Property Summary

NCBI Gene PubMed Count 120
PubMed Score 367.31
PubTator Score 263.40

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Acquired metabolic disease 267 0.0 2.0

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma -3.900 8.8e-09
osteosarcoma 1.555 2.0e-05
atypical teratoid / rhabdoid tumor 1.600 6.4e-03
medulloblastoma, large-cell 1.100 2.7e-04

Gene RIF (94)

PMID Text
26739524 The data suggest that Ad-GDF-5 gene therapy is a potential treatment for IDD, which restores the functions of degenerative intervertebral disc through enhancing the ECM production of human NP cells.
25894512 results demonstrate that SNP rs143383 of GDF5 is a compelling risk factor for both knee and hand osteoarthritis (OA) and provide further support for GDF5 in the etiology of OA [meta-analysis]
25820810 Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
25757091 An association of SNP in GDF5 with temporomandibular joint osteoarthritis in female Han Chinese.
25755766 our results showed that GDF-5 and BMPRII expressed both in normal and degenerated intervertebral disc tissues, and GDF-5 might have an inhibition effect on degenerated lumbar intervertebral discs
25467786 This meta-analysis finds that the C allele and CC genotype of the GDF5 gene are protective for knee osteoarthritis susceptibility.
25223801 These results suggest that obesity leads to upregulation of GDF5 expression responsible for the promotion of brown adipogenesis through a mechanism relevant to activation of the NF-kappaB pathway.
25174448 The proregion is stabilized by an intramolecular disulfide bond. The isolated proregion folds independently of the mature domain.
25092592 missense mutations p.T201P and p.L263P interfere with the protein structure and thereby reduce the amount of fully processed, biologically active GDF5, finally causing the clinical loss of function phenotype.
24861163 High GDF5 expression is associated with osteoarthritis.
24582800 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.
24561281 Growth differentiation factor 5 and canonical Wnt signaling may contribute to molecular mechanisms of osteoarthritis.
24466161 Osteoarthritis chondrocytes do not respond in a predictable manner to culture with exogenous GDF5.
24398992 The expression of growth differentiation factor 5 (GDF5) and aggrecan in 15 cases of salivary gland pleomorphic adenomas, was investigated.
24227118 Our results revealed that the GDF5 SNP was associated with susceptibility to the meniscus injury and postoperative function recovery in Chinese male soldiers.
24114442 established an association between two SNPs (rs224332 and rs224333) of GDF5 and DDH development in a female Chinese population.
24105021 results suggested that GDF5 polymorphism is associated with susceptibility to symptomatic lumbar disc herniation in Chinese Han population and type II collagen in the nucleus pulposus may be a factor in susceptibility to symptomatic lumbar disc herniation
24098149 These novel insights into the biology of GDF5 might also provide further clues on the pathophysiology of OA.
24003854 GDF5 is the only osteoarthritis susceptibility gene so far identified with definite evidence.[Review]
23825960 we have identified four trans-acting factors that are binding to GDF5, three of which are modulating GDF5 expression via the OA susceptibility locus rs143383.
23812741 The novel missense mutation p.Leu176Pro causes impaired secretion of GDF5 in Brachydactyly type C and mild Grebe type chondrodyslplasia.
23725396 GDF5 polymorphisms are associated with susceptibility to low back pain during military training in Chinese soldiers.
23423687 Although the effect size of the association between OA and GDF5 is small, there is suggestive evidence for an association.
23226264 GDF5 regulates TGF-beta-dependent angiogenesis in breast carcinoma cells.
23151597 Overall, a statistically significant association was found between the +104T/C polymorphism of GDF5 and risk of knee osteoarthritis
23121099 Growth differentiation factor 5 modulation of chondrogenesis of self-assembled constructs involves gap junction-mediated intercellular communication.
23090674 In conclusion, the rs143383 variant was not found to associate with the risk of ACL rupture.
22929025 GDF5 harbors a C/A transversion located -41 bp relative to the transcription start site that leads to increased gene expression.
22905146 analysis of positive selection on the osteoarthritis-risk and decreased-height associated variants at the GDF5 gene in East Asians
22615457 In conclusion, we find that GDF5, but not COG5 or MCF2L, influence the extent of radiographic damage in knee osteoarthritis
22284607 The associations of two single-nucleotide polymorphisms (GDF5 and ADAM12) with knee osteoarthritis that were noted in previous studies, were not found in the Korean knee osteoarthritis cohort.
21976273 A novel molecular mechanism of a GDF5 mutation affecting chondrogenesis and osteogenesis, is reported.
21936909 GDF5 polymorphism has an association with knee osteoarthritis in Thai ethnic.
21642387 Data demonstrates that the genetic effect of the rs143383 SNP on GDF5 expression is modulated epigenetically by DNA methylation.
21543859 Crystals of GDF5 and BMP receptor IA complex belonged to a monoclinic space group: either I2, with unit-cell parameters a = 63.81, b = 62.85, c = 124.99 A, beta = 95.9 degrees , or C2, with unit-cell parameters a = 132.17, b = 62.78, c = 63.53 A, beta = 112.8 degrees
21360499 Our findings in 5 population cohorts from Northern Europe indicate that a variant in the GDF5 gene is a risk factor for lumbar disc degeneration in women.
21270694 [review] In a case of identical female twins in two unrelated families, CDMP-1 mutation is not associated with dysplastic developmental spondylolisthesis; however, mutant CDMP-1 may be an etiology for at least a subpopulation of patients.
20939878 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20870806 T allele of GDF5 rs143833 is associated with a 17% increased risk of knee osteoarthritis & when all data were analysed the genetic association reached genome-wide significance with p=6.2x10-11 in all samples and with p=8.3x10-9 in European samples
20683927 BDA1 (semidominant brachydactyly A1) can result from semidominant mutations in GDF5.
20633687 Observational study of gene-disease association. (HuGE Navigator)
20546612 Observational study of gene-disease association. (HuGE Navigator)
20360039 Observational study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20237151 Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator)
20170953 The mutant GDF-5 showed superior bone formation capacity than GDF-5.
19956691 study describes that specific mutations of a single amino acid in GDF5 cause congenital fusion of joints; show that the mutant GDF5 is no longer inhibited by Noggin
19874419 human articular chondrocyte dedifferentiation is associated with alterations in expression patterns of GDF-5 and its receptors
19782107 the inhibition of apoptosis by BMP2 and GDF5 does not depend on more complex signal transduction pathways such as smad and MAPK signaling but on direct stabilization of XIAP by BMPR2.
19754961 CDMP may be a useful growth factor to stimulate proteoglycan production in the human degenerate intervertebral disc
19652338 crystals consisted of the full ternary complex GDF5-BRIB-ActRIIB, but only diffracted to low resolution
19565498 OA susceptibility mediated by polymorphism in GDF5 is not restricted to cartilage, emphasizing the need to consider the disease as involving the whole joint.
19479880 Evidence of an association between the GDF5 rs143383 polymorphism and osteoarthritis (OA) is substantially strong, but the genetic effects are consistent across different populations only for knee OA.
19479880 Meta-analysis of gene-disease association. (HuGE Navigator)
19453261 Observational study of gene-disease association. (HuGE Navigator)
19393216 The cystine knot of homodimeric recombinant GDF5 exhibits the pattern Cys1-Cys5, Cys2-Cys6, and Cys3-Cys7 (three intrachain disulfide bonds), and the monomers are connected by a single interchain disulfide bridge (Cys4-Cys4).
19229295 Here, we present structural insights into the GDF-5:BMPR-IB complex revealing how binding specificity for BMPR-IB is generated on a molecular level.
19058174 There was a significant reduction in BMP-2 and BMP-14 expression in cartilaginous areas of nonhealing fractures compared to healing fractures
19054821 data confirm that the GDF5 variant is consistently associated with the risk of knee osteoarthritis and ethnic variation in allele frequencies at the DVWA gene was found and no significant association was found in UK or by combining UK and Asian samples.
19054821 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19038017 The study presented here confirms that CDMP1 plays an important role in the regulation of the development skeleton, and its absence does not impair other development processes
19029166 Results show that GDF5 gene variants are associated with hand, knee osteoarthritis and fracture risk in elderly women and replicates previous association between GDF5 variation and height.
19029166 Observational study of gene-disease association. (HuGE Navigator)
19023570 BMP-2 and BMP-14 expression was strongest in areas of cartilage formation and, to a lesser extent, in areas of bone formation.
18979166 Results describe a novel missense mutation in the gene for growth differentiation factor 5 that results in a phenotype similar to Grebe-type chondrodysplasia.
18947434 gene growth differentiate factor 5 is important in the aetiology of congenital dysplasia of the hip.
18947434 Observational study of gene-disease association. (HuGE Navigator)
18830904 expressed in synovial fibroblasts and may counteract macrophage infiltration
18697781 present work shows that the functional GDF5 polymorphism associated with osteoarthritis risk demonstrates a similar role in rheumatoid arthritis susceptibility
18629880 A patient with Du Pan type chondrodysplasia has two novel mutations and compound heterozygosity for GDF5.
18299287 The results showed a positive association of the GDF5 single-nucleotide polymorphism with knee osteoarthritis for Europeans as well as for Asians.
18299287 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18283415 Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.
18203755 Unprocessed proGDF5 is virtually inactive but can be proteolytically activated by different enzymes such as trypsin, furin, and MMP3.
18193045 Common variants in the GDF5-UQCC region are associated with variation in human height.
18075819 observations indicate that GDF-5 stimulates osteogenic differentiation and has a potential to induce angiogenesis through osteoblast-derived VEGF-A in bone.
17989347 A GDF5/bone morphogenetic protein 4 (BMP4)selective binding protein exists in human pulmonary artery smooth muscle cells.
17676627 Observational study of gene-disease association. (HuGE Navigator)
17676627 the +104T/C; rs143383 GDF5 core promoter polymorphism is not a risk factor for osteoarthritis etiology in Greek Caucasians
17616513 Observational study of gene-disease association. (HuGE Navigator)
17616513 small but persistent imbalance of GDF5 expression throughout life therefore appears to render an individual more susceptible to osteoarthritis
17602228 Successful treatment with infliximab of refractory rheumatoid arthritis in a male with 'GDF5 brachydaltyly' is reported.
17384641 GDF5 is a susceptibility gene for osteoarthritis and decreased GDF5 expression is involved in the pathogenesis of osteoarthritis.
16716349 GDF5 could be involved in the process of angiogenesis. GDF5 signal transduction pathway
16508114 Presence of only one monomer in the asymmetric unit, resulting in a high solvent content of 72% in the crystal.
16499717 promotes proliferation and differentiation of calvarial cells
16127465 Results describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities.
16014698 GDF5 is a novel brachydactyly type A2 causing gene.
15569154 Role of GDF5 in signal pathway.
14735582 CDMP1 responsible for Brachydactyly type C
12707774 pleomorphic adenoma expressed cartilage derived morphogenetic protein 1 but not 2
12357473 brachydactyly type C results from functional haploinsufficiency for GDF5
12124730 CDMP1 plays an important role in the regulation of axial bone growth during development but its absence does not impair other developmental processes.
12121354 A missense mutation in the mature domain of CDMP1 found in a kindred affected with fibular hypoplasia and complex brachydactyly likely causes a CDMP1 conformational change that influences expression of genes required for normal bone develoment.

AA Sequence

MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRPGGHSYGGGAT      1 - 70
NANARAKGGTGQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATARTVTPKGQLPGGKAPPKAGSV     71 - 140
PSSFLLKKAREPGPPREPKEPFRPPPITPHEYMLSLYRTLSDADRKGGNSSVKLEAGLANTITSFIDKGQ    141 - 210
DDRGPVVRKQRYVFDISALEKDGLLGAELRILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPASLLDV    211 - 280
RSVPGLDGSGWEVFDIWKLFRNFKNSAQLCLELEAWERGRAVDLRGLGFDRAARQVHEKALFLVFGRTKK    281 - 350
RDLFFNEIKARSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKARCSRKALHVNFKDMGWDDWIIA    351 - 420
PLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDPESTPPTCCVPTRLSPISILFIDSANNVVYKQY    421 - 490
EDMVVESCGCR                                                               491 - 501
//

Text Mined References (126)

PMID Year Title
26739524 2016 Adenovirus-mediated GDF-5 promotes the extracellular matrix expression in degenerative nucleus pulposus cells.
26643732 2016 A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
25894512 2015 A comprehensive meta-analysis of association between genetic variants of GDF5 and osteoarthritis of the knee, hip and hand.
25820810 2015 Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.
25757091 2015 Association of GDF5, SMAD3 and RUNX2 polymorphisms with temporomandibular joint osteoarthritis in female Han Chinese.
25755766 2015 Role of growth differentiation factor-5 and bone morphogenetic protein type II receptor in the development of lumbar intervertebral disc degeneration.
25467786 2014 Association between GDF5 rs143383 polymorphism and knee osteoarthritis: an updated meta-analysis based on 23,995 subjects.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25281659 2015 A novel common variant in DCST2 is associated with length in early life and height in adulthood.
25223801 2014 Nuclear factor-?B is a common upstream signal for growth differentiation factor-5 expression in brown adipocytes exposed to pro-inflammatory cytokines and palmitate.
25174448 2014 Biophysical and structural characterization of a folded core domain within the proregion of growth and differentiation factor-5.
25092592 2014 Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.
24861163 2014 CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383.
24582800 2014 Growth and differentiation factor-5 (GDF-5) in the human intervertebral annulus cells and its modulation by IL-1ß and TNF-? in vitro.
24561281 2014 GDF5 reduces MMP13 expression in human chondrocytes via DKK1 mediated canonical Wnt signaling inhibition.
24466161 2014 Human chondrocytes respond discordantly to the protein encoded by the osteoarthritis susceptibility gene GDF5.
24398992 2013 The involvement of growth differentiation factor 5 (GDF5) and aggrecan in the epithelial-mesenchymal transition of salivary gland pleomorphic adenoma.
24227118 2014 The GDF5 SNP is associated with meniscus injury and function recovery in male Chinese soldiers.
24114442 2013 Two single nucleotide polymorphisms in the GDF5 gene are associated with development dysplasia of the hip in Chinese female population.
24105021 2014 A SNP in the 5'UTR of GDF5 is associated with susceptibility to symptomatic lumbar disc herniation in the Chinese Han population.
24098149 2013 A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.
24003854 2013 The genetics of common degenerative skeletal disorders: osteoarthritis and degenerative disc disease.
23825960 2013 The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383.
23812741 2013 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.
23725396 2013 Analysis of association between IL-1?, CASP-9, and GDF5 variants and low-back pain in Chinese male soldier: clinical article.
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
23432680 2013 Growth differentiation factor 5 regulation in bone regeneration.
23423687 2013 Rs143383 in the growth differentiation factor 5 (GDF5) gene significantly associated with osteoarthritis (OA)-a comprehensive meta-analysis.
23226264 2012 GDF5 regulates TGFß-dependent angiogenesis in breast carcinoma MCF-7 cells: in vitro and in vivo control by anti-TGFß peptides.
23151597 2013 Association between the +104T/C polymorphism in the 5'UTR of GDF5 and susceptibility to knee osteoarthritis: a meta-analysis.
23121099 2012 Growth differentiation factor 5 modulation of chondrogenesis of self-assembled constructs involves gap junction-mediated intercellular communication.
23090674 2013 The GDF5 gene and anterior cruciate ligament rupture.
22929025 2013 A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression.
22905146 2012 Positive selection on the osteoarthritis-risk and decreased-height associated variants at the GDF5 gene in East Asians.
22828468 2012 A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.
22615457 2012 Genetic contribution to radiographic severity in osteoarthritis of the knee.
22284607 2012 Genetic association analysis of GDF5 and ADAM12 for knee osteoarthritis.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
21976273 2012 New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
21936909 2011 A genetic association study between growth differentiation factor 5 (GDF 5) polymorphism and knee osteoarthritis in Thai population.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21642387 2011 Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation.
21543859 2011 Purification, crystallization and preliminary data analysis of the ligand-receptor complex of the growth and differentiation factor 5 variant R57A (GDF5R57A) and BMP receptor IA (BRIA).
21360499 2011 GDF5 single-nucleotide polymorphism rs143383 is associated with lumbar disc degeneration in Northern European women.
21270694 2011 Spondylolisthesis in twins: multifactorial etiology: a case report and review of the literature.
20939878 2010 Prediction model for knee osteoarthritis based on genetic and clinical information.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20870806 2011 The GDF5 rs143383 polymorphism is associated with osteoarthritis of the knee with genome-wide statistical significance.
20683927 2010 Mutations in GDF5 presenting as semidominant brachydactyly A1.
20633687 2010 Evidence of association between GDF5 polymorphisms and congenital dislocation of the hip in a Caucasian population.
20546612 2010 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
20360039 2010 Components of the transforming growth factor-beta family and the pathogenesis of human Achilles tendon pathology--a genetic association study.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20237151 2010 Field synopsis and synthesis of genetic association studies in osteoarthritis: the CUMAGAS-OSTEO information system.
20189936 2010 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
20170953 2010 The effect of two point mutations in GDF-5 on ectopic bone formation in a beta-tricalciumphosphate scaffold.
19956691 2009 Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.
19874419 2009 Dedifferentiation of human articular chondrocytes is associated with alterations in expression patterns of GDF-5 and its receptors.
19782107 2009 GDF5 and BMP2 inhibit apoptosis via activation of BMPR2 and subsequent stabilization of XIAP.
19754961 2009 Expression of cartilage-derived morphogenetic protein in human intervertebral discs and its effect on matrix synthesis in degenerate human nucleus pulposus cells.
19652338 2009 Purification, crystallization and preliminary data analysis of ligand-receptor complexes of growth and differentiation factor 5 (GDF5) and BMP receptor IB (BRIB).
19565498 2009 Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism.
19479880 2009 Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19393216 2009 Elucidation of the disulfide bridge pattern of the recombinant human growth and differentiation factor 5 dimer and the interchain Cys/Ala mutant monomer.
19229295 2009 Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity.
19058174 2009 Altered relative expression of BMPs and BMP inhibitors in cartilaginous areas of human fractures progressing towards nonunion.
19054821 2009 Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations.
19038017 2008 A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family.
19029166 2009 Genetic variation in the GDF5 region is associated with osteoarthritis, height, hip axis length and fracture risk: the Rotterdam study.
19023570 2009 Regional and cellular localisation of BMPs and their inhibitors' expression in human fractures.
18979166 2008 Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.
18947434 2008 Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study.
18830904 Modulatory effects of inflammation and therapy on GDF-5 expression in rheumatoid arthritis synovium.
18697781 2008 GDF5 Polymorphism associated with osteoarthritis: risk for rheumatoid arthritis.
18629880 2008 Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.
18391951 2008 Many sequence variants affecting diversity of adult human height.
18391950 2008 Identification of ten loci associated with height highlights new biological pathways in human growth.
18339631 2008 Targeting of bone morphogenetic protein growth factor complexes to fibrillin.
18299287 2008 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.
18283415 2008 Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.
18203755 2008 Brachydactyly type A2 associated with a defect in proGDF5 processing.
18193045 2008 Common variants in the GDF5-UQCC region are associated with variation in human height.
18075819 2007 Modulation of VEGF expression in rat bone marrow stromal cells by GDF-5.
17989347 2008 Functional characterization of bone morphogenetic protein binding sites and Smad1/5 activation in human vascular cells.
17676627 2008 The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population.
17616513 2007 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.
17602228 2007 Successful treatment with infliximab of refractory rheumatoid arthritis in a male with 'GDF5 brachydactyly'.
17384641 2007 A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.
16892395 2006 A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.
16716349 2006 Upregulation of ID protein by growth and differentiation factor 5 (GDF5) through a smad-dependent and MAPK-independent pathway in HUVSMC.
16532400 2006 GDF5 is a second locus for multiple-synostosis syndrome.
16508114 2005 Crystallization and preliminary X-ray diffraction analysis of human growth and differentiation factor 5 (GDF-5).
16499717 2006 Recombinant human growth/differentiation factor-5 (rhGDF-5) induced bone formation in murine calvariae.
16222676 2005 Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.
16127465 2005 Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
16014698 2006 A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.
15569154 2004 Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2.
15530414 2004 Cartilage-derived morphogenetic protein-1 promotes the differentiation of mesenchymal stem cells into chondrocytes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14973287 2004 HtrA1 serine protease inhibits signaling mediated by Tgfbeta family proteins.
14735582 2004 Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.
14660436 2004 A novel chordin-like BMP inhibitor, CHL2, expressed preferentially in chondrocytes of developing cartilage and osteoarthritic joint cartilage.
12707774 2003 Immunohistochemical evaluation of cartilage-derived morphogenic protein-1 and -2 in normal human salivary glands and pleomorphic adenomas.
12543931 2002 Toward a human blood serum proteome: analysis by multidimensional separation coupled with mass spectrometry.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12357473 2002 The mutational spectrum of brachydactyly type C.
12124730 2002 Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
12121354 2002 Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
11282024 2001 Synergistic effects of different bone morphogenetic protein type I receptors on alkaline phosphatase induction.
11276205 2001 A CD14-independent LPS receptor cluster.
10844590 2000 The family of bone morphogenetic proteins.
10512744 1999 Minimal promoter components of the human growth/differentiation factor-5 gene.
9950587 1999 Bone morphogenetic proteins and growth and differentiation factors in the human cornea.
9525338 1998 Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis.
9451821 1997 Cartilage-derived morphogenetic protein-1.
9288098 1997 Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.
9288091 1997 Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
9057810 1995 Cartilage morphogenesis: role of bone and cartilage morphogenetic proteins, homeobox genes and extracellular matrix.
8702914 1996 Identification of type I and type II serine/threonine kinase receptors for growth/differentiation factor-5.
8661040 1996 Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2.
8589725 1996 A human chondrodysplasia due to a mutation in a TGF-beta superfamily member.
7980526 1994 Cloning and expression of recombinant human growth/differentiation factor 5.
7961761 1994 Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development.