Article: Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

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TitleAnalysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
AuthorsVargas, FR3 9
Roessler, E3 9
Gaudenz, K9
Belloni, E16
Whitehead, AS1
Kirke, PN7
Mills, JL8
Hooper, G13
Stevenson, RE11
Cordeiro, I6
Correia, P2
Felix, T12
Gereige, R4
Cunningham, ML14
Canún, S10
Antonarakis, SE15
Strachan, T5
Tsui, LC16
Scherer, SW16
Muenke, M3 9
Issue Date1998
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
CitationHuman Genetics, 1998, v. 102 n. 4, p. 387-392 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s004390050709
AbstractThe human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories.
ISSN0340-6717
2011 Impact Factor: 5.069
2011 SCImago Journal Rankings: 0.328
DOIhttp://dx.doi.org/10.1007/s004390050709
ISI Accession Number IDWOS:000073551000002
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorVargas, FR
dc.contributor.authorRoessler, E
dc.contributor.authorGaudenz, K
dc.contributor.authorBelloni, E
dc.contributor.authorWhitehead, AS
dc.contributor.authorKirke, PN
dc.contributor.authorMills, JL
dc.contributor.authorHooper, G
dc.contributor.authorStevenson, RE
dc.contributor.authorCordeiro, I
dc.contributor.authorCorreia, P
dc.contributor.authorFelix, T
dc.contributor.authorGereige, R
dc.contributor.authorCunningham, ML
dc.contributor.authorCanún, S
dc.contributor.authorAntonarakis, SE
dc.contributor.authorStrachan, T
dc.contributor.authorTsui, LC
dc.contributor.authorScherer, SW
dc.contributor.authorMuenke, M
dc.date.accessioned2007-09-12T03:51:42Z
dc.date.available2007-09-12T03:51:42Z
dc.date.issued1998
dc.description.abstractThe human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter region of the SHH gene, including 2 kb 5' of the transcriptional start site has been screened for mutations in families with autosomal dominant sacral agenesis and autosomal dominant triphalangeal thumb, two conditions previously known to be linked to 7q36. We have also studied the SHH gene in five families with mirror polydactyly associated with tibial hemimelia and in 51 unrelated patients with neural tube defects. Except for two sequence variants in exon 3, no mutations were found in these disease categories.
dc.description.natureabstract
dc.identifier.citationHuman Genetics, 1998, v. 102 n. 4, p. 387-392 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s004390050709
dc.identifier.doihttp://dx.doi.org/10.1007/s004390050709
dc.identifier.epage392
dc.identifier.isiWOS:000073551000002
dc.identifier.issn0340-6717
2011 Impact Factor: 5.069
2011 SCImago Journal Rankings: 0.328
dc.identifier.issue4
dc.identifier.pmid9600232
dc.identifier.scopuseid_2-s2.0-0031899912
dc.identifier.spage387
dc.identifier.urihttp://hdl.handle.net/10722/44339
dc.identifier.volume102
dc.languageeng
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
dc.publisher.placeGermany
dc.relation.ispartofHuman Genetics
dc.relation.referencesReferences in Scopus
dc.rightsThe original publication is available at www.springerlink.com
dc.subject.meshAbnormalities, multiple - genetics
dc.subject.meshPolydactyly - genetics
dc.subject.meshPromoter regions (genetics)
dc.subject.meshProteins - analysis - genetics
dc.subject.meshThumb - abnormalities
dc.titleAnalysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly
dc.typeArticle
Author Affiliations
  1. Trinity College Dublin
  2. Fundacao Oswaldo Cruz
  3. National Human Genome Research Institute
  4. All Children's Hospital St. Petersburg
  5. Newcastle University, United Kingdom
  6. Santa Maria Hospital, Lisbon
  7. Health Research Board Ireland
  8. National Institute of Child Health and Human Development
  9. University of Pennsylvania, School of Medicine
  10. Hospital General Dr. Manual Gea Gonalez, Mexico City
  11. Greenwood Genetics Center
  12. Hospital de Clinicas de Porto Alegre
  13. Princess Margaret Rose Orthopaedic Hospital
  14. University of Washington Seattle
  15. Université de Genève Faculté de Médecine
  16. Hospital for Sick Children, Toronto