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Items: 1 to 20 of 54

1.
BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype
Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katarzyna Serwan, Michał Świerniak, Adam Kot, Krystian Jażdżewski, Anna Wójcicka
Mol Genet Genomic Med. 2021 Mar; 9(3): e1594. Published online 2021 Jan 24. doi: 10.1002/mgg3.1594
PMCID:
PMC8104157
AbstractArticlePDF–1.0M
2.
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter–Thompson type
Asmat Ullah, Muhammad Umair, Dost Muhammad, Muhammad Bilal, Kwanghyuk Lee, Suzanne M Leal, Wasim Ahmad
Ann Hum Genet. Author manuscript; available in PMC 2018 Sep 17.
Published in final edited form as: Ann Hum Genet. 2018 May; 82(3): 129–134. Published online 2018 Jan 10. doi: 10.1111/ahg.12233
PMCID:
PMC6141004
AbstractArticlePDF–983K
3.
BMPR1B mutation causes Pierre Robin sequence
Yongjia Yang, Jianying Yuan, Xu Yao, Rong Zhang, Hui Yang, Rui Zhao, Jihong Guo, Ke Jin, Haibo Mei, Yongqi Luo, Liu Zhao, Ming Tu, Yimin Zhu
Oncotarget. 2017 Apr 18; 8(16): 25864–25871. Published online 2017 Mar 23. doi: 10.18632/oncotarget.16531
PMCID:
PMC5432222
AbstractArticlePDF–1.8M
4.
Low expression of BMPRIB indicates poor prognosis of breast cancer and is insensitive to taxane-anthracycline chemotherapy
Kun Dai, Fengxia Qin, Huikun Zhang, Xiaoli Liu, Caixia Guo, Ming Zhang, Feng Gu, Fu Li, Yongjie Ma
Oncotarget. 2016 Jan 26; 7(4): 4770–4784. Published online 2015 Dec 14. doi: 10.18632/oncotarget.6613
PMCID:
PMC4826242
AbstractArticlePDF–8.4M
5.
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
Lemuel Racacho, Ashley M Byrnes, Heather MacDonald, Helen J Dranse, Sarah M Nikkel, Judith Allanson, Elisabeth Rosser, T Michael Underhill, Dennis E Bulman
Eur J Hum Genet. 2015 Dec; 23(12): 1640–1645. Published online 2015 Mar 11. doi: 10.1038/ejhg.2015.38
PMCID:
PMC4795202
AbstractArticlePDF–3.6M
6.
A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
Katja Stange, Julie Désir, Naseebullah Kakar, Thomas D. Mueller, Birgit S. Budde, Christopher T. Gordon, Denise Horn, Petra Seemann, Guntram Borck
Orphanet J Rare Dis. 2015; 10: 84. Published online 2015 Jun 24. doi: 10.1186/s13023-015-0299-5
PMCID:
PMC4482310
AbstractArticlePDF–1.8M
7.
A risk variant in a miR-125b binding site in BMPR1B is associated with breast cancer pathogenesis
Pål Sætrom, Jacob Biesinger, Sierra M. Li, David Smith, Laurent F. Thomas, Karim Majzoub, Guillermo E. Rivas, Jessica Alluin, John J. Rossi, Theodore G. Krontiris, Jeffrey Weitzel, Mary B. Daly, Al B. Benson, John M. Kirkwood, Peter J. O'Dwyer, Rebecca Sutphen, James A. Stewart, David Johnson, Garrett P. Larson
Cancer Res. Author manuscript; available in PMC 2010 Sep 15.
Published in final edited form as: Cancer Res. 2009 Sep 15; 69(18): 7459–7465. Published online 2009 Sep 8. doi: 10.1158/0008-5472.CAN-09-1201
PMCID:
PMC2747041
AbstractArticlePDF–183K
8.
Differential molecular regulation of processing and membrane expression of Type-I BMP receptors: implications for signaling
Tal Hirschhorn, Michal Levi-Hofman, Oded Danziger, Nechama I. Smorodinsky, Marcelo Ehrlich
Cell Mol Life Sci. 2017 Jul; 74(14): 2645–2662. Published online 2017 Mar 29. doi: 10.1007/s00018-017-2488-y
PMCID:
PMC11107780
AbstractArticlePDF–3.6M
9.
骨形成蛋白7通过激活Ⅰ型受体BMPR1A、BMPR1B抑制肺大细胞癌NCI-H460细胞的增殖
徐 慧慧, 齐 艳丽, 顿 嵩, 高 英, 邱 雪杉
Zhongguo Fei Ai Za Zhi. 2010 Jul 20; 13(7): 659–664. Chinese. doi: 10.3779/j.issn.1009-3419.2010.07.01
PMCID:
PMC6000380
AbstractArticlePDF–2.2M
10.
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
Yeşerin Yıldırım, Toufik Ouriachi, Ute Woehlbier, Wahiba Ouahioune, Mahmut Balkan, Sajid Malik, Aslıhan Tolun
Eur J Hum Genet. 2018 Jun; 26(6): 876–885. Published online 2018 Mar 26. doi: 10.1038/s41431-018-0121-7
PMCID:
PMC5973948
AbstractArticlePDF–1.4M
11.
Disequilibrium of BMP2 Levels in the Breast Stem Cell Niche Launches Epithelial Transformation by Overamplifying BMPR1B Cell Response
Marion Chapellier, Elodie Bachelard-Cascales, Xenia Schmidt, Flora Clément, Isabelle Treilleux, Emmanuel Delay, Alexandre Jammot, Christine Ménétrier-Caux, Gaëtan Pochon, Roger Besançon, Thibault Voeltzel, Claude Caron de Fromentel, Christophe Caux, Jean-Yves Blay, Richard Iggo, Véronique Maguer-Satta
Stem Cell Reports. 2015 Feb 10; 4(2): 239–254. Published online 2015 Jan 15. doi: 10.1016/j.stemcr.2014.12.007
PMCID:
PMC4325271
AbstractArticlePDF–6.1M
12.
BMPR1B Up-Regulation via a miRNA Binding Site Variation Defines Endometriosis Susceptibility and CA125 Levels
Cherry Yin-Yi Chang, Yi Chen, Ming-Tsung Lai, Hui-Wen Chang, Jack Cheng, Carmen Chan, Chih-Mei Chen, Shan-Chih Lee, Ying-Ju Lin, Lei Wan, Pei-Wen Tsai, Su-Han Yang, Ching Chung, Jim Jinn-Chyuan Sheu, Fuu-Jen Tsai
PLoS One. 2013; 8(12): e80630. Published online 2013 Dec 5. doi: 10.1371/journal.pone.0080630
PMCID:
PMC3855056
AbstractArticlePDF–901K
13.
A Genome-Wide Linkage and Association Scan Reveals Novel Loci for Hypertension and Blood Pressure Traits
Youling Guo, Brian Tomlinson, Tanya Chu, Yu Jing Fang, Hongsheng Gui, Clara S. Tang, Benjamin H. Yip, Stacey S. Cherny, Yoon-Mi Hur, Pak Chung Sham, Tai Hing Lam, Neil G. Thomas
PLoS One. 2012; 7(2): e31489. Published online 2012 Feb 24. doi: 10.1371/journal.pone.0031489
Correction in:
PLoS One. 2012; 7(6): 10.1371/annotation/4415f88f-ab10-44dd-8ba9-1a57ade740c1.
PMCID:
PMC3286457
AbstractArticlePDF–575K
14.
A mutation in the receptor binding site of GDF5 causes Mohr‐Wriedt brachydactyly type A2
K W Kjaer, H Eiberg, L Hansen, C B van der Hagen, K Rosendahl, N Tommerup, S Mundlos
J Med Genet. 2006 Mar; 43(3): 225–231. Published online 2005 Jul 13. doi: 10.1136/jmg.2005.034058
PMCID:
PMC2563247
AbstractArticlePDF–1.2M
15.
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies
O Demirhan, S Turkmen, G Schwabe, S Soyupak, E Akgul, D Tastemir, D Karahan, S Mundlos, K Lehmann
J Med Genet. 2005 Apr; 42(4): 314–317. doi: 10.1136/jmg.2004.023564
PMCID:
PMC1736042
SummaryPDF–129K
16.
The quiescent fraction of chronic myeloid leukemic stem cells depends on BMPR1B, Stat3 and BMP4-niche signals to persist in patients in remission
Sandrine Jeanpierre, Kawtar Arizkane, Supat Thongjuea, Elodie Grockowiak, Kevin Geistlich, Lea Barral, Thibault Voeltzel, Anissa Guillemin, Sandrine Gonin-Giraud, Olivier Gandrillon, Franck-Emmanuel Nicolini, Adam J. Mead, Véronique Maguer-Satta, Sylvain Lefort
Haematologica. 2021 Jan 1; 106(1): 111–122. Published online 2020 Jan 30. doi: 10.3324/haematol.2019.232793
PMCID:
PMC7776261
AbstractArticlePDF–2.1M
17.
Bone morphogenetic protein type IB receptor is progressively expressed in malignant glioma tumours.
N. Yamada, M. Kato, P. ten Dijke, H. Yamashita, T. K. Sampath, C. H. Heldin, K. Miyazono, K. Funa
Br J Cancer. 1996 Mar; 73(5): 624–629. doi: 10.1038/bjc.1996.108
PMCID:
PMC2074358
SummaryPage BrowsePDF–1.6M
18.
Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe
Luitgard M Graul-Neumann, Alexandra Deichsel, Ulrike Wille, Naseebullah Kakar, Randi Koll, Christian Bassir, Jamil Ahmad, Valerie Cormier-Daire, Stefan Mundlos, Christian Kubisch, Guntram Borck, Eva Klopocki, Thomas D Mueller, Sandra C Doelken, Petra Seemann
Eur J Hum Genet. 2014 Jun; 22(6): 726–733. Published online 2013 Oct 16. doi: 10.1038/ejhg.2013.222
PMCID:
PMC4023204
AbstractArticlePDF–2.2M
19.
Bone morphogenetic protein 4 (BMP4) signaling in retinoblastoma cells
Maike Haubold, Andreas Weise, Harald Stephan, Nicole Dünker
Int J Biol Sci. 2010; 6(7): 700–715. Published online 2010 Nov 24. doi: 10.7150/ijbs.6.700
PMCID:
PMC2999847
AbstractArticlePDF–1.9M
20.
Expression of bone morphogenetic protein-2 and its receptors in epithelial ovarian cancer and their influence on the prognosis of ovarian cancer patients
Ying Ma, Lin Ma, Quan Guo, Shulan Zhang
J Exp Clin Cancer Res. 2010; 29(1): 85. Published online 2010 Jun 30. doi: 10.1186/1756-9966-29-85
PMCID:
PMC2907340
AbstractArticlePDF–703K

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