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- Publisher Website: 10.1038/sj.cr.7290218
- Scopus: eid_2-s2.0-16644398750
- PMID: 15225411
- WOS: WOS:000222454200001
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Article: Answering a century old riddle: brachydactyly type A1
Title | Answering a century old riddle: brachydactyly type A1 |
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Authors | |
Keywords | Animals 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 Date | 2004 |
Citation | Cell Research, 2004, v. 14 n. 3, p. 179-187 How to Cite? |
Abstract | In 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 Identifier | http://hdl.handle.net/10722/208439 |
ISSN | 2023 Impact Factor: 28.1 2023 SCImago Journal Rankings: 9.506 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Gao, B | en_US |
dc.contributor.author | He, L | en_US |
dc.date.accessioned | 2015-03-11T03:00:59Z | - |
dc.date.available | 2015-03-11T03:00:59Z | - |
dc.date.issued | 2004 | en_US |
dc.identifier.citation | Cell Research, 2004, v. 14 n. 3, p. 179-187 | en_US |
dc.identifier.issn | 1001-0602 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/208439 | - |
dc.description.abstract | In 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.language | eng | en_US |
dc.relation.ispartof | Cell Research | en_US |
dc.subject | Animals | en_US |
dc.subject | Chromosomes, Human, Pair 2/*genetics | en_US |
dc.subject | DNA Mutational Analysis | en_US |
dc.subject | Fingers/abnormalities | en_US |
dc.subject | Hand Deformities, Congenital/*genetics/pathology | en_US |
dc.subject | Hedgehog Proteins | en_US |
dc.subject | Humans | en_US |
dc.subject | Phenotype | en_US |
dc.subject | Protein Structure, Tertiary | en_US |
dc.subject | Signal Transduction/physiology | en_US |
dc.subject | Trans-Activators/genetics | en_US |
dc.title | Answering a century old riddle: brachydactyly type A1 | en_US |
dc.type | Article | en_US |
dc.identifier.email | Gao, B: gaobo@hku.hk | en_US |
dc.identifier.authority | Gao, B=rp02012 | en_US |
dc.description.nature | link_to_OA_fulltext | - |
dc.identifier.doi | 10.1038/sj.cr.7290218 | en_US |
dc.identifier.pmid | 15225411 | - |
dc.identifier.scopus | eid_2-s2.0-16644398750 | - |
dc.identifier.volume | 14 | en_US |
dc.identifier.issue | 3 | en_US |
dc.identifier.spage | 179 | en_US |
dc.identifier.epage | 187 | en_US |
dc.identifier.isi | WOS:000222454200001 | - |
dc.identifier.issnl | 1001-0602 | - |