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ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.
Izumi, Kosuke; Brett, Maggie; Nishi, Eriko; Drunat, Séverine; Tan, Ee-Shien; Fujiki, Katsunori; Lebon, Sophie; Cham, Breana; Masuda, Koji; Arakawa, Michiko; Jacquinet, Adeline; Yamazumi, Yusuke; Chen, Shu-Ting; Verloes, Alain; Okada, Yuki; Katou, Yuki; Nakamura, Tomohiko; Akiyama, Tetsu; Gressens, Pierre; Foo, Roger; Passemard, Sandrine; Tan, Ene-Choo; El Ghouzzi, Vincent; Shirahige, Katsuhiko.
Afiliación
  • Izumi K; Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan; Division of Medical Genetics, Nagano Children's Hospital, Azumino 399-8205, Japan; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphi
  • Brett M; KK Research Centre, KK Women's and Children's Hospital, Singapore 229899, Singapore.
  • Nishi E; Division of Medical Genetics, Nagano Children's Hospital, Azumino 399-8205, Japan; Department of Medical Genetics, Shinshu University Graduate School of Medicine, Matsumoto 390-0802, Japan; Life Science Research Center, Nagano Children's Hospital, Azumino 399-8205, Japan.
  • Drunat S; INSERM UMR1141, Hôpital Robert Debré, Paris 75019, France; Département de Génétique, Hôpital Robert Debré, Paris 75019, France.
  • Tan ES; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore 229899, Singapore.
  • Fujiki K; Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan.
  • Lebon S; INSERM UMR1141, Hôpital Robert Debré, Paris 75019, France.
  • Cham B; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore 229899, Singapore.
  • Masuda K; Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan.
  • Arakawa M; Division of Medical Genetics, Nagano Children's Hospital, Azumino 399-8205, Japan.
  • Jacquinet A; Département de Génétique, Centre Hospitalier Universitaire et Université de Liège, Liège 4000, Belgium.
  • Yamazumi Y; Laboratory of Molecular and Genetic Information, Institute of Molecular and Cellular Biosciences, University of Tokyo, Tokyo 113-0032, Japan.
  • Chen ST; Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan.
  • Verloes A; INSERM UMR1141, Hôpital Robert Debré, Paris 75019, France; Département de Génétique, Hôpital Robert Debré, Paris 75019, France; Université Paris Diderot (Paris 7), Hôpital Robert Debré, Paris 75019, France.
  • Okada Y; Laboratory of Pathology and Development, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan.
  • Katou Y; Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan.
  • Nakamura T; Life Science Research Center, Nagano Children's Hospital, Azumino 399-8205, Japan.
  • Akiyama T; Laboratory of Molecular and Genetic Information, Institute of Molecular and Cellular Biosciences, University of Tokyo, Tokyo 113-0032, Japan.
  • Gressens P; INSERM UMR1141, Hôpital Robert Debré, Paris 75019, France; Université Paris Diderot (Paris 7), Hôpital Robert Debré, Paris 75019, France; The Centre for the Developing Brain, King's College London, St. Thomas' Hospital, London SE1-7EH, UK.
  • Foo R; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore 229899, Singapore; Genome Institute of Singapore, Singapore 138672, Singapore.
  • Passemard S; INSERM UMR1141, Hôpital Robert Debré, Paris 75019, France; Département de Génétique, Hôpital Robert Debré, Paris 75019, France; Université Paris Diderot (Paris 7), Hôpital Robert Debré, Paris 75019, France.
  • Tan EC; KK Research Centre, KK Women's and Children's Hospital, Singapore 229899, Singapore; Paediatrics ACP, SingHealth Duke-NUS Medical School, Singapore 169857, Singapore.
  • El Ghouzzi V; INSERM UMR1141, Hôpital Robert Debré, Paris 75019, France; Université Paris Diderot (Paris 7), Hôpital Robert Debré, Paris 75019, France.
  • Shirahige K; Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan; CREST, Japan Science and Technology Agency, Kawaguchi, 332-0012, Japan.
Am J Hum Genet ; 99(2): 451-9, 2016 Aug 04.
Article en En | MEDLINE | ID: mdl-27476655
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Craneofaciales / Proteína Coat de Complejo I / Proteína Coatómero / Mutación Límite: Adult / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías Craneofaciales / Proteína Coat de Complejo I / Proteína Coatómero / Mutación Límite: Adult / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article