Morphogene Knochenprotein-Rezeptor Typ 1B

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Demirhan O et al. (2005) A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.

Graul-Neumann LM et al. (2014) Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

Stange K et al. (2015) A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

Lehmann K et al. (2006) A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

Racacho L et al. (2015) Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Lehmann K et al. (2003) Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

ten Dijke P et al. (1994) Characterization of type I receptors for transforming growth factor-beta and activin.

Ide H et al. (1997) Cloning of human bone morphogenetic protein type IB receptor (BMPR-IB) and its expression in prostate cancer in comparison with other BMPRs.

Ide H et al. (1998) Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23-->q24 byin situ hybridization and radiation hybrid map ping.

Aström AK et al. (1999) Chromosomal localization of three human genes encoding bone morphogenetic protein receptors.

Yoon BS et al. (2005) Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo.

NCBI article

OMIM.ORG article

Orphanet article