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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.

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Title: Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Authors: Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Zhang B; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Washington ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 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.; Texas Children's Hospital, Houston, Texas, United States of America., Rossi VC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Berrier AS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Lindsey A; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Lesinski J; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Nonet ML; Department of Neuroscience, Washington University School of Medicine, St Louis, Missouri, United States of America., Chen J; Department of Genetics, 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 Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Hicks MJ; Texas Children's Hospital, Houston, Texas, United States of America.; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, United States of America., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, 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 Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Muzny DM; Department of Molecular and Human Genetics, 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; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Pottinger C; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Eyre D; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America., Krakow D; Human Genetics, Obstetrics & Gynecology, Orthopedic Surgery, University of California, Los Angeles, California, United States of America., Schedl T; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America., Pak SC; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.
Corporate Authors: Undiagnosed Diseases Network
Source: PLoS genetics [PLoS Genet] 2023 Nov 07; Vol. 19 (11), pp. e1011005. Date of Electronic Publication: 2023 Nov 07 (Print Publication: 2023).
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE
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  Data: Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
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  Data: <searchLink fieldCode="AU" term="%22Marom+R%22">Marom R</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Zhang+B%22">Zhang B</searchLink>; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.<br /><searchLink fieldCode="AU" term="%22Washington+ME%22">Washington ME</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Song+IW%22">Song IW</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Rossi+VC%22">Rossi VC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Berrier+AS%22">Berrier AS</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Lindsey+A%22">Lindsey A</searchLink>; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.<br /><searchLink fieldCode="AU" term="%22Lesinski+J%22">Lesinski J</searchLink>; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.<br /><searchLink fieldCode="AU" term="%22Nonet+ML%22">Nonet ML</searchLink>; Department of Neuroscience, Washington University School of Medicine, St Louis, Missouri, United States of America.<br /><searchLink fieldCode="AU" term="%22Chen+J%22">Chen J</searchLink>; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America.<br /><searchLink fieldCode="AU" term="%22Baldridge+D%22">Baldridge D</searchLink>; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.<br /><searchLink fieldCode="AU" term="%22Silverman+GA%22">Silverman GA</searchLink>; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.<br /><searchLink fieldCode="AU" term="%22Sutton+VR%22">Sutton VR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Tran+AA%22">Tran AA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Hicks+MJ%22">Hicks MJ</searchLink>; Texas Children's Hospital, Houston, Texas, United States of America.; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Murdock+DR%22">Murdock DR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Dai+H%22">Dai H</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Weis+M%22">Weis M</searchLink>; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America.<br /><searchLink fieldCode="AU" term="%22Jhangiani+SN%22">Jhangiani SN</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Muzny+DM%22">Muzny DM</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Gibbs+RA%22">Gibbs RA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.<br /><searchLink fieldCode="AU" term="%22Caswell+R%22">Caswell R</searchLink>; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pottinger+C%22">Pottinger C</searchLink>; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK.<br /><searchLink fieldCode="AU" term="%22Cilliers+D%22">Cilliers D</searchLink>; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Stals+K%22">Stals K</searchLink>; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Eyre+D%22">Eyre D</searchLink>; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America.<br /><searchLink fieldCode="AU" term="%22Krakow+D%22">Krakow D</searchLink>; Human Genetics, Obstetrics & Gynecology, Orthopedic Surgery, University of California, Los Angeles, California, United States of America.<br /><searchLink fieldCode="AU" term="%22Schedl+T%22">Schedl T</searchLink>; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America.<br /><searchLink fieldCode="AU" term="%22Pak+SC%22">Pak SC</searchLink>; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America.<br /><searchLink fieldCode="AU" term="%22Lee+BH%22">Lee BH</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.
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