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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.
Chassaing, Nicolas; Davis, Erica E; McKnight, Kelly L; Niederriter, Adrienne R; Causse, Alexandre; David, Véronique; Desmaison, Annaïck; Lamarre, Sophie; Vincent-Delorme, Catherine; Pasquier, Laurent; Coubes, Christine; Lacombe, Didier; Rossi, Massimiliano; Dufier, Jean-Louis; Dollfus, Helene; Kaplan, Josseline; Katsanis, Nicholas; Etchevers, Heather C; Faguer, Stanislas; Calvas, Patrick.
Afiliação
  • Chassaing N; CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, 31059 Toulouse, France; Université Paul-Sabatier Toulouse III, EA-4555, 31000 Toulouse, France; Inserm U1056, 31000 Toulouse, France;
  • Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina 27701, USA; Department of Pediatrics and Department of Cell Biology, Duke University Medical Center, Durham, North Carolina 27701, USA;
  • McKnight KL; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina 27701, USA;
  • Niederriter AR; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina 27701, USA;
  • Causse A; Université Paul-Sabatier Toulouse III, EA-4555, 31000 Toulouse, France; CHU Toulouse, Service d'Ophtalmologie, Hôpital Purpan, 31059 Toulouse, France;
  • David V; Institut de Génétique et Développement, CNRS UMR6290, Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, 35043 Rennes, France; Laboratoire de Génétique Moléculaire, CHU Pontchaillou, 35043 Rennes Cedex, France;
  • Desmaison A; Université Paul-Sabatier Toulouse III, EA-4555, 31000 Toulouse, France;
  • Lamarre S; Université de Toulouse; INSA, UPS, INP, LISBP, F-31077 Toulouse, France; INRA, UMR792, Ingénierie des Systèmes Biologiques et des Procédés, F-31400 Toulouse, France; CNRS, UMR5504, F-31400 Toulouse, France; Plateforme Biopuces de la Génopole de Toulouse Midi Pyrénées, INSA/DGBA 135, 31077 Toulouse,
  • Vincent-Delorme C; Service de Génétique Médicale, Hôpital Jeanne de Flandre, 59037 Lille, France;
  • Pasquier L; Service de Génétique Clinique, Hôpital Sud, 35200 Rennes, France;
  • Coubes C; Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, 34295 Montpellier, France;
  • Lacombe D; Service de Génétique Médicale, Hôpital Pellegrin, 33076 Bordeaux Cedex, France; Université Bordeaux Segalen, Laboratoire MRGM, 33076 Bordeaux, France;
  • Rossi M; Service de Génétique, Hospices Civils de Lyon, Groupement Hospitalier Est, 69677 Bron, France; INSERM U1028 UMR CNRS 5292, UCBL, CRNL TIGER Team, 69677 Bron Cedex, France;
  • Dufier JL; Service d'Ophtalmologie, Hôpital Necker Enfants Malades, 75015 Paris, France;
  • Dollfus H; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France;
  • Kaplan J; INSERM U781 & Department of Genetics, Paris Descartes University, 75015 Paris, France;
  • Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina 27701, USA; Department of Pediatrics and Department of Cell Biology, Duke University Medical Center, Durham, North Carolina 27701, USA;
  • Etchevers HC; Université Paul-Sabatier Toulouse III, EA-4555, 31000 Toulouse, France; INSERM, UMR_S910, Aix-Marseille University, Faculté de Médecine, 13385 Marseille, France;
  • Faguer S; INSERM unit 1048, I2MC, Team 12, 31432 Toulouse, France.
  • Calvas P; CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, 31059 Toulouse, France; Université Paul-Sabatier Toulouse III, EA-4555, 31000 Toulouse, France; Inserm U1056, 31000 Toulouse, France;
Genome Res ; 26(4): 474-85, 2016 Apr.
Article em En | MEDLINE | ID: mdl-26893459
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades do Olho / Regulação da Expressão Gênica / Redes Reguladoras de Genes / Fatores de Transcrição SOXB1 / Receptor Patched-1 Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades do Olho / Regulação da Expressão Gênica / Redes Reguladoras de Genes / Fatores de Transcrição SOXB1 / Receptor Patched-1 Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2016 Tipo de documento: Article País de publicação: Estados Unidos