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CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Hjeij, Rim; Onoufriadis, Alexandros; Watson, Christopher M; Slagle, Christopher E; Klena, Nikolai T; Dougherty, Gerard W; Kurkowiak, Malgorzata; Loges, Niki T; Diggle, Christine P; Morante, Nicholas F C; Gabriel, George C; Lemke, Kristi L; Li, You; Pennekamp, Petra; Menchen, Tabea; Konert, Franziska; Marthin, June Kehlet; Mans, Dorus A; Letteboer, Stef J F; Werner, Claudius; Burgoyne, Thomas; Westermann, Cordula; Rutman, Andrew; Carr, Ian M; O'Callaghan, Christopher; Moya, Eduardo; Chung, Eddie M K; Sheridan, Eamonn; Nielsen, Kim G; Roepman, Ronald; Bartscherer, Kerstin; Burdine, Rebecca D; Lo, Cecilia W; Omran, Heymut; Mitchison, Hannah M.
Afiliação
  • Hjeij R; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Onoufriadis A; Genetics and Genomic Medicine Programme, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK.
  • Watson CM; Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds LS9 7TF, UK; Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK.
  • Slagle CE; Department of Molecular Biology, Princeton University, Washington Road, Princeton, NJ 08544, USA.
  • Klena NT; Department of Developmental Biology, University of Pittsburgh, Pittsburgh, PA 15201, USA.
  • Dougherty GW; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Kurkowiak M; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany; International Institute of Molecular and Cell Biology, Trojdena 4, 02-109 Warsaw, Poland; Department of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Strzes
  • Loges NT; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Diggle CP; Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK.
  • Morante NF; Department of Molecular Biology, Princeton University, Washington Road, Princeton, NJ 08544, USA.
  • Gabriel GC; Department of Developmental Biology, University of Pittsburgh, Pittsburgh, PA 15201, USA.
  • Lemke KL; Department of Developmental Biology, University of Pittsburgh, Pittsburgh, PA 15201, USA.
  • Li Y; Department of Developmental Biology, University of Pittsburgh, Pittsburgh, PA 15201, USA.
  • Pennekamp P; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Menchen T; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Konert F; Max Planck Research Group on Stem Cells & Regeneration, Max Planck Institute for Molecular Biomedicine, and Medical Faculty, University of Muenster, 48149 Muenster, Germany.
  • Marthin JK; Danish PCD Centre and Pediatrics Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.
  • Mans DA; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Letteboer SJ; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Werner C; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Burgoyne T; UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK.
  • Westermann C; Gerhard-Domagk-Institut for Pathology, University Children's Hospital Muenster, 48149 Muenster, Germany.
  • Rutman A; Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester LE2 7LX, UK.
  • Carr IM; Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK.
  • O'Callaghan C; Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester LE2 7LX, UK; Respiratory, Critical Care & Anaesthesia, Institute of Child Health, University College London & Great Ormond Street Children's Hospital, 30 Guilf
  • Moya E; Bradford Royal Infirmary, Bradford, West Yorkshire BD9 6R, UK.
  • Chung EM; General and Adolescent Paediatrics Section, Population, Policy and Practice Programme, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK.
  • Sheridan E; Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds LS9 7TF, UK.
  • Nielsen KG; Danish PCD Centre and Pediatrics Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark.
  • Roepman R; Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB Nijmegen, the Netherlands.
  • Bartscherer K; Max Planck Research Group on Stem Cells & Regeneration, Max Planck Institute for Molecular Biomedicine, and Medical Faculty, University of Muenster, 48149 Muenster, Germany.
  • Burdine RD; Department of Molecular Biology, Princeton University, Washington Road, Princeton, NJ 08544, USA.
  • Lo CW; Department of Developmental Biology, University of Pittsburgh, Pittsburgh, PA 15201, USA.
  • Omran H; Department of General Pediatrics, University Children's Hospital Muenster, 48149 Muenster, Germany. Electronic address: heymut.omran@ukmuenster.de.
  • Mitchison HM; Genetics and Genomic Medicine Programme, University College London (UCL) Institute of Child Health, London WC1N 1EH, UK.
Am J Hum Genet ; 95(3): 257-74, 2014 Sep 04.
Article em En | MEDLINE | ID: mdl-25192045
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Animals / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article