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TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Harley, Margaret E; Murina, Olga; Leitch, Andrea; Higgs, Martin R; Bicknell, Louise S; Yigit, Gökhan; Blackford, Andrew N; Zlatanou, Anastasia; Mackenzie, Karen J; Reddy, Kaalak; Halachev, Mihail; McGlasson, Sarah; Reijns, Martin A M; Fluteau, Adeline; Martin, Carol-Anne; Sabbioneda, Simone; Elcioglu, Nursel H; Altmüller, Janine; Thiele, Holger; Greenhalgh, Lynn; Chessa, Luciana; Maghnie, Mohamad; Salim, Mahmoud; Bober, Michael B; Nürnberg, Peter; Jackson, Stephen P; Hurles, Matthew E; Wollnik, Bernd; Stewart, Grant S; Jackson, Andrew P.
Afiliación
  • Harley ME; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Murina O; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Leitch A; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Higgs MR; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
  • Bicknell LS; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Yigit G; Institute of Human Genetics, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
  • Blackford AN; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.
  • Zlatanou A; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany.
  • Mackenzie KJ; The Gurdon Institute, University of Cambridge, Cambridge, CB2 1QN, UK.
  • Reddy K; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, B15 2TT, UK.
  • Halachev M; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • McGlasson S; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Reijns MAM; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Fluteau A; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Martin CA; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Sabbioneda S; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Elcioglu NH; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, EH4 2XU, UK.
  • Altmüller J; Istituto di Genetica Molecolare, CNR, 27100 Pavia, Italy.
  • Thiele H; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
  • Greenhalgh L; Institute of Human Genetics, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.
  • Chessa L; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany.
  • Maghnie M; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany.
  • Salim M; Cheshire and Merseyside Clinical Genetics Service, Liverpool Women's Hospital, Liverpool, L12 2AP, UK.
  • Bober MB; Department of Clinical and Molecular Medicine, University Sapienza, A.O.S. Andrea, I-00189 Roma, Italy.
  • Nürnberg P; Department of Pediatrics, IRCCS, Giannina Gaslini, University of Genova, 16147 Genova, Italy.
  • Jackson SP; Department of Pediatric Genetics, Marmara University Pendik Hospital, Istanbul, Turkey.
  • Hurles ME; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.
  • Wollnik B; Center for Molecular Medicine Cologne (CMMC), University of Cologne, 50931 Cologne, Germany.
  • Stewart GS; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany.
  • Jackson AP; Cologne Center for Genomics (CCG), University of Cologne, 50931 Cologne, Germany.
Nat Genet ; 48(1): 36-43, 2016 Jan.
Article en En | MEDLINE | ID: mdl-26595769
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Daño del ADN / Ubiquitina-Proteína Ligasas / Péptidos y Proteínas Asociados a Receptores de Factores de Necrosis Tumoral / Enanismo / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Daño del ADN / Ubiquitina-Proteína Ligasas / Péptidos y Proteínas Asociados a Receptores de Factores de Necrosis Tumoral / Enanismo / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Estados Unidos