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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia, Silvio Alessandro; Connors, Samantha; Matsunami, Norisada; Cannavino, Jessica; Rose, Matthew F; Gilette, Nicole M; Artoni, Pietro; de Macena Sobreira, Nara Lygia; Chan, Wai-Man; Webb, Bryn D; Robson, Caroline D; Cheng, Long; Van Ryzin, Carol; Ramirez-Martinez, Andres; Mohassel, Payam; Leppert, Mark; Scholand, Mary Beth; Grunseich, Christopher; Ferreira, Carlos R; Hartman, Tyler; Hayes, Ian M; Morgan, Tim; Markie, David M; Fagiolini, Michela; Swift, Amy; Chines, Peter S; Speck-Martins, Carlos E; Collins, Francis S; Jabs, Ethylin Wang; Bönnemann, Carsten G; Olson, Eric N; Carey, John C; Robertson, Stephen P; Manoli, Irini; Engle, Elizabeth C.
Afiliação
  • Di Gioia SA; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Connors S; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Matsunami N; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Cannavino J; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand.
  • Rose MF; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
  • Gilette NM; Department of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 USA.
  • Artoni P; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • de Macena Sobreira NL; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Chan WM; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Webb BD; Medical Genetics Training Program, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Robson CD; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Cheng L; Broad Institute of M.I.T. and Harvard, Cambridge, Massachusetts 02142, USA.
  • Van Ryzin C; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Ramirez-Martinez A; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Mohassel P; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Leppert M; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Scholand MB; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Grunseich C; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
  • Ferreira CR; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Hartman T; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Hayes IM; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Morgan T; Howard Hughes Medical Institute, Chevy Chase, Maryland 20815, USA.
  • Markie DM; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York 10029, USA.
  • Fagiolini M; Department of Radiology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Swift A; Department of Radiology, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Chines PS; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Speck-Martins CE; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
  • Collins FS; Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA.
  • Jabs EW; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
  • Bönnemann CG; Department of Molecular Biology and Neuroscience, and Hamon Center for Regenerative Science and Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390 USA.
  • Olson EN; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
  • Carey JC; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
  • Robertson SP; Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA.
  • Manoli I; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
  • Engle EC; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1477, USA.
Nat Commun ; 8: 16077, 2017 07 06.
Article em En | MEDLINE | ID: mdl-28681861
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Músculo Esquelético / Síndrome de Möbius / Proteínas de Peixe-Zebra / Mioblastos / Proteínas de Membrana / Morfogênese / Proteínas Musculares / Doenças Musculares / Mutação Limite: Adult / Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Músculo Esquelético / Síndrome de Möbius / Proteínas de Peixe-Zebra / Mioblastos / Proteínas de Membrana / Morfogênese / Proteínas Musculares / Doenças Musculares / Mutação Limite: Adult / Animals / Child / Female / Humans / Infant / Male Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido