1. Deloukas P, Matthews LH, Ashurst J, Burton J, Gilbert JG, Jones M, Stavrides G, Almeida JP, Babbage AK, Bagguley CL, Bailey J, Barlow KF, Bates KN, Beard LM, Beare DM, Beasley OP, Bird CP, Blakey SE, Bridgeman AM, Brown AJ, Buck D, Burrill W, Butler AP, Carder C, Carter NP, Chapman JC, Clamp M, Clark G, Clark LN, Clark SY, Clee CM, Clegg S, Cobley VE, Collier RE, Connor R, Corby NR, Coulson A, Coville GJ, Deadman R, Dhami P, Dunn M, Ellington AG, Frankland JA, Fraser A, French L, Garner P, Grafham DV, Griffiths C, Griffiths MN, Gwilliam R, Hall RE, Hammond S, Harley JL, Heath PD, Ho S, Holden JL, Howden PJ, Huckle E, Hunt AR, Hunt SE, Jekosch K, Johnson CM, Johnson D, Kay MP, Kimberley AM, King A, Knights A, Laird GK, Lawlor S, Lehvaslaiho MH, Leversha M, Lloyd C, Lloyd DM, Lovell JD, Marsh VL, Martin SL, McConnachie LJ, McLay K, McMurray AA, Milne S, Mistry D, Moore MJ, Mullikin JC, Nickerson T, Oliver K, Parker A, Patel R, Pearce TA, Peck AI, Phillimore BJ, Prathalingam SR, Plumb RW, Ramsay H, Rice CM, Ross MT, Scott CE, Sehra HK, Shownkeen R, Sims S, Skuce CD, Smith ML, Soderlund C, Steward CA, Sulston JE, Swann M, Sycamore N, Taylor R, Tee L, Thomas DW, Thorpe A, Tracey A, Tromans AC, Vaudin M, Wall M, Wallis JM, Whitehead SL, Whittaker P, Willey DL, Williams L, Williams SA, Wilming L, Wray PW, Hubbard T, Durbin RM, Bentley DR, Beck S, Rogers J. (2001) The DNA sequence and comparative analysis of human chromosome 20.. Nature, 414 (6866): (865-71). [PMID:11780052] |
2. Chang, S C SC and 8 more authors.. (1994) Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development.. The Journal of biological chemistry, (11): [PMID:7961761] |
3. Hötten, G G, Neidhardt, H H, Jacobowsky, B B and Pohl, J J.. (1994) Cloning and expression of recombinant human growth/differentiation factor 5.. Biochemical and biophysical research communications, (28): [PMID:7980526] |
4. Thomas, J T JT and 5 more authors.. (1996) A human chondrodysplasia due to a mutation in a TGF-beta superfamily member.. Nature genetics, [PMID:8589725] |
5. Thomas, J T JT and 7 more authors.. (1997) Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.. Nature genetics, [PMID:9288098] |
6. Triantafilou, K K, Triantafilou, M M and Dedrick, R L RL.. (2001) A CD14-independent LPS receptor cluster.. Nature immunology, [PMID:11276205] |
7. Faiyaz-Ul-Haque, M M and 7 more authors.. (2002) Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).. Clinical genetics, [PMID:12121354] |
8. Schwabe, Georg C GC and 6 more authors.. (2004) Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.. American journal of medical genetics. Part A, (1): [PMID:14735582] |
9. Seemann, Petra P and 13 more authors.. (2005) Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.. The Journal of clinical investigation, [PMID:16127465] |
10. Szczaluba, K K and 5 more authors.. (2005) Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.. American journal of medical genetics. Part A, (1): [PMID:16222676] |
11. Dawson, Katherine K and 7 more authors.. (2006) GDF5 is a second locus for multiple-synostosis syndrome.. American journal of human genetics, [PMID:16532400] |
12. Wang, Xu X and 13 more authors.. (2006) A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.. American journal of medical genetics. Part A, (1): [PMID:16892395] |
13. Miyamoto, Yoshinari Y and 15 more authors.. (2007) A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.. Nature genetics, [PMID:17384641] |
14. Plöger, Frank F and 7 more authors.. (2008) Brachydactyly type A2 associated with a defect in proGDF5 processing.. Human molecular genetics, (1): [PMID:18203755] |
15. Yang, Wei W and 9 more authors.. (2008) Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.. Journal of human genetics, [PMID:18283415] |
16. Sengle, Gerhard G and 7 more authors.. (2008) Targeting of bone morphogenetic protein growth factor complexes to fibrillin.. The Journal of biological chemistry, (16): [PMID:18339631] |
17. Douzgou, Sofia S, Lehmann, Katarina K, Mingarelli, Rita R, Mundlos, Stefan S and Dallapiccola, Bruno B.. (2008) Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.. American journal of medical genetics. Part A, (15): [PMID:18629880] |
18. Kotzsch, Alexander A, Nickel, Joachim J, Seher, Axel A, Sebald, Walter W and Müller, Thomas D TD.. (2009) Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity.. The EMBO journal, (8): [PMID:19229295] |
19. Seemann, Petra P and 19 more authors.. (2009) Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.. PLoS genetics, [PMID:19956691] |
20. Byrnes, Ashley M AM and 6 more authors.. (2010) Mutations in GDF5 presenting as semidominant brachydactyly A1.. Human mutation, [PMID:20683927] |
21. Schwaerzer, Gerburg K GK and 7 more authors.. (2012) New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, [PMID:21976273] |
22. Gutiérrez-Amavizca, Bianca Ethel BE and 6 more authors.. (2012) A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.. European journal of medical genetics, [PMID:22828468] |
23. Degenkolbe, Elisa E and 13 more authors.. (2013) A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.. PLoS genetics, [PMID:24098149] |
24. Stange, Katja K and 11 more authors.. (2014) Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.. Journal of molecular biology, (23): [PMID:25092592] |
25. Al-Qattan, Mohammad M MM, Al-Motairi, Muhammed I MI and Al Balwi, Mohammed A MA.. (2015) Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.. American journal of medical genetics. Part A, [PMID:25820810] |
26. Wang, Jian J and 16 more authors.. (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.. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, [PMID:26643732] |