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Article: Mutational analysis of SHH and GLI3 in anorectal malformations

TitleMutational analysis of SHH and GLI3 in anorectal malformations
Authors
KeywordsAnorectal malformations
GLI3
SHH
Issue Date2008
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/102526943
Citation
Birth Defects Research Part A - Clinical And Molecular Teratology, 2008, v. 82 n. 9, p. 644-648 How to Cite?
AbstractBACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most common pediatric surgical problems and carry a significant chronic morbidity. METHODS: Direct sequencing was used to screen 88 anorectal malformations patients for mutations and polymorphisms in SHH and GLI3. These genes were chosen according to the phenotype presented by mutant mice and their expression patterns. RESULTS: We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, A1039A) and four SHH mutation/variants (IVS1-49C>T, IVS2+111A>C, L214L, G290D). CONCLUSIONS: These variants are not over-represented in the healthy population and most are predicted to be benign. This study conveys the problematic assessment of the pathogenic role in disease of rare point mutations and variants. © 2008 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/59691
ISSN
2014 Impact Factor: 2.089
2014 SCImago Journal Rankings: 1.076
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorGarciaBarceló, MMen_HK
dc.contributor.authorLui, VCHen_HK
dc.contributor.authorMiao, Xen_HK
dc.contributor.authorSo, MTen_HK
dc.contributor.authorLeon, TYYen_HK
dc.contributor.authorYuan, ZWen_HK
dc.contributor.authorLi, Len_HK
dc.contributor.authorLiu, Len_HK
dc.contributor.authorWang, Ben_HK
dc.contributor.authorSun, XBen_HK
dc.contributor.authorHuang, LMen_HK
dc.contributor.authorTou, JFen_HK
dc.contributor.authorNgan, ESWen_HK
dc.contributor.authorCherny, SSen_HK
dc.contributor.authorChan, KWen_HK
dc.contributor.authorLee, KHen_HK
dc.contributor.authorWang, Wen_HK
dc.contributor.authorWong, KKYen_HK
dc.contributor.authorTam, PKHen_HK
dc.date.accessioned2010-05-31T03:55:28Z-
dc.date.available2010-05-31T03:55:28Z-
dc.date.issued2008en_HK
dc.identifier.citationBirth Defects Research Part A - Clinical And Molecular Teratology, 2008, v. 82 n. 9, p. 644-648en_HK
dc.identifier.issn1542-0752en_HK
dc.identifier.urihttp://hdl.handle.net/10722/59691-
dc.description.abstractBACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most common pediatric surgical problems and carry a significant chronic morbidity. METHODS: Direct sequencing was used to screen 88 anorectal malformations patients for mutations and polymorphisms in SHH and GLI3. These genes were chosen according to the phenotype presented by mutant mice and their expression patterns. RESULTS: We report on 10 GLI3 variants (IVS3+141C>G, T183A, IVS4+124T>C, IVS7+17G>A, IVS8+1 G>C, N503N, P941P, P998L, A1005A, A1039A) and four SHH mutation/variants (IVS1-49C>T, IVS2+111A>C, L214L, G290D). CONCLUSIONS: These variants are not over-represented in the healthy population and most are predicted to be benign. This study conveys the problematic assessment of the pathogenic role in disease of rare point mutations and variants. © 2008 Wiley-Liss, Inc.en_HK
dc.languageengen_HK
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/102526943en_HK
dc.relation.ispartofBirth Defects Research Part A - Clinical and Molecular Teratologyen_HK
dc.subjectAnorectal malformationsen_HK
dc.subjectGLI3en_HK
dc.subjectSHHen_HK
dc.titleMutational analysis of SHH and GLI3 in anorectal malformationsen_HK
dc.typeArticleen_HK
dc.identifier.emailGarciaBarceló, MM: mmgarcia@hkucc.hku.hken_HK
dc.identifier.emailLui, VCH: vchlui@hkucc.hku.hken_HK
dc.identifier.emailNgan, ESW: engan@hkucc.hku.hken_HK
dc.identifier.emailCherny, SS: cherny@hku.hken_HK
dc.identifier.emailWong, KKY: kkywong@hkucc.hku.hken_HK
dc.identifier.emailTam, PKH: paultam@hkucc.hku.hken_HK
dc.identifier.authorityGarciaBarceló, MM=rp00445en_HK
dc.identifier.authorityLui, VCH=rp00363en_HK
dc.identifier.authorityNgan, ESW=rp00422en_HK
dc.identifier.authorityCherny, SS=rp00232en_HK
dc.identifier.authorityWong, KKY=rp01392en_HK
dc.identifier.authorityTam, PKH=rp00060en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/bdra.20482en_HK
dc.identifier.pmid18655123-
dc.identifier.scopuseid_2-s2.0-52249090865en_HK
dc.identifier.hkuros152819en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-52249090865&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume82en_HK
dc.identifier.issue9en_HK
dc.identifier.spage644en_HK
dc.identifier.epage648en_HK
dc.identifier.eissn1542-0760-
dc.identifier.isiWOS:000259713600006-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridGarciaBarceló, MM=6701767303en_HK
dc.identifier.scopusauthoridLui, VCH=7004231344en_HK
dc.identifier.scopusauthoridMiao, X=7102585391en_HK
dc.identifier.scopusauthoridSo, MT=8748542200en_HK
dc.identifier.scopusauthoridLeon, TYY=10641704600en_HK
dc.identifier.scopusauthoridYuan, ZW=8672008500en_HK
dc.identifier.scopusauthoridLi, L=7501448457en_HK
dc.identifier.scopusauthoridLiu, L=15755841400en_HK
dc.identifier.scopusauthoridWang, B=8922803000en_HK
dc.identifier.scopusauthoridSun, XB=16833911300en_HK
dc.identifier.scopusauthoridHuang, LM=12647222900en_HK
dc.identifier.scopusauthoridTou, JF=7006759358en_HK
dc.identifier.scopusauthoridNgan, ESW=22234827500en_HK
dc.identifier.scopusauthoridCherny, SS=7004670001en_HK
dc.identifier.scopusauthoridChan, KW=15030099800en_HK
dc.identifier.scopusauthoridLee, KH=8965968100en_HK
dc.identifier.scopusauthoridWang, W=24833886700en_HK
dc.identifier.scopusauthoridWong, KKY=24438686400en_HK
dc.identifier.scopusauthoridTam, PKH=7202539421en_HK

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