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RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D; Deciphering Developmental Disorders Study; Millard TH, Katsanis N, Brunner HG, Banka S. Reijnders MRF, et al. Among authors: millard th. Am J Hum Genet. 2017 Sep 7;101(3):466-477. doi: 10.1016/j.ajhg.2017.08.007. Am J Hum Genet. 2017. PMID: 28886345 Free PMC article.
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Banka S, Bennington A, Baker MJ, Rijckmans E, Clemente GD, Ansor NM, Sito H, Prasad P, Anyane-Yeboa K, Badalato L, Dimitrov B, Fitzpatrick D, Hurst ACE, Jansen AC, Kelly MA, Krantz I, Rieubland C, Ross M, Rudy NL, Sanz J, Stouffs K, Xu ZL, Malliri A, Kazanietz MG, Millard TH. Banka S, et al. Among authors: millard th. Brain. 2022 Dec 19;145(12):4232-4245. doi: 10.1093/brain/awac049. Brain. 2022. PMID: 35139179 Free PMC article.
Spectraplakins promote microtubule-mediated axonal growth by functioning as structural microtubule-associated proteins and EB1-dependent +TIPs (tip interacting proteins).
Alves-Silva J, Sánchez-Soriano N, Beaven R, Klein M, Parkin J, Millard TH, Bellen HJ, Venken KJ, Ballestrem C, Kammerer RA, Prokop A. Alves-Silva J, et al. Among authors: millard th. J Neurosci. 2012 Jul 4;32(27):9143-58. doi: 10.1523/JNEUROSCI.0416-12.2012. J Neurosci. 2012. PMID: 22764224 Free PMC article.
27 results