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Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
Dikoglu E, Alfaiz A, Gorna M, Bertola D, Chae JH, Cho TJ, Derbent M, Alanay Y, Guran T, Kim OH, Llerenar JC Jr, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonafé L, Superti-Furga A, Unger S. Dikoglu E, et al. Among authors: kim oh. Am J Med Genet A. 2015 Jul;167(7):1501-9. doi: 10.1002/ajmg.a.37029. Epub 2015 Mar 21. Am J Med Genet A. 2015. PMID: 25808063
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A. Nishimura G, et al. Among authors: kim oh. Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414. Am J Med Genet A. 2010. PMID: 20503319
TRPV4-pathy, a novel channelopathy affecting diverse systems.
Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S. Dai J, et al. Among authors: kim oh. J Hum Genet. 2010 Jul;55(7):400-2. doi: 10.1038/jhg.2010.37. Epub 2010 May 27. J Hum Genet. 2010. PMID: 20505684 Review.
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim OH, Nishimura G, Ikegawa S. Furuichi T, et al. Among authors: kim oh. J Med Genet. 2011 Jan;48(1):32-7. doi: 10.1136/jmg.2010.080226. Epub 2010 Oct 30. J Med Genet. 2011. PMID: 21037275
525 results