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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Lahrouchi, Najim; Postma, Alex V; Salazar, Christian M; De Laughter, Daniel M; Tjong, Fleur; Piherová, Lenka; Bowling, Forrest Z; Zimmerman, Dominic; Lodder, Elisabeth M; Ta-Shma, Asaf; Perles, Zeev; Beekman, Leander; Ilgun, Aho; Gunst, Quinn; Hababa, Mariam; Skoric-Milosavljevic, Doris; Stránecký, Viktor; Tomek, Viktor; de Knijff, Peter; de Leeuw, Rick; Robinson, Jamille Y; Burn, Sabrina C; Mustafa, Hiba; Ambrose, Matthew; Moss, Timothy; Jacober, Jennifer; Niyazov, Dmitriy M; Wolf, Barry; Kim, Katherine H; Cherny, Sara; Rousounides, Andreas; Aristidou-Kallika, Aphrodite; Tanteles, George; Ange-Line, Bruel; Denommé-Pichon, Anne-Sophie; Francannet, Christine; Ortiz, Damara; Haak, Monique C; Ten Harkel, Arend D.J.; Manten, Gwendolyn Tr; Dutman, Annemiek C; Bouman, Katelijne; Magliozzi, Monia; Radio, Francesca Clementina; Santen, Gijs We; Herkert, Johanna C; Brown, H Alex; Elpeleg, Orly; van den Hoff, Maurice Jb; Mulder, Barbara.
Afiliação
  • Lahrouchi N; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.
  • Postma AV; Department of Clinical Genetics, and.
  • Salazar CM; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands.
  • De Laughter DM; Department of Pharmacological Sciences and Graduate Program in Molecular and Cellular Pharmacology, Stony Brook University, Stony Brook, New York, USA.
  • Tjong F; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
  • Piherová L; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.
  • Bowling FZ; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Zimmerman D; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York, USA.
  • Lodder EM; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.
  • Ta-Shma A; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.
  • Perles Z; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Beekman L; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Ilgun A; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.
  • Gunst Q; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands.
  • Hababa M; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands.
  • Skoric-Milosavljevic D; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.
  • Stránecký V; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.
  • Tomek V; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • de Knijff P; Children's Heart Centre, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague, Czech Republic.
  • de Leeuw R; Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands.
  • Robinson JY; Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands.
  • Burn SC; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
  • Mustafa H; Department of Obstetrics, Gynecology and Women's Health.
  • Ambrose M; Department of Obstetrics, Gynecology and Women's Health.
  • Moss T; Department of Pediatrics, Division of Pediatric Cardiology, and.
  • Jacober J; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
  • Niyazov DM; Department of Pediatrics, Ochsner Clinic, Tulane University, University of Queensland, New Orleans, Louisiana, USA.
  • Wolf B; Department of Pediatrics, Ochsner Clinic, Tulane University, University of Queensland, New Orleans, Louisiana, USA.
  • Kim KH; Division of Genetics, Birth Defects and Metabolic Disorders, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
  • Cherny S; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
  • Rousounides A; Division of Genetics, Birth Defects and Metabolic Disorders, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
  • Aristidou-Kallika A; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
  • Tanteles G; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.
  • Ange-Line B; Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.
  • Denommé-Pichon AS; Makarios Medical Centre, Nicosia, Cyprus.
  • Francannet C; Ultrasound and Fetal Medicine Diagnostic Centre, Nicosia, Cyprus.
  • Ortiz D; Cyprus School of Molecular Medicine, Nicosia, Cyprus.
  • Haak MC; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Ten Harkel AD; UMR 1231 INSERM, GAD, Université Bourgogne Franche-Comté, Dijon, France.
  • Manten GT; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Estaing (CHU), Dijon Bourgogne, Dijon, France.
  • Dutman AC; UMR 1231 INSERM, GAD, Université Bourgogne Franche-Comté, Dijon, France.
  • Bouman K; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Estaing (CHU), Dijon Bourgogne, Dijon, France.
  • Magliozzi M; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France.
  • Radio FC; Medical Genetics Department, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
  • Santen GW; Department of Obstetrics and.
  • Herkert JC; Department of Pediatric Cardiology, Leiden University Medical Centre, Leiden, Netherlands.
  • Brown HA; Department of Obstetrics and.
  • Elpeleg O; Department of Pathology, Isala Women and Children's Hospital, Zwolle, Netherlands.
  • van den Hoff MJ; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, Netherlands.
  • Mulder B; Genetic and Rare Disease Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
J Clin Invest ; 131(5)2021 03 01.
Article em En | MEDLINE | ID: mdl-33645542
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfolipase D / Alelos / Mutação com Perda de Função / Cardiopatias Congênitas / Doenças das Valvas Cardíacas Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfolipase D / Alelos / Mutação com Perda de Função / Cardiopatias Congênitas / Doenças das Valvas Cardíacas Limite: Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article