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|---|---|---|---|
Clinical relevance of androgen receptor alterations in prostate cancer. | genomic_alterations | {
"id": 367,
"name": "AR",
"pos": [
22,
17
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
55,
15
]
} |
Identification of homozygous deletions of tumor suppressor gene FAT in oral cancer using CGH-array. | genomic_alterations | {
"id": 948,
"name": "CD36",
"pos": [
64,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
42,
5
]
} |
No association was found for other biomarkers measured (HDAC3, HDAC6, H3K9, H3K18 and p21) in all tissues examined (benign, DCIS and IDC). | biomarker | {
"id": 10013,
"name": "HDAC6",
"pos": [
63,
5
]
} | {
"id": "C0007124",
"name": "Noninfiltrating Intraductal Carcinoma",
"pos": [
124,
4
]
} |
Mutations in FGFR3 result in skeletal dysplasias of variable severity, including mild phenotypic effects in hypochondroplasia (HCH), severe phenotypic effects in thanatophoric dysplasia types I (TDI) and II (TDII), and severe but survivable phenotypic effects in severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). | NA | {
"id": 100038246,
"name": "TLX1NB",
"pos": [
195,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
81,
4
]
} |
Mutations in the gene for the major protein component of peripheral nerve myelin, myelin protein zero (MPZ, P0), cause hereditary disorders of Schwann cell myelin such as Charcot-Marie-Tooth neuropathy type 1B (CMT1B), Dejerine-Sottas syndrome (DSS), and congenital hypomyelinating neuropathy (CHN). | NA | {
"id": 1123,
"name": "CHN1",
"pos": [
294,
3
]
} | {
"id": "C0442874",
"name": "Neuropathy",
"pos": [
191,
10
]
} |
The results of this study showed that (a) three months after ileocolonic resection for Crohn's disease the neoterminal ileal mucosa showed endoscopically new inflammation and had higher PLA2 activity than at the time of the operation (n = 8); no such findings were seen in controls (n = 7), (b) histologically normal ileal mucosa (n = 3) contained mRNA for three isoforms of PLA2 (PLA2-I, PLA2-II, and cPLA2), but the amounts of PLA2-II mRNA clearly exceeded the amounts of mRNA for PLA2-I and cPLA2, (c) ileal mucosa from Crohn's patients (n = 2) contained higher values of PLA2-II mRNA than ileal mucosa from two controls, (d) ileal mucosa from Crohn's patients (n = 4) showed increased PLA2-II mRNA three months after ileocolonic resection. | NA | {
"id": 5319,
"name": "PLA2G1B",
"pos": [
483,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
158,
12
]
} |
Influence of ALDH2 Glu504Lys polymorphism on nitroglycerin response in chronic heart failure and involvement of Calcitonin Gene Related Peptide (CGRP). | NA | {
"id": 796,
"name": "CALCA",
"pos": [
145,
4
]
} | {
"id": "C0264716",
"name": "Chronic heart failure",
"pos": [
71,
21
]
} |
Succinylcholine-induced masseter muscle rigidity (MMR) is a potentially life-threatening complication of anesthesia and is closely correlated with the heterogeneous disorder malignant hyperthermia (MH) susceptibility. | NA | {
"id": 4360,
"name": "MRC1",
"pos": [
50,
3
]
} | {
"id": "C0026837",
"name": "Muscle Rigidity",
"pos": [
33,
15
]
} |
To explore TERT promoter mutations in tumors originating from the adrenal gland and extra-adrenal paraganglia, a set of 253 tumors (38 adrenocortical carcinomas (ACCs), 127 pheochromocytomas (PCCs), 18 extra-adrenal paragangliomas (ea PGLs), 37 head and neck PGLs (HN PGLs), and 33 peripheral neuroblastic tumors) was selected along with 16 human neuroblastoma (NBL) and two ACC cell lines to assess TERT promoter mutations by the Sanger sequencing method. | NA | {
"id": 25796,
"name": "PGLS",
"pos": [
268,
4
]
} | {
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
347,
13
]
} |
He had a normal karyotype by G-banded chromosome analysis, and a deletion of the ETV6 (alias TEL) gene was determined by fluorescence in situ hybridization analysis using DNA probes specific for t(12;21), which leads to ETV6/RUNX1 (alias TEL/AML1) gene fusion, but no translocation was found between the two genes. | NA | {
"id": 2120,
"name": "ETV6",
"pos": [
238,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
268,
13
]
} |
Therefore, CXCL2-CXCR2 axis mediates through Gαi-2 and Gαq/11 to promote tumorigenesis and contributes to CSC properties of CPT-11-R LoVo cells. | biomarker | {
"id": 2920,
"name": "CXCL2",
"pos": [
11,
5
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
73,
13
]
} |
Airway hyperresponsiveness (AHR) in young asymptomatic adults with atopy can be one of indicators of future symptomatic asthma. | NA | {
"id": 196,
"name": "AHR",
"pos": [
28,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
67,
5
]
} |
Cytotoxic T-lymphocyte antigen 4 gene and recovery from hepatitis B virus infection. | genomic_alterations | {
"id": 3111,
"name": "HLA-DOA",
"pos": [
12,
18
]
} | {
"id": "C0019163",
"name": "Hepatitis B",
"pos": [
56,
27
]
} |
Seven of 8 Wilms' tumors were diploid, and 1 showed aneuploid, with an SPF of 11.13%. | NA | {
"id": 23541,
"name": "SEC14L2",
"pos": [
71,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
52,
9
]
} |
To investigate the association of the -174 G/C IL-6 polymorphism with breast cancer and uterine leiomyoma in Ukrainian population. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
48,
4
]
} | {
"id": "C0042133",
"name": "Uterine Fibroids",
"pos": [
89,
17
]
} |
Phenotypes caused by de novo SCN1A pathogenic variants are very variable, ranging from severely affected patients with Dravet syndrome to much milder genetic epilepsy febrile seizures plus cases. | genomic_alterations | {
"id": 6323,
"name": "SCN1A",
"pos": [
29,
5
]
} | {
"id": "C0009952",
"name": "Febrile Convulsions",
"pos": [
167,
16
]
} |
Ad5-CAV2-luc, Ad5-RGD-luc, Ad5-SLPI-luc and Ad5-MSLN-CRAD-luc are promising delivery vehicles in the context of leiomyoma gene therapy. | NA | {
"id": 10232,
"name": "MSLN",
"pos": [
48,
4
]
} | {
"id": "C0023267",
"name": "Fibroid Tumor",
"pos": [
112,
9
]
} |
The direct interaction of HIF-1α with the CTF1 promoter was confirmed through site-directed mutagenesis of hypoxia response elements, electrophoreric mobility shift, and ChIP assays. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
26,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
107,
7
]
} |
As the mechanisms of LIMK-associated tumorigenesis are still unclear, we analyzed the tumorigenic functions of LIM kinase 2 (LIMK2) in human bladder cancer (BC) and explored whether the newly identified LIMK2 3´-UTR SNP rs2073859 (G-to-A allele) is correlated with clinical features. | genomic_alterations | {
"id": 3984,
"name": "LIMK1",
"pos": [
21,
4
]
} | {
"id": "C0005684",
"name": "Malignant neoplasm of urinary bladder",
"pos": [
141,
14
]
} |
The expression of miR's pre- and post-LVAD in heart failure patients was low compared to the level of miR's in control myocardial tissue. | NA | {
"id": 220972,
"name": "MARCHF8",
"pos": [
102,
5
]
} | {
"id": "C0018802",
"name": "Congestive heart failure",
"pos": [
46,
13
]
} |
To investigate the effect of RLX-expressing adenovirus on expression of various extracellular matrix (ECM) components in primary keloid spheroids. | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
102,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
44,
10
]
} |
These findings indicate that Nox4 is prominently expressed in the adventitia and contributes to altered fibroblast behavior, hypertensive vascular remodeling, and development of PH. | NA | {
"id": 50507,
"name": "NOX4",
"pos": [
29,
4
]
} | {
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
138,
19
]
} |
The interaction between HFE genotypes and hepatitis viruses for HCC was estimated by multivariate analysis adjusting for the confounding effect of alcohol intake, area of residence and months of follow-up. | genomic_alterations | {
"id": 3077,
"name": "HFE",
"pos": [
24,
3
]
} | {
"id": "C0019159",
"name": "Hepatitis A",
"pos": [
42,
9
]
} |
The neuropathological investigation of the brain in a monkey model of autism spectrum disorder with ABCA13 deletion. | genomic_alterations | {
"id": 154664,
"name": "ABCA13",
"pos": [
100,
6
]
} | {
"id": "C0524528",
"name": "Pervasive Development Disorder",
"pos": [
70,
24
]
} |
In chronic atopic dermatitis, lichen planus, mycosis fungoides, and pityriasis rubra pilaris, Cdsn immunoreactivity was confined to stratum corneum and upper stratum granulosum with no stratum spinosum immunoreactivity. | NA | {
"id": 1041,
"name": "CDSN",
"pos": [
94,
4
]
} | {
"id": "C0026948",
"name": "Mycosis Fungoides",
"pos": [
45,
17
]
} |
We have identified a third Ewing's sarcoma translocation, the t(7;22)(p22;q12), that fuses EWS to the human homologue of the murine ETS gene ER81. | NA | {
"id": 2115,
"name": "ETV1",
"pos": [
141,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
43,
13
]
} |
In a previous large-scale gene expression profiling study of renal epithelial neoplasms, human beta-defensin-1 (DEFB1) was found to be significantly down-regulated in conventional clear cell (renal) carcinoma. | NA | {
"id": 1672,
"name": "DEFB1",
"pos": [
112,
5
]
} | {
"id": "C1368683",
"name": "Epithelioma",
"pos": [
67,
20
]
} |
In both genders, current weight, BMI, waist circumference, WHR and weight gain over time (either measures of maximal weight ever achieved minus weight at 20 y or current weight minus weight at 20 y) were similar in carriers and non-carriers of the UCP1 A-3826G mutation (P>0.05). | NA | {
"id": 7350,
"name": "UCP1",
"pos": [
248,
4
]
} | {
"id": "C0043094",
"name": "Weight Gain",
"pos": [
67,
11
]
} |
Gaseous contrast transcranial Doppler was used to diagnose right-to-left shunt and MRI to detect WML. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
83,
3
]
} | {
"id": "C0428871",
"name": "Right to left cardiovascular shunt (finding)",
"pos": [
59,
19
]
} |
Characterization of TRIM31, upregulated in gastric adenocarcinoma, as a novel RBCC protein. | NA | {
"id": 51127,
"name": "TRIM17",
"pos": [
78,
4
]
} | {
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
43,
22
]
} |
The regenerating gene (REG) IV gene was isolated from a cDNA library of ulcerative colitis (UC) tissues. | NA | {
"id": 8114,
"name": "IV",
"pos": [
28,
7
]
} | {
"id": "C0009324",
"name": "Ulcerative Colitis",
"pos": [
72,
18
]
} |
We examined mutations of both TSC genes in 6 Japanese patients with TSC-LAM and 22 patients with sporadic LAM and identified six unique and novel mutations. | genomic_alterations | {
"id": 7248,
"name": "TSC1",
"pos": [
30,
3
]
} | {
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
68,
3
]
} |
C9ORF72 was screened for expansions in familial and sporadic ALS. | NA | {
"id": 203228,
"name": "C9orf72",
"pos": [
0,
7
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
52,
8
]
} |
Deregulation of expression of the IGF-I gene can affect normal epithelium development and in case of HPV infection can potentially disrupt the virus life cycle and stimulate its passage into the oncogenic life cycle or persistent viral infections. | NA | {
"id": 3479,
"name": "IGF1",
"pos": [
34,
5
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
230,
16
]
} |
The murine homologue of OMP is tightly linked to the autosomal recessive deafness gene sh-1. | NA | {
"id": 4975,
"name": "OMP",
"pos": [
24,
3
]
} | {
"id": "C0011053",
"name": "Deafness",
"pos": [
73,
8
]
} |
The continuous administration of RIL-2 over a 4-day period resulted in the in vivo generation of lymphokine-activated killer cells in the spleen and peritoneal exudate. | NA | {
"id": 8572,
"name": "PDLIM4",
"pos": [
33,
3
]
} | {
"id": "C0003962",
"name": "Ascites",
"pos": [
149,
18
]
} |
To compare the expression pattern of five microRNAs (miRNAs) (146b, -181b, -21, -221, -222) of papillary thyroid carcinoma (PTC) and hyalinizing trabecular tumour of the thyroid (HTT). | NA | {
"id": 3064,
"name": "HTT",
"pos": [
179,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
156,
6
]
} |
Within the last decade more patients with severe haemophilia were switched to a prophylactic regimen going along with a moderate increase in factor consumption achieving a low ABR and AJBR. | biomarker | {
"id": 29,
"name": "ABR",
"pos": [
176,
3
]
} | {
"id": "C0684275",
"name": "Hemophilia, NOS",
"pos": [
49,
11
]
} |
Slamming the brakes on lupus with CAR T cells. | biomarker | {
"id": 846,
"name": "CASR",
"pos": [
34,
3
]
} | {
"id": "C0409974",
"name": "Lupus Erythematosus",
"pos": [
23,
5
]
} |
HAS2 and CD44 in breast tumorigenesis. | NA | {
"id": 960,
"name": "CD44",
"pos": [
9,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
24,
13
]
} |
Samples from the mucosa of normal ileal pouch-anal anastomoses obtained several years after the surgical procedure had a P-gp immunostaining pattern which was similar to that of rectal samples from patients with refractory UC. | NA | {
"id": 5243,
"name": "ABCB1",
"pos": [
121,
4
]
} | {
"id": "C0086447",
"name": "Ileal Pouches",
"pos": [
34,
11
]
} |
Mutations of BRAF (B-type Raf kinase) were detected in 23 and mutation of NRAS (Neuroblastoma RAS Viral Oncogene Homolog) in 2 papillary thyroid cancers. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
74,
4
]
} | {
"id": "C0238463",
"name": "Papillary thyroid carcinoma",
"pos": [
127,
25
]
} |
This review tries to survey the expression patterns of inducible transcription factors (ITFs) of the Jun (c-Jun, JunB, JunD) and Fos (c-Fos, FosB, Fra) families as well as of zinc finger proteins (Krox-20 and Krox-24) and their mRNAs following ischemia, epileptic seizures, hypoglycemia, axotomy and(programmed) neuronal death in the mammalian brain. | NA | {
"id": 3726,
"name": "JUNB",
"pos": [
113,
4
]
} | {
"id": "C0020615",
"name": "Hypoglycemia",
"pos": [
274,
12
]
} |
Lack of association between common genetic variation in endothelial lipase (LIPG) and the risk for CAD and DVT. | genomic_alterations | {
"id": 9388,
"name": "LIPG",
"pos": [
56,
18
]
} | {
"id": "C0151950",
"name": "Deep thrombophlebitis",
"pos": [
107,
3
]
} |
Our results demonstrate that HSP72 induction occurs in human liver disease, thus, HSP72 represents an attractive therapeutic target owing to its broad hepatoprotective functions. | biomarker | {
"id": 3304,
"name": "HSPA1B",
"pos": [
29,
5
]
} | {
"id": "C0023895",
"name": "Liver diseases",
"pos": [
61,
13
]
} |
To study abnormalities of the FHIT gene in human hepatocellular carcinoma (HCC), eight liver cancer cell lines, 18 matched tumorous and non-tumorous tissues from patients with HCC and three normal liver tissues were analysed by microsatellite polymorphism analysis and reverse transcription of FHIT mRNA followed by polymerase chain reaction (PCR) amplification and sequencing of the products. | NA | {
"id": 2272,
"name": "FHIT",
"pos": [
294,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
9,
13
]
} |
These results reveal a previously unknown regulation of PKM2 on DDB2 and provide a possible mechanism for UV induced tumorigenesis. | NA | {
"id": 1643,
"name": "DDB2",
"pos": [
64,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
117,
13
]
} |
To further evaluate the relevance of LDL-receptor (LDLr) pathway and heparan sulfate proteoglycans (HSPGs) in TG homeostasis, we analyzed fasting and postprandial TG levels in mice bearing combined heterozygous mutations in both Exostosin (Ext) 1 and Ldlr, in subjects with hereditary multiple exostosis (HME) due to a heterozygous loss-of-function mutation in EXT1 or EXT2 (N = 13), and in patients with heterozygous mutations in LDLR [familial hypercholesterolemia (FH)] and SNPs in major HSPG-related genes (n = 22). | genomic_alterations | {
"id": 2131,
"name": "EXT1",
"pos": [
361,
4
]
} | {
"id": "C0745103",
"name": "Hyperlipoproteinemia Type IIa",
"pos": [
437,
29
]
} |
In the cortex, expression of Hsp27 is first seen at day 1 postlesion (PL) surrounding the neurodegenerative area, becoming restricted to the glial scar at longer survival times. | NA | {
"id": 3315,
"name": "HSPB1",
"pos": [
29,
5
]
} | {
"id": "C2004491",
"name": "Cicatrix",
"pos": [
147,
4
]
} |
Transgenic mice overexpressing LMW-cyclin E have increased incidence of mammary tumors and distant metastasis when compared with mice that had full-length cyclin E. To specifically test the requirement for Cdk2 in LMW-cyclin E-mediated mammary tumorigenesis, we generated transgenic mice, which expressed LMW-cyclin E in a Cdk2-deficient background. | NA | {
"id": 898,
"name": "CCNE1",
"pos": [
309,
8
]
} | {
"id": "C1512981",
"name": "Mammary Tumorigenesis",
"pos": [
236,
21
]
} |
We retrospectively analyzed the survival impact of estimated folate intake by a food frequency questionnaire and MTHFR and TYMS polymorphisms in 132 patients with advanced gastric cancer who were treated with first-line FU-based chemotherapy. | genomic_alterations | {
"id": 4524,
"name": "MTHFR",
"pos": [
113,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
172,
14
]
} |
FAP-α and DPPIV may increase the invasive capacity of keloid fibroblasts rather than by modulating inflammation or ECM production. | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
115,
3
]
} | {
"id": "C0022548",
"name": "Keloid",
"pos": [
54,
6
]
} |
CRHR1 gene (rs1876828, rs242939 and rs242941) and BDNF gene (rs6265) were identified in the samples of patients diagnosed with recurrent MDD and matched controls. | genomic_alterations | {
"id": 627,
"name": "BDNF",
"pos": [
50,
4
]
} | {
"id": "C1269683",
"name": "Major Depressive Disorder",
"pos": [
137,
3
]
} |
The scarcity of this alpha-synuclein gain-of-function variant in RLS might suggest that a low alpha-synuclein function via the SNARE complex in presynaptic vesicle release and neurotransmission of the striatum contributes to RLS pathogenesis. | NA | {
"id": 6622,
"name": "SNCA",
"pos": [
94,
15
]
} | {
"id": "C3814530",
"name": "Skin Vesicle",
"pos": [
156,
7
]
} |
Our results provided a novel function of AMPK in cancer migration, and suggested that a combination of AMPK activation and PKM2 depletion or inhibition can be a new strategy to achieve better therapeutic effects for TC patients. | biomarker | {
"id": 5315,
"name": "PKM",
"pos": [
123,
4
]
} | {
"id": "C0549473",
"name": "Thyroid carcinoma",
"pos": [
216,
2
]
} |
It has recently been shown that among other reasons, the systemic inflammation in the brain death cadaveric organ donor contributes to subsequent ARF in the recipient. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
146,
3
]
} | {
"id": "C0006110",
"name": "Brain Death",
"pos": [
86,
11
]
} |
Complete absence of this protein is usually associated with a severe phenotype characterized by drastic muscle weakness and characteristic changes in white matter in cerebral magnetic resonance imaging (MRI). | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
203,
3
]
} | {
"id": "C0151786",
"name": "Muscle Weakness",
"pos": [
104,
15
]
} |
Expression of IFN-alpha was increased in lymphoid tonsillar tissue (LT) of patients with progressive (HIV(prog)) compared with nonprogressive (HIV(NP)) HIV-1 disease and to uninfected controls. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
14,
9
]
} | {
"id": "C3839460",
"name": "Nonprogressive",
"pos": [
127,
14
]
} |
The vesicle-associated membrane protein B (VAPB) gene has been genetically linked to ALS in several large Brazilian families in which the disorder is caused by a proline to serine mutation at codon 56 (P56S). | genomic_alterations | {
"id": 9217,
"name": "VAPB",
"pos": [
43,
4
]
} | {
"id": "C0002736",
"name": "Amyotrophic Lateral Sclerosis",
"pos": [
85,
3
]
} |
Elevated IFN scores were positively associated with the current presence of anti-double-stranded DNA (anti-dsDNA) antibodies (P = 0.007) or hypocomplementemia (P = 0.007). | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
9,
3
]
} | {
"id": "C0853888",
"name": "Hypocomplementaemia",
"pos": [
140,
18
]
} |
We assessed whether the risk alleles in TCF7L2, CDKAL1, HHEX, SLC30A8, IGF2BP2, CDKN2A/2B, JAZF1, and WFS1 reduce insulin secretion in an additive manner and whether their impact is influenced by insulin sensitivity. | NA | {
"id": 3087,
"name": "HHEX",
"pos": [
56,
4
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
196,
19
]
} |
Chronic mountain sickness (CMS) and high altitude pulmonary hypertension (HAPH) have been well described in different mountainous regions of the world as chronic high altitude (HA) diseases. | NA | {
"id": 23607,
"name": "CD2AP",
"pos": [
27,
3
]
} | {
"id": "C0340552",
"name": "High altitude pulmonary hypertension",
"pos": [
36,
36
]
} |
DNA of minute specimens taken from formalin-fixed and paraffin-embedded tissue was used as a template for the polymerase chain reaction (PCR) to examine whether the c-Ki-ras gene is activated in atypical bronchioloalveolar cell hyperplasia (ABH) of human lung. | NA | {
"id": 8846,
"name": "ALKBH1",
"pos": [
241,
3
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
228,
11
]
} |
The influence of genotype and other parameters on blood pressure was determined by analysis of variance (ANOVA) and multivariate analyses. | NA | {
"id": 4858,
"name": "NOVA2",
"pos": [
105,
5
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
50,
14
]
} |
These results suggest an important role of p-PTEN for cell survival after ischemia as an upstream regulator for PI3K-Akt. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
112,
4
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
74,
8
]
} |
The PI3K/AKT/mTOR pathway plays a crucial role in the development of leiomyosarcomas (LMSs). | biomarker | {
"id": 207,
"name": "AKT1",
"pos": [
9,
3
]
} | {
"id": "C1851710",
"name": "LATERAL MENINGOCELE SYNDROME",
"pos": [
86,
3
]
} |
Here, we report estrogen receptor-dependent p38 activation by estrogens in endometrial adenocarcinoma cells and in vitro and in vivo phosphorylation of the estrogen receptor alpha mediated through p38. | NA | {
"id": 10598,
"name": "AHSA1",
"pos": [
197,
3
]
} | {
"id": "C1153706",
"name": "Endometrial adenocarcinoma",
"pos": [
75,
26
]
} |
Here we show that the consequences of variants at 2 such loci, PARK16 and LRRK2, are highly interrelated, both in terms of their broad impacts on human brain transcriptomes of unaffected carriers, and in terms of their associations with PD risk. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
74,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
237,
2
]
} |
The present work demonstrates the existence of a db/db-specific up-regulation of adipocyte autotaxin expression, which could be related to the severe type 2 diabetes phenotype and adipocyte insulin resistance, rather than excess adiposity in itself. | NA | {
"id": 5168,
"name": "ENPP2",
"pos": [
91,
9
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
150,
15
]
} |
Immunotherapy for human renal cell carcinoma by adoptive transfer of autologous transforming growth factor beta-insensitive CD8+ T cells. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
124,
3
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
24,
20
]
} |
Potocki-Lupski syndrome (PTLS; MIM #610883), characterized by neurobehavioral abnormalities, intellectual disability and congenital anomalies, is caused by a 3.7-Mb duplication in 17p11.2. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
31,
3
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
93,
23
]
} |
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. | NA | {
"id": 55143,
"name": "CDCA8",
"pos": [
20,
3
]
} | {
"id": "C0010709",
"name": "Cyst",
"pos": [
113,
5
]
} |
The presence of two polymorphisms thought to decrease circulating TNF-alpha was associated with higher mean Z-scores for height and a trend toward less growth retardation. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
66,
9
]
} | {
"id": "C0151686",
"name": "Growth retardation",
"pos": [
152,
18
]
} |
Saguenay-Lac-Saint-Jean (SLSJ) cytochrome oxidase (COX) deficiency (LS French-Canadian type [LSFC] [MIM 220111]), an autosomal recessive form of congenital lactic acidosis, presents with developmental delay and hypotonia. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
100,
3
]
} | {
"id": "C0424605",
"name": "Developmental delay (disorder)",
"pos": [
187,
19
]
} |
These data show that overexpression of beclin 1 in the mouse cerebellum is able to rescue and hinder the progression of motor deficits when administered to pre- and post-symptomatic stages of the disease. | NA | {
"id": 8678,
"name": "BECN1",
"pos": [
39,
8
]
} | {
"id": "C0521654",
"name": "Neurologic Deficits",
"pos": [
120,
14
]
} |
This study identified KIF15 as a critical regulator that promotes pancreatic cancer proliferation, broadening our understanding of KIF15 function in tumorigenesis. | biomarker | {
"id": 56992,
"name": "KIF15",
"pos": [
22,
5
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
66,
17
]
} |
To identify genes that affect these traits and disorders, we looked for association between markers in candidate genes (apolipoprotein AII (apo AII), apolipoprotein AI-CIII-AIV gene cluster (apo AI-CIII-AIV), apolipoprotein E (apo E), cholesteryl ester transfer protein (CETP), cholesterol 7alpha-hydroxylase (CYP7a), hepatic lipase (HL), and microsomal triglyceride transfer protein (MTP)) and known risk factors (triglycerides (Tg), total cholesterol (TC), apolipoprotein AI (apo AI), apolipoprotein AII (apo AII), apolipoprotein B (apo B), body mass index (BMI), blood pressure (BP), leptin, and fasting blood sugar (FBS) levels.) | NA | {
"id": 338,
"name": "APOB",
"pos": [
517,
16
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
543,
15
]
} |
The BCP/PC mutations were found to be associated with increased HBeAg negativity, higher alanine aminotransferase level and lower viral load. | NA | {
"id": 2875,
"name": "GPT",
"pos": [
89,
24
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
130,
10
]
} |
This issue was examined in a model of ischemia-reperfusion stress when cultures of endothelial cells (EC) from human umbilical vein were infected with virus-based vectors expressing Hsp70 or Hsp27, or Hsp56, or green fluorescent protein (GFP) and exposed to 20 hours of hypoxia followed by reoxygenation. | NA | {
"id": 3315,
"name": "HSPB1",
"pos": [
191,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
270,
7
]
} |
Twenty-one LN patients (100.0% female) with persistent proteinuria were treated with corticosteroid and two immunosuppressants (mycophenolate mofetil [MMF] plus cyclosporine A [CSA]). | genomic_alterations | {
"id": 1443,
"name": "CSH2",
"pos": [
177,
3
]
} | {
"id": "C0861352",
"name": "Lobular Neoplasia",
"pos": [
11,
2
]
} |
She was found to have the Glu526Val fibrinogen alpha-chain variant that causes autosomal dominant hereditary systemic amyloidosis. | NA | {
"id": 2217,
"name": "FCGRT",
"pos": [
47,
11
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
36,
10
]
} |
In a randomized placebo-controlled clinical trial, we contrasted pain relief (3-month treatment period), and anatomical (gray matter density [GMD], assessed by voxel-based morphometry) and functional connectivity (resting state fMRI nodal degree count [DC]) adaptations, in 39 knee osteoarthritis (OA) patients (22 females), randomized to duloxetine (DLX, 60 mg once daily) or placebo. | biomarker | {
"id": 2762,
"name": "GMDS",
"pos": [
142,
3
]
} | {
"id": "C0409959",
"name": "Osteoarthritis, Knee",
"pos": [
277,
19
]
} |
Digoxin downregulates NDRG1 and VEGF through the inhibition of HIF-1α under hypoxic conditions in human lung adenocarcinoma A549 cells. | NA | {
"id": 10397,
"name": "NDRG1",
"pos": [
22,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
76,
7
]
} |
Laboratory data and clinical features demonstrated that the patients have a mild form of ECHS1 deficiency harbouring defective valine catabolic and β-oxidation pathways. | NA | {
"id": 1892,
"name": "ECHS1",
"pos": [
89,
5
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
76,
4
]
} |
In the present study, stage-specific expression of secreted larval acidic protein 1 (SLAP1) was identified; an ALT orthologue from Onchocerca volvulus was cloned, expressed, and purified as a recombinant protein. | biomarker | {
"id": 6503,
"name": "SLA",
"pos": [
85,
5
]
} | {
"id": "C0042961",
"name": "Intestinal Volvulus",
"pos": [
142,
8
]
} |
There was no significant association to age and sex, or to key clinical or metabolic parameters (BMI, WHR, HbA1c, total cholesterol, LDL cholesterol, HDL cholesterol, systolic and diastolic blood pressure, albumin, uric acid) or immunological parameters (CRP, IL-6, sIL-6R, TNFalpha, sTNFalpha R60, sTNFalpha R80). | NA | {
"id": 3569,
"name": "IL6",
"pos": [
260,
4
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
180,
24
]
} |
On MRI, all patients fulfilled CAA-modified Boston criteria and 9 showed cortical ischemia in the surrounding cortex or the vicinity of superficial siderosis. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
3,
3
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
82,
8
]
} |
ETS-1 is involved in cellular functions such as proliferation, migration, invasion, apoptosis and angiogenesis. | biomarker | {
"id": 2113,
"name": "ETS1",
"pos": [
0,
5
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
74,
8
]
} |
Nucleotide excision repair (NER) is instrumental in removing DNA lesions caused by ultraviolet (UV) radiation, the dominant risk factor for keratinocyte carcinoma, including basal cell carcinoma (BCC) and squamous cell carcinoma (SCC). | NA | {
"id": 7376,
"name": "NR1H2",
"pos": [
28,
3
]
} | {
"id": "C0007117",
"name": "Basal cell carcinoma",
"pos": [
174,
20
]
} |
Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24. | NA | {
"id": 928,
"name": "CD9",
"pos": [
159,
3
]
} | {
"id": "C0699739",
"name": "Sensory Neuropathy, Hereditary",
"pos": [
19,
29
]
} |
We transfected P-LAP cDNA into A-MEC cells (endometrial adenocarcinoma cell line), and A-MEC-LAP cells displayed a 1.8-fold, 2.0-fold and 1.7-fold increase in IC(50) against paclitaxel, carboplatin and cisplatin respectively. | NA | {
"id": 53,
"name": "ACP2",
"pos": [
93,
3
]
} | {
"id": "C1153706",
"name": "Endometrial adenocarcinoma",
"pos": [
44,
26
]
} |
We conclude that serum hepcidin levels can predict the hematologic responsiveness to erythropoiesis-stimulating agent therapy in anemia of chronic disease. | therapeutic | {
"id": 57817,
"name": "HAMP",
"pos": [
23,
8
]
} | {
"id": "C0002871",
"name": "Anemia",
"pos": [
129,
6
]
} |
NanoString analysis of 51 transcripts in 17 PTC and 17 benign nodule samples obtained from different donors and in 24 pairs of benign and PTC nodules, obtained from the same donor (multinodular goiters), confirmed significant alterations in the levels of BMAL1, c-MET, c-KIT, TIMP1, and other transcripts. | NA | {
"id": 4233,
"name": "MET",
"pos": [
264,
3
]
} | {
"id": "C0028259",
"name": "Nodule",
"pos": [
62,
6
]
} |
Distinction of hydatidiform moles from nonmolar specimens and their subclassification as complete hydatidiform mole (CHM) versus partial hydatidiform mole (PHM) are important for clinical practice and investigational studies to refine ascertainment of risk of persistent gestational trophoblastic disease which differs among these entities. | NA | {
"id": 5066,
"name": "PAM",
"pos": [
156,
3
]
} | {
"id": "C0334529",
"name": "Hydatidiform Mole, Partial",
"pos": [
129,
25
]
} |
Gene-based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: association with HMG2L1 and TOM1. | genomic_alterations | {
"id": 10043,
"name": "TOM1",
"pos": [
120,
4
]
} | {
"id": "C2700438",
"name": "MAJOR AFFECTIVE DISORDER 7",
"pos": [
38,
26
]
} |
All patients were treated with low dose-rate BRT for their primary lesions and underwent strict follow-up under a wait-and-see policy for cervical lymphatic metastasis. | NA | {
"id": 7301,
"name": "TYRO3",
"pos": [
45,
3
]
} | {
"id": "C0024232",
"name": "Lymphatic Metastasis",
"pos": [
147,
20
]
} |
IL-5, known to be produced by T lymphocytes and eosinophils, is a key regulator of intestinal diseases such as parasitosis or eosinophilic gastroenteritis. | biomarker | {
"id": 3567,
"name": "IL5",
"pos": [
0,
4
]
} | {
"id": "C1262481",
"name": "Eosinophilic gastroenteritis",
"pos": [
126,
28
]
} |
We conclude that the A-7 or Ala 83 alleles of the MGP gene may confer an increased risk of plaque calcification and MI; however, the observed relationships are weak or limited to subgroups of patients and therefore need confirmation. | NA | {
"id": 4256,
"name": "MGP",
"pos": [
50,
8
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
91,
6
]
} |
The aim of the current study was to determine if ACE genotype is associated with altered pulmonary function and exercise intolerance in patients with treated CHF. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
49,
3
]
} | {
"id": "C3160731",
"name": "Pulmonary function (finding)",
"pos": [
89,
18
]
} |
Using a linear regression model (including age, height, weight, smoking, and calcium intake as covariates), significant interactions between the COMT genotype and PA were seen for aBMD at all sites and for trabecular vBMD in both the radius and the tibia. | NA | {
"id": 1312,
"name": "COMT",
"pos": [
145,
4
]
} | {
"id": "C0489786",
"name": "Height",
"pos": [
48,
6
]
} |
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