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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

BMPR1B  -  bone morphogenetic protein receptor, type IB

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High impact information on BMPR1B

  • A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2 [1].
  • To investigate the consequences of the BMPR1B mutations on the intracellular signal transduction, we used stably transfected C2C12 cells and measured the activity of SMAD-dependent and SMAD-independent pathways [1].
  • Heterozygous missense mutations in the serine-threonine kinase receptor BMPR1B result typically in brachydactyly type A2 (BDA2), whereas mutations in the corresponding ligand GDF5 cause brachydactyly type C (BDC) [1].
  • Disturbances of NOG-GDF5-BMPR1B signaling cascade can result in similar clinical manifestations depending on the quantitative effect and mode of action of the specific mutations within the same functional pathway.European Journal of Human Genetics (2006) 14, 1248-1254. doi:10.1038/sj.ejhg.5201708; published online 6 September 2006 [1].
  • The kinase domain sequence is most similar to RPK-1 identified recently in the chick embryo [2].

References

  1. A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. Lehmann, K., Seemann, P., Boergermann, J., Morin, G., Reif, S., Knaus, P., Mundlos, S. Eur. J. Hum. Genet. (2006) [Pubmed]
  2. Nucleotide sequence of a cDNA encoding the chicken receptor protein kinase of the TGF-beta receptor family. Nohno, T., Sumitomo, S., Ishikawa, T., Ando, C., Nishida, S., Noji, S., Saito, T. DNA Seq. (1993) [Pubmed]
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