Varaico: Literature-Extracted Genetic Variants

Gene:EDNRB
Variant:p.G57S
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EDNRB

NM_001122659.3:p.G57S

Associated Papers

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Öfverholm I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1

[The association of LYS198ASN -polymorphism of endothelin-1 gene (EDN1) with development of arterial hypertension in ukrainian population].

Smiianova YO et al.

Wiadomosci Lekarskie (warsaw, Poland : 1960), 2019

Positive Association between EDN1 rs5370 (Lys198Asn) Polymorphism and Large Artery Stroke in a Ukrainian Population.

Dubovyk YI et al.

Disease Markers, 2018

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure

Prediction of response to anti-EGFR antibody-based therapies by multigene sequencing in colorectal cancer patients.

Lupini L et al.

Bmc Cancer, 2015

26508446 (PubMed )
Supplement: 12885_2015_1752_MOESM3_ESM.xlsx › Foglio1

Effect of SNP polymorphisms of EDN1, EDNRA, and EDNRB gene on ischemic stroke.

Zhang L et al.

Cell Biochemistry and Biophysics, 2014

EDNRB gene variants and melanoma risk in two southern European populations.

Spica T et al.

Clinical and Experimental Dermatology, 2011

Polymorphisms of EDNRB, ATG, and ACE genes in salt-sensitive hypertension.

Caprioli J et al.

Canadian Journal of Physiology and Pharmacology, 2008

G protein-coupled receptors disrupted in human genetic disease.

Thompson MD et al.

Methods in Molecular Biology (clifton, N.j.), 2008

A French CDK4-positive melanoma family with a co-inherited EDNRB mutation.

Soufir N et al.

Journal of Dermatological Science, 2007

Association between endothelin receptor B nonsynonymous variants and melanoma risk.

Soufir N et al.

Journal of the National Cancer Institute, 2005

Polymorphisms in genes of the endothelin system and cerebral small-vessel disease.

Gormley K et al.

Stroke, 2005

The G protein-coupled receptors: pharmacogenetics and disease.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2005

The pathogenesis of Hirschsprung disease.

Belknap WM

Current Opinion in Gastroenterology, 2002

Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling.

Fuchs S et al.

Molecular Medicine (cambridge, Mass.), 2001

Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden.

Svensson PJ et al.

Clinical Genetics, 1999

Mutational analysis of the endothelin-B receptor gene in Japanese Hirschsprung's disease.

Inoue M et al.

Journal of Pediatric Surgery, 1998

Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B).

Svensson PJ et al.

Human Genetics, 1998

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

Amiel J et al.

Human Molecular Genetics, 1996

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."