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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Guimier, Anne; Gabriel, George C; Bajolle, Fanny; Tsang, Michael; Liu, Hui; Noll, Aaron; Schwartz, Molly; El Malti, Rajae; Smith, Laurie D; Klena, Nikolai T; Jimenez, Gina; Miller, Neil A; Oufadem, Myriam; Moreau de Bellaing, Anne; Yagi, Hisato; Saunders, Carol J; Baker, Candice N; Di Filippo, Sylvie; Peterson, Kevin A; Thiffault, Isabelle; Bole-Feysot, Christine; Cooley, Linda D; Farrow, Emily G; Masson, Cécile; Schoen, Patric; Deleuze, Jean-François; Nitschké, Patrick; Lyonnet, Stanislas; de Pontual, Loic; Murray, Stephen A; Bonnet, Damien; Kingsmore, Stephen F; Amiel, Jeanne; Bouvagnet, Patrice; Lo, Cecilia W; Gordon, Christopher T.
Afiliação
  • Guimier A; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM U1163, Institut Imagine, Paris, France.
  • Gabriel GC; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Bajolle F; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
  • Tsang M; Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Liu H; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
  • Noll A; Laboratoire Cardiogénétique, Hospices Civils de Lyon, Bron, France.
  • Schwartz M; EA 4173, Université Lyon 1 and Hôpital Nord Ouest, Lyon, France.
  • El Malti R; Center for Pediatric Genomic Medicine, Departments of Pediatrics and Pathology, Children's Mercy-Kansas City, Kansas City, Missouri, USA.
  • Smith LD; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
  • Klena NT; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
  • Jimenez G; Laboratoire Cardiogénétique, Hospices Civils de Lyon, Bron, France.
  • Miller NA; EA 4173, Université Lyon 1 and Hôpital Nord Ouest, Lyon, France.
  • Oufadem M; Center for Pediatric Genomic Medicine, Departments of Pediatrics and Pathology, Children's Mercy-Kansas City, Kansas City, Missouri, USA.
  • Moreau de Bellaing A; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
  • Yagi H; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
  • Saunders CJ; Laboratoire Cardiogénétique, Hospices Civils de Lyon, Bron, France.
  • Baker CN; EA 4173, Université Lyon 1 and Hôpital Nord Ouest, Lyon, France.
  • Di Filippo S; Center for Pediatric Genomic Medicine, Departments of Pediatrics and Pathology, Children's Mercy-Kansas City, Kansas City, Missouri, USA.
  • Peterson KA; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
  • Thiffault I; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM U1163, Institut Imagine, Paris, France.
  • Bole-Feysot C; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Cooley LD; Laboratoire Cardiogénétique, Hospices Civils de Lyon, Bron, France.
  • Farrow EG; EA 4173, Université Lyon 1 and Hôpital Nord Ouest, Lyon, France.
  • Masson C; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
  • Schoen P; Center for Pediatric Genomic Medicine, Departments of Pediatrics and Pathology, Children's Mercy-Kansas City, Kansas City, Missouri, USA.
  • Deleuze JF; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
  • Nitschké P; The Jackson Laboratory, Bar Harbor, Maine, USA.
  • Lyonnet S; Service de Cardiologie Pédiatrique, Hospices Civils de Lyon, Lyon, France.
  • de Pontual L; The Jackson Laboratory, Bar Harbor, Maine, USA.
  • Murray SA; Center for Pediatric Genomic Medicine, Departments of Pediatrics and Pathology, Children's Mercy-Kansas City, Kansas City, Missouri, USA.
  • Bonnet D; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
  • Kingsmore SF; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM U1163, Institut Imagine, Paris, France.
  • Amiel J; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Bouvagnet P; Center for Pediatric Genomic Medicine, Departments of Pediatrics and Pathology, Children's Mercy-Kansas City, Kansas City, Missouri, USA.
  • Lo CW; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
  • Gordon CT; Center for Pediatric Genomic Medicine, Departments of Pediatrics and Pathology, Children's Mercy-Kansas City, Kansas City, Missouri, USA.
Nat Genet ; 47(11): 1260-3, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26437028
ABSTRACT
Heterotaxy results from a failure to establish normal left-right asymmetry early in embryonic development. By whole-exome sequencing, whole-genome sequencing and high-throughput cohort resequencing, we identified recessive mutations in MMP21 (encoding matrix metallopeptidase 21) in nine index cases with heterotaxy. In addition, Mmp21-mutant mice and mmp21-morphant zebrafish displayed heterotaxy and abnormal cardiac looping, respectively, suggesting a new role for extracellular matrix remodeling in the establishment of laterality in vertebrates.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Vertebrados / Mutação Puntual / Padronização Corporal / Metaloproteinases da Matriz Secretadas / Síndrome de Heterotaxia Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Vertebrados / Mutação Puntual / Padronização Corporal / Metaloproteinases da Matriz Secretadas / Síndrome de Heterotaxia Idioma: En Ano de publicação: 2015 Tipo de documento: Article