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Growth differentiation factor 6

This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, GDF5, GDF7, HAD, glycodelin
Papers on GDF6
Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins.
Kingsley et al., Stanford, United States. In Cell, Feb 2016
Armor bone-size differences in sticklebacks map to a major effect locus overlapping BMP family member GDF6.
Tuning microenvironment modulus and biochemical composition promotes human mesenchymal stem cell tenogenic differentiation.
Kloxin et al., Newark, United States. In J Biomed Mater Res A, Feb 2016
A face-centered central composite response surface design was utilized to understand the contributions of these cues to human MSC differentiation in the presence of soluble factors identified to promote tenogenesis/ligamentogenesis (BMP-13 and ascorbic acid).
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.
Shen et al., Shanghai, China. In J Bone Miner Res, Jan 2016
Using genetic data obtained from a 6 generation Chinese family, we identified a missense variant in GDF6 (NP_001001557.1;
Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
Baylor-Hopkins Center for Mendelian Genomics et al., Adana, Turkey. In Am J Med Genet A, Nov 2015
Mutated genes for both dominant (GDF6 and GDF3) and recessive (MEOX1) forms of Klippel-Feil syndrome have been shown to be involved in somite development via transcription regulation and signaling pathways.
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma.
Zhang et al., Guangzhou, China. In Int J Mol Med, Oct 2015
Of the 27, 6 were identified in BEST1, 4 in EYA1, 3 in GDF6, 2 in BMP4, 2 in CRYBA4, 2 in HCCS, and 1 in each of CRYAA, CRYGC, CRYGD, COL4A1, FOXC1, GJA8, PITX2 and SHH.
Palmieri et al., Ferrara, Italy. In J Biol Regul Homeost Agents, Jul 2015
Genes encoding hyaluronic acid synthesis and degradation, Metalloproteinases 2 and 3 and Desmoplakin production as well as GDF6, and IGF1 were activated by hyaluronic acid products.
Carinci et al., Ferrara, Italy. In J Biol Regul Homeost Agents, Jul 2015
Gene expression of Hyaluronan synthase 1 (HAS1), Elastine (ELN), Insulin like growth factor 1 (IGF1), Growth differentiation factor 6 (GDF6) and of a series of catabolic enzymes, such as Metalloproteases (MMP) 2, 3 and 13, the neutrophyl expressed Elastase (ELANE) and the Hyaluronidase 1 (HYAL1) were tested after 24, 48 and 72 hours of exposure to glucosamine sulphate and polideoxyribonucleotide alone or combined.
Restoration of mesenchymal retinal pigmented epithelial cells by TGFβ pathway inhibitors: implications for age-related macular degeneration.
Coffey et al., Santa Barbara, United States. In Genome Med, 2014
Among the wound response genes are the TGFβ pathway activators: TGFB1, TGFB2, INHBA, INHBB, GDF6, CTGF, and THBS1.
Cartilage Derived Morphogenetic Protein-2 Induces Cell Migration and Its Chondrogenic Potential in C28/I2 Cells.
Diwan et al., Sydney, Australia. In Int J Spine Surg, 2014
Our laboratory has published encouraging results for effectiveness of injection of the cartilage derived morphogenetic protein-2 (CDMP-2) into ovine discs following annular injury.
The genetic architecture of microphthalmia, anophthalmia and coloboma.
FitzPatrick et al., Edinburgh, United Kingdom. In Eur J Med Genet, 2014
This review will focus on MAC phenotypes that are associated with mutation of the genes SOX2, OTX2, PAX6, STRA6, ALDH1A3, RARB, VSX2, RAX, FOXE3, BMP4, BMP7, GDF3, GDF6, ABCB6, ATOH7, C12orf57, TENM3 (ODZ3), and VAX1.
Surgical treatment in a patient with Klippel-Feil syndrome and anterior cervical meningomyelocele: a case report and review of literature.
Klingenhöfer et al., Münster, Germany. In Eur Spine J, 2013
INTRODUCTION: Klippel-Feil syndrome (KFS) is considered a rare developmental disorder characterized by mono- or multisegmental fusion of the cervical vertebrae which is frequently associated with diverse non-osseous, e.g.
High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-β family member growth differentiation factor 6.
Zhang et al., Chengdu, China. In J Biol Chem, 2012
a critical role of HTRA1 in the regulation of angiogenesis via TGF-beta signaling and identified GDF6 as a novel disease gene for AMD.
The BMP ligand Gdf6 prevents differentiation of coronal suture mesenchyme in early cranial development.
Mortlock et al., Nashville, United States. In Plos One, 2011
Gdf6 plays an inhibitory role to prevent the osteogenic differentiation of the coronal suture mesenchyme
Eye development genes and known syndromes.
Slavotinek, San Francisco, United States. In Mol Genet Metab, 2011
In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6.
Treatment with rhBMP12 or rhBMP13 increase the rate and the quality of rat Achilles tendon repair.
Seeherman et al., Cambridge, United States. In J Orthop Res, 2011
expression regulated during tendon healing
Divergent activities of osteogenic BMP2, and tenogenic BMP12 and BMP13 independent of receptor binding affinities.
Jelinsky et al., Cambridge, United States. In Growth Factors, 2011
studies show that even though tenogenic (BMP 12 and BMP 13) and osteogenic (BMP2) BMPs bind the same receptors with high affinity they signal much differently and result in differential activation of osteogenic and tenogenic markers
BMP12 and BMP13 gene transfer induce ligamentogenic differentiation in mesenchymal progenitor and anterior cruciate ligament cells.
Steinert et al., Würzburg, Germany. In Cytotherapy, 2010
induces ligamentogenic differentiation in mesenchymal progenitors
Control of BMP gene expression by long-range regulatory elements.
Mortlock et al., Nashville, United States. In Cytokine Growth Factor Rev, 2009
Four BMP family members, Bmp2, Bmp4, Bmp5, and Gdf6, are now known to be under the control of distant cis-regulatory elements.
Unveiling the bmp13 enigma: redundant morphogen or crucial regulator?
Diwan et al., Sydney, Australia. In Int J Biol Sci, 2007
The purpose of this review is to identify and discuss current knowledge of one vertebrate BMP, Bone Morphogenetic Protein 13 (BMP13), from a variety of research fields, in order to clarify BMP13's functional contribution to developing and maintaining healthy tissues, and to identify potential future research directions for this intriguing morphogen.
Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily.
Lee et al., Stanford, United States. In Nature, 1994
GDF5 and the closely related GDF6 and GDF7 define a new subgroup of factors related to known bone- and cartilage-inducing molecules, the bone morphogenetic proteins (BMPs).
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