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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Marom, Ronit; Zhang, Bo; Washington, Megan E; Song, I-Wen; Burrage, Lindsay C; Rossi, Vittoria C; Berrier, Ava S; Lindsey, Anika; Lesinski, Jacob; Nonet, Michael L; Chen, Jian; Baldridge, Dustin; Silverman, Gary A; Sutton, V Reid; Rosenfeld, Jill A; Tran, Alyssa A; Hicks, M John; Murdock, David R; Dai, Hongzheng; Weis, MaryAnn; Jhangiani, Shalini N; Muzny, Donna M; Gibbs, Richard A; Caswell, Richard; Pottinger, Carrie; Cilliers, Deirdre; Stals, Karen; Eyre, David; Krakow, Deborah; Schedl, Tim; Pak, Stephen C; Lee, Brendan H.
Afiliación
  • Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Zhang B; Texas Children's Hospital, Houston, Texas, United States of America.
  • Washington ME; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.
  • Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Rossi VC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Berrier AS; Texas Children's Hospital, Houston, Texas, United States of America.
  • Lindsey A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Lesinski J; Texas Children's Hospital, Houston, Texas, United States of America.
  • Nonet ML; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Chen J; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.
  • Baldridge D; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.
  • Silverman GA; Department of Neuroscience, Washington University School of Medicine, St Louis, Missouri, United States of America.
  • Sutton VR; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America.
  • Rosenfeld JA; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.
  • Tran AA; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.
  • Hicks MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Murdock DR; Texas Children's Hospital, Houston, Texas, United States of America.
  • Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Weis M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Jhangiani SN; Texas Children's Hospital, Houston, Texas, United States of America.
  • Muzny DM; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, United States of America.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Caswell R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Pottinger C; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America.
  • Cilliers D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Stals K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.
  • Eyre D; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
  • Krakow D; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK.
  • Schedl T; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
  • Pak SC; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.
PLoS Genet ; 19(11): e1011005, 2023 Nov.
Article en En | MEDLINE | ID: mdl-37934770
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Cinesinas Límite: Animals / Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Cinesinas Límite: Animals / Humans Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos