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HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Hirsch, Naama; Dahan, Idit; D'haene, Eva; Avni, Matan; Vergult, Sarah; Vidal-García, Marta; Magini, Pamela; Graziano, Claudio; Severi, Giulia; Bonora, Elena; Nardone, Anna Maria; Brancati, Francesco; Fernández-Jaén, Alberto; Rory, Olson J; Hallgrímsson, Benedikt; Birnbaum, Ramon Y.
Afiliação
  • Hirsch N; Department of Life Sciences, Faculty of Natural Sciences, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.
  • Dahan I; Center of Evolutionary Genomics and Medicine, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.
  • D'haene E; Department of Life Sciences, Faculty of Natural Sciences, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.
  • Avni M; Center of Evolutionary Genomics and Medicine, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.
  • Vergult S; Center for Medical Genetics, Ghent University, 9000, Ghent, Belgium.
  • Vidal-García M; Department of Life Sciences, Faculty of Natural Sciences, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.
  • Magini P; Center of Evolutionary Genomics and Medicine, The Ben-Gurion University of the Negev, Beer-Sheva, 84105, Israel.
  • Graziano C; Center for Medical Genetics, Ghent University, 9000, Ghent, Belgium.
  • Severi G; Department of Cell Biology and Anatomy, Alberta Children's Hospital Research Institute, University of Calgary, T2N 1N4, Calgary, Alberta, Canada.
  • Bonora E; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.
  • Nardone AM; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.
  • Brancati F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.
  • Fernández-Jaén A; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138, Bologna, Italy.
  • Rory OJ; Department of Medical and Surgical Sciences, University of Bologna, 40126, Bologna, Italy.
  • Hallgrímsson B; Medical Genetics Unit, Policlinico Tor Vergata University Hospital, 00133, Rome, Italy.
  • Birnbaum RY; Department of Life, Health and Environmental Sciences, University of L'Aquila, 67100, L'Aquila, Italy.
Genome Res ; 32(7): 1242-1253, 2022 07.
Article em En | MEDLINE | ID: mdl-35710300
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Proteínas Nucleares / Polidactilia / Craniossinostoses / Proteína 1 Relacionada a Twist / Histona Desacetilases Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Proteínas Nucleares / Polidactilia / Craniossinostoses / Proteína 1 Relacionada a Twist / Histona Desacetilases Idioma: En Ano de publicação: 2022 Tipo de documento: Article