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Article: Is there a role for the IHH gene in Hirschsprung's disease?

TitleIs there a role for the IHH gene in Hirschsprung's disease?
Authors
KeywordsDevelopment
Enteric nervous system
Hirschsprung
Indian hedgehog
Single nucleotide polymorphisms
Issue Date2003
PublisherWiley-Blackwell. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=1350-1925&site=1
Citation
Neurogastroenterology And Motility, 2003, v. 15 n. 6, p. 663-668 How to Cite?
AbstractHirschsprung disease (HSCR) is characterized by the absence of ganglion cells along a variable length of the intestine. HSCR has a complex genetic aetiology with 50% of the patients unexplained by mutations in the major HSCR genes. The Ihh gene is involved in the development of the enteric nervous system (ENS) and Ihh mutant mice present with a phenotype reminiscent of HSCR. The requirement of Ihh signalling for the proper development of the ENS, together with the evidence presented by the Ihh murine model, prompted us to investigate the involvement of the human IHH gene in HSCR. Sequence analysis revealed seven single nucleotide polymorphisms, six of which were new. Allele and haplotype frequencies were compared between cases and controls, and, among the cases, between genders, between different phenotypes, and between patients with different mutation status in the main HSCR genes. Despite the involvement of IHH in the development of the ENS, IHH is not a major gene in HSCR. Nevertheless, as the manifestation of the HSCR phenotype is genetic background dependent, polymorphic loci should be tested simultaneously to characterize gene-gene interaction. The involvement of IHH in other intestinal anomalies should be investigated.
Persistent Identifierhttp://hdl.handle.net/10722/68234
ISSN
2015 Impact Factor: 3.31
2015 SCImago Journal Rankings: 1.722
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorGarciaBarceló, MMen_HK
dc.contributor.authorLee, WSen_HK
dc.contributor.authorSham, MHen_HK
dc.contributor.authorLui, VCHen_HK
dc.contributor.authorTam, PKHen_HK
dc.date.accessioned2010-09-06T06:02:38Z-
dc.date.available2010-09-06T06:02:38Z-
dc.date.issued2003en_HK
dc.identifier.citationNeurogastroenterology And Motility, 2003, v. 15 n. 6, p. 663-668en_HK
dc.identifier.issn1350-1925en_HK
dc.identifier.urihttp://hdl.handle.net/10722/68234-
dc.description.abstractHirschsprung disease (HSCR) is characterized by the absence of ganglion cells along a variable length of the intestine. HSCR has a complex genetic aetiology with 50% of the patients unexplained by mutations in the major HSCR genes. The Ihh gene is involved in the development of the enteric nervous system (ENS) and Ihh mutant mice present with a phenotype reminiscent of HSCR. The requirement of Ihh signalling for the proper development of the ENS, together with the evidence presented by the Ihh murine model, prompted us to investigate the involvement of the human IHH gene in HSCR. Sequence analysis revealed seven single nucleotide polymorphisms, six of which were new. Allele and haplotype frequencies were compared between cases and controls, and, among the cases, between genders, between different phenotypes, and between patients with different mutation status in the main HSCR genes. Despite the involvement of IHH in the development of the ENS, IHH is not a major gene in HSCR. Nevertheless, as the manifestation of the HSCR phenotype is genetic background dependent, polymorphic loci should be tested simultaneously to characterize gene-gene interaction. The involvement of IHH in other intestinal anomalies should be investigated.en_HK
dc.languageengen_HK
dc.publisherWiley-Blackwell. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=1350-1925&site=1en_HK
dc.relation.ispartofNeurogastroenterology and Motilityen_HK
dc.rightsNeurogastroenterology and Motility. Copyright © Blackwell Publishing Ltd.en_HK
dc.subjectDevelopmenten_HK
dc.subjectEnteric nervous systemen_HK
dc.subjectHirschsprungen_HK
dc.subjectIndian hedgehogen_HK
dc.subjectSingle nucleotide polymorphismsen_HK
dc.subject.meshAllelesen_HK
dc.subject.meshChi-Square Distributionen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGene Frequency - geneticsen_HK
dc.subject.meshHedgehog Proteinsen_HK
dc.subject.meshHirschsprung Disease - geneticsen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshPolymorphism, Genetic - geneticsen_HK
dc.subject.meshSequence Analysis, DNA - methodsen_HK
dc.subject.meshTrans-Activators - genetics - physiologyen_HK
dc.titleIs there a role for the IHH gene in Hirschsprung's disease?en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1350-1925&volume=15&issue=6&spage=663&epage=668&date=2003&atitle=Is+there+a+role+for+the+IHH+gene+in+Hirschsprung%27s+disease?en_HK
dc.identifier.emailGarciaBarceló, MM: mmgarcia@hkucc.hku.hken_HK
dc.identifier.emailSham, MH: mhsham@hkucc.hku.hken_HK
dc.identifier.emailLui, VCH: vchlui@hkucc.hku.hken_HK
dc.identifier.emailTam, PKH: paultam@hkucc.hku.hken_HK
dc.identifier.authorityGarciaBarceló, MM=rp00445en_HK
dc.identifier.authoritySham, MH=rp00380en_HK
dc.identifier.authorityLui, VCH=rp00363en_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1046/j.1350-1925.2003.00447.xen_HK
dc.identifier.pmid14651602-
dc.identifier.scopuseid_2-s2.0-0347595565en_HK
dc.identifier.hkuros87770en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0347595565&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume15en_HK
dc.identifier.issue6en_HK
dc.identifier.spage663en_HK
dc.identifier.epage668en_HK
dc.identifier.isiWOS:000186911600008-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridGarciaBarceló, MM=6701767303en_HK
dc.identifier.scopusauthoridLee, WS=7407084160en_HK
dc.identifier.scopusauthoridSham, MH=7003729109en_HK
dc.identifier.scopusauthoridLui, VCH=7004231344en_HK
dc.identifier.scopusauthoridTam, PKH=7202539421en_HK

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