Bone Morphogenetic Protein (BMP) signaling in development and human diseases

Genes and Diseases - Tập 1 Số 1 - Trang 87-105 - 2014
Richard N. Wang1,2, Jordan J. Green1,2, Zhongliang Wang3,1, Youlin Deng3,1, Min Qiao3,1, Michael R. Peabody1, Qian Zhang3,1, Jixing Ye1,4, Zhengjian Yan3,1, Sahitya K. Denduluri1,2, Olumuyiwa Idowu1,2, Melissa Li1, Christine Shen1, A Hu1, Rex C. Haydon1, Richard W. Kang1, James M. Mok1, Michael J. Lee1, Hue L. Luu1, Lewis L. Shi1
1Molecular Oncology Laboratory, Department of Orthopaedic Surgery and Rehabilitation Medicine, The University of Chicago Medical Center, Chicago, IL, 60637, USA
2The University of Chicago Pritzker School of Medicine, Chicago, IL 60637, USA
3Departments of Orthopaedic Surgery, Medicine, and Gynecology, the Affiliated Hospitals of Chongqing Medical University, Chongqing 400016, China
4School of Bioengineering, Chongqing University, Chongqing, China

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Tài liệu tham khảo

Urist, 1965, Bone: formation by autoinduction, Science, 150, 893, 10.1126/science.150.3698.893

Wozney, 1988, Novel regulators of bone formation: molecular clones and activities, Science, 242, 1528, 10.1126/science.3201241

Hemmati-Brivanlou, 1995, Ventral mesodermal patterning in Xenopus embryos: expression patterns and activities of BMP-2 and BMP-4, Dev Genet, 17, 78, 10.1002/dvg.1020170109

Zou, 1996, Requirement for BMP signaling in interdigital apoptosis and scale formation, Science, 272, 738, 10.1126/science.272.5262.738

Stewart, 2010, BMP-3 promotes mesenchymal stem cell proliferation through the TGF-beta/activin signaling pathway, J Cell Physiol, 223, 658, 10.1002/jcp.22064

Kobayashi, 2005, BMP signaling stimulates cellular differentiation at multiple steps during cartilage development, Proc Natl Acad Sci U S A, 102, 18023, 10.1073/pnas.0503617102

Bobacz, 2003, Expression of bone morphogenetic protein 6 in healthy and osteoarthritic human articular chondrocytes and stimulation of matrix synthesis in vitro, Arthritis Rheum, 48, 2501, 10.1002/art.11248

Tsuji, 2006, BMP2 activity, although dispensable for bone formation, is required for the initiation of fracture healing, Nat Genet, 38, 1424, 10.1038/ng1916

Huang, 2009, Defective pulmonary vascular remodeling in Smad8 mutant mice, Hum Mol Genet, 18, 2791, 10.1093/hmg/ddp214

Wagner, 2010, BMPs: from bone to body morphogenetic proteins, Sci Signal, 3

Harrison, 2011, Prodomains regulate the synthesis, extracellular localisation and activity of TGF-β superfamily ligands, Growth Factors Chur Switz, 29, 174, 10.3109/08977194.2011.608666

Heldin, 1997, TGF-beta signalling from cell membrane to nucleus through SMAD proteins, Nature, 390, 465, 10.1038/37284

Horbelt, 2012, A portrait of transforming growth factor β superfamily signalling: background matters, Int J Biochem Cell Biol, 44, 469, 10.1016/j.biocel.2011.12.013

De Caestecker, 2004, The transforming growth factor-beta superfamily of receptors, Cytokine Growth Factor Rev, 15, 1, 10.1016/j.cytogfr.2003.10.004

Nohe, 2002, The mode of bone morphogenetic protein (BMP) receptor oligomerization determines different BMP-2 signaling pathways, J Biol Chem, 277, 5330, 10.1074/jbc.M102750200

Heldin, 2012, Role of Smads in TGFβ signaling, Cell Tissue Res, 347, 21, 10.1007/s00441-011-1190-x

Derynck, 2003, Smad-dependent and Smad-independent pathways in TGF-beta family signalling, Nature, 425, 577, 10.1038/nature02006

Yamaguchi, 1995, Identification of a member of the MAPKKK family as a potential mediator of TGF-beta signal transduction, Science, 270, 2008, 10.1126/science.270.5244.2008

Zhang, 2009, Non-Smad pathways in TGF-beta signaling, Cell Res, 19, 128, 10.1038/cr.2008.328

Broege, 2013, Bone morphogenetic proteins signal via SMAD and mitogen-activated protein (MAP) kinase pathways at distinct times during osteoclastogenesis, J Biol Chem, 288, 37230, 10.1074/jbc.M113.496950

Corradini, 2009, The RGM/DRAGON family of BMP co-receptors, Cytokine Growth Factor Rev, 20, 389, 10.1016/j.cytogfr.2009.10.008

Walsh, 2010, Extracellular BMP-antagonist regulation in development and disease: tied up in knots, Trends Cell Biol, 20, 244, 10.1016/j.tcb.2010.01.008

Yao, 2000, FKBP12 is a negative regulator of transforming growth factor-beta receptor internalization, J Biol Chem, 275, 13149, 10.1074/jbc.275.17.13149

Toporsian, 2010, Spontaneous adult-onset pulmonary arterial hypertension attributable to increased endothelial oxidative stress in a murine model of hereditary hemorrhagic telangiectasia, Arterioscler Thromb Vasc Biol, 30, 509, 10.1161/ATVBAHA.109.200121

Mueller, 2012, Promiscuity and specificity in BMP receptor activation, FEBS Lett, 586, 1846, 10.1016/j.febslet.2012.02.043

Kessler, 1996, Bone morphogenetic protein-1: the type I procollagen C-proteinase, Science, 271, 360, 10.1126/science.271.5247.360

Shen, 2009, BMP-13 emerges as a potential inhibitor of bone formation, Int J Biol Sci, 5, 192, 10.7150/ijbs.5.192

Daluiski, 2001, Bone morphogenetic protein-3 is a negative regulator of bone density, Nat Genet, 27, 84, 10.1038/83810

Luu, 2007, Distinct roles of bone morphogenetic proteins in osteogenic differentiation of mesenchymal stem cells, J Orthop Res Off Publ Orthop Res Soc, 25, 665, 10.1002/jor.20359

Shu, 2011, BMP2, but not BMP4, is crucial for chondrocyte proliferation and maturation during endochondral bone development, J Cell Sci, 124, 3428, 10.1242/jcs.083659

Selever, 2004, Bmp4 in limb bud mesoderm regulates digit pattern by controlling AER development, Dev Biol, 276, 268, 10.1016/j.ydbio.2004.08.024

Asai-Coakwell, 2007, GDF6, a novel locus for a spectrum of ocular developmental anomalies, Am J Hum Genet, 80, 306, 10.1086/511280

Zhao, 1998, Bone morphogenetic protein 8A plays a role in the maintenance of spermatogenesis and the integrity of the epididymis, Dev Camb Engl, 125, 1103

Settle, 2001, The BMP family member Gdf7 is required for seminal vesicle growth, branching morphogenesis, and cytodifferentiation, Dev Biol, 234, 138, 10.1006/dbio.2001.0244

Otsuka, 2000, Bone morphogenetic protein-15. Identification of target cells and biological functions, J Biol Chem, 275, 39523, 10.1074/jbc.M007428200

Suzuki, 1996, Failure of ventral body wall closure in mouse embryos lacking a procollagen C-proteinase encoded by Bmp1, a mammalian gene related to Drosophila tolloid, Dev Camb Engl, 122, 3587

Zhang, 1996, Mice deficient for BMP2 are nonviable and have defects in amnion/chorion and cardiac development, Dev Camb Engl, 122, 2977

Rivera-Feliciano, 2006, Bmp2 instructs cardiac progenitors to form the heart-valve-inducing field, Dev Biol, 295, 580, 10.1016/j.ydbio.2006.03.043

Ma, 2005, Bmp2 is essential for cardiac cushion epithelial-mesenchymal transition and myocardial patterning, Dev Camb Engl, 132, 5601

Winnier, 1995, Bone morphogenetic protein-4 is required for mesoderm formation and patterning in the mouse, Genes Dev, 9, 2105, 10.1101/gad.9.17.2105

Lawson, 1999, Bmp4 is required for the generation of primordial germ cells in the mouse embryo, Genes Dev, 13, 424, 10.1101/gad.13.4.424

De Sousa Lopes, 2004, BMP signaling mediated by ALK2 in the visceral endoderm is necessary for the generation of primordial germ cells in the mouse embryo, Genes Dev, 18, 1838, 10.1101/gad.294004

Furuta, 1998, BMP4 is essential for lens induction in the mouse embryo, Genes Dev, 12, 3764, 10.1101/gad.12.23.3764

Dunn, 1997, Haploinsufficient phenotypes in Bmp4 heterozygous null mice and modification by mutations in Gli3 and Alx4, Dev Biol, 188, 235, 10.1006/dbio.1997.8664

Jiao, 2003, An essential role of Bmp4 in the atrioventricular septation of the mouse heart, Genes Dev, 17, 2362, 10.1101/gad.1124803

Goldman, 2009, Fleming WH. BMP4 regulates the hematopoietic stem cell niche, Blood, 114, 4393, 10.1182/blood-2009-02-206433

Qian, 2013, BMP4-mediated brown fat-like changes in white adipose tissue alter glucose and energy homeostasis, Proc Natl Acad Sci U S A, 110, E798, 10.1073/pnas.1215236110

Li, 2008, Bmp4 is required for tracheal formation: a novel mouse model for tracheal agenesis, Dev Biol, 322, 145, 10.1016/j.ydbio.2008.07.021

Liu, 2004, Bmp4 signaling is required for outflow-tract septation and branchial-arch artery remodeling, Proc Natl Acad Sci U S A, 101, 4489, 10.1073/pnas.0308466101

Liu, 2005, Threshold-specific requirements for Bmp4 in mandibular development, Dev Biol, 283, 282, 10.1016/j.ydbio.2005.04.019

Chang, 2008, Bmp4 is essential for the formation of the vestibular apparatus that detects angular head movements, PLoS Genet, 4, e1000050, 10.1371/journal.pgen.1000050

Kingsley, 1992, The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily, Cell, 71, 399, 10.1016/0092-8674(92)90510-J

Mikić, 1995, Long bone geometry and strength in adult BMP-5 deficient mice, Bone, 16, 445

Solloway, 1998, Mice lacking Bmp6 function, Dev Genet, 22, 321, 10.1002/(SICI)1520-6408(1998)22:4<321::AID-DVG3>3.0.CO;2-8

Perry, 2008, Impaired growth plate function in bmp-6 null mice, Bone, 42, 216, 10.1016/j.bone.2007.09.053

Sugiura, 2010, Does bone morphogenetic protein 6 (BMP6) affect female fertility in the mouse?, Biol Reprod, 83, 997, 10.1095/biolreprod.110.086777

Dudley, 1995, A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye, Genes Dev, 9, 2795, 10.1101/gad.9.22.2795

Luo, 1995, BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning, Genes Dev, 9, 2808, 10.1101/gad.9.22.2808

Segklia, 2012, Bmp7 regulates the survival, proliferation, and neurogenic properties of neural progenitor cells during corticogenesis in the mouse, PloS One, 7, e34088, 10.1371/journal.pone.0034088

Tseng, 2008, New role of bone morphogenetic protein 7 in brown adipogenesis and energy expenditure, Nature, 454, 1000, 10.1038/nature07221

Yasmin, 2013, Identification of bone morphogenetic protein 7 (BMP7) as an instructive factor for human epidermal Langerhans cell differentiation, J Exp Med, 210, 2597, 10.1084/jem.20130275

Tomita, 2013, Bmp7 maintains undifferentiated kidney progenitor population and determines nephron numbers at birth, PloS One, 8, e73554, 10.1371/journal.pone.0073554

Tsuji, 2010, Conditional deletion of BMP7 from the limb skeleton does not affect bone formation or fracture repair, J Orthop Res Off Publ Orthop Res Soc, 28, 384, 10.1002/jor.20996

Kazama, 2008, Podocyte-derived BMP7 is critical for nephron development, J Am Soc Nephrol JASN, 19, 2181, 10.1681/ASN.2007111212

Ying, 2000, Requirement of Bmp8b for the generation of primordial germ cells in the mouse, Mol Endocrinol Balt Md, 14, 1053, 10.1210/mend.14.7.0479

Zhao, 1996, The gene encoding bone morphogenetic protein 8B is required for the initiation and maintenance of spermatogenesis in the mouse, Genes Dev, 10, 1657, 10.1101/gad.10.13.1657

Levet, 2013, Bone morphogenetic protein 9 (BMP9) controls lymphatic vessel maturation and valve formation, Blood, 122, 598, 10.1182/blood-2012-12-472142

Yoshimatsu, 2013, Bone morphogenetic protein-9 inhibits lymphatic vessel formation via activin receptor-like kinase 1 during development and cancer progression, Proc Natl Acad Sci U S A, 110, 18940, 10.1073/pnas.1310479110

Chen, 2004, BMP10 is essential for maintaining cardiac growth during murine cardiogenesis, Dev Camb Engl, 131, 2219

McPherron, 1999, Regulation of anterior/posterior patterning of the axial skeleton by growth/differentiation factor 11, Nat Genet, 22, 260, 10.1038/10320

Dichmann, 2006, Analysis of pancreatic endocrine development in GDF11-deficient mice, Dev Dyn Off Publ Am Assoc Anat, 235, 3016

Harmon, 2004, GDF11 modulates NGN3+ islet progenitor cell number and promotes beta-cell differentiation in pancreas development, Dev Camb Engl, 131, 6163

Esquela, 2003, Regulation of metanephric kidney development by growth/differentiation factor 11, Dev Biol, 257, 356, 10.1016/S0012-1606(03)00100-3

Shi, 2011, Gdf11 facilitates temporal progression of neurogenesis in the developing spinal cord, J Neurosci Off J Soc Neurosci, 31, 883, 10.1523/JNEUROSCI.2394-10.2011

Wu, 2003, Autoregulation of neurogenesis by GDF11, Neuron, 37, 197, 10.1016/S0896-6273(02)01172-8

Kim, 2005, GDF11 controls the timing of progenitor cell competence in developing retina, Science, 308, 1927, 10.1126/science.1110175

Mikic, 2008, Accelerated hypertrophic chondrocyte kinetics in GDF-7 deficient murine tibial growth plates, J Orthop Res Off Publ Orthop Res Soc, 26, 986, 10.1002/jor.20574

Maloul, 2006, Geometric and material contributions to whole bone structural behavior in GDF-7-deficient mice, Connect Tissue Res, 47, 157, 10.1080/03008200600719142

Mikic, 2008, Effect of GDF-7 deficiency on tail tendon phenotype in mice, J Orthop Res Off Publ Orthop Res Soc, 26, 834, 10.1002/jor.20581

Mikic, 2006, Achilles tendon characterization in GDF-7 deficient mice, J Orthop Res Off Publ Orthop Res Soc, 24, 831, 10.1002/jor.20092

Lee, 1998, Neuronal patterning by BMPs: a requirement for GDF7 in the generation of a discrete class of commissural interneurons in the mouse spinal cord, Genes Dev, 12, 3394, 10.1101/gad.12.21.3394

Settle, 2003, Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes, Dev Biol, 254, 116, 10.1016/S0012-1606(02)00022-2

Clendenning, 2012, The BMP ligand Gdf6 prevents differentiation of coronal suture mesenchyme in early cranial development, PloS One, 7, e36789, 10.1371/journal.pone.0036789

Asai-Coakwell, 2013, Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies, Hum Mol Genet, 22, 1432, 10.1093/hmg/dds560

Hanel, 2006, Eye and neural defects associated with loss of GDF6, BMC Dev Biol, 6, 43, 10.1186/1471-213X-6-43

Tassabehji, 2008, Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome, Hum Mutat, 29, 1017, 10.1002/humu.20741

Mikic, 2009, Identification of a tendon phenotype in GDF6 deficient mice, Anat Rec Hoboken, 292, 396, 10.1002/ar.20852

Mikic, 2009, Sexual dimorphism in the effect of GDF-6 deficiency on murine tendon, J Orthop Res Off Publ Orthop Res Soc, 27, 1603, 10.1002/jor.20916

Storm, 1994, Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily, Nature, 368, 639, 10.1038/368639a0

Storm, 1999, GDF5 coordinates bone and joint formation during digit development, Dev Biol, 209, 11, 10.1006/dbio.1999.9241

Chhabra, 2005, BMP-14 deficiency inhibits long bone fracture healing: a biochemical, histologic, and radiographic assessment, J Orthop Trauma, 19, 629, 10.1097/01.bot.0000177108.38461.9c

Coleman, 2011, Delayed fracture healing in growth differentiation factor 5-deficient mice: a pilot study, Clin Orthop, 469, 2915, 10.1007/s11999-011-1912-0

Masuya, 2007, A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice, Hum Mol Genet, 16, 2366, 10.1093/hmg/ddm195

Mikic, 2001, GDF-5 deficiency in mice alters the ultrastructure, mechanical properties and composition of the Achilles tendon, J Orthop Res Off Publ Orthop Res Soc, 19, 365, 10.1016/S0736-0266(00)90018-4

Zaidi, 2010, Growth differentiation factor 5 regulates cardiac repair after myocardial infarction, J Am Coll Cardiol, 55, 135, 10.1016/j.jacc.2009.08.041

Battaglia, 2005, GDF-5 deficiency alters stress-relaxation properties in mouse skin, J Dermatol Sci, 39, 192, 10.1016/j.jdermsci.2005.07.002

Yan, 2001, Synergistic roles of bone morphogenetic protein 15 and growth differentiation factor 9 in ovarian function, Mol Endocrinol Balt Md, 15, 854, 10.1210/mend.15.6.0662

Lechleider, 2001, Targeted mutagenesis of Smad1 reveals an essential role in chorioallantoic fusion, Dev Biol, 240, 157, 10.1006/dbio.2001.0469

Tremblay, 2001, Mouse embryos lacking Smad1 signals display defects in extra-embryonic tissues and germ cell formation, Dev Camb Engl, 128, 3609

Hayashi, 2002, SMAD1 signaling is critical for initial commitment of germ cell lineage from mouse epiblast, Mech Dev, 118, 99, 10.1016/S0925-4773(02)00237-X

Wang, 2011, Smad1 plays an essential role in bone development and postnatal bone formation, Osteoarthr Cartil OARS Osteoarthr Res Soc, 19, 751, 10.1016/j.joca.2011.03.004

Xu, 2011, Smad1 and its target gene Wif1 coordinate BMP and Wnt signaling activities to regulate fetal lung development, Dev Camb Engl, 138, 925

Chang, 1999, Smad5 knockout mice die at mid-gestation due to multiple embryonic and extraembryonic defects, Dev Camb Engl, 126, 1631

Chang, 2001, Smad5 is required for mouse primordial germ cell development, Mech Dev, 104, 61, 10.1016/S0925-4773(01)00367-7

Chang, 2000, Smad5 is essential for left-right asymmetry in mice, Dev Biol, 219, 71, 10.1006/dbio.1999.9594

Arnold, 2006, Dose-dependent Smad1, Smad5 and Smad8 signaling in the early mouse embryo, Dev Biol, 296, 104, 10.1016/j.ydbio.2006.04.442

Sirard, 1998, The tumor suppressor gene Smad4/Dpc4 is required for gastrulation and later for anterior development of the mouse embryo, Genes Dev, 12, 107, 10.1101/gad.12.1.107

Takaku, 1999, Gastric and duodenal polyps in Smad4 (Dpc4) knockout mice, Cancer Res, 59, 6113

Taketo, 2000, Gastro-intestinal tumorigenesis in Smad4 mutant mice, Cytokine Growth Factor Rev, 11, 147, 10.1016/S1359-6101(99)00038-6

Pan, 2007, Normal erythropoiesis but severe polyposis and bleeding anemia in Smad4-deficient mice, Blood, 110, 3049, 10.1182/blood-2007-02-074393

Tan, 2007, Smad4 is required for maintaining normal murine postnatal bone homeostasis, J Cell Sci, 120, 2162, 10.1242/jcs.03466

Yang, 2009, Chondrocyte-specific Smad4 gene conditional knockout results in hearing loss and inner ear malformation in mice, Dev Dyn Off Publ Am Assoc Anat, 238, 1897

Yang, 2011, The role of Smad4 in vestibular development in mice, Int J Dev Neurosci Off J Int Soc Dev Neurosci, 29, 15, 10.1016/j.ijdevneu.2010.10.004

Zhang, 2005, Smad4 is required for the normal organization of the cartilage growth plate, Dev Biol, 284, 311, 10.1016/j.ydbio.2005.05.036

Sartori, 2013, BMP signaling controls muscle mass, Nat Genet, 45, 1309, 10.1038/ng.2772

Wang, 2005, Targeted disruption of Smad4 in cardiomyocytes results in cardiac hypertrophy and heart failure, Circ Res, 97, 821, 10.1161/01.RES.0000185833.42544.06

Lan, 2007, Essential role of endothelial Smad4 in vascular remodeling and integrity, Mol Cell Biol, 27, 7683, 10.1128/MCB.00577-07

Qi, 2007, Essential role of Smad4 in maintaining cardiomyocyte proliferation during murine embryonic heart development, Dev Biol, 311, 136, 10.1016/j.ydbio.2007.08.022

Mao, 2012, Vascular smooth muscle cell Smad4 gene is important for mouse vascular development, Arterioscler Thromb Vasc Biol, 32, 2171, 10.1161/ATVBAHA.112.253872

Zhou, 2003, Cerebellar deficits and hyperactivity in mice lacking Smad4, J Biol Chem, 278, 42313, 10.1074/jbc.M308287200

Liu, 2014, Necessity of Smad4 for the normal development of the mouse lacrimal gland, Jpn J Ophthalmol, 58, 298, 10.1007/s10384-014-0307-7

Archambeault, 2014, Loss of smad4 in Sertoli and Leydig cells leads to testicular dysgenesis and hemorrhagic tumor formation in mice, Biol Reprod, 90, 62, 10.1095/biolreprod.113.111393

Yu, 2013, Selective Smad4 knockout in ovarian preovulatory follicles results in multiple defects in ovulation, Mol Endocrinol Balt Md, 27, 966, 10.1210/me.2012-1364

Pangas, 2006, Premature luteinization and cumulus cell defects in ovarian-specific Smad4 knockout mice, Mol Endocrinol Balt Md, 20, 1406, 10.1210/me.2005-0462

Owens, 2010, Epidermal Smad4 deletion results in aberrant wound healing, Am J Pathol, 176, 122, 10.2353/ajpath.2010.090081

Qiao, 2006, Hair follicle defects and squamous cell carcinoma formation in Smad4 conditional knockout mouse skin, Oncogene, 25, 207, 10.1038/sj.onc.1209029

Yang, 2012, Smad4 disruption accelerates keratinocyte reepithelialization in murine cutaneous wound repair, Histochem Cell Biol, 138, 573, 10.1007/s00418-012-0974-8

Bornstein, 2009, Smad4 loss in mice causes spontaneous head and neck cancer with increased genomic instability and inflammation, J Clin Invest, 119, 3408

Gao, 2009, Disruption of Smad4 in odontoblasts causes multiple keratocystic odontogenic tumors and tooth malformation in mice, Mol Cell Biol, 29, 5941, 10.1128/MCB.00706-09

Estrada, 2011, Smad6 is essential to limit BMP signaling during cartilage development, J Bone Min Res Off J Am Soc Bone Min Res, 26, 2498, 10.1002/jbmr.443

Galvin, 2000, A role for smad6 in development and homeostasis of the cardiovascular system, Nat Genet, 24, 171, 10.1038/72835

Chen, 2009, Smad7 is required for the development and function of the heart, J Biol Chem, 284, 292, 10.1074/jbc.M807233200

Estrada, 2013, Smad7 regulates terminal maturation of chondrocytes in the growth plate, Dev Biol, 382, 375, 10.1016/j.ydbio.2013.08.021

Tojo, 2012, Smad7-deficient mice show growth retardation with reduced viability, J Biochem (Tokyo), 151, 621, 10.1093/jb/mvs022

Chung, 2009, Disruption of the Smad7 gene promotes renal fibrosis and inflammation in unilateral ureteral obstruction (UUO) in mice, Nephrol Dial Transpl Off Publ Eur Dial Transpl Assoc - Eur Ren Assoc, 24, 1443

Zhang, 2013, Sma- and Mad-related protein 7 (Smad7) is required for embryonic eye development in the mouse, J Biol Chem, 288, 10275, 10.1074/jbc.M112.416719

Dong, 2002, Deficient Smad7 expression: a putative molecular defect in scleroderma, Proc Natl Acad Sci U S A, 99, 3908, 10.1073/pnas.062010399

Li, 2006, Deletion of exon I of SMAD7 in mice results in altered B cell responses, J Immunol Balt Md, 176, 6777

Kleiter, 2010, Smad7 in T cells drives T helper 1 responses in multiple sclerosis and experimental autoimmune encephalomyelitis, Brain J Neurol, 133, 1067, 10.1093/brain/awq039

Mishina, 1995, Bmpr encodes a type I bone morphogenetic protein receptor that is essential for gastrulation during mouse embryogenesis, Genes Dev, 9, 3027, 10.1101/gad.9.24.3027

Park, 2006, Bone morphogenetic protein receptor 1A signaling is dispensable for hematopoietic development but essential for vessel and atrioventricular endocardial cushion formation, Dev Camb Engl, 133, 3473

Sun, 2007, Deficient Alk3-mediated BMP signaling causes prenatal omphalocele-like defect, Biochem Biophys Res Commun, 360, 238, 10.1016/j.bbrc.2007.06.049

Kamiya, 2008, BMP signaling negatively regulates bone mass through sclerostin by inhibiting the canonical Wnt pathway, Dev Camb Engl, 135, 3801

Jing, 2013, BMP receptor 1A determines the cell fate of the postnatal growth plate, Int J Biol Sci, 9, 895, 10.7150/ijbs.7508

Steinbicker, 2011, Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice, Blood, 118, 4224, 10.1182/blood-2011-03-339952

Gaussin, 2002, Endocardial cushion and myocardial defects after cardiac myocyte-specific conditional deletion of the bone morphogenetic protein receptor ALK3, Proc Natl Acad Sci U S A, 99, 2878, 10.1073/pnas.042390499

Gaussin, 2005, Alk3/Bmpr1a receptor is required for development of the atrioventricular canal into valves and annulus fibrosus, Circ Res, 97, 219, 10.1161/01.RES.0000177862.85474.63

Song, 2007, Essential functions of Alk3 during AV cushion morphogenesis in mouse embryonic hearts, Dev Biol, 301, 276, 10.1016/j.ydbio.2006.08.004

El-Bizri, 2008, SM22alpha-targeted deletion of bone morphogenetic protein receptor 1A in mice impairs cardiac and vascular development, and influences organogenesis, Dev Camb Engl, 135, 2981

El-Bizri, 2008, Smooth muscle protein 22alpha-mediated patchy deletion of Bmpr1a impairs cardiac contractility but protects against pulmonary vascular remodeling, Circ Res, 102, 380, 10.1161/CIRCRESAHA.107.161059

Eblaghie, 2006, Evidence that autocrine signaling through Bmpr1a regulates the proliferation, survival and morphogenetic behavior of distal lung epithelial cells, Dev Biol, 291, 67, 10.1016/j.ydbio.2005.12.006

Sun, 2008, Prenatal lung epithelial cell-specific abrogation of Alk3-bone morphogenetic protein signaling causes neonatal respiratory distress by disrupting distal airway formation, Am J Pathol, 172, 571, 10.2353/ajpath.2008.070286

Hartwig, 2008, BMP receptor ALK3 controls collecting system development, J Am Soc Nephrol JASN, 19, 117, 10.1681/ASN.2007010080

Peng, 2012, BMP receptor 1A regulates development of hypothalamic circuits critical for feeding behavior, J Neurosci Off J Soc Neurosci, 32, 17211, 10.1523/JNEUROSCI.2484-12.2012

Zhao, 2012, Mutually inductive interactions between the lens and retina require ALK3 functions during mouse embryonic development, Int J Ophthalmol, 5, 119

Wu, 2012, Mullerian inhibiting substance recruits ALK3 to regulate Leydig cell differentiation, Endocrinology, 153, 4929, 10.1210/en.2012-1168

Edson, 2010, Granulosa cell-expressed BMPR1A and BMPR1B have unique functions in regulating fertility but act redundantly to suppress ovarian tumor development, Mol Endocrinol Balt Md, 24, 1251, 10.1210/me.2009-0461

Liu, 2005, Distinct functions for Bmp signaling in lip and palate fusion in mice, Dev Camb Engl, 132, 1453

Yuhki, 2004, BMPR1A signaling is necessary for hair follicle cycling and hair shaft differentiation in mice, Dev Camb Engl, 131, 1825

Yang, 2013, Cessation of epithelial Bmp signaling switches the differentiation of crown epithelia to the root lineage in a β-catenin-dependent manner, Mol Cell Biol, 33, 4732, 10.1128/MCB.00456-13

Yi, 2000, The type I BMP receptor BMPRIB is required for chondrogenesis in the mouse limb, Dev Camb Engl, 127, 621

Liu, 2003, BMP receptor 1b is required for axon guidance and cell survival in the developing retina, Dev Biol, 256, 34, 10.1016/S0012-1606(02)00115-X

Yi, 2001, The type I BMP receptor BmprIB is essential for female reproductive function, Proc Natl Acad Sci U S A, 98, 7994, 10.1073/pnas.141002798

Komatsu, 2007, BMP type I receptor ALK2 is essential for proper patterning at late gastrulation during mouse embryogenesis, Dev Dyn Off Publ Am Assoc Anat, 236, 512

Rajagopal, 2008, Functions of the type 1 BMP receptor Acvr1 (Alk2) in lens development: cell proliferation, terminal differentiation, and survival, Invest Ophthalmol Vis Sci, 49, 4953, 10.1167/iovs.08-2217

Dudas, 2004, Craniofacial defects in mice lacking BMP type I receptor Alk2 in neural crest cells, Mech Dev, 121, 173, 10.1016/j.mod.2003.12.003

Kaartinen, 2004, Cardiac outflow tract defects in mice lacking ALK2 in neural crest cells, Dev Camb Engl, 131, 3481

Wang, 2005, Atrioventricular cushion transformation is mediated by ALK2 in the developing mouse heart, Dev Biol, 286, 299, 10.1016/j.ydbio.2005.07.035

Thomas, 2012, Deficient signaling via Alk2 (Acvr1) leads to bicuspid aortic valve development, PloS One, 7, e35539, 10.1371/journal.pone.0035539

Clementi, 2013, Activin-like kinase 2 functions in peri-implantation uterine signaling in mice and humans, PLoS Genet, 9, e1003863, 10.1371/journal.pgen.1003863

Nagashima, 2013, BMPR2 is required for postimplantation uterine function and pregnancy maintenance, J Clin Invest, 123, 2539, 10.1172/JCI65710

Beppu, 2000, BMP type II receptor is required for gastrulation and early development of mouse embryos, Dev Biol, 221, 249, 10.1006/dbio.2000.9670

Beppu, 2009, BMP type II receptor regulates positioning of outflow tract and remodeling of atrioventricular cushion during cardiogenesis, Dev Biol, 331, 167, 10.1016/j.ydbio.2009.04.032

Beppu, 2004, BMPR-II heterozygous mice have mild pulmonary hypertension and an impaired pulmonary vascular remodeling response to prolonged hypoxia, Am J Physiol Lung Cell Mol Physiol, 287, L1241, 10.1152/ajplung.00239.2004

West, 2008, Mice expressing BMPR2R899X transgene in smooth muscle develop pulmonary vascular lesions, Am J Physiol Lung Cell Mol Physiol, 295, L744, 10.1152/ajplung.90255.2008

Hong, 2008, Genetic ablation of the BMPR2 gene in pulmonary endothelium is sufficient to predispose to pulmonary arterial hypertension, Circulation, 118, 722, 10.1161/CIRCULATIONAHA.107.736801

Matzuk, 1995, Different phenotypes for mice deficient in either activins or activin receptor type II, Nature, 374, 356, 10.1038/374356a0

Ma, 2005, Impaired male sexual behavior in activin receptor type II knockout mice, Biol Reprod, 73, 1182, 10.1095/biolreprod.105.043794

Wreford, 2001, Analysis of the testicular phenotype of the follicle-stimulating hormone beta-subunit knockout and the activin type II receptor knockout mice by stereological analysis, Endocrinology, 142, 2916, 10.1210/endo.142.7.8230

Oh, 1997, The signaling pathway mediated by the type IIB activin receptor controls axial patterning and lateral asymmetry in the mouse, Genes Dev, 11, 1812, 10.1101/gad.11.14.1812

Storm, 1996, Joint patterning defects caused by single and double mutations in members of the bone morphogenetic protein (BMP) family, Dev Camb Engl, 122, 3969

Williams, 2012, Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2, Am J Med Genet A, 158A, 2616, 10.1002/ajmg.a.35594

Suazo, 2011, Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population, BMC Med Genet, 12, 163, 10.1186/1471-2350-12-163

Kaplan, 2008, Fibrodysplasia ossificans progressiva, Best Pract Res Clin Rheumatol, 22, 191, 10.1016/j.berh.2007.11.007

Kaplan, 2009, Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1, Hum Mutat, 30, 379, 10.1002/humu.20868

Ohte, 2011, A novel mutation of ALK2, L196P, found in the most benign case of fibrodysplasia ossificans progressiva activates BMP-specific intracellular signaling equivalent to a typical mutation, R206H, Biochem Biophys Res Commun, 407, 213, 10.1016/j.bbrc.2011.03.001

Fukuda, 2008, A unique mutation of ALK2, G356D, found in a patient with fibrodysplasia ossificans progressiva is a moderately activated BMP type I receptor, Biochem Biophys Res Commun, 377, 905, 10.1016/j.bbrc.2008.10.093

Bagarova, 2013, Constitutively active ALK2 receptor mutants require type II receptor cooperation, Mol Cell Biol, 33, 2413, 10.1128/MCB.01595-12

Le, 2012, Hyperactive BMP signaling induced by ALK2(R206H) requires type II receptor function in a Drosophila model for classic fibrodysplasia ossificans progressiva, Dev Dyn Off Publ Am Assoc Anat, 241, 200

Chaikuad, 2012, Structure of the bone morphogenetic protein receptor ALK2 and implications for fibrodysplasia ossificans progressiva, J Biol Chem, 287, 36990, 10.1074/jbc.M112.365932

Shen, 2009, The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization, J Clin Invest, 119, 3462

Song, 2010, Molecular consequences of the ACVR1(R206H) mutation of fibrodysplasia ossificans progressiva, J Biol Chem, 285, 22542, 10.1074/jbc.M109.094557

Fiori, 2006, Dysregulation of the BMP-p38 MAPK signaling pathway in cells from patients with fibrodysplasia ossificans progressiva (FOP), J Bone Min Res Off J Am Soc Bone Min Res, 21, 902, 10.1359/jbmr.060215

Yu, 2008, BMP type I receptor inhibition reduces heterotopic [corrected] ossification, Nat Med, 14, 1363, 10.1038/nm.1888

Sanvitale, 2013, A new class of small molecule inhibitor of BMP signaling, PloS One, 8, e62721, 10.1371/journal.pone.0062721

Shi, 2013, Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva, PloS One, 8, e69096, 10.1371/journal.pone.0069096

Marini, 2013, New genes in bone development: what’s new in osteogenesis imperfecta, J Clin Endocrinol Metab, 98, 3095, 10.1210/jc.2013-1505

Martínez-Glez, 2012, Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta, Hum Mutat, 33, 343, 10.1002/humu.21647

Hopkins, 2007, The bone morphogenetic protein 1/Tolloid-like metalloproteinases, Matrix Biol J Int Soc Matrix Biol, 26, 508, 10.1016/j.matbio.2007.05.004

Asharani, 2012, Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish, Am J Hum Genet, 90, 661, 10.1016/j.ajhg.2012.02.026

Wilkins, 2009, Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis, BMC Med Genet, 10, 141, 10.1186/1471-2350-10-141

Southam, 2004, Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13, Arthritis Rheum, 50, 3910, 10.1002/art.20634

Miyamoto, 2007, A functional polymorphism in the 5’ UTR of GDF5 is associated with susceptibility to osteoarthritis, Nat Genet, 39, 529, 10.1038/2005

Nakase, 2003, Localization of bone morphogenetic protein-2 in human osteoarthritic cartilage and osteophyte, Osteoarthr Cartil OARS Osteoarthr Res Soc, 11, 278, 10.1016/S1063-4584(03)00004-9

Papathanasiou, 2012, Bone morphogenetic protein-2-induced Wnt/β-catenin signaling pathway activation through enhanced low-density-lipoprotein receptor-related protein 5 catabolic activity contributes to hypertrophy in osteoarthritic chondrocytes, Arthritis Res Ther, 14, R82, 10.1186/ar3805

Albilia, 2013, Serum levels of BMP-2, 4, 7 and AHSG in patients with degenerative joint disease requiring total arthroplasty of the hip and temporomandibular joints, J Orthop Res Off Publ Orthop Res Soc, 31, 44, 10.1002/jor.22182

Bijsterbosch, 2013, Association study of candidate genes for the progression of hand osteoarthritis, Osteoarthr Cartil OARS Osteoarthr Res Soc, 21, 565, 10.1016/j.joca.2013.01.011

Badlani, 2009, Use of bone morphogenic protein-7 as a treatment for osteoarthritis, Clin Orthop, 467, 3221, 10.1007/s11999-008-0569-9

Hayashi, 2010, Intra-articular injections of bone morphogenetic protein-7 retard progression of existing cartilage degeneration, J Orthop Res Off Publ Orthop Res Soc, 28, 1502, 10.1002/jor.21165

Hunter, 2010, Phase 1 safety and tolerability study of BMP-7 in symptomatic knee osteoarthritis, BMC Musculoskelet Disord, 11

Srinivasan, 2012, Injectable perlecan domain 1-hyaluronan microgels potentiate the cartilage repair effect of BMP2 in a murine model of early osteoarthritis, Biomed Mater Bristol Engl, 7, 024109, 10.1088/1748-6041/7/2/024109

Winbanks, 2013, The bone morphogenetic protein axis is a positive regulator of skeletal muscle mass, J Cell Biol, 203, 345, 10.1083/jcb.201211134

Le Goff, 2012, Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome, Nat Genet, 44, 85, 10.1038/ng.1016

Batts, 2006, Bmp signaling is required for intestinal growth and morphogenesis, Dev Dyn Off Publ Am Assoc Anat, 235, 1563

Torihashi, 2009, The expression and crucial roles of BMP signaling in development of smooth muscle progenitor cells in the mouse embryonic gut, Differ Res Biol Divers, 77, 277, 10.1016/j.diff.2008.10.003

Maloum, 2011, Epithelial BMP signaling is required for proper specification of epithelial cell lineages and gastric endocrine cells, Am J Physiol Gastrointest Liver Physiol, 300, G1065, 10.1152/ajpgi.00176.2010

Castillo, 2012, Activation of the BMP4 pathway and early expression of CDX2 characterize non-specialized columnar metaplasia in a human model of Barrett’s esophagus, J Gastrointest Surg Off J Soc Surg Aliment Tract, 16, 227, 10.1007/s11605-011-1758-5

Milano, 2007, Bone morphogenetic protein 4 expressed in esophagitis induces a columnar phenotype in esophageal squamous cells, Gastroenterology, 132, 2412, 10.1053/j.gastro.2007.03.026

Yamanaka, 2011, Expression of Sonic hedgehog (SHH) and CDX2 in the columnar epithelium of the lower oesophagus, Dig Liver Dis Off J Ital Soc Gastroenterol Ital Assoc Study Liver, 43, 54

Wang, 2010, Aberrant epithelial-mesenchymal Hedgehog signaling characterizes Barrett’s metaplasia, Gastroenterology, 138, 1810, 10.1053/j.gastro.2010.01.048

Van Baal, 2013, microRNA-145 in Barrett's oesophagus: regulating BMP4 signalling via GATA6, Gut, 62, 664, 10.1136/gutjnl-2011-301061

Jee, 2013, A novel germline mutation in exon 10 of the SMAD4 gene in a familial juvenile polyposis, Gut Liver, 7, 747, 10.5009/gnl.2013.7.6.747

Howe, 1998, Mutations in the SMAD4/DPC4 gene in juvenile polyposis, Science, 280, 1086, 10.1126/science.280.5366.1086

Howe, 2001, Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis, Nat Genet, 28, 184, 10.1038/88919

Carr, 2012, Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling, J Surg Res, 174, 211, 10.1016/j.jss.2011.11.008

Howe, 2013, BMPR1A mutations in juvenile polyposis affect cellular localization, J Surg Res, 184, 739, 10.1016/j.jss.2013.01.015

Septer, 2013, Aggressive juvenile polyposis in children with chromosome 10q23 deletion, World J Gastroenterol WJG, 19, 2286, 10.3748/wjg.v19.i14.2286

Chau, 2012, A crucial role for bone morphogenetic protein-Smad1 signalling in the DNA damage response, Nat Commun, 3

Kodach, 2008, The bone morphogenetic protein pathway is inactivated in the majority of sporadic colorectal cancers, Gastroenterology, 134, 1332, 10.1053/j.gastro.2008.02.059

Yokoe, 2007, Clinical significance of growth differentiation factor 11 in colorectal cancer, Int J Oncol, 31, 1097

Zou, 2007, Highly methylated genes in colorectal neoplasia: implications for screening, Cancer Epidemiol Biomark Prev Publ Am Assoc Cancer Res Cosponsored Am Soc Prev Oncol, 16, 2686, 10.1158/1055-9965.EPI-07-0518

Kisiel, 2012, Stool DNA testing for the detection of pancreatic cancer: assessment of methylation marker candidates, Cancer, 118, 2623, 10.1002/cncr.26558

Loh, 2008, Bone morphogenic protein 3 inactivation is an early and frequent event in colorectal cancer development, Genes Chromosom Cancer, 47, 449, 10.1002/gcc.20552

Slattery, 2012, Genetic variation in bone morphogenetic protein and colon and rectal cancer, Int J Cancer J Int Cancer, 130, 653, 10.1002/ijc.26047

Kim, 2001, Bmp6 and Bmp7 are required for cushion formation and septation in the developing mouse heart, Dev Biol, 235, 449, 10.1006/dbio.2001.0284

Cai, 2012, BMP signaling in vascular diseases, FEBS Lett, 586, 1993, 10.1016/j.febslet.2012.04.030

Cogan, 2012, Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance, Circulation, 126, 1907, 10.1161/CIRCULATIONAHA.112.106245

Liu, 2012, BMPR2 mutations influence phenotype more obviously in male patients with pulmonary arterial hypertension, Circ Cardiovasc Genet, 5, 511, 10.1161/CIRCGENETICS.111.962209

Jiang, 2011, Trapping of BMP receptors in distinct membrane domains inhibits their function in pulmonary arterial hypertension, Am J Physiol Lung Cell Mol Physiol, 301, L218, 10.1152/ajplung.00300.2010

Johnson, 2012, Cytoskeletal defects in Bmpr2-associated pulmonary arterial hypertension, Am J Physiol Lung Cell Mol Physiol, 302, L474, 10.1152/ajplung.00202.2011

Yu, 2005, Bone morphogenetic protein (BMP) type II receptor deletion reveals BMP ligand-specific gain of signaling in pulmonary artery smooth muscle cells, J Biol Chem, 280, 24443, 10.1074/jbc.M502825200

Dewachter, 2009, Bone morphogenetic protein signalling in heritable versus idiopathic pulmonary hypertension, Eur Respir J, 34, 1100, 10.1183/09031936.00183008

Upton, 2013, Transforming growth factor-β(1) represses bone morphogenetic protein-mediated Smad signaling in pulmonary artery smooth muscle cells via Smad3, Am J Respir Cell Mol Biol, 49, 1135, 10.1165/rcmb.2012-0470OC

Drake, 2011, Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8, Am J Respir Crit Care Med, 184, 1400, 10.1164/rccm.201106-1130OC

Harrison, 2003, Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia, J Med Genet, 40, 865, 10.1136/jmg.40.12.865

Abdalla, 2004, Primary pulmonary hypertension in families with hereditary haemorrhagic telangiectasia, Eur Respir J, 23, 373, 10.1183/09031936.04.00085504

Yang, 2013, Sildenafil potentiates bone morphogenetic protein signaling in pulmonary arterial smooth muscle cells and in experimental pulmonary hypertension, Arterioscler Thromb Vasc Biol, 33, 34, 10.1161/ATVBAHA.112.300121

Yang, 2013, Id proteins are critical downstream effectors of BMP signaling in human pulmonary arterial smooth muscle cells, Am J Physiol Lung Cell Mol Physiol, 305, L312, 10.1152/ajplung.00054.2013

Drake, 2013, Correction of nonsense BMPR2 and SMAD9 mutations by ataluren in pulmonary arterial hypertension, Am J Respir Cell Mol Biol, 49, 403, 10.1165/rcmb.2013-0100OC

Teekakirikul, 2013, Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations, Am J Med Genet A, 161A, 185, 10.1002/ajmg.a.35659

Ricard, 2010, Functional analysis of the BMP9 response of ALK1 mutants from HHT2 patients: a diagnostic tool for novel ACVRL1 mutations, Blood, 116, 1604, 10.1182/blood-2010-03-276881

Choi, 2013, Enhanced responses to angiogenic cues underlie the pathogenesis of hereditary hemorrhagic telangiectasia 2, PloS One, 8, e63138, 10.1371/journal.pone.0063138

Mitchell, 2010, ALK1-Fc inhibits multiple mediators of angiogenesis and suppresses tumor growth, Mol Cancer Ther, 9, 379, 10.1158/1535-7163.MCT-09-0650

Tabatabaeifar, 2009, Functional analysis of BMP4 mutations identified in pediatric CAKUT patients, Pediatr Nephrol Berl Ger, 24, 2361, 10.1007/s00467-009-1287-6

Weber, 2008, SIX2 and BMP4 mutations associate with anomalous kidney development, J Am Soc Nephrol JASN, 19, 891, 10.1681/ASN.2006111282

Schild, 2013, Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia, Nephrol Dial Transpl Off Publ Eur Dial Transpl Assoc - Eur Ren Assoc, 28, 227

Morgan, 2003, Loss of Bmp7 and Fgf8 signaling in Hoxa13-mutant mice causes hypospadia, Dev Camb Engl, 130, 3095

Chen, 2007, Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias, Eur J Hum Genet EJHG, 15, 23, 10.1038/sj.ejhg.5201722

He, 2012, Mutation screening of BMP4 and Id2 genes in Chinese patients with congenital ureteropelvic junction obstruction, Eur J Pediatr, 171, 451, 10.1007/s00431-011-1561-z

Tripathi, 2012, Absence of canonical Smad signaling in ureteral and bladder mesenchyme causes ureteropelvic junction obstruction, J Am Soc Nephrol JASN, 23, 618, 10.1681/ASN.2011060566

Wetzel, 2006, Bone morphogenetic protein-7 expression and activity in the human adult normal kidney is predominantly localized to the distal nephron, Kidney Int, 70, 717, 10.1038/sj.ki.5001653

Mitu, 2008, Bone morphogenetic protein-7 (BMP7) in chronic kidney disease, Front Biosci J Virtual Libr, 13, 4726, 10.2741/3035

Bramlage, 2010, Bone morphogenetic protein (BMP)-7 expression is decreased in human hypertensive nephrosclerosis, BMC Nephrol, 11, 31, 10.1186/1471-2369-11-31

Bramlage, 2011, The role of bone morphogenetic protein-5 (BMP-5) in human nephrosclerosis, J Nephrol, 24, 647, 10.5301/JN.2011.6330

Graw, 2010, Eye development, Curr Top Dev Biol, 90, 343, 10.1016/S0070-2153(10)90010-0

Wyatt, 2010, Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies, Hum Mutat, 31, 781, 10.1002/humu.21280

Takenouchi, 2013, Concurrent deletion of BMP4 and OTX2 genes, two master genes in ophthalmogenesis, Eur J Med Genet, 56, 50, 10.1016/j.ejmg.2012.10.007

Bakrania, 2008, Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways, Am J Hum Genet, 82, 304, 10.1016/j.ajhg.2007.09.023

Hayashi, 2008, Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly, Am J Med Genet A, 146A, 2905, 10.1002/ajmg.a.32519

Reis, 2011, BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome, Hum Genet, 130, 495, 10.1007/s00439-011-0968-y

Huang, 2009, BMP signaling pathway is required for commitment of C3H10T1/2 pluripotent stem cells to the adipocyte lineage, Proc Natl Acad Sci U S A, 106, 12670, 10.1073/pnas.0906266106

Elsen, 2014, BMP4 and BMP7 induce the white-to-brown transition of primary human adipose stem cells, Am J Physiol Cell Physiol, 306, C431, 10.1152/ajpcell.00290.2013

Böttcher, 2009, Adipose tissue expression and genetic variants of the bone morphogenetic protein receptor 1A gene (BMPR1A) are associated with human obesity, Diabetes, 58, 2119, 10.2337/db08-1458

Schleinitz, 2011, Genetic and evolutionary analyses of the human bone morphogenetic protein receptor 2 (BMPR2) in the pathophysiology of obesity, PloS One, 6, e16155, 10.1371/journal.pone.0016155

Townsend, 2012, Bone morphogenetic protein 7 (BMP7) reverses obesity and regulates appetite through a central mTOR pathway, FASEB J Off Publ Fed Am Soc Exp Biol, 26, 2187