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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Kumar, Raman; Corbett, Mark A; van Bon, Bregje W M; Woenig, Joshua A; Weir, Lloyd; Douglas, Evelyn; Friend, Kathryn L; Gardner, Alison; Shaw, Marie; Jolly, Lachlan A; Tan, Chuan; Hunter, Matthew F; Hackett, Anna; Field, Michael; Palmer, Elizabeth E; Leffler, Melanie; Rogers, Carolyn; Boyle, Jackie; Bienek, Melanie; Jensen, Corinna; Van Buggenhout, Griet; Van Esch, Hilde; Hoffmann, Katrin; Raynaud, Martine; Zhao, Huiying; Reed, Robin; Hu, Hao; Haas, Stefan A; Haan, Eric; Kalscheuer, Vera M; Gecz, Jozef.
Afiliação
  • Kumar R; School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.
  • Corbett MA; School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.
  • van Bon BW; School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
  • Woenig JA; School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.
  • Weir L; School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.
  • Douglas E; Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.
  • Friend KL; Genetics and Molecular Pathology, SA Pathology, North Adelaide, SA 5006, Australia.
  • Gardner A; School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.
  • Shaw M; School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.
  • Jolly LA; School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.
  • Tan C; School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.
  • Hunter MF; Monash Genetics, Monash Medical Centre, Clayton, VIC 3168, Australia; Department of Paediatrics, Monash University, Clayton, VIC 3168, Australia.
  • Hackett A; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
  • Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
  • Palmer EE; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
  • Leffler M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
  • Rogers C; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
  • Boyle J; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
  • Bienek M; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany.
  • Jensen C; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany.
  • Van Buggenhout G; Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium.
  • Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium.
  • Hoffmann K; Institute of Human Genetics, Martin Luther University Halle-Wittenberg, Magdeburger Strasse 2, 06112 Halle (Saale), Germany.
  • Raynaud M; INSERM U930, Imaging and Brain, François-Rabelais University, 37000 Tours, France; INSERM U930, Service de Génétique, Centre Hospitalier Régional Universitaire, 37000 Tours, France.
  • Zhao H; QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
  • Reed R; Department of Cell Biology, Harvard Medical School, Harvard University, Boston, MA 02115, USA.
  • Hu H; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany.
  • Haas SA; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany.
  • Haan E; School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; South Australian Clinical Genetics Service, SA Pathology, North Adelaide, SA 5006, Australia.
  • Kalscheuer VM; Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany.
  • Gecz J; School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address: jozef.gecz@adelaide.edu.au.
Am J Hum Genet ; 97(2): 302-10, 2015 Aug 06.
Article em En | MEDLINE | ID: mdl-26166480
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: RNA Mensageiro / Modelos Moleculares / Proteínas de Ligação a RNA / Mutação de Sentido Incorreto / Transporte Ativo do Núcleo Celular / Cromossomos Humanos X / Deficiência Intelectual Ligada ao Cromossomo X Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Austrália País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: RNA Mensageiro / Modelos Moleculares / Proteínas de Ligação a RNA / Mutação de Sentido Incorreto / Transporte Ativo do Núcleo Celular / Cromossomos Humanos X / Deficiência Intelectual Ligada ao Cromossomo X Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Austrália País de publicação: Estados Unidos