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Article: Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprungs disease

TitleHeterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprungs disease
Authors
Issue Date1996
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 1996, v. 5 n. 3, p. 355-357 How to Cite?
AbstractHirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Two susceptibility genes have been recently identified in HSCR, namely the RET proto-oncogene and the endothelin B receptor (EDNRB) gene. Hitherto however, homozygosity for EDNRB mutations accounted for the HSCR-Waardenburg syndrome (WS) association. Here, we report heterozygous EDNRB missense mutations (G57S, R319W and P383L) in isolated HSCR. These data might suggest that EDNRB mutations could be dosage sensitive: heterozygosity would predispose to isolated HSCR with incomplete penetrance, while homozygosity would result in more complex neurocristopathies associating HSCR and WS features. In addition, the present data give further support to the role of the endothelin-signalling pathway in the development of neural crest-derived enteric neurons.
Persistent Identifierhttp://hdl.handle.net/10722/84056
ISSN
2015 Impact Factor: 5.985
2015 SCImago Journal Rankings: 4.288

 

DC FieldValueLanguage
dc.contributor.authorAmiel, Jen_HK
dc.contributor.authorAttie, Ten_HK
dc.contributor.authorJan, Den_HK
dc.contributor.authorPelet, Aen_HK
dc.contributor.authorEdery, Pen_HK
dc.contributor.authorBidaud, Cen_HK
dc.contributor.authorLacombe, Den_HK
dc.contributor.authorTam, PKHen_HK
dc.contributor.authorSimeoni, Jen_HK
dc.contributor.authorFlori, Een_HK
dc.contributor.authorNihoul-Fekete, Cen_HK
dc.contributor.authorMunnich, Aen_HK
dc.contributor.authorLyonnet, Sen_HK
dc.date.accessioned2010-09-06T08:48:24Z-
dc.date.available2010-09-06T08:48:24Z-
dc.date.issued1996en_HK
dc.identifier.citationHuman Molecular Genetics, 1996, v. 5 n. 3, p. 355-357en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/84056-
dc.description.abstractHirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Two susceptibility genes have been recently identified in HSCR, namely the RET proto-oncogene and the endothelin B receptor (EDNRB) gene. Hitherto however, homozygosity for EDNRB mutations accounted for the HSCR-Waardenburg syndrome (WS) association. Here, we report heterozygous EDNRB missense mutations (G57S, R319W and P383L) in isolated HSCR. These data might suggest that EDNRB mutations could be dosage sensitive: heterozygosity would predispose to isolated HSCR with incomplete penetrance, while homozygosity would result in more complex neurocristopathies associating HSCR and WS features. In addition, the present data give further support to the role of the endothelin-signalling pathway in the development of neural crest-derived enteric neurons.-
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Molecular Geneticsen_HK
dc.subject.meshHeterozygote-
dc.subject.meshHirschsprung Disease - genetics-
dc.subject.meshMutation-
dc.subject.meshPolymorphism, Single-Stranded Conformational-
dc.subject.meshReceptors, Endothelin - genetics-
dc.titleHeterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprungs diseaseen_HK
dc.typeArticleen_HK
dc.identifier.emailTam, PKH: paultam@hkucc.hku.hken_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1093/hmg/5.3.355-
dc.identifier.pmid8852660-
dc.identifier.scopuseid_2-s2.0-9044220230-
dc.identifier.hkuros23464en_HK
dc.identifier.volume5-
dc.identifier.issue3-
dc.identifier.spage355-
dc.identifier.epage357-
dc.publisher.placeUnited Kingdom-

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