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Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
Camacho N, Krakow D, Johnykutty S, Katzman PJ, Pepkowitz S, Vriens J, Nilius B, Boyce BF, Cohn DH. Camacho N, et al. Among authors: nilius b. Am J Med Genet A. 2010 May;152A(5):1169-77. doi: 10.1002/ajmg.a.33392. Am J Med Genet A. 2010. PMID: 20425821 Free PMC article.
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH. Rock MJ, et al. Among authors: nilius b. Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29. Nat Genet. 2008. PMID: 18587396 Free PMC article.
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH. Krakow D, et al. Among authors: nilius b. Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19. Am J Hum Genet. 2009. PMID: 19232556 Free PMC article.
Modulation of TRPV4 gating by intra- and extracellular Ca2+.
Watanabe H, Vriens J, Janssens A, Wondergem R, Droogmans G, Nilius B. Watanabe H, et al. Among authors: nilius b. Cell Calcium. 2003 May-Jun;33(5-6):489-95. doi: 10.1016/s0143-4160(03)00064-2. Cell Calcium. 2003. PMID: 12765694
TRPV4 calcium entry channel: a paradigm for gating diversity.
Nilius B, Vriens J, Prenen J, Droogmans G, Voets T. Nilius B, et al. Am J Physiol Cell Physiol. 2004 Feb;286(2):C195-205. doi: 10.1152/ajpcell.00365.2003. Am J Physiol Cell Physiol. 2004. PMID: 14707014 Free article. Review.
Molecular determinants of permeation through the cation channel TRPV4.
Voets T, Prenen J, Vriens J, Watanabe H, Janssens A, Wissenbach U, Bödding M, Droogmans G, Nilius B. Voets T, et al. Among authors: nilius b. J Biol Chem. 2002 Sep 13;277(37):33704-10. doi: 10.1074/jbc.M204828200. Epub 2002 Jul 1. J Biol Chem. 2002. PMID: 12093812 Free article.
499 results