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Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
Martin, Carol-Anne; Murray, Jennie E; Carroll, Paula; Leitch, Andrea; Mackenzie, Karen J; Halachev, Mihail; Fetit, Ahmed E; Keith, Charlotte; Bicknell, Louise S; Fluteau, Adeline; Gautier, Philippe; Hall, Emma A; Joss, Shelagh; Soares, Gabriela; Silva, João; Bober, Michael B; Duker, Angela; Wise, Carol A; Quigley, Alan J; Phadke, Shubha R; Wood, Andrew J; Vagnarelli, Paola; Jackson, Andrew P.
Afiliación
  • Martin CA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Murray JE; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Carroll P; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Leitch A; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Mackenzie KJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Halachev M; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Fetit AE; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Keith C; South East Scotland Cytogenetics Service, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.
  • Bicknell LS; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Fluteau A; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
  • Gautier P; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Hall EA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Joss S; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.
  • Soares G; West of Scotland Genetic Service, Southern General Hospital, Glasgow G51 4TF, United Kingdom.
  • Silva J; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, 4099-028 Porto, Portugal.
  • Bober MB; Instituto de Biologia Molecular e Celular (IBMC), 4150 Porto, Portugal.
  • Duker A; Instituto de Investigação e Inovação em Saúde (I3S), Universidade do Porto, 4200-135 Porto, Portugal.
  • Wise CA; Division of Genetics, Department of Pediatrics, A.I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.
  • Quigley AJ; Division of Genetics, Department of Pediatrics, A.I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.
  • Phadke SR; Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA.
  • Wood AJ; Department of Pediatrics, Texas Scottish Rite Hospital for Children, Dallas, Texas 75219, USA.
  • Vagnarelli P; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas 75350, USA.
  • Jackson AP; Department of Radiology, Royal Hospital for Sick Children, Edinburgh EH9 1LF, United Kingdom.
Genes Dev ; 30(19): 2158-2172, 2016 Oct 01.
Article en En | MEDLINE | ID: mdl-27737959

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Adenosina Trifosfatasas / Complejos Multiproteicos / Proteínas de Unión al ADN / Microcefalia / Mitosis / Mutación Límite: Animals / Female / Humans / Male Idioma: En Revista: Genes Dev Asunto de la revista: BIOLOGIA MOLECULAR Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Adenosina Trifosfatasas / Complejos Multiproteicos / Proteínas de Unión al ADN / Microcefalia / Mitosis / Mutación Límite: Animals / Female / Humans / Male Idioma: En Revista: Genes Dev Asunto de la revista: BIOLOGIA MOLECULAR Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido