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- Publisher Website: 10.1007/s00383-009-2402-2
- Scopus: eid_2-s2.0-67650710799
- PMID: 19521704
- WOS: WOS:000267592800001
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Article: Genetic basis of Hirschsprung’s disease
| Title | Genetic basis of Hirschsprung’s disease | ||||
|---|---|---|---|---|---|
| Authors | |||||
| Keywords | Genetics Hirschsprungs RET | ||||
| Issue Date | 2009 | ||||
| Publisher | Springer 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? | ||||
| Abstract | Hirschsprung'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 Identifier | http://hdl.handle.net/10722/83196 | ||||
| ISSN | 2023 Impact Factor: 1.5 2023 SCImago Journal Rankings: 0.548 | ||||
| ISI Accession Number ID |
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 Field | Value | Language |
|---|---|---|
| dc.contributor.author | Tam, PKH | en_HK |
| dc.contributor.author | Garcia-Barcelo, MM | en_HK |
| dc.date.accessioned | 2010-09-06T08:38:09Z | - |
| dc.date.available | 2010-09-06T08:38:09Z | - |
| dc.date.issued | 2009 | en_HK |
| dc.identifier.citation | Pediatric Surgery International, 2009, v. 25 n. 7, p. 543-558 | en_HK |
| dc.identifier.issn | 0179-0358 | en_HK |
| dc.identifier.uri | http://hdl.handle.net/10722/83196 | - |
| dc.description.abstract | Hirschsprung'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.language | eng | en_HK |
| dc.publisher | Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00383/index.htm | en_HK |
| dc.relation.ispartof | Pediatric Surgery International | en_HK |
| dc.subject | Genetics | - |
| dc.subject | Hirschsprungs | - |
| dc.subject | RET | - |
| dc.title | Genetic basis of Hirschsprung’s disease | en_HK |
| dc.type | Article | en_HK |
| dc.identifier.openurl | http://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+disease | en_HK |
| dc.identifier.email | Tam, PKH: paultam@hkucc.hku.hk | en_HK |
| dc.identifier.email | Garcia-Barcelo, MM: mmgarcia@hkucc.hku.hk | en_HK |
| dc.identifier.authority | Tam, PKH=rp00060 | en_HK |
| dc.identifier.authority | Garcia-Barcelo, MM=rp00445 | en_HK |
| dc.description.nature | link_to_subscribed_fulltext | - |
| dc.identifier.doi | 10.1007/s00383-009-2402-2 | - |
| dc.identifier.pmid | 19521704 | - |
| dc.identifier.scopus | eid_2-s2.0-67650710799 | - |
| dc.identifier.hkuros | 158462 | en_HK |
| dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-67650710799&selection=ref&src=s&origin=recordpage | - |
| dc.identifier.isi | WOS:000267592800001 | - |
| dc.relation.project | Functional evaluation of RET coding and non-coding sequence mutations in Hirschsprung's disease | - |
| dc.relation.project | Genetic dissection of Hirschsprung's disease | - |
| dc.identifier.issnl | 0179-0358 | - |