Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Musfee, Fadi I; Guo, Dongchuan; Pinard, Amélie C; Hostetler, Ellen M; Blue, Elizabeth E; Nickerson, Deborah A; Bamshad, Michael J; Milewicz, Dianna M; Prakash, Siddharth K

Musfee, Fadi I; Guo, Dongchuan; Pinard, Amélie C; Hostetler, Ellen M; Blue, Elizabeth E; Nickerson, Deborah A; Bamshad, Michael J; Milewicz, Dianna M; Prakash, Siddharth K.

Afiliação

Musfee FI; Department of Epidemiology, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA.
Guo D; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
Pinard AC; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
Hostetler EM; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.
Blue EE; Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.
Nickerson DA; Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Bamshad MJ; Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Milewicz DM; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.
Prakash SK; Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, TX, USA.

Mol Genet Genomic Med ; 8(10): e1406, 2020 10.

Article em En | MEDLINE | ID: mdl-32748548

Assuntos

Aneurisma da Aorta Torácica/genética; Doença da Válvula Aórtica Bicúspide/genética; Fator de Transcrição GATA4/genética; Receptor Notch1/genética; Receptores de Superfície Celular/genética; Proteína Smad6/genética; Adulto; Aneurisma da Aorta Torácica/complicações; Aneurisma da Aorta Torácica/patologia; Doença da Válvula Aórtica Bicúspide/complicações; Doença da Válvula Aórtica Bicúspide/patologia; Feminino; Frequência do Gene; Humanos; Masculino; Pessoa de Meia-Idade; Mutação

Palavras-chave

bicuspid aortic valve; thoracic aortic aneurysm; whole exome sequence

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aneurisma da Aorta Torácica / Receptores de Superfície Celular / Proteína Smad6 / Fator de Transcrição GATA4 / Receptor Notch1 / Doença da Válvula Aórtica Bicúspide Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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