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Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Banka, Siddharth; Bennington, Abigail; Baker, Martin J; Rijckmans, Ellen; Clemente, Giuliana D; Ansor, Nurhuda Mohamad; Sito, Hilary; Prasad, Pritha; Anyane-Yeboa, Kwame; Badalato, Lauren; Dimitrov, Boyan; Fitzpatrick, David; Hurst, Anna C E; Jansen, Anna C; Kelly, Melissa A; Krantz, Ian; Rieubland, Claudine; Ross, Meredith; Rudy, Natasha L; Sanz, Javier; Stouffs, Katrien; Xu, Zhuo Luan; Malliri, Angeliki; Kazanietz, Marcelo G; Millard, Tom H.
Afiliación
  • Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.
  • Bennington A; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Baker MJ; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.
  • Rijckmans E; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
  • Clemente GD; Cell Signalling Group, Cancer Research UK Manchester Institute, The University of Manchester, Alderley Park, Macclesfield SK10 4TG, UK.
  • Ansor NM; Department of Pediatrics, UZ Brussel, Brussels, Belgium.
  • Sito H; Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.
  • Prasad P; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.
  • Anyane-Yeboa K; School of Biochemistry, University of Bristol, Bristol BS8 1TD, UK.
  • Badalato L; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.
  • Dimitrov B; Advanced Medical and Dental Institute, Universiti Sains Malaysia, 13200 Kepala Batas, Penang, Malaysia.
  • Fitzpatrick D; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.
  • Hurst ACE; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.
  • Jansen AC; Division of Clinical Genetics, Columbia University Medical Center, New York 10032, USA.
  • Kelly MA; Department of Pediatrics, School of Medicine, Kingston General Hospital, Queen's University, Kingston, ON, Canada.
  • Krantz I; Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.
  • Rieubland C; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK.
  • Ross M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Rudy NL; Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.
  • Sanz J; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.
  • Stouffs K; HudsonAlpha Clinical Services Lab, Huntsville, AL, USA.
  • Xu ZL; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Malliri A; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
  • Kazanietz MG; Division of Clinical Genetics, Columbia University Medical Center, New York 10032, USA.
  • Millard TH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
Brain ; 145(12): 4232-4245, 2022 12 19.
Article en En | MEDLINE | ID: mdl-35139179

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteína de Unión al GTP rac1 / Megalencefalia / Trastornos del Neurodesarrollo Límite: Animals Idioma: En Revista: Brain Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteína de Unión al GTP rac1 / Megalencefalia / Trastornos del Neurodesarrollo Límite: Animals Idioma: En Revista: Brain Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido