1 | BMPR1B
|
| A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.
|
| Ullah A, Umair M, Muhammad D, Bilal M, Lee K, Leal SM, Ahmad W.
|
| Ann Hum Genet 82(3):129-134. doi: 10.1111/ahg.12233. Epub 2018 Jan 10.
2018
|
2 | BMPR1B
|
| BMPR1B mutation causes Pierre Robin sequence.
|
| Yang Y, Yuan J, Yao X, Zhang R, Yang H, Zhao R, Guo J, Jin K, Mei H, Luo Y, Zhao L, Tu M, Zhu Y.
|
| Oncotarget 8(16):25864-25871. doi: 10.18632/oncotarget.16531.
2017
|
3 | BMPR1A, BMPR1B
|
| Differential molecular regulation of processing and membrane expression of Type-I BMP receptors: implications for signaling.
|
| Hirschhorn T, Levi-Hofman M, Danziger O, Smorodinsky NI, Ehrlich M.
|
| Cell Mol Life Sci 74(14):2645-2662. doi: 10.1007/s00018-017-2488-y. Epub 2017 Mar 29.
2017
|
4 | BMPR1B
|
| Deletion of BMP receptor type IB decreased bone mass in association with compromised osteoblastic differentiation of bone marrow mesenchymal progenitors.
|
| Shi C, Iura A, Terajima M, Liu F, Lyons K, Pan H, Zhang H, Yamauchi M, Mishina Y, Sun H.
|
| Sci Rep 6:24256. doi: 10.1038/srep24256.
2016
|
5 | BMPR1B
|
| Dysregulation of granulosal bone morphogenetic protein receptor 1B density is associated with reduced ovarian reserve and the age-related decline in human fertility.
|
| Regan SL, Knight PG, Yovich JL, Stanger JD, Leung Y, Arfuso F, Dharmarajan A, Almahbobi G.
|
| Mol Cell Endocrinol 425:84-93. doi: 10.1016/j.mce.2016.01.016. Epub 2016 Jan 20.
2016
|
6 | BMPR1A, BMPR1B, STK11
|
| The protein kinase LKB1 negatively regulates bone morphogenetic protein receptor signaling.
|
| Raja E, Tzavlaki K, Vuilleumier R, Edlund K, Kahata K, Zieba A, Morén A, Watanabe Y, Voytyuk I, Botling J, Söderberg O, Micke P, Pyrowolakis G, Heldin CH, Moustakas A.
|
| Oncotarget 7(2):1120-43. doi: 10.18632/oncotarget.6683.
2016
|
7 | ACVR1, BMPR1A, BMPR1B
|
| The type I BMP receptor ACVR1/ALK2 is required for chondrogenesis during development.
|
| Rigueur D, Brugger S, Anbarchian T, Kim JK, Lee Y, Lyons KM.
|
| J Bone Miner Res 30(4):733-41. doi: 10.1002/jbmr.2385.
2015
|
8 | BDA2, BMPR1B
|
| Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.
|
| Badura-Stronka M, Mróz D, Beighton P, Łukawiecki S, Wicher K, Latos-Bieleńska A, Kozłowski K.
|
| Birth Defects Res A Clin Mol Teratol 103(6):567-72. doi: 10.1002/bdra.23354. Epub 2015 Mar 16.
2015
|
9 | AMDHG, BMPR1B
|
| Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.
|
| Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P.
|
| Eur J Hum Genet 22(6):726-33. doi: 10.1038/ejhg.2013.222. Epub 2013 Oct 16.
2014
|
10 | BMPR1B
|
| Type Ib BMP receptors mediate the rate of commissural axon extension through inhibition of cofilin activity.
|
| Yamauchi K, Varadarajan SG, Li JE, Butler SJ.
|
| Development 140(2):333-42. doi: 10.1242/dev.089524.
2013
|
11 | BMP2, BMPR1B, ODAM
|
| Odontogenic ameloblasts-associated protein (ODAM), via phosphorylation by bone morphogenetic protein receptor type IB (BMPR-IB), is implicated in ameloblast differentiation
|
| Lee HK, Park JT, Cho YS, Bae HS, Cho MI, Park JC.
|
| J Cell Biochem. May;113(5):1754-65. doi: 10.1002/jcb.24047. 2012
|
12 | BMPR1A, BMPR1B
|
| Granulosa cell-expressed BMPR1A and BMPR1B have unique functions in regulating fertility but act redundantly to suppress ovarian tumor development.
|
| Edson MA, Nalam RL, Clementi C, Franco HL, Demayo FJ, Lyons KM, Pangas SA, Matzuk MM.
|
| Mol Endocrinol 24(6):1251-66. Epub 2010 Apr 2.
2010
|
13 | BMPR1B, BDC3, BDA2
|
| 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 14(12):1248-54. Epub 2006 Sep 6. 2006
|
14 | BMPR1A, BMPR1B
|
| Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo.
|
| Yoon BS, Ovchinnikov DA, Yoshii I, Mishina Y, Behringer RR, Lyons KM.
|
| Proc Natl Acad Sci U S A 102(14):5062-7. Epub 2005 Mar 21. 2005
|
15 | AMDHG, BMPR1B
|
| A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.
|
| Demirhan O, Turkmen S, Schwabe GC, Soyupak S, Akgul E, Tastemir D, Karahan D, Mundlos S, Lehmann K.
|
| J Med Genet 42(4):314-7. 2005
|
16 | BMP2, BMPR1B
|
| Bone morphogenetic protein receptor IB signaling mediates apoptosis independently of differentiation in osteoblastic cells.
|
| Hay E, Lemonnier J, Fromigue O, Guenou H, Marie PJ.
|
| J Biol Chem 279(3):1650-8. Epub 2003 Oct 23. 2004
|
17 | BMPR1B
|
| Characterization of the bone morphogenetic protein (BMP) system in human pulmonary arterial smooth muscle cells isolated from a sporadic case of primary pulmonary hypertension: roles of BMP type IB receptor (activin receptor-like kinase-6) in the mitotic action.
|
| Takeda M, Otsuka F, Nakamura K, Inagaki K, Suzuki J, Miura D, Fujio H, Matsubara H, Date H, Ohe T, Makino H.
|
| Endocrinology 145(9):4344-54. Epub 2004 Jun 10. 2004
|
18 | BDA2, BMPR1B
|
| Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
|
| Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Suring K, Majewski F, Tinschert S, Grzeschik KH, Muller D, Knaus P, Nurnberg P, Mundlos S.
|
| Proc Natl Acad Sci U S A 100(21):12277-82. Epub 2003 Oct 01. 2003
|
19 | BMP2, BMP4, BMP7, BMPR1A, BMPR1B, BMPR2, GREM1
|
| Expression of bone morphogenetic proteins (BMP), BMP receptors, and BMP associated proteins in human trabecular meshwork and optic nerve head cells and tissues.
|
| Wordinger RJ, Agarwal R, Talati M, Fuller J, Lambert W, Clark AF.
|
| Mol Vis 8:241-50. 2002
|
20 | BMP1, BMP15, BMP2, BMP3, GDF10, BMP4, BMP5, BMP6, BMP7, BMPR1A, BMPR1APS1, BMPR1B, BMPR2, GDF1, GDF2, GDF3, GDF5, MSTN, GDF9
|
| Regulation of bone morphogenetic protein activity by pro domains and proprotein convertases.
|
| Constam DB, Robertson EJ.
|
| J Cell Biol 144(1):139-49. 1999
|
21 | BMPR1A, BMPR1B
|
| Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23-->q24 byin situ hybridization and radiation hybrid map ping.
|
| Ide H, Saito-Ohara F, Ohnami S, Osada Y, Ikeuchi T, Yoshida T, Terada M.
|
| Cytogenet Cell Genet 81 : 285-286. 1998
|
22 | BMPR1B
|
| Cloning of human bone morphogenetic protein type IB receptor (BMPR-IB) and its expression in prostate cancer in comparison with other BMPRs.
|
| Ide H, Katoh M, Sasaki H, Yoshida T, Aoki K, Nawa Y, Osada Y, Sugimura T, Terada M.
|
| Oncogene 14 : 1377-1382. 1997
|
23 | BMPR1A, BMPR1B
|
| Distinct roles of type I bone morphogenetic protein receptors in the formation and differentiation of cartilage.
|
| Zou H, Wieser R, Massague J, Niswander L.
|
| Genes Dev 11 : 2191-2203. 1997
|
24 | BMPR1B
|
| Characterization of type I receptors for transforming growth factor-beta and activin.
|
| ten Dijke P, Yamashita H, Ichijo H, Franzen P, Laiho M, Miyazono K, Heldin CH.
|
| Science 264 : 101-104. 1994
|
25 | BMPR1B
|
| Identification of type I receptors for osteogenic protein-1 and bone morphogenetic protein-4.
|
| ten Dijke P, Yamashita H, Sampath TK, Reddi AH, Estevez M, Riddle DL, Ichijo H, Heldin CH, Miyazono K.
|
| J Biol Chem 269 : 16985-16988. 1994
|
26 | ACVR1, ACVR1B, ACVRL1, BMPR1A, BMPR1B, TGFBR1
|
| Activin receptor-like kinases : a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.
|
| ten Dijke P, Ichijo H, Franzen P, Schulz P, Saras J, Toyoshima H, Heldin CH, Miyazono K.
|
| Oncogene 8 : 2879-2887. 1993
|