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IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey, Zeineb; Cabrera, Oscar A; Hoefele, Julia; Antony, Dinu; Wu, Kaman; Stuck, Michael W; Micha, Dimitra; Eguether, Thibaut; Smith, Abigail O; van der Wel, Nicole N; Wagner, Matias; Strittmatter, Lara; Beales, Philip L; Jonassen, Julie A; Thiffault, Isabelle; Cadieux-Dion, Maxime; Boyes, Laura; Sharif, Saba; Tüysüz, Beyhan; Dunstheimer, Desiree; Niessen, Hans W M; Devine, William; Lo, Cecilia W; Mitchison, Hannah M; Schmidts, Miriam; Pazour, Gregory J.
Afiliación
  • Bakey Z; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany.
  • Cabrera OA; Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands.
  • Hoefele J; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America.
  • Antony D; Institute for Human Genetics, Technical University Munich (TUM), School of Medicine, Munich, Germany.
  • Wu K; Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Freiburg, Germany.
  • Stuck MW; Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands.
  • Micha D; Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands.
  • Eguether T; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America.
  • Smith AO; Department of Human Genetics, Amsterdam Movement Sciences, Amsterdam UMC, Amsterdam, The Netherlands.
  • van der Wel NN; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America.
  • Wagner M; Program in Molecular Medicine, University of Massachusetts Chan Medical School, Biotech II, Worcester, Massachusetts, United States of America.
  • Strittmatter L; Electron microscopy Center Amsterdam, Department of Medical Biology, VUMC, Amsterdam, The Netherlands.
  • Beales PL; Institute for Human Genetics, Technical University Munich (TUM), School of Medicine, Munich, Germany.
  • Jonassen JA; Electron Microscopy Core, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America.
  • Thiffault I; Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Cadieux-Dion M; Department of Microbiology and Physiological Systems, University of Massachusetts Chan Medical School, Worcester, Massachusetts, United States of America.
  • Boyes L; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, United States of America.
  • Sharif S; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, United States of America.
  • Tüysüz B; West Midlands Genomic Medicine Hub, Birmingham Women's Hospital, Birmingham, United Kingdom.
  • Dunstheimer D; West Midlands Genomic Medicine Hub, Birmingham Women's Hospital, Birmingham, United Kingdom.
  • Niessen HWM; Department of Pediatrics, Division of Pediatric Genetics, Cerrahpasa Medical Faculty, University-Cerrahpasa, Istanbul, Turkey.
  • Devine W; Center for Pediatrics and Adolescent Medicine, University Hospital Augsburg, Augsburg, Germany.
  • Lo CW; Department of Pathology, Amsterdam University Medical Center (AUMC), Amsterdam, The Netherlands.
  • Mitchison HM; Department of Developmental Biology, University of Pittsburgh, 8111 Rangos Research Center, Pittsburgh, Pennsylvania, United States of America.
  • Schmidts M; Department of Developmental Biology, University of Pittsburgh, 8111 Rangos Research Center, Pittsburgh, Pennsylvania, United States of America.
  • Pazour GJ; Genetics and Genomic Medicine Programme, University College London, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
PLoS Genet ; 19(6): e1010796, 2023 06.
Article en En | MEDLINE | ID: mdl-37315079
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cilios / Ciliopatías Límite: Animals / Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2023 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Cilios / Ciliopatías Límite: Animals / Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2023 Tipo del documento: Article País de afiliación: Alemania