Gene Symbol: GDF5
Description: growth differentiation factor 5
Alias: BDA1C, BMP-14, BMP14, CDMP1, LAP-4, LAP4, OS5, SYM1B, SYNS2, growth/differentiation factor 5, LPS-associated protein 4, bone morphogenetic protein 14, cartilage-derived morphogenetic protein-1, lipopolysaccharide-associated protein 4, radotermin
Species: human
Products:     GDF5

Top Publications

  1. Seemann P, Schwappacher R, Kjaer K, Krakow D, Lehmann K, Dawson K, et al. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest. 2005;115:2373-81 pubmed
    Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities...
  2. Valdes A, Spector T, Doherty S, Wheeler M, Hart D, Doherty M. Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations. Ann Rheum Dis. 2009;68:1916-20 pubmed publisher
    Variants in the growth differentiation factor 5 (GDF5) and in the double von Willebrand factor A (DVWA) have recently been reported to be associated with osteoarthritis (OA) in Asian populations...
  3. Williams F, Popham M, Hart D, de Schepper E, Bierma Zeinstra S, Hofman A, et al. GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women. Arthritis Rheum. 2011;63:708-12 pubmed publisher
    ..In vitro, the gene product growth differentiation factor 5 has been shown to promote growth and repair of animal disc...
  4. Upton P, Long L, Trembath R, Morrell N. Functional characterization of bone morphogenetic protein binding sites and Smad1/5 activation in human vascular cells. Mol Pharmacol. 2008;73:539-52 pubmed
    ..In both cell types, growth differentiation factor-5 (GDF5), BMP6, and BMP7 stimulated Smad1/5 phosphorylation and competed for (125)I-BMP4 less efficiently than BMP2 or BMP4...
  5. Kotzsch A, Nickel J, Seher A, Sebald W, Müller T. Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity. EMBO J. 2009;28:937-47 pubmed publisher
    ..The new structural data now provide also a molecular basis of how phenotypically relevant missense mutations in GDF-5 might impair receptor binding and activation. ..
  6. Seemann P, Brehm A, König J, Reissner C, Stricker S, Kuss P, et al. Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. PLoS Genet. 2009;5:e1000747 pubmed publisher
    ..identified two mutations (N445K,T) in patients with multiple synostosis syndrome (SYM1) in the BMP-related ligand GDF5. Functional studies of both mutants in chicken micromass culture demonstrated a gain of function caused by a ..
  7. Chang S, Hoang B, Thomas J, Vukicevic S, Luyten F, Ryba N, et al. Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development. J Biol Chem. 1994;269:28227-34 pubmed
  8. Byrnes A, Racacho L, Nikkel S, Xiao F, Macdonald H, Underhill T, et al. Mutations in GDF5 presenting as semidominant brachydactyly A1. Hum Mutat. 2010;31:1155-62 pubmed publisher
    ..Microsatellites flanking GDF5 on chromosome 20q were found to cosegregate with the disease...
  9. Liu J, Cai W, Zhang H, He C, Deng L. Rs143383 in the growth differentiation factor 5 (GDF5) gene significantly associated with osteoarthritis (OA)-a comprehensive meta-analysis. Int J Med Sci. 2013;10:312-9 pubmed publisher
    ..Several studies have shown an association between OA and Growth Differentiation Factor 5 (GDF5), some others have not. Thus, the status of the OA-GDF5 association is uncertain...

More Information


  1. Tawonsawatruk T, Changthong T, Pingsuthiwong S, Trachoo O, Sura T, Wajanavisit W. A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population. J Orthop Surg Res. 2011;6:47 pubmed publisher
    ..Recently, several studies have shown an association between Growth Differentiation Factor 5(GDF5) polymorphism and knee OA...
  2. Tsezou A, Satra M, Oikonomou P, Bargiotas K, Malizos K. The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population. J Orthop Res. 2008;26:136-40 pubmed
    ..A functional single nucleotide polymorphism (SNP) +104T/C; rs143383 in the 5' UTR of the GDF5 gene was recently associated with susceptibility to osteoarthritis in the Japanese and Chinese population...
  3. Kasten P, Beyen I, Bormann D, Luginbühl R, Plöger F, Richter W. The effect of two point mutations in GDF-5 on ectopic bone formation in a beta-tricalciumphosphate scaffold. Biomaterials. 2010;31:3878-84 pubmed publisher
    ..Mutant GDF-5 thus represents a promising new GDF-5 variant for bone regeneration possibly acting via an increased binding affinity to the BMP-type I receptor. ..
  4. Schwaerzer G, Hiepen C, Schrewe H, Nickel J, Ploeger F, Sebald W, et al. New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance. J Bone Miner Res. 2012;27:429-42 pubmed publisher
    Growth and differentiation factor 5 (GDF5), a member of the bone morphogenetic protein (BMP) family, is essential for cartilage, bone, and joint formation...
  5. Evangelou E, Chapman K, Meulenbelt I, Karassa F, Loughlin J, Carr A, et al. Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand. Arthritis Rheum. 2009;60:1710-21 pubmed publisher
    b>GDF5 and FRZB have been proposed as genetic loci conferring susceptibility to osteoarthritis (OA); however, the results of several studies investigating the association of OA with the rs143383 polymorphism of the GDF5 gene or the rs7775 ..
  6. Egli R, Southam L, Wilkins J, Lorenzen I, Pombo Suarez M, Gonzalez A, et al. Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis Rheum. 2009;60:2055-64 pubmed publisher
    Single-nucleotide polymorphism (SNP) rs143383 (T to C) in the 5'-untranslated region (5'-UTR) of GDF5 has recently been reported to be associated with osteoarthritis (OA) susceptibility, with lower expression of the risk-associated T ..
  7. Thomas J, Lin K, Nandedkar M, Camargo M, Cervenka J, Luyten F. A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. Nat Genet. 1996;12:315-7 pubmed
    ..The resulting phenotype provides direct evidence for the involvement of CDMP-1 in human skeletal development and represents the first human disorder attributable to a mutation in a TGF-beta superfamily member. ..
  8. Vaes R, Rivadeneira F, Kerkhof J, Hofman A, Pols H, Uitterlinden A, et al. Genetic variation in the GDF5 region is associated with osteoarthritis, height, hip axis length and fracture risk: the Rotterdam study. Ann Rheum Dis. 2009;68:1754-60 pubmed publisher
    A polymorphism (rs143383; T to C) near the GDF5 gene has been associated with height and osteoarthritis (OA), but debate exists about whether its primary biological action is directed to cartilage or bone...
  9. Syddall C, Reynard L, Young D, Loughlin J. The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383. PLoS Genet. 2013;9:e1003557 pubmed publisher
    rs143383 is a C to T transition SNP located in the 5'untranslated region (5'UTR) of the growth differentiation factor 5 gene GDF5...
  10. Erlacher L, McCartney J, Piek E, ten Dijke P, Yanagishita M, Oppermann H, et al. Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis. J Bone Miner Res. 1998;13:383-92 pubmed
    ..Our data show that distinct members of the BMP family differentially regulate the progression in the osteogenic lineage, and this may be due to their selective affinity for specific receptor complexes. ..
  11. Southam L, Rodriguez Lopez J, Wilkins J, Pombo Suarez M, Snelling S, Gomez Reino J, et al. An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. Hum Mol Genet. 2007;16:2226-32 pubmed
    A compelling genetic association with osteoarthritis (OA) of a functional SNP (rs143383, T/C) in the 5'-UTR of the GDF5 gene was recently reported in case-control cohorts from Japan and China. GDF5 is a pro-chondrogenic growth factor...
  12. Sanna S, Jackson A, Nagaraja R, Willer C, Chen W, Bonnycastle L, et al. Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet. 2008;40:198-203 pubmed publisher
    ..We show that common variants in the osteoarthritis-associated locus GDF5-UQCC contribute to variation in height with an estimated additive effect of 0.44 cm (overall P < 10(-15))...
  13. Dodd A, Syddall C, Loughlin J. A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression. Eur J Hum Genet. 2013;21:517-21 pubmed publisher
    ..The SNP resides within the 5'-UTR of the growth and differentiation factor 5 gene (GDF5), with the OA-associated T-allele mediating reduced GDF5 expression...
  14. Chapman K, Takahashi A, Meulenbelt I, Watson C, Rodriguez Lopez J, Egli R, et al. A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility. Hum Mol Genet. 2008;17:1497-504 pubmed publisher
    ..evidence for a positive association between a functional single-nucleotide polymorphism (SNP) in the 5'-UTR of GDF5 (+104T/C; rs143383) and osteoarthritis (OA) in European and Asian populations...
  15. Nishitoh H, Ichijo H, Kimura M, Matsumoto T, Makishima F, Yamaguchi A, et al. Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5. J Biol Chem. 1996;271:21345-52 pubmed
    ..These results suggest that BMPR-IB mediates certain signals for GDF-5 after forming the heteromeric complex with BMPR-II or ActR-II. ..
  16. Shin M, Lee S, Kee S, Song S, Kweon S, Park D, et al. Genetic association analysis of GDF5 and ADAM12 for knee osteoarthritis. Joint Bone Spine. 2012;79:488-91 pubmed publisher
    ..and sixty-two subjects aged 50 years and older were assessed for OA at the knee, were genotyped with two SNPs (GDF5; rs143383 and ADAM12; rs3740199)...
  17. Schwabe G, Turkmen S, Leschik G, Palanduz S, Stöver B, Goecke T, et al. Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. Am J Med Genet A. 2004;124A:356-63 pubmed
    ..Heterozygous mutations of the cartilage derived morphogenetic protein-1 (CDMP1) resulting in a loss of function have been reported in BDC...
  18. Reynard L, Bui C, Canty Laird E, Young D, Loughlin J. Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation. Hum Mol Genet. 2011;20:3450-60 pubmed publisher
    b>GDF5 is involved in synovial joint development, maintenance and repair, and the rs143383 C/T single nucleotide polymorphism (SNP) located in the 5'UTR of GDF5 is associated, at the genome-wide significance level, with osteoarthritis ..
  19. Polinkovsky A, Robin N, Thomas J, Irons M, Lynn A, Goodman F, et al. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet. 1997;17:18-9 pubmed
  20. Dai J, Shi D, Zhu P, Qin J, Ni H, Xu Y, et al. Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study. Arthritis Res Ther. 2008;10:R126 pubmed publisher
    ..The gene growth differentiate factor 5 (GDF5) has been implicated in skeletal development and joint morphogenesis in humans and mice...
  21. Plöger F, Seemann P, Schmidt von Kegler M, Lehmann K, Seidel J, Kjaer K, et al. Brachydactyly type A2 associated with a defect in proGDF5 processing. Hum Mol Genet. 2008;17:1222-33 pubmed publisher
    ..A2 and identified a heterozygous arginine to glutamine (R380Q) substitution in the growth/differentiation factor 5 (GDF5) in all affected individuals...
  22. Luyten F. Cartilage-derived morphogenetic protein-1. Int J Biochem Cell Biol. 1997;29:1241-4 pubmed
    ..Cartilage-derived morphogenetic protein-1 (Cdmp1) and its mouse homologue growth/differentiation factor 5 (Gdf5) were discovered independently using a degenerate ..
  23. Rouault K, Scotet V, Autret S, Gaucher F, Dubrana F, Tanguy D, et al. Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population. Osteoarthritis Cartilage. 2010;18:1144-9 pubmed publisher
    ..Recently, a functional polymorphism (rs143383) of the 5'-untranslated region of GDF5 (Growth/Differentiation Factor 5) - previously reported to be associated with osteoarthritis - has been associated ..
  24. Everman D, Bartels C, Yang Y, Yanamandra N, Goodman F, Mendoza Londono J, et al. The mutational spectrum of brachydactyly type C. Am J Med Genet. 2002;112:291-6 pubmed
    Growth/differentiation factor-5 (GDF5), also known as cartilage-derived morphogenetic protein-1 (CDMP-1), is a secreted signaling molecule that participates in skeletal morphogenesis...
  25. Faiyaz Ul Haque M, Ahmad W, Wahab A, Haque S, Azim A, Zaidi S, et al. Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia. Am J Med Genet. 2002;111:31-7 pubmed
    ..Since mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene have been reported in similar acromesomelic chondrodysplasias, we examined genomic DNA from affected and ..
  26. Thomas J, Kilpatrick M, Lin K, Erlacher L, Lembessis P, Costa T, et al. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Nat Genet. 1997;17:58-64 pubmed
    ..The mutation and its proposed mechanism of action provide the first human genetic indication that composite expression patterns of different BMPs dictate limb and digit morphogenesis...
  27. Savarirayan R, White S, Goodman F, Graham J, Delatycki M, Lachman R, et al. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Am J Med Genet A. 2003;117A:136-42 pubmed
    ..e., clubfoot, short stature, spondylolysis) may also result from CDMP-1 mutation...
  28. Yang W, Cao L, Liu W, Jiang L, Sun M, Zhang D, et al. Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. J Hum Genet. 2008;53:368-74 pubmed publisher
    Growth/differentiation factor 5 (GDF5) is a secreted growth factor that plays a key regulatory role in embryonic skeletal and joint development...
  29. Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J, et al. GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet. 2006;78:708-12 pubmed
    ..In this family, polymorphic markers flanking the GDF5 locus were found to cosegregate with the disease, and sequence analysis demonstrated that affected individuals in ..
  30. Hao S, Jin Q. Association between the +104T/C polymorphism in the 5'UTR of GDF5 and susceptibility to knee osteoarthritis: a meta-analysis. Mol Med Rep. 2013;7:485-8 pubmed publisher
    Although the +104T/C polymorphism in the 5' untranslated region (UTR) of growth differentiation factor 5 (GDF5) plays a role in the pathogenesis of knee osteoarthritis, the results have been inconsistent...
  31. Faiyaz ul Haque M, Ahmad W, Zaidi S, Haque S, Teebi A, Ahmad M, et al. Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). Clin Genet. 2002;61:454-8 pubmed
    ..Mutations in the cartilage-derived morphogenetic protein 1 (CDMP1) gene have been reported in two acromesomelic chondrodysplasias (i.e...
  32. Posthumus M, Collins M, Cook J, Handley C, Ribbans W, Smith R, et al. Components of the transforming growth factor-beta family and the pathogenesis of human Achilles tendon pathology--a genetic association study. Rheumatology (Oxford). 2010;49:2090-7 pubmed publisher
    ..functional 5' untranslated region (UTR) single nucleotide polymorphisms (SNPs), the TGFB1 rs1800469 variant and the GDF5 rs143383 variant, were associated with ATP within an Australian ('AUS') and a South African ('SA') case-control ..
  33. Miyamoto Y, Mabuchi A, Shi D, Kubo T, Takatori Y, Saito S, et al. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet. 2007;39:529-33 pubmed
    ..Here, we report that the gene encoding growth differentiation factor 5 (GDF5) is associated with osteoarthritis in Asian populations...
  34. Ducy P, Karsenty G. The family of bone morphogenetic proteins. Kidney Int. 2000;57:2207-14 pubmed
    ..This review presents our current knowledge about the functions of BMPs during skeleton development as well as in many other biologic processes. ..
  35. Macpherson P, Farshi P, Goldman D. Dach2-Hdac9 signaling regulates reinnervation of muscle endplates. Development. 2015;142:4038-48 pubmed publisher
    ..skeletal muscle and appear to act, at least in part, by inhibiting denervation-dependent induction of Myog and Gdf5 gene expression...
  36. Schlegel W, Albrecht C, Eckl P, Freudenthaler H, Berger A, Vecsei V, et al. Dedifferentiation of human articular chondrocytes is associated with alterations in expression patterns of GDF-5 and its receptors. J Cell Mol Med. 2009;13:3398-404 pubmed publisher
    ..The newly synthesized proteins were detected by immunofluorescence. There is evidence from our results that dedifferentiated chondrocytes resemble the cells from the interzone in developing synovial joints. ..
  37. Margheri F, Schiavone N, Papucci L, Magnelli L, Serrati S, Chillà A, et al. GDF5 regulates TGFß-dependent angiogenesis in breast carcinoma MCF-7 cells: in vitro and in vivo control by anti-TGFß peptides. PLoS ONE. 2012;7:e50342 pubmed publisher
    ..nuclear translocation, resulting in over-expression of the pro-angiogenic growth and differentiation factor-5 (GDF5)...
  38. Liu Z, Shen J, Pu K, Katus H, Plöger F, Tiefenbacher C, et al. GDF5 and BMP2 inhibit apoptosis via activation of BMPR2 and subsequent stabilization of XIAP. Biochim Biophys Acta. 2009;1793:1819-27 pubmed publisher
    b>GDF5 and BMP2, members of the TGF-beta superfamily of growth factors, are known to regulate apoptosis in different cell types either positively or negatively...
  39. Sengle G, Charbonneau N, Ono R, Sasaki T, Alvarez J, Keene D, et al. Targeting of bone morphogenetic protein growth factor complexes to fibrillin. J Biol Chem. 2008;283:13874-88 pubmed publisher
    ..These data implicate the fibrillin microfibril network in the extracellular control of BMP signaling and demonstrate differences in how prodomains target their growth factors to the extracellular space. ..
  40. Gunel C, Bleier B, Bozkurt G, Elıyatkin N. Microarray analysis of the genes associated with osteitis in chronic rhinosinusitis. Laryngoscope. 2017;127:E85-E90 pubmed publisher
    ..b>Growth differentiation factor 5 and exostosin glycosyltransferase 1 were significantly upregulated and positively correlated with ..
  41. Takahashi H, Nakajima M, Ozaki K, Tanaka T, Kamatani N, Ikegawa S. Prediction model for knee osteoarthritis based on genetic and clinical information. Arthritis Res Ther. 2010;12:R187 pubmed publisher
    ..We genotyped risk alleles of the three susceptibility genes, asporin (ASPN), growth differentiation factor 5 (GDF5), and double von Willebrand factor A domains (DVWA) for a total of 2,158 Japanese subjects (933 ..
  42. You L, Kruse F, Pohl J, Völcker H. Bone morphogenetic proteins and growth and differentiation factors in the human cornea. Invest Ophthalmol Vis Sci. 1999;40:296-311 pubmed
  43. Trachsel C, Kämpfer U, Bechtold R, Schaller J, Schürch S. Elucidation of the disulfide bridge pattern of the recombinant human growth and differentiation factor 5 dimer and the interchain Cys/Ala mutant monomer. Anal Biochem. 2009;390:103-8 pubmed publisher
    Growth and differentiation factor 5 (GDF5) is involved in many developmental processes such as chondrogenesis and joint and bone formation...
  44. Raines A, Magella B, Adam M, Potter S. Key pathways regulated by HoxA9,10,11/HoxD9,10,11 during limb development. BMC Dev Biol. 2015;15:28 pubmed publisher
    ..In addition of the Hox mutants showed strongly altered expression of Pknox2, Zfp467, Gdf5, Bmpr1b, Dkk3, Igf1, Hand2, Shox2, Runx3, Bmp7 and Lef1, all of which have been previously shown to play important ..
  45. Ratnayake M, Tselepi M, Bloxham R, Plöger F, Reynard L, Loughlin J. A consistent and potentially exploitable response during chondrogenesis of mesenchymal stem cells from osteoarthritis patients to the protein encoded by the susceptibility gene GDF5. PLoS ONE. 2017;12:e0176523 pubmed publisher
    ..It is painful, disabling, multifactorial and polygenic. The growth differentiation factor 5 gene GDF5 was one of the first reported OA susceptibility signals that showed consistent association ..
  46. Liu W, Zhang Y, Xia P, Li S, Feng X, Gao Y, et al. MicroRNA-7 regulates IL-1?-induced extracellular matrix degeneration by targeting GDF5 in human nucleus pulposus cells. Biomed Pharmacother. 2016;83:1414-1421 pubmed publisher
    ..A dual-luciferase reporter assay was then utilized to determine whether growth differentiation factor 5 (GDF5) is a target of miR-7...
  47. Degenkolbe E, König J, Zimmer J, Walther M, Reißner C, Nickel J, et al. A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. PLoS Genet. 2013;9:e1003846 pubmed publisher
    ..such as acromesomelic chondrodysplasias to isolated forms of brachydactylies or multiple synostoses syndrome 2 (SYNS2)...
  48. Lettre G. The osteoarthritis and height GDF5 locus yields its secrets. Nat Genet. 2017;49:1165-1166 pubmed publisher
    A new study reports molecular characterization of the GDF5 locus, which is associated with osteoarthritis risk and adult height in humans...
  49. Yang D, Moon S, Lee D. Surface Modification of Titanium with BMP-2/GDF-5 by a Heparin Linker and Its Efficacy as a Dental Implant. Int J Mol Sci. 2017;18: pubmed publisher
    ..Consequently, it is suggested that Ti surface modification with the combination of hBMP-2 and hGDF-5 for the two growth factor-coated Ti implants can improve the clinical properties of implants for orthopedic and dental applications. ..
  50. Suzuki T, Honda Z. Successful treatment with infliximab of refractory rheumatoid arthritis in a male with 'GDF5 brachydactyly'. Rheumatol Int. 2007;28:201-3 pubmed
  51. Farooq M, Nakai H, Fujimoto A, Fujikawa H, Kjaer K, Baig S, et al. Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family. Hum Genet. 2013;132:1253-64 pubmed publisher
    ..Lack of secretion of a TGF-beta family member GDF5 is known to underlie some skeletal abnormalities, such as brachydactyly type C that is characterized by a huge and ..
  52. Khan S, Basit S, Khan M, Muhammad N, Ahmad W. Genetics of human isolated acromesomelic dysplasia. Eur J Med Genet. 2016;59:198-203 pubmed publisher
    ..Acromesomelic dysplasia segregates in autosomal recessive mode. Mutations in three genes (GDF5, NPR2, BMPR1B) have been reported to cause different forms of acromesomelic dysplasia...
  53. Gruber H, Hoelscher G, Ingram J, Bethea S, Hanley E. Growth and differentiation factor-5 (GDF-5) in the human intervertebral annulus cells and its modulation by IL-1ß and TNF-? in vitro. Exp Mol Pathol. 2014;96:225-9 pubmed publisher
    ..38-fold change, p=0.015). In vitro findings suggest that the degenerating disc milieu, with high proinflammatory cytokine levels, may limit expression of GDF-5, resulting in limited regenerative capacity of the intact disc. ..
  54. Nolan K, Kattamuri C, Rankin S, Read R, Zorn A, Thompson T. Structure of Gremlin-2 in Complex with GDF5 Gives Insight into DAN-Family-Mediated BMP Antagonism. Cell Rep. 2016;16:2077-2086 pubmed publisher
    ..Here, we report the structure of Grem2 bound to GDF5 at 2.9-Ã… resolution...
  55. Chen X, Zankl A, Niroomand F, Liu Z, Katus H, Jahn L, et al. Upregulation of ID protein by growth and differentiation factor 5 (GDF5) through a smad-dependent and MAPK-independent pathway in HUVSMC. J Mol Cell Cardiol. 2006;41:26-33 pubmed
    b>GDF5 (growth and differentiation factor five), a member of the TGF-beta superfamily, binds specifically to BMPR1b, BMPR2 and ACTR2a receptors forming a heterodimeric complex, thereby inducing phosphorylation of smad1, 5, 8 and ..
  56. Kotzsch A, Nickel J, Sebald W, Mueller T. Purification, crystallization and preliminary data analysis of ligand-receptor complexes of growth and differentiation factor 5 (GDF5) and BMP receptor IB (BRIB). Acta Crystallogr Sect F Struct Biol Cryst Commun. 2009;65:779-83 pubmed publisher
    The ligand-receptor complex of GDF5 bound to its type I and type II receptors BRIB and ActRIIB was produced and crystallized...
  57. Pan F, Tian J, Winzenberg T, Ding C, Jones G. Association between GDF5 rs143383 polymorphism and knee osteoarthritis: an updated meta-analysis based on 23,995 subjects. BMC Musculoskelet Disord. 2014;15:404 pubmed publisher
    Previous studies investigating the association between GDF5 rs143383 polymorphism and knee osteoarthritis (OA) have suggested stronger associations in Asians than Caucasians, but limitations on the amount of available data have meant that ..
  58. Reynard L, Bui C, Syddall C, Loughlin J. CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383. Hum Genet. 2014;133:1059-73 pubmed publisher
    b>GDF5 encodes an extracellular signalling molecule that is essential for normal skeletal development...
  59. Ratnayake M, Plöger F, Santibanez Koref M, Loughlin J. Human chondrocytes respond discordantly to the protein encoded by the osteoarthritis susceptibility gene GDF5. PLoS ONE. 2014;9:e86590 pubmed publisher
    A genetic deficit mediated by SNP rs143383 that leads to reduced expression of GDF5 is strongly associated with large-joint osteoarthritis...
  60. Lettre G, Jackson A, Gieger C, Schumacher F, Berndt S, Sanna S, et al. Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet. 2008;40:584-91 pubmed publisher
    ..These results expand the picture of the biological regulation of human height and of the genetic architecture of this classical complex trait. ..
  61. Daniels J, Binch A, Le Maitre C. Inhibiting IL-1 signaling pathways to inhibit catabolic processes in disc degeneration. J Orthop Res. 2017;35:74-85 pubmed publisher
    ..2016 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 35:74-85, 2017. ..
  62. Mu J, Ge W, Zuo X, Chen Y, Huang C. Analysis of association between IL-1?, CASP-9, and GDF5 variants and low-back pain in Chinese male soldier: clinical article. J Neurosurg Spine. 2013;19:243-7 pubmed publisher
    ..098) level. However, the G allele of caspase-9 (CASP-9) and the T allele of growth differentiation factor 5 (GDF5) were more common in patients with LBP than in patients without LBP (p < 0.001)...
  63. Gunnella F, Kunisch E, Maenz S, Horbert V, Xin L, Mika J, et al. The GDF5 mutant BB-1 enhances the bone formation induced by an injectable, poly(l-lactide-co-glycolide) acid (PLGA) fiber-reinforced, brushite-forming cement in a sheep defect model of lumbar osteopenia. Spine J. 2018;18:357-369 pubmed publisher
    Targeted delivery of osteoinductive bone morphogenetic proteins (eg, GDF5) in bioresorbable calcium phosphate cement (CPC), potentially suitable for vertebroplasty and kyphoplasty of osteoporotic vertebral fractures, may be required to ..
  64. Ge W, Mu J, Huang C. The GDF5 SNP is associated with meniscus injury and function recovery in male Chinese soldiers. Int J Sports Med. 2014;35:625-8 pubmed publisher
    Genetic factor have previously been shown to play an important role in sports injuries and recovery. GDF5 Single-Nucleotide Polymorphism rs143383 has been recently reported to be associated with fracture susceptibility...
  65. Tang L, Wu X, Zhang H, Lu S, Wu M, Shen C, et al. A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome. Hum Mol Genet. 2017;26:1280-1293 pubmed publisher
    ..We also show that Fgf9 is required for normal expression of Gdf5 in the prospective elbow and knee joints through its activation of Gdf5 promoter activity...
  66. Haro E, Watson B, Feenstra J, Tegeler L, Pira C, Mohan S, et al. Lmx1b-targeted cis-regulatory modules involved in limb dorsalization. Development. 2017;144:2009-2020 pubmed publisher
    ..We validated the functional activity of a PCRM associated with joint-related Gdf5 that provides a mechanism for Lmx1b-mediated joint modification and a PCRM associated with Lmx1b that ..
  67. Jin L, Li X. Growth differentiation factor 5 regulation in bone regeneration. Curr Pharm Des. 2013;19:3364-73 pubmed
    b>Growth differentiation factor 5 (GDF5) is a member of the bone morphogenic protein (BMP) family and plays critical roles in organ development processes including bone, cartilage, ligament, and joint formation...
  68. Kwong F, Hoyland J, Freemont A, Evans C. Altered relative expression of BMPs and BMP inhibitors in cartilaginous areas of human fractures progressing towards nonunion. J Orthop Res. 2009;27:752-7 pubmed publisher
    ..These data suggest strategies for preventing the development of nonunions by altering levels of BMPs and their inhibitors within fracture sites. ..