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MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
Parenti, Ilaria; Diab, Farah; Gil, Sara Ruiz; Mulugeta, Eskeatnaf; Casa, Valentina; Berutti, Riccardo; Brouwer, Rutger W W; Dupé, Valerie; Eckhold, Juliane; Graf, Elisabeth; Puisac, Beatriz; Ramos, Feliciano; Schwarzmayr, Thomas; Gines, Macarena Moronta; van Staveren, Thomas; van IJcken, Wilfred F J; Strom, Tim M; Pié, Juan; Watrin, Erwan; Kaiser, Frank J; Wendt, Kerstin S.
Afiliación
  • Parenti I; Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany; Institute of Science and Technology (IST) Austria, Klosterneuburg, Austria.
  • Diab F; Centre National de la Recherche Scientifique, UMR6290, Rennes, France; Institut de Génétique et Développement de Rennes, Université de Rennes, Rennes, France.
  • Gil SR; Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany.
  • Mulugeta E; Department of Cell Biology, Erasmus MC, Rotterdam, the Netherlands.
  • Casa V; Department of Cell Biology, Erasmus MC, Rotterdam, the Netherlands.
  • Berutti R; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Brouwer RWW; Erasmus MC, University Medical Center Rotterdam, Department of Cell Biology, Center for Biomics, the Netherlands.
  • Dupé V; Centre National de la Recherche Scientifique, UMR6290, Rennes, France; Institut de Génétique et Développement de Rennes, Université de Rennes, Rennes, France.
  • Eckhold J; Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
  • Graf E; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Puisac B; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, 50009 Zaragoza, Spain.
  • Ramos F; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, 50009 Zaragoza, Spain.
  • Schwarzmayr T; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Gines MM; Department of Cell Biology, Erasmus MC, Rotterdam, the Netherlands.
  • van Staveren T; Department of Cell Biology, Erasmus MC, Rotterdam, the Netherlands.
  • van IJcken WFJ; Erasmus MC, University Medical Center Rotterdam, Department of Cell Biology, Center for Biomics, the Netherlands.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Pié J; Unit of Clinical Genetics and Functional Genomics, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV02 and ISS-Aragon, 50009 Zaragoza, Spain.
  • Watrin E; Centre National de la Recherche Scientifique, UMR6290, Rennes, France; Institut de Génétique et Développement de Rennes, Université de Rennes, Rennes, France.
  • Kaiser FJ; Sektion für Funktionelle Genetik am Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany; DZHK e.V. (German Center for Cardiovascular Research), Partner Site Hamburg/Kiel/Lübeck, Lü
  • Wendt KS; Department of Cell Biology, Erasmus MC, Rotterdam, the Netherlands. Electronic address: k.wendt@erasmusmc.nl.
Cell Rep ; 31(7): 107647, 2020 05 19.
Article en En | MEDLINE | ID: mdl-32433956
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variación Genética / Proteínas Cromosómicas no Histona / Proteínas de Ciclo Celular / Síndrome de Cornelia de Lange / Proteínas de Unión al ADN Idioma: En Revista: Cell Rep Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variación Genética / Proteínas Cromosómicas no Histona / Proteínas de Ciclo Celular / Síndrome de Cornelia de Lange / Proteínas de Unión al ADN Idioma: En Revista: Cell Rep Año: 2020 Tipo del documento: Article