BMPR1B


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BMPR1B

A gene on chromosome 4q23-q24 that encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases, which binds and activates SMAD transcriptional regulators. BMPR1A is a receptor for BMP7/OP-1 and GDF5.

Molecular pathology
BMPR1B mutations cause acromesomelic chondrodysplasia with genital anomalies, brachydactyly type A2, and are associated with primary pulmonary hypertension.
References in periodicals archive ?
These SNPs were harboured in genes known to play a critical role in bone formation and remodeling, including the MALAT1, MRPL39, FASLG, FAM189A2, RP11-15A1.7, LSAMP, and BMPR1B genes.
The BMP receptors are a family of transmembrane serine/threonine kinases that include the type I receptors Bmpr1a and Bmpr1b , and the type II receptor Bmpr2 .[20] Deletion of the receptor Bmpr1a in the osteoblast lineage cells with a Dmp1 -Cre caused a dramatic increase in trabecular bone mass in postnatal mice, which was due to a marked increase in osteoblast numbers.
Using this procedure, we found similar gene expression profiles for INHA, IGFBP5, BMPR1B, BMP2, INSIG, PTGS2, LOC102181730 and LOC102184274, which indicated the high credibility of these genes in transcript abundance; however, some factors in the RNA-seq results, including BAX, LOC102183322, and BCL2, were inconsistent (Fig.
Genotyping of BMPR1B, BMP15 and GDF9 genes in Chilean sheep breeds and association with prolificacy.
Using real time quantitative PCR (qPCR), we observed significant upregulation of BMP2, BMPr1b, Tuft1, OPG, and Wnt10b upon IL-27 treatment in differentiating osteoblasts/osteocytes (*P < 0.05; Figure 2(a), right plot).
Bone morphogenetic protein receptor, type IB (BMPR1B) encodes a member of the bone morphogenetic protein receptor family of transmembrane serine/threonine kinases, which are involved in endochondral bone formation and embryogenesis.
Overexpression of a dominant-negative BMPR1B also inhibited osteoblast differentiation in osteoblast precursor cells (25).
Ahmed et al., "The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations," Journal of Medical Genetics, vol.
Expression of TGF[beta]1, VEGFA, COL1, POSTN, RUNX2, Ki67, TGF[beta] receptors (TGF[beta]R1, TGF[beta]R2), BMP receptors (BMPR1A, BMPR1B, and BMPR2), leptin, full-length LEPR, IL-6, tumor necrosis factor (TNF) [alpha], cyclooxygenase (COX) 2, and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) was detected by real-time PCR using the iCycler iQ detection system (Bio-Rad Laboratories), SYBR Green (Bio-Rad Laboratories), and specific primers (QuantiTect Primer Assay, Qiagen).
Components identified from the arrayed clones of the EST collection include bmp2/4, bmp5-8, twg, cv-2, xolloid/tolloid, chordin, noggin, follistatin, gremlin1, gremlin2, neuralin, dan, kielin-like, bmpR1B, bmpR2, bambi, smad1/5, smad4, smad6/7, smurf, and tak.