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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Lines MA, Goldenberg P, Wong A, Srivastava S, Bayat A, Hove H, Karstensen HG, Anyane-Yeboa K, Liao J, Jiang N, May A, Guzman E, Morleo M, D'Arrigo S, Ciaccio C, Pantaleoni C, Castello R; TUDP Study Group; McKee S, Ong J, Zibdeh-Lough H, Tran-Mau-Them F, Gerasimenko A, Heron D, Keren B, Margot H, de Sainte Agathe JM, Burglen L, Voets T, Vriens J, Innes AM, Dyment DA. Lines MA, et al. Among authors: voets t. Am J Med Genet A. 2022 Jun;188(6):1667-1675. doi: 10.1002/ajmg.a.62673. Epub 2022 Feb 10. Am J Med Genet A. 2022. PMID: 35146895
TRPV4 calcium entry channel: a paradigm for gating diversity.
Nilius B, Vriens J, Prenen J, Droogmans G, Voets T. Nilius B, et al. Among authors: voets t. 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.
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: voets t. 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.
TRPM3 is a nociceptor channel involved in the detection of noxious heat.
Vriens J, Owsianik G, Hofmann T, Philipp SE, Stab J, Chen X, Benoit M, Xue F, Janssens A, Kerselaers S, Oberwinkler J, Vennekens R, Gudermann T, Nilius B, Voets T. Vriens J, et al. Among authors: voets t. Neuron. 2011 May 12;70(3):482-94. doi: 10.1016/j.neuron.2011.02.051. Neuron. 2011. PMID: 21555074 Free article.
Peripheral thermosensation in mammals.
Vriens J, Nilius B, Voets T. Vriens J, et al. Among authors: voets t. Nat Rev Neurosci. 2014 Sep;15(9):573-89. doi: 10.1038/nrn3784. Epub 2014 Jul 23. Nat Rev Neurosci. 2014. PMID: 25053448 Review.
236 results