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Article: Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

TitleIdentification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Authors
Issue Date1996
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 1996, v. 14 n. 3, p. 353-356 How to Cite?
AbstractHoloprosencephaly (HPE) is a genetically and phenotypically heterogenous disorder involving the development of forebrain and midface, with an incidence of 1:16,000 live born and 1:250 induced abortions. This disorder is associated with several distinct facies and phenotypic variability: in the most extreme cases, anophthalmia or cyclopia is evident along with a congenital absence of the mature nose. The less severe form features facial dysmorphia characterized by ocular hypertelorism, defects of the upper lip and/or nose, and absence of the olfactory nerves or corpus callosum. Several intermediate phenotypes involving both the brain and face have been described. One of the gene loci, HPE3, maps to the terminal band of chromosome 7. We have performed extensive physical mapping studies and established a critical interval for HPE3, and subsequently identified the sonic hedgehog (SHH) gene as the prime candidate for the disorder. SHH lies within 15-250 kilobases (kb) of chromosomal rearrangements associated with HPE, suggesting that a 'position effect' has an important role in the aetiology of HPE. As detailed in the accompanying report, this role for SHH is confirmed by the detection of point mutations in hereditary HPE patients.
Persistent Identifierhttp://hdl.handle.net/10722/44308
ISSN
2015 Impact Factor: 31.616
2015 SCImago Journal Rankings: 23.762
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorBelloni, Een_HK
dc.contributor.authorMuenke, Men_HK
dc.contributor.authorRoessler, Een_HK
dc.contributor.authorTraverso, Gen_HK
dc.contributor.authorSiegelBartelt, Jen_HK
dc.contributor.authorFrumkin, Aen_HK
dc.contributor.authorMitchell, HFen_HK
dc.contributor.authorDonisKeller, Hen_HK
dc.contributor.authorHelms, Cen_HK
dc.contributor.authorHing, AVen_HK
dc.contributor.authorHeng, HHen_HK
dc.contributor.authorKoop, Ben_HK
dc.contributor.authorMartindale, Den_HK
dc.contributor.authorRommens, JMen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorScherer, SWen_HK
dc.date.accessioned2007-09-12T03:51:07Z-
dc.date.available2007-09-12T03:51:07Z-
dc.date.issued1996en_HK
dc.identifier.citationNature Genetics, 1996, v. 14 n. 3, p. 353-356en_HK
dc.identifier.issn1061-4036en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44308-
dc.description.abstractHoloprosencephaly (HPE) is a genetically and phenotypically heterogenous disorder involving the development of forebrain and midface, with an incidence of 1:16,000 live born and 1:250 induced abortions. This disorder is associated with several distinct facies and phenotypic variability: in the most extreme cases, anophthalmia or cyclopia is evident along with a congenital absence of the mature nose. The less severe form features facial dysmorphia characterized by ocular hypertelorism, defects of the upper lip and/or nose, and absence of the olfactory nerves or corpus callosum. Several intermediate phenotypes involving both the brain and face have been described. One of the gene loci, HPE3, maps to the terminal band of chromosome 7. We have performed extensive physical mapping studies and established a critical interval for HPE3, and subsequently identified the sonic hedgehog (SHH) gene as the prime candidate for the disorder. SHH lies within 15-250 kilobases (kb) of chromosomal rearrangements associated with HPE, suggesting that a 'position effect' has an important role in the aetiology of HPE. As detailed in the accompanying report, this role for SHH is confirmed by the detection of point mutations in hereditary HPE patients.en_HK
dc.languageengen_HK
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.comen_HK
dc.relation.ispartofNature geneticsen_HK
dc.subject.meshChromosome mappingen_HK
dc.subject.meshHoloprosencephaly - geneticsen_HK
dc.subject.meshProteins - geneticsen_HK
dc.subject.meshTrans-activatorsen_HK
dc.subject.meshIn situ hybridization, fluorescenceen_HK
dc.titleIdentification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.en_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1038/ng1196-353en_HK
dc.identifier.pmid8896571-
dc.identifier.scopuseid_2-s2.0-16144368562en_HK
dc.identifier.volume14en_HK
dc.identifier.issue3en_HK
dc.identifier.spage353en_HK
dc.identifier.epage356en_HK
dc.identifier.isiWOS:A1996VQ14600036-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridBelloni, E=7003332359en_HK
dc.identifier.scopusauthoridMuenke, M=7005689389en_HK
dc.identifier.scopusauthoridRoessler, E=7005526597en_HK
dc.identifier.scopusauthoridTraverso, G=7006918319en_HK
dc.identifier.scopusauthoridSiegelBartelt, J=6701611584en_HK
dc.identifier.scopusauthoridFrumkin, A=7005393692en_HK
dc.identifier.scopusauthoridMitchell, HF=7202670436en_HK
dc.identifier.scopusauthoridDonisKeller, H=7005901606en_HK
dc.identifier.scopusauthoridHelms, C=7101832409en_HK
dc.identifier.scopusauthoridHing, AV=6701494909en_HK
dc.identifier.scopusauthoridHeng, HH=7005338076en_HK
dc.identifier.scopusauthoridKoop, B=7006161280en_HK
dc.identifier.scopusauthoridMartindale, D=7003588061en_HK
dc.identifier.scopusauthoridRommens, JM=7006884140en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridScherer, SW=35374654500en_HK
dc.identifier.citeulike4672231-

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