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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese, Chiara; Patel, Mitali P; Shoemark, Amelia; Kiviluoto, Santeri; Legendre, Marie; Williams, Hywel J; Vaughan, Cara K; Hayward, Jane; Goldenberg, Alice; Emes, Richard D; Munye, Mustafa M; Dyer, Laura; Cahill, Thomas; Bevillard, Jeremy; Gehrig, Corinne; Guipponi, Michel; Chantot, Sandra; Duquesnoy, Philippe; Thomas, Lucie; Jeanson, Ludovic; Copin, Bruno; Tamalet, Aline; Thauvin-Robinet, Christel; Papon, Jean-François; Garin, Antoine; Pin, Isabelle; Vera, Gabriella; Aurora, Paul; Fassad, Mahmoud R; Jenkins, Lucy; Boustred, Christopher; Cullup, Thomas; Dixon, Mellisa; Onoufriadis, Alexandros; Bush, Andrew; Chung, Eddie M K; Antonarakis, Stylianos E; Loebinger, Michael R; Wilson, Robert; Armengot, Miguel; Escudier, Estelle; Hogg, Claire; Amselem, Serge; Sun, Zhaoxia; Bartoloni, Lucia; Blouin, Jean-Louis; Mitchison, Hannah M.
Affiliation
  • Olcese C; Department of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 Geneva, Switzerland.
  • Patel MP; Department of Life Sciences and Biotechnologies, University of Ferrara, 46-44121 Ferrara, Italy.
  • Shoemark A; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
  • Kiviluoto S; Paediatric Department, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK.
  • Legendre M; Department of Genetics, Yale University School of Medicine, 333 Cedar Street, New Haven, Connecticut 06520, USA.
  • Williams HJ; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
  • Vaughan CK; GOSgene, Genetics and Genomic Medicine Programme, University College London (UCL) Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
  • Hayward J; Institute of Structural and Molecular Biology, University College London and Birkbeck College, Biological Sciences, Malet Street, London, WC1E 7HX, UK.
  • Goldenberg A; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
  • Emes RD; Service de Génétique, CHU de Rouen, INSERM U1079, Université de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée, Rouen, France.
  • Munye MM; School of Veterinary Medicine and Science, University of Nottingham, Sutton Bonington Campus, Leicestershire LE12 5RD, UK.
  • Dyer L; Advanced Data Analysis Centre, University of Nottingham, Sutton Bonington Campus, Leicestershire LE12 5RD, UK.
  • Cahill T; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
  • Bevillard J; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
  • Gehrig C; Paediatric Department, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK.
  • Guipponi M; Department of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 Geneva, Switzerland.
  • Chantot S; Department of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 Geneva, Switzerland.
  • Duquesnoy P; Department of Genetic Medicine and Development, University of Geneva School of Medicine, CH-1211 Geneva, Switzerland.
  • Thomas L; Department of Genetic Medicine and Laboratory, University Hospitals of Geneva, CH-1211 Geneva, Switzerland.
  • Jeanson L; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
  • Copin B; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
  • Tamalet A; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
  • Thauvin-Robinet C; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
  • Papon JF; Sorbonne Universités, UPMC Univ Paris 06, INSERM UMR_S933 and Service de Génétique et Embryologie Médicales, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
  • Garin A; Service de Pneumologie Pédiatrique, Centre National de Référence des Maladies Respiratoires Rares, Hôpital Armand-Trousseau, AP-HP, Paris 75012, France.
  • Pin I; Centre de génétique, CHU Dijon Bourgogne, Équipe EA4271 GAD, Université de Bourgogne, Hôpital François Mitterrand, 21000 Dijon, France.
  • Vera G; Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Maxillo-Faciale, Hôpital Bicêtre, AP-HP, Le Kremlin-Bicêtre 94275, France.
  • Aurora P; Service d'Oto-Rhino-Laryngologie et de Chirurgie Cervico-Maxillo-Faciale, Hôpital Bicêtre, AP-HP, Le Kremlin-Bicêtre 94275, France.
  • Fassad MR; Pédiatrie, CHU Grenoble Alpes, INSERM U 1209, Institut for Advanced Biosciences, Université Grenoble Alpes, Grenoble, France.
  • Jenkins L; Service de Génétique, CHU de Rouen, INSERM U1079, Université de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée, Rouen, France.
  • Boustred C; Department of Paediatric Respiratory Medicine, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
  • Cullup T; Department of Respiratory, Critical Care and Anaesthesia Unit, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
  • Dixon M; Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
  • Onoufriadis A; Human Genetics Department, Medical Research Institute, Alexandria University, El-Hadra Alexandria 21561, Egypt.
  • Bush A; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square, London WC1N 3BH, UK.
  • Chung EM; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square, London WC1N 3BH, UK.
  • Antonarakis SE; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, Queen Square, London WC1N 3BH, UK.
  • Loebinger MR; Paediatric Department, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK.
  • Wilson R; Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK.
  • Armengot M; Paediatric Department, Royal Brompton Hospital, Sydney Street, London SW3 6NP, UK.
  • Escudier E; Department of Paediatric Respiratory Medicine, National Heart and Lung Institute, Imperial College London, London SW3 6LR, UK.
  • Hogg C; Population, Policy and Practice, University College London (UCL) Great Ormond Street Institute of Child Health, Guilford Street, London WC1N 1EH, UK.
  • Amselem S; Department of Genetic Medicine and Laboratory, University Hospitals of Geneva, CH-1211 Geneva, Switzerland.
  • Sun Z; Institute of Genetics and Genomics in Geneva, iGE3, CH-1211 Geneva, Switzerland.
  • Bartoloni L; Host Defence Unit, Respiratory Medicine, Royal Brompton Hospital, London SW3 6NP, UK.
  • Blouin JL; Host Defence Unit, Respiratory Medicine, Royal Brompton Hospital, London SW3 6NP, UK.
  • Mitchison HM; Rhinology and Primary Ciliary Dyskinesia Unit, General and University Hospital, Medical School, Valencia University, Valencia E-46014, Spain.
Nat Commun ; 8: 14279, 2017 02 08.
Article in En | MEDLINE | ID: mdl-28176794
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Full text: 1 Database: MEDLINE Main subject: Kartagener Syndrome / Molecular Chaperones / Genetic Diseases, X-Linked / Apoptosis Regulatory Proteins / Genes, X-Linked / Axonemal Dyneins / Microtubule Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male / Newborn Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2017 Type: Article Affiliation country: Switzerland
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Full text: 1 Database: MEDLINE Main subject: Kartagener Syndrome / Molecular Chaperones / Genetic Diseases, X-Linked / Apoptosis Regulatory Proteins / Genes, X-Linked / Axonemal Dyneins / Microtubule Proteins Type of study: Prognostic_studies Limits: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male / Newborn Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2017 Type: Article Affiliation country: Switzerland