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Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Halim, Danny; Wilson, Michael P; Oliver, Daniel; Brosens, Erwin; Verheij, Joke B G M; Han, Yu; Nanda, Vivek; Lyu, Qing; Doukas, Michael; Stoop, Hans; Brouwer, Rutger W W; van IJcken, Wilfred F J; Slivano, Orazio J; Burns, Alan J; Christie, Christine K; de Mesy Bentley, Karen L; Brooks, Alice S; Tibboel, Dick; Xu, Suowen; Jin, Zheng Gen; Djuwantono, Tono; Yan, Wei; Alves, Maria M; Hofstra, Robert M W; Miano, Joseph M.
Afiliação
  • Halim D; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • Wilson MP; Aab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
  • Oliver D; Department of Physiology and Cell Biology, University of Nevada School of Medicine, Reno, NV 89557.
  • Brosens E; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • Verheij JB; Department of Genetics, University Medical Center, University of Groningen, 9700 RB Groningen, The Netherlands.
  • Han Y; Aab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
  • Nanda V; Aab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
  • Lyu Q; Aab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
  • Doukas M; Department of Pathology, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • Stoop H; Department of Pathology, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • Brouwer RW; Center for Biomics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • van IJcken WF; Center for Biomics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • Slivano OJ; Aab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
  • Burns AJ; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • Christie CK; Stem Cells and Regenerative Medicine, Birth Defects Research Centre, University College London Institute of Child Health, London WC1N 1EH, United Kingdom.
  • de Mesy Bentley KL; Aab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
  • Brooks AS; Department of Pathology and Laboratory Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
  • Tibboel D; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • Xu S; Department of Pediatric Surgery, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • Jin ZG; Aab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
  • Djuwantono T; Aab Cardiovascular Research Institute, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642.
  • Yan W; Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia.
  • Alves MM; Department of Physiology and Cell Biology, University of Nevada School of Medicine, Reno, NV 89557.
  • Hofstra RM; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands.
  • Miano JM; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; j.m.miano@rochester.edu r.hofstra@erasmusmc.nl.
Proc Natl Acad Sci U S A ; 114(13): E2739-E2747, 2017 03 28.
Article em En | MEDLINE | ID: mdl-28292896
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autoantígenos / Anormalidades Múltiplas / Bexiga Urinária / Pseudo-Obstrução Intestinal / Colo / Proteínas do Citoesqueleto / Proteínas Musculares Tipo de estudo: Etiology_studies Limite: Animals / Female / Humans / Newborn Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Autoantígenos / Anormalidades Múltiplas / Bexiga Urinária / Pseudo-Obstrução Intestinal / Colo / Proteínas do Citoesqueleto / Proteínas Musculares Tipo de estudo: Etiology_studies Limite: Animals / Female / Humans / Newborn Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos