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Conference Paper: Generation of patient-specific iPSCs for Hirschsprung's disease modelling

TitleGeneration of patient-specific iPSCs for Hirschsprung's disease modelling
Authors
Issue Date2011
Citation
The 2011 Meeting of the Days of Molecular Medicine (DMM), Hong Kong, 10-12 November 2011. How to Cite?
AbstractHirschsprung’s (HSCR) disease is a congenital disorder of the colon in which certain nerve cells are absent due to incomplete colonization of bowel with enteric neural crest (NC) cells, causing chronic constipation. RET gene encodes for a tyrosine kinase receptor and is highly implicated in the neural crest development. Mutations or genetic variants in RET have accounted for most of the HSCR cases. In particular, a single nucleotide polymorphisms (SNP, rs2435362) residing in the intron one of RET gene are predominantly found in HSCR, which may cause a reduced c-RET expression in patient. In this study, a HSCR patient carrying a risk allele T in rs2435362 ...
DescriptionDMM 2011 entitled: Re-engineering Regenerative Medicine
Local Scholarship Awardees - Poster Sessions: no. 6
Persistent Identifierhttp://hdl.handle.net/10722/144694

 

DC FieldValueLanguage
dc.contributor.authorYung, JSYen_US
dc.contributor.authorChow, KHMen_US
dc.contributor.authorTse, HFen_US
dc.contributor.authorTam, PKHen_US
dc.contributor.authorNgan, ESWen_US
dc.date.accessioned2012-02-03T06:18:41Z-
dc.date.available2012-02-03T06:18:41Z-
dc.date.issued2011en_US
dc.identifier.citationThe 2011 Meeting of the Days of Molecular Medicine (DMM), Hong Kong, 10-12 November 2011.en_US
dc.identifier.urihttp://hdl.handle.net/10722/144694-
dc.descriptionDMM 2011 entitled: Re-engineering Regenerative Medicine-
dc.descriptionLocal Scholarship Awardees - Poster Sessions: no. 6-
dc.description.abstractHirschsprung’s (HSCR) disease is a congenital disorder of the colon in which certain nerve cells are absent due to incomplete colonization of bowel with enteric neural crest (NC) cells, causing chronic constipation. RET gene encodes for a tyrosine kinase receptor and is highly implicated in the neural crest development. Mutations or genetic variants in RET have accounted for most of the HSCR cases. In particular, a single nucleotide polymorphisms (SNP, rs2435362) residing in the intron one of RET gene are predominantly found in HSCR, which may cause a reduced c-RET expression in patient. In this study, a HSCR patient carrying a risk allele T in rs2435362 ...-
dc.languageengen_US
dc.relation.ispartofDay of Molecular Medicine, DMM 2011en_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleGeneration of patient-specific iPSCs for Hirschsprung's disease modellingen_US
dc.typeConference_Paperen_US
dc.identifier.emailChow, KHM: khmchow@hku.hken_US
dc.identifier.emailTse, HF: hftse@hkucc.hku.hken_US
dc.identifier.emailTam, PKH: paultam@hku.hken_US
dc.identifier.emailNgan, ESW: engan@hku.hken_US
dc.identifier.authorityTse, HF=rp00428en_US
dc.identifier.authorityTam, PKH=rp00060en_US
dc.identifier.authorityNgan, ESW=rp00422en_US
dc.description.naturepostprint-
dc.identifier.hkuros198469en_US

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