BMPR1A


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BMPR1A

A gene on chromosome 10q22.3 that encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases, which binds and activates SMAD transcription regulators. BMPR1A is a receptor for BMP-2 and BMP-4.
 
Molecular pathology
BMPR1A mutations cause juvenile polyposis syndrome, hereditary mixed polyposis syndrome 2, and may cause Cowden disease.
References in periodicals archive ?
genes APC / MLH1 / MSH2 / MSH6 / PMS2 / STK11 / SMAD4 / BMPR1A / MUTYH / EPCAM;
Quantitative real-time polymerase chain reaction (qRT-PCR) was performed to confirm the differentially expressed genes (DEGs), and then treated the MC3T3-E1 cells with estrogen receptor (ER) inhibitors a and [sz], respectively, and then examined the expression of Tgfbr1 and Bmpr1a genes.
Temporal regulation of BMP2, BMP6, BMP15, GDF9, BMPR1A, BMPR1B, BMPR2 and TGFBR1 mRNA expression in the oocyte, granulosa and theca cells of developing preovulatory follicles in the pig.
Other rare inherited syndromes include oligopolyposis (germline mutations in POLE and POLD1 genes), endonuclease IIIlike protein 1 (encoded by NTHL1 gene), juvenile polyposis syndrome (mutations in BMPR1A and SMAD4 genes), Cowden syndrome (mutations in PTEN gene), and Peutz-Jeghers syndrome (mutations in STK11 gene).
Some mutations in several cancer-related genes such as BMPR1a are also detected in FCCX, but an independent cohort of 22 probands from FCCX families have revealed that BMPR1a mutations are not a major contributor of FCCX incidence [72].
Genes Tested AtP ALK APC ATM BAP1 BRCA2 BRIP1 BUB1B CDC73 CDH1 CEP57 CHEK2 CYLD DDB2 DICER1 ERCC3 ERCC4 ERCC5 EXT1 EXT2 FANCD2 FANCE FANCF FANCG FANCI GATA2 GPC3 HNF1A HOXB13 HRAS MLH1 MHS2 MSH6 MUTYH NBN PHOX2B PMS1 PMS2 PPM1D PRF1 RAD51D RBI RECQL4 RET RHBDF2 SDHC SDHD SLX4 SMAD4 SMARCA4 TP53 TSC1 TSC2 VHL WT1 BARD1 BLM BMPR1A BRCA1 CDK4 CDKN1C CDKN2A CEBPA DI53L2 EGFR EPCAM ERCC2 EZH2 FANCA FANCB FANCC FANCL FANCM FH FLCN KIT MAX MEN1 MET NF1 NF2 NSD1 PALB2 PRKAR1A PTCH1 PTEN RAD51C RUN XI SBDS SDHAF2 SDHB SMARCB1 STK11 5UFU TMEM127 WRN XPA XPC This chart shows all 98 cancer susceptible genes included in this new test.
This disorder is most frequently caused by mutations in the SMAD4 or BMPR1A genes, but together these genes accounts for only 40% of cases [2].
In the DMCL blue group, RUNX1, FANCD2, BMPR1A, BUB1B, EPHB2, EHBP1, PDE11A, RET, and KDR were significantly upregulated, while NF1, KIT, GALNT12, TMC6, ERCC5, DKC1, and TP53 were significantly downregulated.
Stains used in the rectal biopsies include Haematoxylin and Eosin, Acetylcholine esterase on the frozen sections, Nicotinamide adenine dinucleotide phosphate diaphorase (NADPH-d), Nitric oxide synthase (NOS), Peripherin and c-kit, Calretinin, antibodies to neurofilament 68 and tubulin, protein gene product 9.5 (PGP9.5), antigen CD56 (CD56), Cathepsin D, RET, BMPR1A, and bcl-2 immunohistochemistry can be used.
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).
Se han realizado estudios de mutaciones en ratones transgenicos de genes involucrados en el desarrollo dental como son la familia de genes Homeobox, BMP, FGF, Wnt y Shh, donde se ha encontrado asociacion con agenesia, especificamente en la detencion de la etapa de iniciacion los genes Msx1, Msx2, Dlx1, Dlx2, Fgf8, Lhx6/ Lhx7, Pitx2, Gil2, P63, Dkkl, y en la etapa de brote Pax9, Lef1, Max1, Runx2, Barx1, Bmpr1a, Fgfr2b, Shh, Noggin (1).