Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
about
Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterizationWaardenburg syndromeHirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical featuresNeurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain.Serum response factor-GATA ternary complex required for nuclear signaling by a G-protein-coupled receptorA molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathiesIntracellular 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 receptorMyelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutationABCD syndrome is caused by a homozygous mutation in the EDNRB geneMolecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutationsEndothelin-3 frameshift mutation in congenital central hypoventilation syndromeGermline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patientGermline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung diseasePartial requirement of endothelin receptor B in spiral ganglion neurons for postnatal development of hearingA novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient miceGdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in miceA sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathyEDNRB 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.A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicleTransgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease.At the speed of sound: gene discovery in the auditory systemBeginning of a molecular era in hearing and deafness.Hirschsprung disease and other enteric dysganglionoses.Endothelin signalling in iridophore development and stripe pattern formation of zebrafishFunctional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.Transgenic animal models for the analysis of the renal endothelin system.Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation.PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1QTL 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 genome-wide association study identifies potential susceptibility loci for Hirschsprung diseaseA 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.1998 ASHG presidential address. Making genomic medicine a realityHirschsprung 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.Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes.Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.
P2860
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P2860
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
description
1996 nî lūn-bûn
@nan
1996 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի ապրիլին 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
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@ast
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@en
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@en-gb
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@nl
type
label
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@ast
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@en
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@en-gb
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@nl
prefLabel
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@ast
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@en
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@en-gb
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutation of the endothelin-3 g ...... se (Shah-Waardenburg syndrome)
@en
P2093
P2860
P2888
P3181
P356
10.1038/NG0496-442
P407
P577
1996-04-01T00:00:00Z
P6179
1030201132