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Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.
Drutman, Scott B; Haerynck, Filomeen; Zhong, Franklin L; Hum, David; Hernandez, Nicholas J; Belkaya, Serkan; Rapaport, Franck; de Jong, Sarah Jill; Creytens, David; Tavernier, Simon J; Bonte, Katrien; De Schepper, Sofie; van der Werff Ten Bosch, Jutte; Lorenzo-Diaz, Lazaro; Wullaert, Andy; Bossuyt, Xavier; Orth, Gérard; Bonagura, Vincent R; Béziat, Vivien; Abel, Laurent; Jouanguy, Emmanuelle; Reversade, Bruno; Casanova, Jean-Laurent.
Afiliación
  • Drutman SB; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
  • Haerynck F; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, 9000 Ghent, Belgium.
  • Zhong FL; Institute of Molecular and Cell Biology, A*STAR, 138673 Proteos, Singapore.
  • Hum D; Laboratory of Human Embryology and Genetics, Institute of Medical Biology, A*STAR, 138648 Immunos, Singapore.
  • Hernandez NJ; Skin Research Institute of Singapore, 138648 Immunos, Singapore.
  • Belkaya S; Lee Kong Chian School of Medicine, Nanyang Technological University, 636921 Singapore.
  • Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
  • de Jong SJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
  • Creytens D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
  • Tavernier SJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
  • Bonte K; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, 10065.
  • De Schepper S; Department of Pathology, Ghent University Hospital, 9000 Ghent, Belgium.
  • van der Werff Ten Bosch J; Cancer Research Institute Ghent, Ghent University, 9000 Ghent, Belgium.
  • Lorenzo-Diaz L; Primary Immune Deficiency Research Laboratory, Department of Internal Diseases and Pediatrics, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, 9000 Ghent, Belgium.
  • Wullaert A; Center for Inflammation Research, Unit of Molecular Signal Transduction in Inflammation, Flanders Institute for Biotechnology, 9052 Ghent, Belgium.
  • Bossuyt X; Department of Biomedical Molecular Biology, Ghent University, 9000 Ghent, Belgium.
  • Orth G; Department of Otorhinolaryngology, Head and Neck Surgery, Craniofacial Team, Gent University Hospital, 9000 Ghent, Belgium.
  • Bonagura VR; Department of Dermatology, Ghent University Hospital, 9000 Ghent, Belgium.
  • Béziat V; Department of Pediatrics, Universitair Ziekenhuis Brussel, 1090 Jette, Belgium.
  • Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
  • Jouanguy E; Imagine Institute, Paris Descartes University, 75006 Paris, France.
  • Reversade B; Department of Biomedical Molecular Biology, Ghent University, 9000 Ghent, Belgium.
  • Casanova JL; Department of Internal Medicine and Pediatrics, Ghent University, 9000 Ghent, Belgium.
Proc Natl Acad Sci U S A ; 116(38): 19055-19063, 2019 09 17.
Article en En | MEDLINE | ID: mdl-31484767
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Infecciones del Sistema Respiratorio / Infecciones por Papillomavirus / Proteínas Adaptadoras Transductoras de Señales / Proteínas Reguladoras de la Apoptosis / Mutación con Ganancia de Función / Homocigoto Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Infecciones del Sistema Respiratorio / Infecciones por Papillomavirus / Proteínas Adaptadoras Transductoras de Señales / Proteínas Reguladoras de la Apoptosis / Mutación con Ganancia de Función / Homocigoto Límite: Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2019 Tipo del documento: Article Pais de publicación: Estados Unidos