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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Penulis :

Edgar A Otto1, Toby W Hurd1, Rannar Airik1, Moumita Chaki1, Weibin Zhou1, Corinne Stoetzel2, Suresh B Patil3, Shawn Levy4, Amiya K Ghosh1, Carlos A Murga-Zamalloa3, Jeroen van Reeuwijk5, Stef J F Letteboer5, Liyun Sang6, Rachel H Giles7, Qin Liu8, Karlien L M Coene5, Alejandro Estrada-Cuzcano5, Rob W J Collin5, Heather M McLaughlin1,9, Susanne Held1, Jennifer M Kasanuki1, Gokul Ramaswami1, Jinny Conte10, Irma Lopez10, Joseph Washburn11, James MacDonald1, Jinghua Hu12, Yukiko Yamashita13, Eamonn R Maher14, Lisa M Guay-Woodford15, Hartmut P H Neumann16, Nicholas Obermüller17, Robert K Koenekoop10, Carsten Bergmann18, Xiaoshu Bei19,20,21, Richard A Lewis22, Nicholas Katsanis19,20,21, Vanda Lopes23, David S Williams23, Robert H Lyons24, Chi V Dang25, Daniela A Brito26, Mónica Bettencourt Dias26, Xinmin Zhang27, James D Cavalcoli28, Gudrun Nürnberg29,30,31, Peter Nürnberg29,30,31, Eric A Pierce8, Peter K Jackson6, Corinne Antignac32,33, Sophie Saunier32, Ronald Roepman5,34, Helene Dollfus2,35, Hemant Khanna3 and Friedhelm Hildebrandt1,9,36

Afiliasi :

  1. Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA.
  2. Laboratoire de Génétique Médicale EA3949, Equipe AVENIR-Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France.
  3. Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA.
  4. HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
  5. Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  6. Department of Cell Regulation, Genentech Inc., South San Francisco, California, USA.
  7. Department of Medical Oncology, University Medical Center, Utrecht, The Netherlands.
  8. F.M. Kirby Center for Molecular Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.
  9. Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  10. McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada.
  11. University of Michigan Comprehensive Cancer Center, University of Michigan, Ann Arbor, Michigan, USA.
  12. Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, USA.
  13. Department of Cell and Developmental Biology, University of Michigan, Michigan, USA.
  14. Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine and Centre for Rare Diseases and Personalised Medicine, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, UK.
  15. UAB Center for Clinical and Translational Science, University of Alabama at Birmingham, Birmingham, Alabama, USA.
  16. Department of Nephrology and General Medicine, University Medical Center, Albert-Ludwigs-University, Freiburg, Germany.
  17. Department of Nephrology, III. Medical Clinic, University Hospital, Frankfurt, Germany.
  18. Department of Human Genetics, Rheinisch-Westfälische Technische Hochschule (RWTH) Aachen University, Aachen, Germany.
  19. Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, USA.
  20. Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, USA.
  21. Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
  22. Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, USA.
  23. Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California, USA.
  24. Department of Biological Chemistry and DNA Sequencing Core, University of Michigan, Ann Arbor, Michigan, USA.
  25. Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
  26. Instituto Gulbenkian de Ciência, Oeiras, Portugal.
  27. Roche NimbleGen, Inc., Madison, Wisconsin, USA.
  28. Center for Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, Michigan, USA.
  29. Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  30. Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  31. Cologne Excellence Cluster on Cellular Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.
  32. Department of Genetics, Hôpital Necker-Enfants Malades, Assistance Publique–Hôpitaux de Paris, Paris, France.
  33. INSERM U-983, Hôpital Necker-Enfants Malades, Université Paris Descartes, Paris, France.
  34. Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
  35. Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  36. Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.

DOI:10.1038/ng.662
Penerbit:Nature Genetics
Tahun:September 2010
Download:Supplementary Text and Figures (2.0 MB)
Deskripsi:Exome capture untuk mengidentifikasi gen baru yang terlibat dalam penyakit warisan keluarga kepada anak
Baca Artikel:Exome Capture Identifikasi Mutasi SDCCAG8 Penyebab Retinal Renal Ciliopathy

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