| pubmed-article:14523231 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:14523231 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:14523231 | lifeskim:mentions | umls-concept:C0289417 | lld:lifeskim |
| pubmed-article:14523231 | lifeskim:mentions | umls-concept:C1832702 | lld:lifeskim |
| pubmed-article:14523231 | lifeskim:mentions | umls-concept:C1524003 | lld:lifeskim |
| pubmed-article:14523231 | pubmed:issue | 21 | lld:pubmed |
| pubmed-article:14523231 | pubmed:dateCreated | 2003-10-15 | lld:pubmed |
| pubmed-article:14523231 | pubmed:abstractText | Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the first and second toes. We performed linkage analysis in two unrelated German families and mapped a locus for BD type A2 to 4q21-q25. This interval includes the gene bone morphogenetic protein receptor 1B (BMPR1B), a type I transmembrane serinethreonine kinase. In one family, we identified a T599 --> A mutation changing an isoleucine into a lysine residue (I200K) within the glycine/serine (GS) domain of BMPR1B, a region involved in phosphorylation of the receptor. In the other family we identified a C1456 --> T mutation leading to an arginine-to-tryptophan amino acid change (R486W) in a highly conserved region C-terminal of the BMPR1B kinase domain. An in vitro kinase assay showed that the I200K mutation is kinase-deficient, whereas the R486W mutation has normal kinase activity, indicating a different pathogenic mechanism. Functional analyses with a micromass culture system revealed a strong inhibition of chondrogenesis by both mutant receptors. Overexpression of mutant chBmpR1b in vivo in chick embryos by using a retroviral system resulted either in a BD phenotype with shortening and/or missing phalanges similar to the human phenotype or in severe hypoplasia of the entire limb. These findings imply that both mutations identified in human BMPR1B affect cartilage formation in a dominant-negative manner. | lld:pubmed |
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| pubmed-article:14523231 | pubmed:language | eng | lld:pubmed |
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| pubmed-article:14523231 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:14523231 | pubmed:month | Oct | lld:pubmed |
| pubmed-article:14523231 | pubmed:issn | 0027-8424 | lld:pubmed |
| pubmed-article:14523231 | pubmed:author | pubmed-author:KnausPetraP | lld:pubmed |
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| pubmed-article:14523231 | pubmed:author | pubmed-author:SüringKatrinK | lld:pubmed |
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| pubmed-article:14523231 | pubmed:volume | 100 | lld:pubmed |
| pubmed-article:14523231 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:14523231 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:14523231 | pubmed:pagination | 12277-82 | lld:pubmed |
| pubmed-article:14523231 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
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| pubmed-article:14523231 | pubmed:year | 2003 | lld:pubmed |
| pubmed-article:14523231 | pubmed:articleTitle | Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. | lld:pubmed |
| pubmed-article:14523231 | pubmed:affiliation | Institut für Medizinische Genetik, Humboldt-Universität, Charité, Augustenburger Platz 1, 13353 Berlin, Germany. | lld:pubmed |
| pubmed-article:14523231 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:14523231 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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