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    BMPR1A bone morphogenetic protein receptor type 1A [ Homo sapiens (human) ]

    Gene ID: 657, updated on 6-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Results suggest that BMPRIA expression identifies thymic NK cell precursors and that BMP signaling is relevant for NK cell differentiation in the thymus.

    Expression of BMPRIA on human thymic NK cell precursors: role of BMP signaling in intrathymic NK cell development.
    Hidalgo L, Martínez VG, Valencia J, Hernández-López C, Vázquez MN, Nuñez JR, Zapata AG, Sacedón R, Varas A, Vicente A.

    05/26/2012
    Sp1 was found to be a candidate factor that likely plays a role in the transcriptional regulation of BMPR1A.

    SP1 regulates the transcription of BMPR1A.
    Dahdaleh FS, Carr JC, Calva D, Howe JR, Howe JR., Free PMC Article

    01/14/2012
    Disruption of BMPR1A-mediated BMP1 signalling during the narrow window of early embryogenesis may interfere with normal VBW formation, causing omphalocele phenotype in the Cd chick model.

    BMPR1A-mediated BMP1 signalling is disrupted in the cadmium-induced omphalocele in the chick model.
    Doi T, Puri P, Bannigan J, Thompson J.

    12/3/2011
    Letter: Report the phenotypic spectrum of BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.

    BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency.
    Nieminen TT, Abdel-Rahman WM, Ristimäki A, Lappalainen M, Lahermo P, Mecklin JP, Järvinen HJ, Peltomäki P.

    09/10/2011
    Data show that blocking both endogenous BMPR1A and BMPR1B almost offset the effect of BMP7 on the proliferation of NCI-H460 cell completely.

    [BMP7 signaling via BMPR1A, BMPR1B inhibits the proliferation of lung large carcinoma NCI-H460 cell].
    Xu H, Qi Y, Dun S, Gao Y, Qiu X., Free PMC Article

    08/6/2011
    Juvenile polyps with a SMAD4 germline mutation were predominantly type B, whereas type A was more common among juvenile polyps with a BMPR1A germline mutation.

    Histologic variations in juvenile polyp phenotype correlate with genetic defect underlying juvenile polyposis.
    van Hattem WA, Langeveld D, de Leng WW, Morsink FH, van Diest PJ, Iacobuzio-Donahue CA, Giardiello FM, Offerhaus GJ, Brosens LA., Free PMC Article

    05/14/2011
    identified the promoter for BMPR1A, in which mutations may be responsible for as many as 10% of juvenile polyposis cases with unknown mutations

    Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.
    Calva-Cerqueira D, Dahdaleh FS, Woodfield G, Chinnathambi S, Nagy PL, Larsen-Haidle J, Weigel RJ, Howe JR., Free PMC Article

    05/14/2011
    The crystal structure of the complex of the BMPR-IA bound to the Fab AbD1556 revealed that the contact surface of BMPR-IA overlaps extensively with the contact surface for BMP-2 interaction.

    A selection fit mechanism in BMP receptor IA as a possible source for BMP ligand-receptor promiscuity.
    Harth S, Kotzsch A, Hu J, Sebald W, Mueller TD., Free PMC Article

    02/26/2011
    BMPR1A were detected in the human retina and retinoblastoma cell lines.

    Bone morphogenetic protein 4 (BMP4) signaling in retinoblastoma cells.
    Haubold M, Weise A, Stephan H, Dünker N., Free PMC Article

    02/5/2011
    Crystals BMP receptor type IA bound to the antibody Fab fragment belonged to the monoclinic space group P2(1), with unit-cell parameters a=89.32, b=129.25, c=100.24 A, beta=92.27 degrees

    Crystallization of BMP receptor type IA bound to the antibody Fab fragment AbD1556.
    Harth S, Kotzsch A, Sebald W, Mueller TD., Free PMC Article

    11/27/2010
    Low BMP2 is associated with epithelial ovarian cancer.

    Expression of bone morphogenetic protein-2 and its receptors in epithelial ovarian cancer and their influence on the prognosis of ovarian cancer patients.
    Ma Y, Ma L, Guo Q, Zhang S., Free PMC Article

    10/30/2010
    we describe the significance of a bone morphogenetic protein receptor type 1A gene mutation in an Irish family with hereditary mixed polyposis syndrome.

    Hereditary mixed polyposis syndrome due to a BMPR1A mutation.
    O'Riordan JM, O'Donoghue D, Green A, Keegan D, Hawkes LA, Payne SJ, Sheahan K, Winter DC.

    10/30/2010
    Germline BMPR1A defect is the disease-causing mutation in 50% of the HMPS families.

    Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome.
    Cheah PY, Wong YH, Chau YP, Loi C, Lim KH, Lim JF, Koh PK, Eu KW.

    02/1/2010
    genetic variation in the BMPR1A may play a role in the pathophysiology of human obesity, possibly mediated through effects on mRNA expression

    Adipose tissue expression and genetic variants of the bone morphogenetic protein receptor 1A gene (BMPR1A) are associated with human obesity.
    Böttcher Y, Unbehauen H, Klöting N, Ruschke K, Körner A, Schleinitz D, Tönjes A, Enigk B, Wolf S, Dietrich K, Koriath M, Scholz GH, Tseng YH, Dietrich A, Schön MR, Kiess W, Stumvoll M, Blüher M, Kovacs P., Free PMC Article

    01/21/2010
    The prevalence of germline mutations of BMPR1A and SMAD4 are about 20% each in the patient with JPS.

    Pediatric juvenile polyposis syndromes: an update.
    Huang SC, Erdman SH.

    01/21/2010
    5-HT transactivates the serine kinase receptor, BMPR 1A, to activate Smads 1/5/8 via Rho and Rho kinase in in bovine and human pulmonary artery smooth muscle cells

    Serotonin induces Rho/ROCK-dependent activation of Smads 1/5/8 in pulmonary artery smooth muscle cells.
    Liu Y, Ren W, Warburton R, Toksoz D, Fanburg BL.

    01/21/2010
    The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date

    The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
    Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR.

    01/21/2010
    The solution structure of BMPR-IA reveals a local disorder-to-order transition upon BMP-2 binding.

    The solution structure of BMPR-IA reveals a local disorder-to-order transition upon BMP-2 binding.
    Klages J, Kotzsch A, Coles M, Sebald W, Nickel J, Müller T, Kessler H.

    01/21/2010
    Loss of Bmpr1a, by decreasing MMP2 and/or MMP9 activity, can account for vascular dilatation and persistence of brain microvessels, leading to the impaired organogenesis documented in the brain.

    SM22alpha-targeted deletion of bone morphogenetic protein receptor 1A in mice impairs cardiac and vascular development, and influences organogenesis.
    El-Bizri N, Guignabert C, Wang L, Cheng A, Stankunas K, Chang CP, Mishina Y, Rabinovitch M., Free PMC Article

    01/21/2010
    patients with 10q23 microdeletions involving the PTEN and BMPR1A genes have variable clinical phenotypes, which cannot be explained merely by the deletion sizes, and are not restricted to severe infantile juvenile polyposis

    Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.
    Menko FH, Kneepkens CM, de Leeuw N, Peeters EA, Van Maldergem L, Kamsteeg EJ, Davidson R, Rozendaal L, Lasham CA, Peeters-Scholte CM, Jansweijer MC, Hilhorst-Hofstee Y, Gille JJ, Heins YM, Nieuwint AW, Sistermans EA.

    01/21/2010
    Expression of BMP-4 and BMP-7 and their receptors in human ovaries from fetuses as well as adults.

    Expression of bone morphogenetic proteins 4 and 7 and their receptors IA, IB, and II in human ovaries from fetuses and adults.
    Abir R, Ben-Haroush A, Melamed N, Felz C, Krissi H, Fisch B.

    01/21/2010
    Large genomic deletions of SMAD4, BMPR1A and PTEN are a common cause of JPS.

    Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.
    van Hattem WA, Brosens LA, de Leng WW, Morsink FH, Lens S, Carvalho R, Giardiello FM, Offerhaus GJ.

    01/21/2010
    Germline mutation of BMPR1A in a family with juvenile polyposis and colon cancer

    A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis.
    Howe JR, Chinnathambi S, Calva D, Bair J, Pechman B, Salamon A, Tam B, Simon L., Free PMC Article

    01/21/2010
    inactivating BMPR-IA and causing a loss of the BMP-2 tumor suppressor function in colon epithelial cells.

    Structure analysis of bone morphogenetic protein-2 type I receptor complexes reveals a mechanism of receptor inactivation in juvenile polyposis syndrome.
    Kotzsch A, Nickel J, Seher A, Heinecke K, van Geersdaele L, Herrmann T, Sebald W, Mueller TD.

    01/21/2010
    Linkage analysis suggested a cryptic BMPR1A mutation or the presence of another gene in close proximity to the BMPR1A locus.

    A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?
    Chow E, Lipton L, Carvajal-Carmona LG, Arthur G, Bhathal P, Kaur G, Jaeger E, Woodford-Richens K, Howarth K, Tomlinson I, Macrae F.

    01/21/2010