id": 10135,
"name": "NAMPT",
"pos": [
42,
5
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
111,
15
]
} |
Clinical parameters and paraclinical data on the p53, mdm2, and EGFR genes at the DNA or protein level were evaluated by univariate analysis and Cox proportional hazards regression modeling. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
49,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
170,
10
]
} |
Formed from a reciprocal translocation t(9:22)(q34;q11) of genetic material between the long arms of human chromosomes 9 and 22, the constitutively active breakpoint cluster region (BCR) Abelson 1 (ABL) tyrosine kinase BCR-ABL is known to be causative of chronic myelogenous leukemia (CML). | NA | {
"id": 613,
"name": "BCR",
"pos": [
182,
3
]
} | {
"id": "C0206655",
"name": "Alveolar rhabdomyosarcoma",
"pos": [
93,
4
]
} |
To assay its extent in human lymphoma, methylation of 24 TSG was analyzed in lymphoma-derived cell lines as well as in patient samples. | NA | {
"id": 57045,
"name": "TWSG1",
"pos": [
57,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
77,
8
]
} |
The TERT promoter mutation was detected in 18% of PTC patients (13/74). | genomic_alterations | {
"id": 110806263,
"name": "LOC110806263",
"pos": [
4,
13
]
} | {
"id": "C0238463",
"name": "Papillary thyroid carcinoma",
"pos": [
50,
3
]
} |
Conditioned medium from human tumor cell lines, ascites fluid from tumor xenografts, and plasma samples from normal mice, as well as colorectal cancer patients, were assessed for ligand elevations using ELISA, following treatment with cetuximab (Erbitux), an anti-mouse EGFR neutralizing antibody, or a small-molecule EGFR tyrosine kinase inhibitor. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
270,
4
]
} | {
"id": "C0003962",
"name": "Ascites",
"pos": [
48,
7
]
} |
The prevalence of thyroid autoantibodies, i.e. thyroglobulin antibodies and antibodies to thyroid peroxidase, was analyzed in 89 girls, aged 3-16 years (mean age 10 years), with Turner's syndrome. | biomarker | {
"id": 7038,
"name": "TG",
"pos": [
47,
13
]
} | {
"id": "C0041408",
"name": "Turner Syndrome",
"pos": [
178,
17
]
} |
In conclusion, sarcomas respond to increased hypoxia by expressing HIF-1α target genes that may promote resistance to antiangiogenic and other therapies. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
67,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
45,
7
]
} |
A Diabetes Outcome Progression Trial (ADOPT) is a randomized, double-blind clinical trial in recently diagnosed drug-naive patients with type 2 diabetes that allows for the evaluation of GAD positivity in the context of anthropometric and biochemical characteristics. | NA | {
"id": 2571,
"name": "GAD1",
"pos": [
187,
3
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
69,
5
]
} |
The comethylation of p16 and MGMT genes was significantly associated with lower aggressiveness of the disease even when K-ras mutations were included in the analysis as an independent variable. | NA | {
"id": 4255,
"name": "MGMT",
"pos": [
29,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
80,
14
]
} |
On the first day of hospitalization, all enrolled patients were examined for cognitive impairment (assessed by MMSE) and delirium (assessed by CAM). | genomic_alterations | {
"id": 801,
"name": "CALM1",
"pos": [
143,
3
]
} | {
"id": "C0011206",
"name": "Delirium",
"pos": [
121,
8
]
} |
In any case of suspected symptomatic consequences of circulating AB directed against brain antigens, leakiness of the BBB should be evaluated by CSF analysis (albumin quotient as proxy) and magnetic resonance imaging before considering immunosuppression. | biomarker | {
"id": 213,
"name": "ALB",
"pos": [
159,
7
]
} | {
"id": "C4048329",
"name": "Immunosuppression",
"pos": [
236,
17
]
} |
This study investigated the relation of COX-2 polymorphisms (-1195G>A, -765G>C and 8160A>G) to colorectal adenomas in a case-control study of male officials in the Self Defense Forces (SDF). | genomic_alterations | {
"id": 5743,
"name": "PTGS2",
"pos": [
40,
5
]
} | {
"id": "C1302401",
"name": "Adenoma of large intestine",
"pos": [
104,
19
]
} |
CCM3 depletion caused cortactin Ser-phosphorylation, dissociation from ZO-1 and actin, redistribution to the cytosol and degradation. | NA | {
"id": 7082,
"name": "TJP1",
"pos": [
71,
4
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
53,
12
]
} |
We also found germline BAP1 mutations in 2 of 26 sporadic mesotheliomas; both individuals with mutant BAP1 were previously diagnosed with uveal melanoma. | NA | {
"id": 8314,
"name": "BAP1",
"pos": [
102,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
49,
8
]
} |
Individuals with homozygous mutations in MSH6 can develop an NF1-like phenotype, including multiple CALMs. | genomic_alterations | {
"id": 2956,
"name": "MSH6",
"pos": [
41,
4
]
} | {
"id": "C0027831",
"name": "Neurofibromatosis 1",
"pos": [
61,
3
]
} |
Hereditary Haemochromatosis is an iron overload disorder associated with mutations in the HFE gene, and to a lesser degree, the gene encoding its chaperone protein beta-2 microglobulin (beta2M). | genomic_alterations | {
"id": 567,
"name": "B2M",
"pos": [
186,
6
]
} | {
"id": "C0392514",
"name": "Hereditary hemochromatosis",
"pos": [
0,
27
]
} |
Naturally occurring NS3-protease-inhibitor resistant mutant A156T in the liver of an untreated chronic hepatitis C patient. | genomic_alterations | {
"id": 388007,
"name": "SERPINA13P",
"pos": [
24,
18
]
} | {
"id": "C0524910",
"name": "Hepatitis C, Chronic",
"pos": [
95,
19
]
} |
CIMP+ in HCC was significantly associated with distant metastasis (OR = 4.28, 95% CI = 2.57-7.10, P < 0.00001, heterogeneity = 0.888), TNM tumor stage IIII + IV (OR = 5.73, 95% CI = 3.70-8.88, P < 0.0001, heterogeneity = 0.449), cirrhosis (OR = 2.54, 95% CI = 1.33,4.83, P = 0.005, heterogeneity = 0.121) and a higher level of AFP (>300 ng/ml) than those with CIMP- (OR = 2.63, 95% CI = 1.79,3.89, P < 0.00001, heterogeneity = 0.432). | genomic_alterations | {
"id": 174,
"name": "AFP",
"pos": [
333,
3
]
} | {
"id": "C1623038",
"name": "Cirrhosis",
"pos": [
235,
9
]
} |
Treatment of orthotopic thyroid tumors, initiated 1 week after tumor cell implantation with PLX4720, an orally available selective inhibitor of B-Raf(V600E), caused a significant tumor growth delay and decreased distant metastases, without evidence of toxicity. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
144,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
179,
5
]
} |
Two predisposing genes have been found in families affected by TSC; approximately half of the families show linkage to TSC1 at 9q34.3, and the other half show linkage to TSC2 at 16p13.3. | genomic_alterations | {
"id": 7248,
"name": "TSC1",
"pos": [
119,
4
]
} | {
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
63,
3
]
} |
Nuclear receptor-binding SET domain protein 1 (NSD1) prototype is a family of mammalian histone methyltransferases (NSD1, NSD2/MMSET/WHSC1, NSD3/WHSC1L1) that are essential in development and are mutated in human acute myeloid leukemia (AML), overgrowth syndromes, multiple myeloma and lung cancers. | NA | {
"id": 7468,
"name": "NSD2",
"pos": [
133,
5
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
213,
22
]
} |
Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg(247) (CGC) in the catalytic domain. | NA | {
"id": 2155,
"name": "F7",
"pos": [
0,
10
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
27,
12
]
} |
We describe five affected individuals with similar dysmorphic facies, and three of them had either complete situs inversus, dextrocardia, or transposition of the great arteries; similar cardiac abnormalities were previously identified in a mouse mutant for the orthologous Megf8. | NA | {
"id": 1954,
"name": "MEGF8",
"pos": [
273,
5
]
} | {
"id": "C0040761",
"name": "Transposition of Great Vessels",
"pos": [
141,
35
]
} |
The neuroendocrine impact of ART on the offspring includes slight elevations of systolic blood pressure (SBP) and diastolic blood pressure (DBP), as well as increased circulating triglyceride concentrations, in children born after ART, especially in those with rapid catch-up growth in weight during early childhood. | NA | {
"id": 181,
"name": "AGRP",
"pos": [
231,
3
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
80,
23
]
} |
Thus, blocking the synthesis of AngII may be an effective treatment of osteoporosis and hypertension, especially for those afflicted with both conditions. | therapeutic | {
"id": 183,
"name": "AGT",
"pos": [
32,
5
]
} | {
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
88,
12
]
} |
Recessive GJC2/Cx47 mutations cause Pelizaeus-Merzbacher-like disease, a hypomyelinating leukodystrophy, while GJB1/Cx32 mutations cause neuropathy and chronic or acute-transient encephalopathy syndromes. | NA | {
"id": 57165,
"name": "GJC2",
"pos": [
15,
4
]
} | {
"id": "C0085584",
"name": "Encephalopathies",
"pos": [
179,
14
]
} |
The current study was designed with the aim to clarify whether ACE inhibition may induce regression of established proteinuria and renal structural damage in MWF rats, a genetic model of progressive proteinuria and renal injury. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
63,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
89,
10
]
} |
FATP-1 mRNA expression was decreased in skeletal muscle in obese women both in nondiabetic and in type 2 diabetic patients (P < 0.02 vs. lean women in both groups), and in all women there was a negative correlation with basal FATP-1 mRNA level and body mass index (r = -0.74, P < 0.02). | NA | {
"id": 376497,
"name": "SLC27A1",
"pos": [
226,
4
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
248,
15
]
} |
Therefore, we assessed whether naringin treatment ameliorates insulin resistance (IR), β-cell dysfunction, hepatic steatosis and kidney damage in high-fat diet (HFD)-streptozotocin (STZ)-induced type 2 diabetic rats. | NA | {
"id": 6484,
"name": "ST3GAL4",
"pos": [
182,
3
]
} | {
"id": "C1408258",
"name": "Kidney damage",
"pos": [
129,
13
]
} |
Cirrhotic patients showed significantly lower levels of viremia than those with chronic hepatitis with a similar HAI. | genomic_alterations | {
"id": 6692,
"name": "SPINT1",
"pos": [
113,
3
]
} | {
"id": "C0019189",
"name": "Hepatitis, Chronic",
"pos": [
80,
17
]
} |
We compared the immunohistochemical expression of calponin, h-caldesmon, ALK, and p53 gene mutation and MDM2 gene amplification with clinicopathological findings in 15 cases of inflammatory myofibroblastic tumour. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
82,
3
]
} | {
"id": "C0334121",
"name": "Inflammatory Myofibroblastic Tumor",
"pos": [
177,
35
]
} |
Systemic Phf2 null mice had partial neonatal death and growth retardation and exhibited less adipose tissue and reduced adipocyte numbers compared with control littermates. | NA | {
"id": 5253,
"name": "PHF2",
"pos": [
9,
4
]
} | {
"id": "C0410916",
"name": "Neonatal Death",
"pos": [
36,
14
]
} |
This paper characterizes the functional defect, and the roles of two mutated PCFT residues, associated with HFM (G338R and A335D). | genomic_alterations | {
"id": 113235,
"name": "SLC46A1",
"pos": [
77,
4
]
} | {
"id": "C3495417",
"name": "Hemifacial microsomia",
"pos": [
108,
3
]
} |
EBV type and LMP1 variant had no significant influence on the clinicopathologic properties of tumor. | genomic_alterations | {
"id": 9260,
"name": "PDLIM7",
"pos": [
13,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
94,
5
]
} |
This study analysed mRNA expression of two members of the methyl-CpG-binding protein family - MeCP2 and MBD2 - in human non-neoplastic (n=11) and neoplastic (n=57) breast tissue specimens using a quantitative real-time PCR method. | NA | {
"id": 4204,
"name": "MECP2",
"pos": [
94,
5
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
120,
14
]
} |
Primary renal SEF represents yet another translocation-associated sarcoma now shown to arise primarily in the kidney. | NA | {
"id": 54756,
"name": "IL17RD",
"pos": [
14,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
41,
13
]
} |
ASCO/CAP 2018 breast cancer HER2 testing guidelines: summary of pertinent recommendations for practice in Australia. | biomarker | {
"id": 4012,
"name": "LNPEP",
"pos": [
5,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
14,
13
]
} |
We investigated the mutational status of the N-ras gene and the FLR exon of codons 1371-1423 of the open reading frame of the full-length NF1 cDNA, which has a strong homology with the mammalian ras GTPase-activating protein (GAP), especially for a stretch of three consecutive amino acids (F, L, R), by single-strand conformation polymorphism analysis and direct sequencing in samples from patients with AML. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
45,
5
]
} | {
"id": "C0027831",
"name": "Neurofibromatosis 1",
"pos": [
138,
3
]
} |
We identified an acquired CBL mutation and 11q-acquired uniparental disomy (11q-aUPD) in a patient with chronic myelomonocytic leukemia (CMML) secondary to FPD with RUNX1 mutation but not in the same patient during refractory cytopenia. | NA | {
"id": 861,
"name": "RUNX1",
"pos": [
165,
5
]
} | {
"id": "C0949628",
"name": "Uniparental Disomy",
"pos": [
56,
18
]
} |
smoking and polymorphisms in the genes involved in the metabolism of genotoxic carcinogens (EPHX1, GSTA1, GSTM1, GSTP1, GSTT1, NAT1, NAT2 and NQO1) or DNA repair (APE1, NBS1, XPC, XPD, XRCC1, XRCC3 and XRCC4), could modify the association between telomere length and cancer risk. | NA | {
"id": 7518,
"name": "XRCC4",
"pos": [
202,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
0,
7
]
} |
Our aim was to investigate whether the DYT1 mutation impairs the inner simulation of movements, a fundamental function for motor planning and execution, which relies upon cortical and subcortical systems, dysfunctional in dystonia. | genomic_alterations | {
"id": 1861,
"name": "TOR1A",
"pos": [
39,
4
]
} | {
"id": "C0013421",
"name": "Dystonia",
"pos": [
222,
8
]
} |
Together these data support a role for NTM and OPCML in developmental delay and potentially in cancer susceptibility. | biomarker | {
"id": 4978,
"name": "OPCML",
"pos": [
47,
5
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
95,
6
]
} |
The role of nonhomologous end joining (NHEJ) genes (Ku70, Ku80 and DNA-PKcs) in double-strand break (DSB) repair, genomic instability and apoptosis suggest a possible impact on tumor response to radiotherapy, 5-fluorouracil or cisplatin, as these agents are direct or indirect inductors of DSBs. | NA | {
"id": 2547,
"name": "XRCC6",
"pos": [
52,
4
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
114,
19
]
} |
In addition, we found the CTLA-4 rs16840252 C>T polymorphism was associated with the risk of colon cancer. | genomic_alterations | {
"id": 1493,
"name": "CTLA4",
"pos": [
26,
6
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
96,
12
]
} |
However, infertile patients and controls had similar lengths and distributions of both AR CAG (mean +/- SD number of repeats 21.1 +/- 2.5 vs. 21.2 +/- 2.3, respectively) and GGN (mean +/- SD number of repeats 22.5 +/- 1.5 vs. 22.4 +/- 1.9, respectively) repeats. | NA | {
"id": 199720,
"name": "GGN",
"pos": [
174,
3
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
9,
9
]
} |
In addition, MAbs to the cytoplasmic protein desmin, myoglobin, muscle actin (alpha and gamma) and alpha-sarcomeric actin reacted with these cell lines, SCMC-RM2 and SCMC-RM2-1 being thus identified as rhabdomyosarcoma. | biomarker | {
"id": 4151,
"name": "MB",
"pos": [
53,
9
]
} | {
"id": "C0279550",
"name": "Adult Rhabdomyosarcoma",
"pos": [
202,
16
]
} |
In summary, epigenetic inactivation of RASSF4/AD037 and NORE1A is rare in NPC, suggesting that these two RASSF family members may not be critical targets for gene inactivation during the tumorigenesis of NPC. | NA | {
"id": 83937,
"name": "RASSF4",
"pos": [
46,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
187,
13
]
} |
These findings suggest that the ADH2*1/2*1 genotype is a risk factor for the development of WKS in alcoholic patients. | genomic_alterations | {
"id": 125,
"name": "ADH1B",
"pos": [
32,
4
]
} | {
"id": "C0349464",
"name": "Wernicke-Korsakoff Syndrome",
"pos": [
92,
3
]
} |
However, fluorescence in situ hybridization (FISH) with the ETV6-specific cosmid clones 179A6, 50F4, 163E7, and 148B6 as well as probes hybridizing to the TP53 gene on 17p13 and the subtelomeric region of 17p revealed the presence of a translocation between 12p and 17p. | NA | {
"id": 2120,
"name": "ETV6",
"pos": [
60,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
236,
13
]
} |
This study showed that TPH2 expression levels were increased in the VPFC of suicide victims. | NA | {
"id": 6999,
"name": "TDO2",
"pos": [
23,
4
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
76,
7
]
} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.