Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
نویسندگان
چکیده
منابع مشابه
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
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 recep...
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Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities. They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMPR1B) and the BMP antagonist NOGGIN, respectively. We expressed the mutant proteins in limb bud mi...
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TrkC, a member of the tropomyosin-related kinase (Trk) family of neurotrophin receptors, is implicated in the growth and survival of human cancer tissues. TrkC is also a potent oncoprotein expressed in tumors derived from multiple cell lineages, and functions as an active protein tyrosine kinase by neurotrophin-3 (NT-3). We previously reported that TrkC plays an essential role in tumor growth a...
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A wide range of mutations in the type II receptor for bone morphogenetic protein (BMPR-II) have been shown to underlie primary pulmonary hypertension. To determine the mechanism of altered BMPR-II function, we employed transient transfection studies in cell lines and primary cultures of pulmonary vascular smooth muscle cells using green fluorescent protein (GFP)-tagged wild-type and mutant BMPR...
متن کاملLinkage mapping of the bovine bone morphogenetic protein receptor-1B (BMPR1B ) to chromosome 6.
Source/description of primers: A mutation in the ovine bonemorphogenetic protein receptor-1B (BMPR1B) gene is associated with an increased ovulation rate phenotype in Booroola Merino sheep. Therefore, BMPR1B is considered as a candidate gene for ovulation rate in cattle. A cDNA was obtained for porcine BMPR1B and the gene was mapped in the porcine genome. Comparison of the ovine and porcine BMP...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 2003
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.2133476100