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Article: Answering a century old riddle: brachydactyly type A1

TitleAnswering a century old riddle: brachydactyly type A1
Authors
KeywordsAnimals
Chromosomes, Human, Pair 2/*genetics
DNA Mutational Analysis
Fingers/abnormalities
Hand Deformities, Congenital/*genetics/pathology
Hedgehog Proteins
Humans
Phenotype
Protein Structure, Tertiary
Signal Transduction/physiology
Trans-Activators/genetics
Issue Date2004
Citation
Cell Research, 2004, v. 14 n. 3, p. 179-187 How to Cite?
AbstractIn 1903, Farabee analyzed the heredity of the human digital malformation, brachydactyly, the first recorded disorder of the autosomal dominant Mendelian trait. In 1951, Bell classified this type of brachydactyly as type A1 (BDA1). Over 100 cases from different ethnic groups have so far been reported. However, the real breakthrough in identifying the cause of BDA1 has only taken place in the last few years with the progress of the mapping and identification of one of the genes responsible for this disorder, thus providing an answer for a century old riddle. In this article, we attempt to review the current state of knowledge on the genetic features of BDA1 with its century-old history and signalling pathway of IHH, and also discuss genotype-phenotype correlation not only of BDA1, but also of all types of brachydactyly.
Persistent Identifierhttp://hdl.handle.net/10722/208439
ISSN
2015 Impact Factor: 14.812
2015 SCImago Journal Rankings: 4.805
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorGao, Ben_US
dc.contributor.authorHe, Len_US
dc.date.accessioned2015-03-11T03:00:59Z-
dc.date.available2015-03-11T03:00:59Z-
dc.date.issued2004en_US
dc.identifier.citationCell Research, 2004, v. 14 n. 3, p. 179-187en_US
dc.identifier.issn1001-0602en_US
dc.identifier.urihttp://hdl.handle.net/10722/208439-
dc.description.abstractIn 1903, Farabee analyzed the heredity of the human digital malformation, brachydactyly, the first recorded disorder of the autosomal dominant Mendelian trait. In 1951, Bell classified this type of brachydactyly as type A1 (BDA1). Over 100 cases from different ethnic groups have so far been reported. However, the real breakthrough in identifying the cause of BDA1 has only taken place in the last few years with the progress of the mapping and identification of one of the genes responsible for this disorder, thus providing an answer for a century old riddle. In this article, we attempt to review the current state of knowledge on the genetic features of BDA1 with its century-old history and signalling pathway of IHH, and also discuss genotype-phenotype correlation not only of BDA1, but also of all types of brachydactyly.en_US
dc.languageengen_US
dc.relation.ispartofCell Researchen_US
dc.subjectAnimalsen_US
dc.subjectChromosomes, Human, Pair 2/*geneticsen_US
dc.subjectDNA Mutational Analysisen_US
dc.subjectFingers/abnormalitiesen_US
dc.subjectHand Deformities, Congenital/*genetics/pathologyen_US
dc.subjectHedgehog Proteinsen_US
dc.subjectHumansen_US
dc.subjectPhenotypeen_US
dc.subjectProtein Structure, Tertiaryen_US
dc.subjectSignal Transduction/physiologyen_US
dc.subjectTrans-Activators/geneticsen_US
dc.titleAnswering a century old riddle: brachydactyly type A1en_US
dc.typeArticleen_US
dc.identifier.emailGao, B: gaobo@hku.hken_US
dc.identifier.authorityGao, B=rp02012en_US
dc.identifier.doi10.1038/sj.cr.7290218en_US
dc.identifier.pmid15225411-
dc.identifier.scopuseid_2-s2.0-16644398750-
dc.identifier.volume14en_US
dc.identifier.issue3en_US
dc.identifier.spage179en_US
dc.identifier.epage187en_US
dc.identifier.isiWOS:000222454200001-

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