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Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.
Wünnemann, Florian; Ta-Shma, Asaf; Preuss, Christoph; Leclerc, Severine; van Vliet, Patrick Piet; Oneglia, Andrea; Thibeault, Maryse; Nordquist, Emily; Lincoln, Joy; Scharfenberg, Franka; Becker-Pauly, Christoph; Hofmann, Philipp; Hoff, Kirstin; Audain, Enrique; Kramer, Hans-Heiner; Makalowski, Wojciech; Nir, Amiram; Gerety, Sebastian S; Hurles, Matthew; Comes, Johanna; Fournier, Anne; Osinska, Hanna; Robins, Jeffrey; Pucéat, Michel; Elpeleg, Orly; Hitz, Marc-Phillip; Andelfinger, Gregor.
Afiliação
  • Wünnemann F; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.
  • Ta-Shma A; Institute of Bioinformatics, University of Münster, Münster, Germany.
  • Preuss C; Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Leclerc S; Monique and Jacques Robo Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • van Vliet PP; The Jackson Laboratory, Bar Harbor, ME, USA.
  • Oneglia A; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.
  • Thibeault M; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.
  • Nordquist E; LIA (International Associated Laboratory) Centre Hospitalier Universitaire Sainte-Justine, Montreal, Quebec, Canada.
  • Lincoln J; LIA (International Associated Laboratory) INSERM, Marseille, France.
  • Scharfenberg F; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.
  • Becker-Pauly C; Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada.
  • Hofmann P; Molecular, Cellular and Developmental Biology Graduate Program, The Ohio State University, Columbus, OH, USA.
  • Hoff K; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Audain E; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.
  • Kramer HH; Division of Pediatric Cardiology, Herma Heart Institute, Children's Hospital of Wisconsin, Milwaukee, WI, USA.
  • Makalowski W; Unit for Degradomics of the Protease Web, Institute of Biochemistry, University of Kiel, Kiel, Germany.
  • Nir A; Unit for Degradomics of the Protease Web, Institute of Biochemistry, University of Kiel, Kiel, Germany.
  • Gerety SS; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Kiel, Germany.
  • Hurles M; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Kiel, Germany.
  • Comes J; German Centre for Cardiovascular Research (DZHK), Kiel, Germany.
  • Fournier A; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Kiel, Germany.
  • Osinska H; German Centre for Cardiovascular Research (DZHK), Kiel, Germany.
  • Robins J; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein, Kiel, Germany.
  • Pucéat M; German Centre for Cardiovascular Research (DZHK), Kiel, Germany.
  • Elpeleg O; Department of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Hitz MP; Wellcome Sanger Institute, Cambridge, UK.
  • Andelfinger G; Wellcome Sanger Institute, Cambridge, UK.
Nat Genet ; 52(1): 40-47, 2020 01.
Article em En | MEDLINE | ID: mdl-31844321
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulação da Expressão Gênica no Desenvolvimento / Proteínas ADAMTS / Doenças das Valvas Cardíacas Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulação da Expressão Gênica no Desenvolvimento / Proteínas ADAMTS / Doenças das Valvas Cardíacas Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Nat Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Canadá País de publicação: Estados Unidos