Gene Review:
GDF5 - growth differentiation factor 5
Homo sapiens
Synonyms:
BDA1C, BMP-14, BMP14, Bone morphogenetic protein 14, CDMP-1, ...
Kantaputra,
Pongprot,
Praditsap,
Pho-iam,
Limwongse,
Sullivan,
Opacka-Juffry,
Pohl,
Blunt,
Thomas,
Kilpatrick,
Lin,
Erlacher,
Lembessis,
Costa,
Tsipouras,
Luyten,
Yamashita,
Shimizu,
Kato,
Nishitoh,
Ichijo,
Hanyu,
Morita,
Kimura,
Makishima,
Miyazono,
Lehmann,
Seemann,
Boergermann,
Morin,
Reif,
Knaus,
Mundlos,
Zoricic,
Maric,
Bobinac,
Vukicevic,
- Trophic and protective effects of growth/differentiation factor 5, a member of the transforming growth factor-beta superfamily, on midbrain dopaminergic neurons. Krieglstein, K., Suter-Crazzolara, C., Hötten, G., Pohl, J., Unsicker, K. J. Neurosci. Res. (1995)
- A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Miyamoto, Y., Mabuchi, A., Shi, D., Kubo, T., Takatori, Y., Saito, S., Fujioka, M., Sudo, A., Uchida, A., Yamamoto, S., Ozaki, K., Takigawa, M., Tanaka, T., Nakamura, Y., Jiang, Q., Ikegawa, S. Nat. Genet. (2007)
- A new syndrome of symphalangism, multiple frenula, postaxial polydactyly, dysplastic ears, dental anomalies, and exclusion of NOG and GDF5. Kantaputra, P.N., Pongprot, Y., Praditsap, O., Pho-iam, T., Limwongse, C. Am. J. Med. Genet. A (2003)
- Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1. Thomas, J.T., Kilpatrick, M.W., Lin, K., Erlacher, L., Lembessis, P., Costa, T., Tsipouras, P., Luyten, F.P. Nat. Genet. (1997)
- A human chondrodysplasia due to a mutation in a TGF-beta superfamily member. Thomas, J.T., Lin, K., Nandedkar, M., Camargo, M., Cervenka, J., Luyten, F.P. Nat. Genet. (1996)
- Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. Seemann, P., Schwappacher, R., Kjaer, K.W., Krakow, D., Lehmann, K., Dawson, K., Stricker, S., Pohl, J., Plöger, F., Staub, E., Nickel, J., Sebald, W., Knaus, P., Mundlos, S. J. Clin. Invest. (2005)
- Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. Sammar, M., Stricker, S., Schwabe, G.C., Sieber, C., Hartung, A., Hanke, M., Oishi, I., Pohl, J., Minami, Y., Sebald, W., Mundlos, S., Knaus, P. Genes Cells (2004)
- A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. Lehmann, K., Seemann, P., Boergermann, J., Morin, G., Reif, S., Knaus, P., Mundlos, S. Eur. J. Hum. Genet. (2006)
- The mutational spectrum of brachydactyly type C. Everman, D.B., Bartels, C.F., Yang, Y., Yanamandra, N., Goodman, F.R., Mendoza-Londono, J.R., Savarirayan, R., White, S.M., Graham, J.M., Gale, R.P., Svarch, E., Newman, W.G., Kleckers, A.R., Francomano, C.A., Govindaiah, V., Singh, L., Morrison, S., Thomas, J.T., Warman, M.L. Am. J. Med. Genet. (2002)
- Recombinant human growth/differentiation factor 5 stimulates mesenchyme aggregation and chondrogenesis responsible for the skeletal development of limbs. Hötten, G.C., Matsumoto, T., Kimura, M., Bechtold, R.F., Kron, R., Ohara, T., Tanaka, H., Satoh, Y., Okazaki, M., Shirai, T., Pan, H., Kawai, S., Pohl, J.S., Kudo, A. Growth Factors (1996)
- Bone morphogenetic proteins and growth and differentiation factors in the human cornea. You, L., Kruse, F.E., Pohl, J., Völcker, H.E. Invest. Ophthalmol. Vis. Sci. (1999)
- Cartilage-derived morphogenetic protein-1 and -2 are endogenously expressed in healthy and osteoarthritic human articular chondrocytes and stimulate matrix synthesis. Bobacz, K., Gruber, R., Soleiman, A., Graninger, W.B., Luyten, F.P., Erlacher, L. Osteoarthr. Cartil. (2002)
- Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis. Erlacher, L., McCartney, J., Piek, E., ten Dijke, P., Yanagishita, M., Oppermann, H., Luyten, F.P. J. Bone Miner. Res. (1998)
- Neuroprotective effects of growth/differentiation factor 5 depend on the site of administration. Sullivan, A.M., Opacka-Juffry, J., Pohl, J., Blunt, S.B. Brain Res. (1999)
- A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. Kjaer, K.W., Eiberg, H., Hansen, L., van der Hagen, C.B., Rosendahl, K., Tommerup, N., Mundlos, S. J. Med. Genet. (2006)
- p38 mitogen-activated protein kinase functionally contributes to chondrogenesis induced by growth/differentiation factor-5 in ATDC5 cells. Nakamura, K., Shirai, T., Morishita, S., Uchida, S., Saeki-Miura, K., Makishima, F. Exp. Cell Res. (1999)
- Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes. Settle, S.H., Rountree, R.B., Sinha, A., Thacker, A., Higgins, K., Kingsley, D.M. Dev. Biol. (2003)
- Upregulation of ID protein by growth and differentiation factor 5 (GDF5) through a smad-dependent and MAPK-independent pathway in HUVSMC. Chen, X., Zankl, A., Niroomand, F., Liu, Z., Katus, H.A., Jahn, L., Tiefenbacher, C. J. Mol. Cell. Cardiol. (2006)
- Recombinant growth/differentiation factor-5 stimulates osteogenic differentiation of fat-derived stromal cells in vitro. Zeng, Q., Li, X., Choi, L., Beck, G., Balian, G., Shen, F.H. Connect. Tissue Res. (2006)
- Growth/differentiation factor-5 induces angiogenesis in vivo. Yamashita, H., Shimizu, A., Kato, M., Nishitoh, H., Ichijo, H., Hanyu, A., Morita, I., Kimura, M., Makishima, F., Miyazono, K. Exp. Cell Res. (1997)
- Defining the skeletal elements. Vortkamp, A. Curr. Biol. (1997)
- Expression of bone morphogenetic proteins and cartilage-derived morphogenetic proteins during osteophyte formation in humans. Zoricic, S., Maric, I., Bobinac, D., Vukicevic, S. J. Anat. (2003)
- Stimulatory effects of cartilage-derived morphogenetic proteins 1 and 2 on osteogenic differentiation of bone marrow stromal cells. Gruber, R., Mayer, C., Schulz, W., Graninger, W., Peterlik, M., Watzek, G., Luyten, F.P., Erlacher, L. Cytokine (2000)
- GDF5 is a second locus for multiple-synostosis syndrome. Dawson, K., Seeman, P., Sebald, E., King, L., Edwards, M., Williams, J., Mundlos, S., Krakow, D. Am. J. Hum. Genet. (2006)
- Isolation of a cDNA sequence of rabbit GDF5 (mature form) and pattern of its mRNA expression during periosteal chondrogenesis. Sanyal, A., Sarkar, G., Fitzsimmons, J.S., O'Driscoll, S.W. Mol. Biotechnol. (2000)