Associated Papers
Common activation mechanism of class A GPCRs.
Zhou Q et al.
Elife, 2019
31855179 (PubMed )
Supplement: elife-50279-fig1-data2.xlsx › Data_from_PubMed
EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Issa S et al.
Human Mutation, 2017
Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
Jabeen R et al.
Molecular Biology Reports, 2012
Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in 80 patients with Hirschsprung disease (using multiplex ligation-dependent probe amplification).
Serra A et al.
Annals of Human Genetics, 2009
Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.
Lin YC et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
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
Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients.
Abe Y et al.
Biochemical and Biophysical Research Communications, 2000
Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies.
Sakai T et al.
European Journal of Pediatrics, 2000
Genetic aspects of Hirschsprung's disease.
Kusafuka T et al.
Seminars in Pediatric Surgery, 1998
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
Amiel J et al.
Human Molecular Genetics, 1996
[Pharmacological chaperones: a potential therapeutic treatment for conformational diseases].
Mendre C et al.
Medecine Sciences : M/s, 0
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