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Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo.
Cukrov, Dubravka; Newman, Trent A C; Leask, Megan; Leeke, Bryony; Sarogni, Patrizia; Patimo, Alessandra; Kline, Antonie D; Krantz, Ian D; Horsfield, Julia A; Musio, Antonio.
Afiliação
  • Cukrov D; Institute for Genetic and Biomedical Research, National Research Council, Pisa, Italy.
  • Newman TAC; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Leask M; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Leeke B; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Sarogni P; Institute for Genetic and Biomedical Research, National Research Council, Pisa, Italy.
  • Patimo A; Institute for Genetic and Biomedical Research, National Research Council, Pisa, Italy.
  • Kline AD; Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.
  • Krantz ID; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Horsfield JA; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
  • Musio A; The Maurice Wilkins Centre for Molecular Biodiscovery, c/o The University of Auckland, Private Bag, Auckland, New Zealand.
Hum Mol Genet ; 27(17): 3002-3011, 2018 09 01.
Article em En | MEDLINE | ID: mdl-29860495
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Biomarcadores / Regulação da Expressão Gênica / Estresse Oxidativo / Proteínas de Ciclo Celular / Síndrome de Cornélia de Lange / Mutação / Antioxidantes Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Cromossômicas não Histona / Biomarcadores / Regulação da Expressão Gênica / Estresse Oxidativo / Proteínas de Ciclo Celular / Síndrome de Cornélia de Lange / Mutação / Antioxidantes Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Ano de publicação: 2018 Tipo de documento: Article