A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
about
Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterizationMutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)Waardenburg syndromeHirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23Brachyury-related transcription factor Tbx2 and repression of the melanocyte-specific TRP-1 promoter.Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical featuresRetrotransposon insertion in SILV is responsible for merle patterning of the domestic dog.Neurological 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 receptorThe locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28A haplotype map of the human genomeExclusion of EDNRB and KIT as the basis for white spotting in Border ColliesA genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic casesEnteric nervous system development: migration, differentiation, and diseaseThe emerging roles of ribosome biogenesis in craniofacial developmentBuilding a second brain in the bowelA 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 mutationA fourth isoform of endothelin-converting enzyme (ECE-1) is generated from an additional promoter molecular cloning and characterizationIs there a role for the IHH gene in Hirschsprung's disease?ABCD syndrome is caused by a homozygous mutation in the EDNRB geneMolecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutationsSOX10 mutations in patients with Waardenburg-Hirschsprung diseaseA homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)Endothelin-3 frameshift mutation in congenital central hypoventilation syndromeExclusion of linkage between RET and neuronal intestinal dysplasia type BGermline 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 diseaseEndothelin-1/endothelin-B receptor-mediated increases in NHE3 activity in chronic metabolic acidosisPartial requirement of endothelin receptor B in spiral ganglion neurons for postnatal development of hearingCollecting duct-specific knockout of endothelin-1 alters vasopressin regulation of urine osmolalityCollecting duct-specific knockout of endothelin-1 causes hypertension and sodium retentionA novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient miceGdnf haploinsufficiency causes Hirschsprung-like intestinal obstruction and early-onset lethality in miceNull mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat colorGenome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung diseaseA sensitized mutagenesis screen identifies Gli3 as a modifier of Sox10 neurocristopathy2013 William Allan Award: My multifactorial journeyEDNRB mutations cause Waardenburg syndrome type II in the heterozygous state
P2860
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P2860
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
description
1994 nî lūn-bûn
@nan
1994 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
A missense mutation of the end ...... tigenic Hirschsprung's disease
@ast
A missense mutation of the end ...... tigenic Hirschsprung's disease
@en
A missense mutation of the end ...... tigenic Hirschsprung's disease
@en-gb
A missense mutation of the end ...... tigenic Hirschsprung's disease
@nl
type
label
A missense mutation of the end ...... tigenic Hirschsprung's disease
@ast
A missense mutation of the end ...... tigenic Hirschsprung's disease
@en
A missense mutation of the end ...... tigenic Hirschsprung's disease
@en-gb
A missense mutation of the end ...... tigenic Hirschsprung's disease
@nl
prefLabel
A missense mutation of the end ...... tigenic Hirschsprung's disease
@ast
A missense mutation of the end ...... tigenic Hirschsprung's disease
@en
A missense mutation of the end ...... tigenic Hirschsprung's disease
@en-gb
A missense mutation of the end ...... tigenic Hirschsprung's disease
@nl
P2093
P3181
P1433
P1476
A missense mutation of the end ...... tigenic Hirschsprung's disease
@en
P2093
A Chakravart
E G Puffenberger
M Yanagisawa
S S Washington
P304
P3181
P356
10.1016/0092-8674(94)90016-7
P407
P577
1994-12-30T00:00:00Z