Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
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Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterizationWaardenburg syndromeIntracellular signaling mechanisms leading to synergistic effects of endothelin-1 and stem cell factor on proliferation of cultured human melanocytes. Cross-talk via trans-activation of the tyrosine kinase c-kit receptorABCD syndrome is caused by a homozygous mutation in the EDNRB geneGermline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung diseaseEDNRB mutations cause Waardenburg syndrome type II in the heterozygous stateGenetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations.Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease.Hirschsprung disease and other enteric dysganglionoses.Endothelin signalling in iridophore development and stripe pattern formation of zebrafishIdiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation.QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations.Genetic background impacts developmental potential of enteric neural crest-derived progenitors in the Sox10Dom model of Hirschsprung disease.A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.Hirschsprung disease, associated syndromes, and genetics: a review.Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses.Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome.Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb.Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants.RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.Molecular characterization of four induced alleles at the Ednrb locusHirschsprung disease is associated with an L286P mutation in the fifth transmembrane domain of the endothelin-B receptor in the N-ethyl-N-nitrosourea-induced mutant line.Visceral neuropathy and intestinal pseudo-obstruction in a murine model of a nuclear inclusion disease.Development and developmental disorders of the enteric nervous system.Hirschsprung disease: a developmental disorder of the enteric nervous system.Knockout mouse models of Hirschsprung's disease.Biphasic expression of two paracrine melanogenic cytokines, stem cell factor and endothelin-1, in ultraviolet B-induced human melanogenesis.Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.Hirschsprung's disease genes and the development of the enteric nervous system.Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?Mutation of RET proto-oncogene in Hirschsprung's disease and intestinal neuronal dysplasia.Abnormalities of the enteric nervous system in heterozygous endothelin B receptor deficient (spotting lethal) rats resembling intestinal neuronal dysplasia.New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease.Vascular and neural stem cells in the gut: do they need each other?Transgenic rescue of aganglionosis and piebaldism in lethal spotted mice.Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden
P2860
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P2860
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
description
1996 nî lūn-bûn
@nan
1996 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի մարտին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
@ast
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
@en
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
@nl
type
label
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
@ast
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
@en
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
@nl
prefLabel
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
@ast
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
@en
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
@nl
P2093
P50
P356
P1476
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
@en
P2093
C Nihoul-Fékété
P304
P356
10.1093/HMG/5.3.355
P407
P577
1996-03-01T00:00:00Z