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Article: Genetic basis of Hirschsprung’s disease

TitleGenetic basis of Hirschsprung’s disease
Authors
KeywordsGenetics
Hirschsprungs
RET
Issue Date2009
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00383/index.htm
Citation
Pediatric Surgery International, 2009, v. 25 n. 7, p. 543-558 How to Cite?
AbstractHirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestive tract. Aganglionosis is attributed to a disorder of the enteric nervous system (ENS) whereby ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. HSCR is a complex disease that results from the interaction of several genes and manifests with low, sex-dependent penetrance and variability in the length of the aganglionic segment. The genetic complexity observed in HSCR can be conceptually understood in light of the molecular and cellular events that take place during the ENS development. DNA alterations in any of the genes involved in the ENS development may interfere with the colonization process, and represent a primary etiology for HSCR. This review will focus on the genes known to be involved in HSCR pathology, how they interact, and on how technology advances are being employed to uncover the pathological processes underlying this disease.
Persistent Identifierhttp://hdl.handle.net/10722/83196
ISSN
2015 Impact Factor: 1.01
2015 SCImago Journal Rankings: 0.409
ISI Accession Number ID
Funding AgencyGrant Number
Hong Kong Research Grants Council to MGBHKU 765407M
HKU 775907M
Funding Information:

The authors would like to acknowledge the research grants HKU 765407M and HKU 775907M from the Hong Kong Research Grants Council to MGB and PT, respectively.

References
Grants

 

DC FieldValueLanguage
dc.contributor.authorTam, PKHen_HK
dc.contributor.authorGarcia-Barcelo, MMen_HK
dc.date.accessioned2010-09-06T08:38:09Z-
dc.date.available2010-09-06T08:38:09Z-
dc.date.issued2009en_HK
dc.identifier.citationPediatric Surgery International, 2009, v. 25 n. 7, p. 543-558en_HK
dc.identifier.issn0179-0358en_HK
dc.identifier.urihttp://hdl.handle.net/10722/83196-
dc.description.abstractHirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestive tract. Aganglionosis is attributed to a disorder of the enteric nervous system (ENS) whereby ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. HSCR is a complex disease that results from the interaction of several genes and manifests with low, sex-dependent penetrance and variability in the length of the aganglionic segment. The genetic complexity observed in HSCR can be conceptually understood in light of the molecular and cellular events that take place during the ENS development. DNA alterations in any of the genes involved in the ENS development may interfere with the colonization process, and represent a primary etiology for HSCR. This review will focus on the genes known to be involved in HSCR pathology, how they interact, and on how technology advances are being employed to uncover the pathological processes underlying this disease.-
dc.languageengen_HK
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00383/index.htmen_HK
dc.relation.ispartofPediatric Surgery Internationalen_HK
dc.subjectGenetics-
dc.subjectHirschsprungs-
dc.subjectRET-
dc.titleGenetic basis of Hirschsprung’s diseaseen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0179-0358&volume=25&issue=7&spage=543&epage=558&date=2009&atitle=Genetic+basis+of+Hrischsprung%27s+diseaseen_HK
dc.identifier.emailTam, PKH: paultam@hkucc.hku.hken_HK
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hkucc.hku.hken_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.identifier.authorityGarcia-Barcelo, MM=rp00445en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/s00383-009-2402-2-
dc.identifier.pmid19521704-
dc.identifier.scopuseid_2-s2.0-67650710799-
dc.identifier.hkuros158462en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-67650710799&selection=ref&src=s&origin=recordpage-
dc.identifier.isiWOS:000267592800001-
dc.relation.projectFunctional evaluation of RET coding and non-coding sequence mutations in Hirschsprung's disease-
dc.relation.projectGenetic dissection of Hirschsprung's disease-

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