File Download
 
Links for fulltext
(May Require Subscription)
 
Supplementary

Article: Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly
  • Basic View
  • Metadata View
  • XML View
TitleMutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly
 
AuthorsRoessler, E2 1
Belloni, E3
Gaudenz, K2
Vargas, F2 1
Scherer, SW3
Tsui, LC3
Muenke, M2 1
 
Issue Date1997
 
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
 
CitationHuman Molecular Genetics, 1997, v. 6 n. 11, p. 1847-1853 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/6.11.1847
 
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.
 
ISSN0964-6906
2013 Impact Factor: 6.677
 
Other Identifiershttp://hmg.oxfordjournals.org/cgi/reprint/6/11/1847
 
DOIhttp://dx.doi.org/10.1093/hmg/6.11.1847
 
ISI Accession Number IDWOS:A1997YB59000010
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorRoessler, E
 
dc.contributor.authorBelloni, E
 
dc.contributor.authorGaudenz, K
 
dc.contributor.authorVargas, F
 
dc.contributor.authorScherer, SW
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorMuenke, M
 
dc.date.accessioned2007-09-12T03:51:34Z
 
dc.date.available2007-09-12T03:51:34Z
 
dc.date.issued1997
 
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.
 
dc.description.naturelink_to_OA_fulltext
 
dc.identifier.citationHuman Molecular Genetics, 1997, v. 6 n. 11, p. 1847-1853 [How to Cite?]
DOI: http://dx.doi.org/10.1093/hmg/6.11.1847
 
dc.identifier.doihttp://dx.doi.org/10.1093/hmg/6.11.1847
 
dc.identifier.epage1853
 
dc.identifier.isiWOS:A1997YB59000010
 
dc.identifier.issn0964-6906
2013 Impact Factor: 6.677
 
dc.identifier.issue11
 
dc.identifierhttp://hmg.oxfordjournals.org/cgi/reprint/6/11/1847
 
dc.identifier.pmid9302262
 
dc.identifier.scopuseid_2-s2.0-0030729082
 
dc.identifier.spage1847
 
dc.identifier.urihttp://hdl.handle.net/10722/44332
 
dc.identifier.volume6
 
dc.languageeng
 
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
 
dc.publisher.placeUnited Kingdom
 
dc.relation.ispartofHuman Molecular Genetics
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshHoloprosencephaly - etiology - genetics
 
dc.subject.meshPoint mutation
 
dc.subject.meshProteins - genetics
 
dc.subject.meshGlutamic acid - genetics
 
dc.subject.meshAlanine - genetics
 
dc.titleMutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly
 
dc.typeArticle
 
<?xml encoding="utf-8" version="1.0"?>
<item><contributor.author>Roessler, E</contributor.author>
<contributor.author>Belloni, E</contributor.author>
<contributor.author>Gaudenz, K</contributor.author>
<contributor.author>Vargas, F</contributor.author>
<contributor.author>Scherer, SW</contributor.author>
<contributor.author>Tsui, LC</contributor.author>
<contributor.author>Muenke, M</contributor.author>
<date.accessioned>2007-09-12T03:51:34Z</date.accessioned>
<date.available>2007-09-12T03:51:34Z</date.available>
<date.issued>1997</date.issued>
<identifier>http://hmg.oxfordjournals.org/cgi/reprint/6/11/1847</identifier>
<identifier.citation>Human Molecular Genetics, 1997, v. 6 n. 11, p. 1847-1853</identifier.citation>
<identifier.issn>0964-6906</identifier.issn>
<identifier.uri>http://hdl.handle.net/10722/44332</identifier.uri>
<description.abstract>Holoprosencephaly (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.</description.abstract>
<language>eng</language>
<publisher>Oxford University Press. The Journal&apos;s web site is located at http://hmg.oxfordjournals.org/</publisher>
<relation.ispartof>Human Molecular Genetics</relation.ispartof>
<subject.mesh>Holoprosencephaly - etiology - genetics</subject.mesh>
<subject.mesh>Point mutation</subject.mesh>
<subject.mesh>Proteins - genetics</subject.mesh>
<subject.mesh>Glutamic acid - genetics</subject.mesh>
<subject.mesh>Alanine - genetics</subject.mesh>
<title>Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly</title>
<type>Article</type>
<description.nature>link_to_OA_fulltext</description.nature>
<identifier.doi>10.1093/hmg/6.11.1847</identifier.doi>
<identifier.pmid>9302262</identifier.pmid>
<identifier.scopus>eid_2-s2.0-0030729082</identifier.scopus>
<relation.references>http://www.scopus.com/mlt/select.url?eid=2-s2.0-0030729082&amp;selection=ref&amp;src=s&amp;origin=recordpage</relation.references>
<identifier.volume>6</identifier.volume>
<identifier.issue>11</identifier.issue>
<identifier.spage>1847</identifier.spage>
<identifier.epage>1853</identifier.epage>
<identifier.isi>WOS:A1997YB59000010</identifier.isi>
<publisher.place>United Kingdom</publisher.place>
<bitstream.url>http://hub.hku.hk/bitstream/10722/44332/1/re01.htm</bitstream.url>
</item>
Author Affiliations
  1. National Human Genome Research Institute
  2. The Children's Hospital of Philadelphia
  3. Hospital for Sick Children University of Toronto