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Article: Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly

TitleMutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly
Authors
Issue Date1997
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 1997, v. 6 n. 11, p. 1847-1853 How to Cite?
AbstractHoloprosencephaly (HPE) is the most common brain anomaly in humans, involving abnormal formation and septation of the developing central nervous system. Among the heterogeneous causes of HPE, mutations in the Sonic Hedgehog (SHH) gene have been shown to result in an autosomal dominant form of the disorder. Here we describe a total of five different mutations in the processing domain encoded by exon 3 of SHH in familial and sporadic HPE. This is the first instance in humans where SHH mutations in the domain responsible for autocatalytic cleavage and cholesterol modification of the N-terminal signaling domain of the protein have been observed.
Persistent Identifierhttp://hdl.handle.net/10722/44332
ISSN
2014 Impact Factor: 6.393
2014 SCImago Journal Rankings: 3.760
Other Identifiers
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorRoessler, Een_HK
dc.contributor.authorBelloni, Een_HK
dc.contributor.authorGaudenz, Ken_HK
dc.contributor.authorVargas, Fen_HK
dc.contributor.authorScherer, SWen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorMuenke, Men_HK
dc.date.accessioned2007-09-12T03:51:34Z-
dc.date.available2007-09-12T03:51:34Z-
dc.date.issued1997en_HK
dc.identifierhttp://hmg.oxfordjournals.org/cgi/reprint/6/11/1847en_HK
dc.identifier.citationHuman Molecular Genetics, 1997, v. 6 n. 11, p. 1847-1853en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44332-
dc.description.abstractHoloprosencephaly (HPE) is the most common brain anomaly in humans, involving abnormal formation and septation of the developing central nervous system. Among the heterogeneous causes of HPE, mutations in the Sonic Hedgehog (SHH) gene have been shown to result in an autosomal dominant form of the disorder. Here we describe a total of five different mutations in the processing domain encoded by exon 3 of SHH in familial and sporadic HPE. This is the first instance in humans where SHH mutations in the domain responsible for autocatalytic cleavage and cholesterol modification of the N-terminal signaling domain of the protein have been observed.en_HK
dc.languageengen_HK
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Molecular Geneticsen_HK
dc.subject.meshHoloprosencephaly - etiology - geneticsen_HK
dc.subject.meshPoint mutationen_HK
dc.subject.meshProteins - geneticsen_HK
dc.subject.meshGlutamic acid - geneticsen_HK
dc.subject.meshAlanine - geneticsen_HK
dc.titleMutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephalyen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltexten_HK
dc.identifier.doi10.1093/hmg/6.11.1847en_HK
dc.identifier.pmid9302262en_HK
dc.identifier.scopuseid_2-s2.0-0030729082en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030729082&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume6en_HK
dc.identifier.issue11en_HK
dc.identifier.spage1847en_HK
dc.identifier.epage1853en_HK
dc.identifier.isiWOS:A1997YB59000010-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridRoessler, E=7005526597en_HK
dc.identifier.scopusauthoridBelloni, E=7003332359en_HK
dc.identifier.scopusauthoridGaudenz, K=6602481296en_HK
dc.identifier.scopusauthoridVargas, F=7201401036en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridMuenke, M=7005689389en_HK

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