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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

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Title: Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Authors: 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.; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands., Salazar CM; Department of Pharmacological Sciences and Graduate Program in Molecular and Cellular Pharmacology, Stony Brook University, Stony Brook, New York, USA., De Laughter DM; Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Tjong F; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Piherová L; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Bowling FZ; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York, USA., Zimmerman D; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Lodder EM; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Ta-Shma A; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Perles Z; Department of Pediatric Cardiology, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., Beekman L; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Ilgun A; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands., Gunst Q; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands., Hababa M; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Škorić-Milosavljević D; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Stránecký 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., Tomek V; Children's Heart Centre, 2nd Faculty of Medicine, Charles University in Prague, Motol University Hospital, Prague, Czech Republic., de Knijff P; Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands., de Leeuw R; Department of Human Genetics, Leiden University Medical Centre, Leiden, Netherlands., Robinson JY; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Burn SC; Department of Obstetrics, Gynecology and Women's Health., Mustafa H; Department of Obstetrics, Gynecology and Women's Health., Ambrose M; Department of Pediatrics, Division of Pediatric Cardiology, and., Moss T; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Jacober J; Department of Pediatrics, Ochsner Clinic, Tulane University, University of Queensland, New Orleans, Louisiana, USA., Niyazov DM; Department of Pediatrics, Ochsner Clinic, Tulane University, University of Queensland, New Orleans, Louisiana, USA., Wolf B; Division of Genetics, Birth Defects and Metabolic Disorders, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Kim KH; Division of Genetics, Birth Defects and Metabolic Disorders, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Cherny S; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.; Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Rousounides A; Makarios Medical Centre, Nicosia, Cyprus., Aristidou-Kallika A; Ultrasound and Fetal Medicine Diagnostic Centre, Nicosia, Cyprus., Tanteles G; Cyprus School of Molecular Medicine, Nicosia, Cyprus.; Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Ange-Line B; UMR 1231 INSERM, GAD, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Estaing (CHU), Dijon Bourgogne, Dijon, France., Denommé-Pichon AS; UMR 1231 INSERM, GAD, Université Bourgogne Franche-Comté, Dijon, France.; Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Estaing (CHU), Dijon Bourgogne, Dijon, France., Francannet C; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France., Ortiz D; Medical Genetics Department, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Haak MC; Department of Obstetrics and., Ten Harkel AD; Department of Pediatric Cardiology, Leiden University Medical Centre, Leiden, Netherlands., Manten GT; Department of Obstetrics and., Dutman AC; Department of Pathology, Isala Women and Children's Hospital, Zwolle, Netherlands., Bouman K; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, Netherlands., Magliozzi M; Genetic and Rare Disease Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Radio FC; Genetic and Rare Disease Research Division, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Santen GW; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands., Herkert JC; University Medical Center Groningen, Department of Genetics, University of Groningen, Groningen, Netherlands., Brown HA; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel., van den Hoff MJ; Department of Medical Biology, Amsterdam UMC, Amsterdam, Netherlands., Mulder B; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences., Airola MV; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, New York, USA., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, 1st Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Barnett JV; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Clur SA; Department of Pediatric Cardiology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Frohman MA; Department of Pharmacological Sciences and Graduate Program in Molecular and Cellular Pharmacology, Stony Brook University, Stony Brook, New York, USA., Bezzina CR; Amsterdam UMC, University of Amsterdam, Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences.
Source: The Journal of clinical investigation [J Clin Invest] 2021 Mar 01; Vol. 131 (5).
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
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      – PersonEntity:
          Name:
            NameFull: Barnett JV
      – PersonEntity:
          Name:
            NameFull: Clur SA
      – PersonEntity:
          Name:
            NameFull: Frohman MA
      – PersonEntity:
          Name:
            NameFull: Bezzina CR
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 03
              Text: 2021 Mar 01
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 1558-8238
          Numbering:
            – Type: volume
              Value: 131
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: The Journal of clinical investigation
              Type: main
ResultId 1