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For: Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest 2005;115:2373-81. [PMID: 16127465 PMCID: PMC1190374 DOI: 10.1172/jci25118] [Citation(s) in RCA: 160] [Impact Index Per Article: 8.0] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2005] [Accepted: 06/21/2005] [Indexed: 01/12/2023]  Open
Number Cited by Other Article(s)
1
Woods JP, Rackley A, Kwon HR, Olson LE. PDGFRα signaling regulates cartilage and fibrous tissue differentiation during synovial joint development. Nat Commun 2025;16:4041. [PMID: 40301343 PMCID: PMC12041487 DOI: 10.1038/s41467-025-59207-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/05/2024] [Accepted: 04/14/2025] [Indexed: 05/01/2025]  Open
2
Hatzikotoulas K, Southam L, Stefansdottir L, Boer CG, McDonald ML, Pett JP, Park YC, Tuerlings M, Mulders R, Barysenka A, Arruda AL, Tragante V, Rocco A, Bittner N, Chen S, Horn S, Srinivasasainagendra V, To K, Katsoula G, Kreitmaier P, Tenghe AMM, Gilly A, Arbeeva L, Chen LG, de Pins AM, Dochtermann D, Henkel C, Höijer J, Ito S, Lind PA, Lukusa-Sawalena B, Minn AKK, Mola-Caminal M, Narita A, Nguyen C, Reimann E, Silberstein MD, Skogholt AH, Tiwari HK, Yau MS, Yue M, Zhao W, Zhou JJ, Alexiadis G, Banasik K, Brunak S, Campbell A, Cheung JTS, Dowsett J, Faquih T, Faul JD, Fei L, Fenstad AM, Funayama T, Gabrielsen ME, Gocho C, Gromov K, Hansen T, Hudjashov G, Ingvarsson T, Johnson JS, Jonsson H, Kakehi S, Karjalainen J, Kasbohm E, Lemmelä S, Lin K, Liu X, Loef M, Mangino M, McCartney D, Millwood IY, Richman J, Roberts MB, Ryan KA, Samartzis D, Shivakumar M, Skou ST, Sugimoto S, Suzuki K, Takuwa H, Teder-Laving M, Thomas L, Tomizuka K, Turman C, Weiss S, Wu TT, Zengini E, Zhang Y, Ferreira MAR, Babis G, Baras A, Barker T, Carey DJ, Cheah KSE, Chen Z, Cheung JPY, Daly M, de Mutsert R, Eaton CB, et alHatzikotoulas K, Southam L, Stefansdottir L, Boer CG, McDonald ML, Pett JP, Park YC, Tuerlings M, Mulders R, Barysenka A, Arruda AL, Tragante V, Rocco A, Bittner N, Chen S, Horn S, Srinivasasainagendra V, To K, Katsoula G, Kreitmaier P, Tenghe AMM, Gilly A, Arbeeva L, Chen LG, de Pins AM, Dochtermann D, Henkel C, Höijer J, Ito S, Lind PA, Lukusa-Sawalena B, Minn AKK, Mola-Caminal M, Narita A, Nguyen C, Reimann E, Silberstein MD, Skogholt AH, Tiwari HK, Yau MS, Yue M, Zhao W, Zhou JJ, Alexiadis G, Banasik K, Brunak S, Campbell A, Cheung JTS, Dowsett J, Faquih T, Faul JD, Fei L, Fenstad AM, Funayama T, Gabrielsen ME, Gocho C, Gromov K, Hansen T, Hudjashov G, Ingvarsson T, Johnson JS, Jonsson H, Kakehi S, Karjalainen J, Kasbohm E, Lemmelä S, Lin K, Liu X, Loef M, Mangino M, McCartney D, Millwood IY, Richman J, Roberts MB, Ryan KA, Samartzis D, Shivakumar M, Skou ST, Sugimoto S, Suzuki K, Takuwa H, Teder-Laving M, Thomas L, Tomizuka K, Turman C, Weiss S, Wu TT, Zengini E, Zhang Y, Ferreira MAR, Babis G, Baras A, Barker T, Carey DJ, Cheah KSE, Chen Z, Cheung JPY, Daly M, de Mutsert R, Eaton CB, Erikstrup C, Furnes ON, Golightly YM, Gudbjartsson DF, Hailer NP, Hayward C, Hochberg MC, Homuth G, Huckins LM, Hveem K, Ikegawa S, Ishijima M, Isomura M, Jones M, Kang JH, Kardia SLR, Kloppenburg M, Kraft P, Kumahashi N, Kuwata S, Lee MTM, Lee PH, Lerner R, Li L, Lietman SA, Lotta L, Lupton MK, Mägi R, Martin NG, McAlindon TE, Medland SE, Michaëlsson K, Mitchell BD, Mook-Kanamori DO, Morris AP, Nabika T, Nagami F, Nelson AE, Ostrowski SR, Palotie A, Pedersen OB, Rosendaal FR, Sakurai-Yageta M, Schmidt CO, Sham PC, Singh JA, Smelser DT, Smith JA, Song YQ, Sørensen E, Tamiya G, Tamura Y, Terao C, Thorleifsson G, Troelsen A, Tsezou A, Uchio Y, Uitterlinden AG, Ullum H, Valdes AM, van Heel DA, Walters RG, Weir DR, Wilkinson JM, Winsvold BS, Yamamoto M, Zwart JA, Stefansson K, Meulenbelt I, Teichmann SA, van Meurs JBJ, Styrkarsdottir U, Zeggini E. Translational genomics of osteoarthritis in 1,962,069 individuals. Nature 2025:10.1038/s41586-025-08771-z. [PMID: 40205036 DOI: 10.1038/s41586-025-08771-z] [Show More Authors] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/17/2024] [Accepted: 02/11/2025] [Indexed: 04/11/2025]
3
Wang W, Zhuang W, Zeng W, Feng Y, Zhang Z. Review of susceptibility genes in developmental dysplasia of the hip: A comprehensive examination of candidate genes and pathways. Clin Genet 2025;107:3-12. [PMID: 39307874 DOI: 10.1111/cge.14618] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/05/2024] [Revised: 09/03/2024] [Accepted: 09/05/2024] [Indexed: 12/18/2024]
4
Farhud DD, Zarif-Yeganeh M, Arian H, Kashi M, Rezaee T. Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type). IRANIAN JOURNAL OF PUBLIC HEALTH 2024;53:1381-1393. [PMID: 39430143 PMCID: PMC11488561] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Figures] [Subscribe] [Scholar Register] [Received: 02/10/2024] [Accepted: 04/11/2024] [Indexed: 10/22/2024]
5
Leung AOW, Poon ACH, Wang X, Feng C, Chen P, Zheng Z, To MK, Chan WCW, Cheung M, Chan D. Suppression of apoptosis impairs phalangeal joint formation in the pathogenesis of brachydactyly type A1. Nat Commun 2024;15:2229. [PMID: 38472182 PMCID: PMC10933404 DOI: 10.1038/s41467-024-45053-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/23/2021] [Accepted: 01/12/2024] [Indexed: 03/14/2024]  Open
6
Li J, Liang X, Wang X, Yang P, Jian X, Fu L, Deng A, Liu C, Liu J. A missense GDF5 variant causes brachydactyly type A1 and multiple-synostoses syndrome 2. JOR Spine 2024;7:e1302. [PMID: 38222807 PMCID: PMC10782059 DOI: 10.1002/jsp2.1302] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 07/10/2023] [Revised: 09/16/2023] [Accepted: 11/02/2023] [Indexed: 01/16/2024]  Open
7
Iacobescu GL, Iacobescu L, Popa MIG, Covache-Busuioc RA, Corlatescu AD, Cirstoiu C. Genomic Determinants of Knee Joint Biomechanics: An Exploration into the Molecular Basis of Locomotor Function, a Narrative Review. Curr Issues Mol Biol 2024;46:1237-1258. [PMID: 38392197 PMCID: PMC10888373 DOI: 10.3390/cimb46020079] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/30/2023] [Revised: 01/20/2024] [Accepted: 01/25/2024] [Indexed: 02/24/2024]  Open
8
Wu M, Wu S, Chen W, Li YP. The roles and regulatory mechanisms of TGF-β and BMP signaling in bone and cartilage development, homeostasis and disease. Cell Res 2024;34:101-123. [PMID: 38267638 PMCID: PMC10837209 DOI: 10.1038/s41422-023-00918-9] [Citation(s) in RCA: 98] [Impact Index Per Article: 98.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/26/2023] [Accepted: 12/15/2023] [Indexed: 01/26/2024]  Open
9
Grall E, Feregrino C, Fischer S, De Courten A, Sacher F, Hiscock TW, Tschopp P. Self-organized BMP signaling dynamics underlie the development and evolution of digit segmentation patterns in birds and mammals. Proc Natl Acad Sci U S A 2024;121:e2304470121. [PMID: 38175868 PMCID: PMC10786279 DOI: 10.1073/pnas.2304470121] [Citation(s) in RCA: 2] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/17/2023] [Accepted: 11/03/2023] [Indexed: 01/06/2024]  Open
10
Yang Y, Zhu G, Chen F, Zhu Y. Congenital middle radioulnar synostosis: Report of a probable subtype. J Orthop Sci 2023;28:1189-1192. [PMID: 33906816 DOI: 10.1016/j.jos.2020.12.032] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/23/2020] [Revised: 12/10/2020] [Accepted: 12/16/2020] [Indexed: 10/21/2022]
11
Turgut GT, Kalelioglu IH, Karaman V, Sarac Sivrikoz T, Karaman B, Uyguner ZO, Kalayci T. Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome. Mol Syndromol 2023;14:152-157. [PMID: 37064338 PMCID: PMC10091002 DOI: 10.1159/000527955] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/21/2022] [Accepted: 10/25/2022] [Indexed: 12/24/2022]  Open
12
Weißenberger M, Wagenbrenner M, Nickel J, Ahlbrecht R, Blunk T, Steinert AF, Gilbert F. Comparative in vitro treatment of mesenchymal stromal cells with GDF-5 and R57A induces chondrogenic differentiation while limiting chondrogenic hypertrophy. J Exp Orthop 2023;10:29. [PMID: 36943593 PMCID: PMC10030724 DOI: 10.1186/s40634-023-00594-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/28/2022] [Accepted: 03/08/2023] [Indexed: 03/23/2023]  Open
13
Shao J, Liu Y, Zhao S, Sun W, Zhan J, Cao L. A novel variant in the ROR2 gene underlying brachydactyly type B: a case report. BMC Pediatr 2022;22:528. [PMID: 36064339 PMCID: PMC9446770 DOI: 10.1186/s12887-022-03564-z] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/04/2022] [Accepted: 08/21/2022] [Indexed: 11/17/2022]  Open
14
Li Q, Bai F, Chen S. Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report. Orthop Surg 2022;14:2386-2390. [PMID: 35819086 PMCID: PMC9483038 DOI: 10.1111/os.13383] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/29/2021] [Revised: 05/16/2022] [Accepted: 06/04/2022] [Indexed: 11/26/2022]  Open
15
Takahata Y, Hagino H, Kimura A, Urushizaki M, Yamamoto S, Wakamori K, Murakami T, Hata K, Nishimura R. Regulatory Mechanisms of Prg4 and Gdf5 Expression in Articular Cartilage and Functions in Osteoarthritis. Int J Mol Sci 2022;23:ijms23094672. [PMID: 35563063 PMCID: PMC9105027 DOI: 10.3390/ijms23094672] [Citation(s) in RCA: 19] [Impact Index Per Article: 6.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/06/2022] [Revised: 04/20/2022] [Accepted: 04/21/2022] [Indexed: 02/04/2023]  Open
16
Hasenbein I, Sachse A, Hortschansky P, Schmuck KD, Horbert V, Anders C, Lehmann T, Huber R, Maslaris A, Layher F, Braun C, Roth A, Plöger F, Kinne RW. Single Application of Low-Dose, Hydroxyapatite-Bound BMP-2 or GDF-5 Induces Long-Term Bone Formation and Biomechanical Stabilization of a Bone Defect in a Senile Sheep Lumbar Osteopenia Model. Biomedicines 2022;10:513. [PMID: 35203721 PMCID: PMC8962316 DOI: 10.3390/biomedicines10020513] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/13/2022] [Revised: 02/11/2022] [Accepted: 02/14/2022] [Indexed: 12/13/2022]  Open
17
Rolfe RA, Shea CA, Murphy P. Geometric analysis of chondrogenic self-organisation of embryonic limb bud cells in micromass culture. Cell Tissue Res 2022;388:49-62. [PMID: 34988666 DOI: 10.1007/s00441-021-03564-y] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/26/2021] [Accepted: 11/19/2021] [Indexed: 11/24/2022]
18
Towler OW, Shore EM. BMP signaling and skeletal development in fibrodysplasia ossificans progressiva (FOP). Dev Dyn 2022;251:164-177. [PMID: 34133058 PMCID: PMC9068236 DOI: 10.1002/dvdy.387] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/16/2021] [Revised: 05/07/2021] [Accepted: 05/20/2021] [Indexed: 01/03/2023]  Open
19
Muthuirulan P, Zhao D, Young M, Richard D, Liu Z, Emami A, Portilla G, Hosseinzadeh S, Cao J, Maridas D, Sedlak M, Menghini D, Cheng L, Li L, Ding X, Ding Y, Rosen V, Kiapour AM, Capellini TD. Joint disease-specificity at the regulatory base-pair level. Nat Commun 2021;12:4161. [PMID: 34230488 PMCID: PMC8260791 DOI: 10.1038/s41467-021-24345-9] [Citation(s) in RCA: 21] [Impact Index Per Article: 5.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/17/2020] [Accepted: 06/16/2021] [Indexed: 02/06/2023]  Open
20
Genovesi ML, Guadagnolo D, Marchionni E, Giovannetti A, Traversa A, Panzironi N, Bernardo S, Palumbo P, Petrizzelli F, Carella M, Mazza T, Pizzuti A, Caputo V. GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations. Bone 2021;144:115803. [PMID: 33333243 DOI: 10.1016/j.bone.2020.115803] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/27/2020] [Revised: 11/09/2020] [Accepted: 12/07/2020] [Indexed: 12/12/2022]
21
Bednarek M, Trybus M, Kolanowska M, Koziej M, Kiec-Wilk B, Dobosz A, Kotlarek-Łysakowska M, Kubiak-Dydo A, Użarowska-Gąska E, Staręga-Rosłan J, Gaj P, Górzyńska I, Serwan K, Świerniak M, Kot A, Jażdżewski K, Wójcicka A. BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype. Mol Genet Genomic Med 2021;9:e1594. [PMID: 33486847 PMCID: PMC8104157 DOI: 10.1002/mgg3.1594] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/21/2020] [Revised: 12/02/2020] [Accepted: 12/15/2020] [Indexed: 12/29/2022]  Open
22
Gariballa N, Ali BR. Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives. Front Mol Biosci 2020;7:575608. [PMID: 33195419 PMCID: PMC7658374 DOI: 10.3389/fmolb.2020.575608] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/23/2020] [Accepted: 09/29/2020] [Indexed: 02/05/2023]  Open
23
Ma SKY, Chan ASF, Rubab A, Chan WCW, Chan D. Extracellular Matrix and Cellular Plasticity in Musculoskeletal Development. Front Cell Dev Biol 2020;8:781. [PMID: 32984311 PMCID: PMC7477050 DOI: 10.3389/fcell.2020.00781] [Citation(s) in RCA: 11] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/29/2020] [Accepted: 07/27/2020] [Indexed: 12/12/2022]  Open
24
Zhang M, Lu L, Wei B, Zhang Y, Li X, Shi Y, Ge W, Sun M. Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family. Am J Med Genet A 2020;182:2432-2436. [PMID: 32789964 DOI: 10.1002/ajmg.a.61788] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/26/2020] [Revised: 07/01/2020] [Accepted: 07/11/2020] [Indexed: 12/13/2022]
25
Andreasson L, Evenbratt H, Simonsson S. GDF5 induces TBX3 in a concentration dependent manner - on a gold nanoparticle gradient. Heliyon 2020;6:e04133. [PMID: 32551383 PMCID: PMC7292926 DOI: 10.1016/j.heliyon.2020.e04133] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/14/2019] [Revised: 06/03/2019] [Accepted: 06/01/2020] [Indexed: 11/19/2022]  Open
26
Specification of BMP Signaling. Cells 2019;8:cells8121579. [PMID: 31817503 PMCID: PMC6953019 DOI: 10.3390/cells8121579] [Citation(s) in RCA: 95] [Impact Index Per Article: 15.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/31/2019] [Revised: 11/29/2019] [Accepted: 12/03/2019] [Indexed: 02/06/2023]  Open
27
Ma C, Liu L, Wang FN, Tian HS, Luo Y, Yu R, Fan LL, Li YL. Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling. BMC MEDICAL GENETICS 2019;20:169. [PMID: 31694554 PMCID: PMC6836329 DOI: 10.1186/s12881-019-0917-5] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 05/16/2019] [Accepted: 10/31/2019] [Indexed: 11/10/2022]
28
Chijimatsu R, Saito T. Mechanisms of synovial joint and articular cartilage development. Cell Mol Life Sci 2019;76:3939-3952. [PMID: 31201464 PMCID: PMC11105481 DOI: 10.1007/s00018-019-03191-5] [Citation(s) in RCA: 60] [Impact Index Per Article: 10.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/11/2019] [Revised: 05/30/2019] [Accepted: 06/11/2019] [Indexed: 12/29/2022]
29
Gunnella F, Kunisch E, Horbert V, Maenz S, Bossert J, Jandt KD, Plöger F, Kinne RW. In Vitro Release of Bioactive Bone Morphogenetic Proteins (GDF5, BB-1, and BMP-2) from a PLGA Fiber-Reinforced, Brushite-Forming Calcium Phosphate Cement. Pharmaceutics 2019;11:pharmaceutics11090455. [PMID: 31484306 PMCID: PMC6781330 DOI: 10.3390/pharmaceutics11090455] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/14/2019] [Revised: 08/06/2019] [Accepted: 08/23/2019] [Indexed: 12/17/2022]  Open
30
Baghdadi T, Nejadhosseinian M, Shirkoohi R, Mostafavi Tabatabaee R, Tamehri SS, Saffari M, Mortazavi SMJ. DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH). Mol Genet Genomic Med 2019;7:e887. [PMID: 31338995 PMCID: PMC6732267 DOI: 10.1002/mgg3.887] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2019] [Revised: 06/10/2019] [Accepted: 07/05/2019] [Indexed: 01/10/2023]  Open
31
Structural characterization of an activin class ternary receptor complex reveals a third paradigm for receptor specificity. Proc Natl Acad Sci U S A 2019;116:15505-15513. [PMID: 31315975 DOI: 10.1073/pnas.1906253116] [Citation(s) in RCA: 44] [Impact Index Per Article: 7.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]  Open
32
Hildebrand L, Schmidt-von Kegler M, Walther M, Seemann P, Stange K. Limb specific Acvr1-knockout during embryogenesis in mice exhibits great toe malformation as seen in Fibrodysplasia Ossificans Progressiva (FOP). Dev Dyn 2019;248:396-403. [PMID: 30854720 PMCID: PMC6593811 DOI: 10.1002/dvdy.24] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/10/2018] [Revised: 02/25/2019] [Accepted: 03/04/2019] [Indexed: 12/28/2022]  Open
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Rux D, Decker RS, Koyama E, Pacifici M. Joints in the appendicular skeleton: Developmental mechanisms and evolutionary influences. Curr Top Dev Biol 2018;133:119-151. [PMID: 30902250 PMCID: PMC6988388 DOI: 10.1016/bs.ctdb.2018.11.002] [Citation(s) in RCA: 22] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
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Gomez-Puerto MC, Iyengar PV, García de Vinuesa A, Ten Dijke P, Sanchez-Duffhues G. Bone morphogenetic protein receptor signal transduction in human disease. J Pathol 2018;247:9-20. [PMID: 30246251 PMCID: PMC6587955 DOI: 10.1002/path.5170] [Citation(s) in RCA: 146] [Impact Index Per Article: 20.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/07/2018] [Revised: 09/03/2018] [Accepted: 09/13/2018] [Indexed: 12/23/2022]
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Rafipay A, Berg ALR, Erskine L, Vargesson N. Expression analysis of limb element markers during mouse embryonic development. Dev Dyn 2018;247:1217-1226. [PMID: 30225906 PMCID: PMC6282987 DOI: 10.1002/dvdy.24671] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/01/2018] [Revised: 08/13/2018] [Accepted: 08/29/2018] [Indexed: 12/18/2022]  Open
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Gamer LW, Pregizer S, Gamer J, Feigenson M, Ionescu A, Li Q, Han L, Rosen V. The Role of Bmp2 in the Maturation and Maintenance of the Murine Knee Joint. J Bone Miner Res 2018;33:1708-1717. [PMID: 29665134 DOI: 10.1002/jbmr.3441] [Citation(s) in RCA: 28] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/13/2018] [Revised: 03/28/2018] [Accepted: 04/05/2018] [Indexed: 12/12/2022]
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Andrade AC, Jee YH, Nilsson O. New Genetic Diagnoses of Short Stature Provide Insights into Local Regulation of Childhood Growth
. Horm Res Paediatr 2018;88:22-37. [PMID: 28334714 DOI: 10.1159/000455850] [Citation(s) in RCA: 26] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/24/2016] [Accepted: 01/03/2017] [Indexed: 12/12/2022]  Open
38
Sun J, Ermann J, Niu N, Yan G, Yang Y, Shi Y, Zou W. Histone demethylase LSD1 regulates bone mass by controlling WNT7B and BMP2 signaling in osteoblasts. Bone Res 2018;6:14. [PMID: 29707403 PMCID: PMC5916912 DOI: 10.1038/s41413-018-0015-x] [Citation(s) in RCA: 41] [Impact Index Per Article: 5.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/04/2018] [Revised: 02/03/2018] [Accepted: 03/21/2018] [Indexed: 12/22/2022]  Open
39
Travieso-Suárez L, Pereda A, Pozo-Román J, Pérez de Nanclares G, Argente J. Braquidactilia tipo C debida a mutación de parada en el gen GDF5. An Pediatr (Barc) 2018;88:107-109. [DOI: 10.1016/j.anpedi.2017.03.001] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/20/2017] [Revised: 02/27/2017] [Accepted: 03/01/2017] [Indexed: 11/30/2022]  Open
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Wang WB, Jia YC, Zhang Z, Xu J, Zuo RT, Kang QL. A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2). Gene 2018;642:110-115. [DOI: 10.1016/j.gene.2017.11.024] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/22/2017] [Revised: 10/16/2017] [Accepted: 11/08/2017] [Indexed: 10/18/2022]
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Travieso-Suárez L, Pereda A, Pozo-Román J, Pérez de Nanclares G, Argente J. Brachydactyly type C due to a nonsense mutation in the GDF5 gene. ANALES DE PEDIATRÍA (ENGLISH EDITION) 2018. [DOI: 10.1016/j.anpede.2017.03.015] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/18/2022]  Open
42
Site-specific chromosomal gene insertion: Flp recombinase versus Cas9 nuclease. Sci Rep 2017;7:17771. [PMID: 29259215 PMCID: PMC5736728 DOI: 10.1038/s41598-017-17651-0] [Citation(s) in RCA: 18] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/13/2017] [Accepted: 11/24/2017] [Indexed: 12/16/2022]  Open
43
Knock-in human GDF5 proregion L373R mutation as a mouse model for proximal symphalangism. Oncotarget 2017;8:113966-113976. [PMID: 29371961 PMCID: PMC5768378 DOI: 10.18632/oncotarget.23047] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/28/2017] [Accepted: 09/20/2017] [Indexed: 01/18/2023]  Open
44
Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Am J Hum Genet 2017;101:985-994. [PMID: 29198724 DOI: 10.1016/j.ajhg.2017.10.006] [Citation(s) in RCA: 28] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/04/2017] [Accepted: 10/11/2017] [Indexed: 12/25/2022]  Open
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MacFarlane EG, Haupt J, Dietz HC, Shore EM. TGF-β Family Signaling in Connective Tissue and Skeletal Diseases. Cold Spring Harb Perspect Biol 2017;9:cshperspect.a022269. [PMID: 28246187 DOI: 10.1101/cshperspect.a022269] [Citation(s) in RCA: 86] [Impact Index Per Article: 10.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
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Capellini TD, Chen H, Cao J, Doxey AC, Kiapour AM, Schoor M, Kingsley DM. Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk. Nat Genet 2017;49:1202-1210. [PMID: 28671685 PMCID: PMC6556117 DOI: 10.1038/ng.3911] [Citation(s) in RCA: 76] [Impact Index Per Article: 9.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/05/2015] [Accepted: 06/12/2017] [Indexed: 12/19/2022]
47
Jee YH, Andrade AC, Baron J, Nilsson O. Genetics of Short Stature. Endocrinol Metab Clin North Am 2017;46:259-281. [PMID: 28476223 PMCID: PMC5424617 DOI: 10.1016/j.ecl.2017.01.001] [Citation(s) in RCA: 36] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/23/2022]
48
Ayerst BI, Smith RAA, Nurcombe V, Day AJ, Merry CLR, Cool SM. Growth Differentiation Factor 5-Mediated Enhancement of Chondrocyte Phenotype Is Inhibited by Heparin: Implications for the Use of Heparin in the Clinic and in Tissue Engineering Applications. Tissue Eng Part A 2017;23:275-292. [PMID: 27899064 PMCID: PMC5397242 DOI: 10.1089/ten.tea.2016.0364] [Citation(s) in RCA: 25] [Impact Index Per Article: 3.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/30/2023]  Open
49
Salva JE, Merrill AE. Signaling networks in joint development. Dev Dyn 2016;246:262-274. [PMID: 27859991 DOI: 10.1002/dvdy.24472] [Citation(s) in RCA: 20] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/12/2016] [Revised: 11/09/2016] [Accepted: 11/14/2016] [Indexed: 12/21/2022]  Open
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Leonidou A, Irving M, Holden S, Katchburian M. Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family. World J Orthop 2016;7:839-842. [PMID: 28032038 PMCID: PMC5155261 DOI: 10.5312/wjo.v7.i12.839] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/13/2016] [Revised: 08/15/2016] [Accepted: 09/22/2016] [Indexed: 02/06/2023]  Open
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