Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms-Reference-Cited by-同舟云学术

Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Published:2013-03 Issue:3 Volume:34 Page:462-472
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Antony Dinu¹,Becker-Heck Anita²,Zariwala Maimoona A.³,Schmidts Miriam¹,Onoufriadis Alexandros¹,Forouhan Mitra¹,Wilson Robert⁴,Taylor-Cox Theresa⁵,Dewar Ann⁵,Jackson Claire⁶,Goggin Patricia⁶,Loges Niki T.²,Olbrich Heike²,Jaspers Martine⁷,Jorissen Mark⁷,Leigh Margaret W.⁸,Wolf Whitney E.⁹,Daniels M. Leigh Anne⁹,Noone Peadar G.⁹,Ferkol Thomas W.¹⁰,Sagel Scott D.¹¹,Rosenfeld Margaret¹²,Rutman Andrew¹³,Dixit Abhijit¹⁴,O'Callaghan Christopher¹³,Lucas Jane S.⁶,Hogg Claire⁵,Scambler Peter J.¹,Emes Richard D.¹⁵,UKK ¹⁶,Chung Eddie M.K.¹⁷,Shoemark Amelia⁵,Knowles Michael R.⁹,Omran Heymut²,Mitchison Hannah M.¹

Affiliation:

1. Molecular Medicine Unit and Birth Defects Research Centre; University College London (UCL) Institute of Child Health; London; UK

2. Department of Pediatrics and Adolescent Medicine; University Hospital Muenster; Muenster; Germany

3. Department of Pathology and Laboratory Medicine; UNC School of Medicine; Chapel Hill; North Carolina

4. Respiratory Medicine, Royal Brompton and Harefield NHS Trust; London; UK

5. Department of Paediatric Respiratory Medicine and Electron Microscopy Unit; Royal Brompton and Harefield NHS Trust; London; UK

6. Primary Ciliary Dyskinesia Group, University of Southampton Faculty of Medicine; Southampton NIHR Respiratory Biomedical Research Unit, Southampton General Hospital; Southampton; UK

7. University Hospitals Leuven, Department of Otorhinolaryngology; Leuven; Belgium

8. Department of Pediatrics, UNC School of Medicine; Chapel Hill; North Carolina

9. Department of Medicine, UNC School of Medicine; Chapel Hill; North Carolina

10. Department of Pediatrics, Washington University School of Medicine; St. Louis; Missouri

11. Department of Pediatrics, University of Colorado School of Medicine; Aurora; Colorado

12. Children's Hospital and Regional Medical Center; Seattle; Washington

13. Department of Infection, Immunity and Inflammation; University of Leicester, Leicester Royal Infirmary; Leicester; UK

14. Department of Clinical Genetics, Nottingham City Hospital; Nottingham; UK

15. School of Veterinary Medicine and Science, University of Nottingham; Leicestershire; UK

16. uk10k.org.uk

17. General and Adolescent Paediatric Unit; University College London (UCL) Institute of Child Health; London; UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22261/fullpdf

Reference59 articles.

1. A map of human genome variation from population-scale sequencing;1000 Genomes Project Consortium;Nature,2010

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

3. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs;Altschul;Nucleic Acids Res,1997

4. Immotile cilia syndrome: radial spokes deficiency in a patient with Kartagener's triad;Antonelli;Acta Paediatr Scand,1981

5. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia;Bartoloni;Proc Natl Acad Sci USA,2002

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