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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling
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Ronit Marom ,
Contributed equally to this work with: Ronit Marom, Bo Zhang
Roles Conceptualization, Investigation, Methodology, Writing – original draft, Writing – review & editing
Affiliations 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
⨯ -
Bo Zhang ,
Contributed equally to this work with: Ronit Marom, Bo Zhang
Roles Conceptualization, Investigation, Methodology, Writing – original draft, Writing – review & editing
Affiliation Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America
⨯ -
Megan E. Washington,
Roles Investigation, Methodology, Writing – review & editing
Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
⨯ -
I-Wen Song,
Roles Investigation, Methodology, Writing – review & editing
Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
⨯ -
Lindsay C. Burrage,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliations 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
⨯ - Vittoria C. Rossi,
- Ava S. Berrier,
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Anika Lindsey,
Roles Investigation, Methodology, Writing – review & editing
Affiliation Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America
⨯ - Jacob Lesinski,
- Michael L. Nonet,
- Jian Chen,
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Dustin Baldridge,
Roles Project administration, Writing – review & editing
Affiliation Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America
⨯ -
Gary A. Silverman,
Roles Conceptualization, Supervision, Writing – review & editing
Affiliation Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America
⨯ - V. Reid Sutton,
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Jill A. Rosenfeld,
Roles Project administration, Writing – review & editing
Affiliation Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
⨯ - Alyssa A. Tran,
- M. John Hicks,
- David R. Murdock,
- Hongzheng Dai,
- MaryAnn Weis,
- Shalini N. Jhangiani,
- Donna M. Muzny,
- Richard A. Gibbs,
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Richard Caswell,
Roles Data curation, Formal analysis, Writing – review & editing
Affiliation Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom
⨯ - Carrie Pottinger,
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Deirdre Cilliers,
Roles Investigation, Writing – review & editing
Affiliation Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
⨯ - Karen Stals,
- Undiagnosed Diseases Network ,
- David Eyre,
- Deborah Krakow,
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Tim Schedl ,
Roles Conceptualization, Supervision, Writing – original draft, Writing – review & editing
¶‡ These authors are joint senior authors on this work.
Affiliation Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America
⨯ -
Stephen C. Pak ,
Roles Conceptualization, Supervision, Writing – original draft, Writing – review & editing
¶‡ These authors are joint senior authors on this work.
Affiliation Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America
⨯ - [ ... ],
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Brendan H. Lee
Roles Conceptualization, Supervision, Writing – original draft, Writing – review & editing
* E-mail: blee@bcm.edu
¶‡ These authors are joint senior authors on this work.
Affiliations 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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https://orcid.org/0000-0003-3524-661X
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling
- Ronit Marom,
- Bo Zhang,
- Megan E. Washington,
- I-Wen Song,
- Lindsay C. Burrage,
- Vittoria C. Rossi,
- Ava S. Berrier,
- Anika Lindsey,
- Jacob Lesinski,
- Michael L. Nonet
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- Published: November 7, 2023
- https://doi.org/10.1371/journal.pgen.1011005