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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit, Florence; Longoni, Mauro; Wells, Julie; Maser, Richard S; Bogenschutz, Eric L; Dysart, Matthew J; Contreras, Hannah T M; Frénois, Frederic; Pober, Barbara R; Clark, Robin D; Giampietro, Philip F; Ropers, Hilger H; Hu, Hao; Loscertales, Maria; Wagner, Richard; Ai, Xingbin; Brand, Harrison; Jourdain, Anne-Sophie; Delrue, Marie-Ange; Gilbert-Dussardier, Brigitte; Devisme, Louise; Keren, Boris; McCulley, David J; Qiao, Lu; Hernan, Rebecca; Wynn, Julia; Scott, Tiana M; Calame, Daniel G; Coban-Akdemir, Zeynep; Hernandez, Patricia; Hernandez-Garcia, Andres; Yonath, Hagith; Lupski, James R; Shen, Yufeng; Chung, Wendy K; Scott, Daryl A; Bult, Carol J; Donahoe, Patricia K; High, Frances A.
Afiliação
  • Petit F; Clinique de Génétique, CHU de Lille, Lille, France; EA7364 RADEME, Université de Lille, Lille, France.
  • Longoni M; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.
  • Wells J; The Jackson Laboratory, Bar Harbor, ME, USA.
  • Maser RS; The Jackson Laboratory, Bar Harbor, ME, USA.
  • Bogenschutz EL; The Jackson Laboratory, Bar Harbor, ME, USA.
  • Dysart MJ; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA.
  • Contreras HTM; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA.
  • Frénois F; EA7364 RADEME, Université de Lille, Lille, France.
  • Pober BR; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
  • Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.
  • Giampietro PF; University of Illinois-Chicago, Chicago, IL, USA.
  • Ropers HH; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Hu H; Max Planck Institute for Molecular Genetics, Berlin, Germany.
  • Loscertales M; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.
  • Wagner R; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA; Department of Pediatric Surgery, University Hospital Leipzig, Leipzig, Germany.
  • Ai X; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.
  • Brand H; Department of Neurology, Harvard Medical School, Boston, MA, USA.
  • Jourdain AS; EA7364 RADEME, Université de Lille, Lille, France.
  • Delrue MA; Service de Génétique, CHU de Bordeaux, Bordeaux, France.
  • Gilbert-Dussardier B; Service de Génétique, CHU de Poitiers, Université de Poitiers, EA3808, Poitiers, France.
  • Devisme L; Institut de Pathologie, CHU de Lille, Lille, France.
  • Keren B; Département de Génétique, Hôpital Pitié Salpétrière, CHU de Paris, Paris, France.
  • McCulley DJ; Department of Pediatrics, University of California, San Diego, San Diego, CA, USA.
  • Qiao L; Department of Pediatrics, Columbia University, New York, NY, USA.
  • Hernan R; Department of Pediatrics, Columbia University, New York, NY, USA.
  • Wynn J; Department of Pediatrics, Columbia University, New York, NY, USA.
  • Scott TM; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, UT, USA.
  • Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, the University of Texas Health Science Center at Houston, Houston, TX, USA.
  • Hernandez P; IDDRC/TCC, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Hernandez-Garcia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
  • Yonath H; Internal Medicine A and Genetics Institute, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • Shen Y; Department of Systems Biology, Columbia University, New York, NY, USA.
  • Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
  • Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.
  • Bult CJ; The Jackson Laboratory, Bar Harbor, ME, USA.
  • Donahoe PK; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.
  • High FA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Boston Children's Hospital, Boston, MA, USA. El
Am J Hum Genet ; 110(10): 1787-1803, 2023 10 05.
Article em En | MEDLINE | ID: mdl-37751738
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteoporose / Hérnias Diafragmáticas Congênitas Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteoporose / Hérnias Diafragmáticas Congênitas Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: França