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Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.
Spielmann, Malte; Kakar, Naseebullah; Tayebi, Naeimeh; Leettola, Catherine; Nürnberg, Gudrun; Sowada, Nadine; Lupiáñez, Darío G; Harabula, Izabela; Flöttmann, Ricarda; Horn, Denise; Chan, Wing Lee; Wittler, Lars; Yilmaz, Rüstem; Altmüller, Janine; Thiele, Holger; van Bokhoven, Hans; Schwartz, Charles E; Nürnberg, Peter; Bowie, James U; Ahmad, Jamil; Kubisch, Christian; Mundlos, Stefan; Borck, Guntram.
Afiliação
  • Spielmann M; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), 13353 Berlin, Germany;
  • Kakar N; Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany; International Graduate School in Molecular Medicine Ulm, University of Ulm, 89081 Ulm, Germany; Department of Biotechnology and Informatics, BUITEMS, Quetta, 57789 Pakistan;
  • Tayebi N; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany;
  • Leettola C; Department of Chemistry and Biochemistry, UCLA-DOE Institute of Genomics and Proteomics, University of California, Los Angeles, Los Angeles, California 90095, USA;
  • Nürnberg G; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany;
  • Sowada N; Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany; International Graduate School in Molecular Medicine Ulm, University of Ulm, 89081 Ulm, Germany;
  • Lupiáñez DG; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), 13353 Berlin, Germany;
  • Harabula I; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany;
  • Flöttmann R; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany;
  • Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany;
  • Chan WL; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany;
  • Wittler L; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany;
  • Yilmaz R; Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany; International Graduate School in Molecular Medicine Ulm, University of Ulm, 89081 Ulm, Germany;
  • Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany;
  • Thiele H; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany;
  • van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands;
  • Schwartz CE; J.C. Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA;
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, German
  • Bowie JU; Department of Chemistry and Biochemistry, UCLA-DOE Institute of Genomics and Proteomics, University of California, Los Angeles, Los Angeles, California 90095, USA;
  • Ahmad J; Department of Biotechnology and Informatics, BUITEMS, Quetta, 57789 Pakistan;
  • Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Mundlos S; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin-Brandenburg School for Regenerative Therapies (BSRT), 13353 Berlin, Germany;
  • Borck G; Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany;
Genome Res ; 26(2): 183-91, 2016 Feb.
Article em En | MEDLINE | ID: mdl-26755636
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Quinases / Deformidades Congênitas dos Membros / MAP Quinase Quinase Quinases Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2016 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Quinases / Deformidades Congênitas dos Membros / MAP Quinase Quinase Quinases Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2016 Tipo de documento: Article