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

"research sequencing data was deposited to dbgap (phs001232 v5 p2) https://www ncbi nlm nih gov/projects/gap/cgi-bin/study cgi?; research sequencing data was deposited to dbgap (phs001232 v5 p2) https://www ncbi nlm nih gov/projects/gap/cgi-bin/study cgi? statistical significance was determined as p value that is equal to or less than 0 01 s1 movie (avi) click here for additional data file s2 movie (avi) click here for additional data file s3 movie (avi) click here for additional data file s4 movie (avi) click here for additional data file s1 data (xlsx) click here for additional data file s2 data (xlsx) click here for additional data file s3 data (xlsx) click here for additional data file s1 fig type i collagen isolated from patient fibroblasts showed no difference in electrophoretic migration pattern between patient and control. file s4 movie (avi) click here for additional data file s1 data (xlsx"

"The authors have declared that no competing interests exist."

"RM was supported by the Michael Geisman Fellowship of the Osteogenesis imperfecta foundation, the Lawrence Family Bone Disease Program of Texas, the BCM Chao Physician- Scientist award of the Ting Tsung and Wei Fong Chao Foundation, and through the NIH/NIGMS T32GM07526. Research reported in this manuscript was also supported by the NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director under award number U01 HG007709 (BL), U54 NS108251 (TS), U01 HG007703 and U01 HG007942. Research reported in this publication was supported by the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health under award number P50HD103555 for the Baylor College of Medicine Intellectual and Developmental Disabilities Research Center (IDDRC). Funding was also provided by the Children’s Discovery Institute, St Louis Children’s Hospital Foundation (GAS and SCP) and R01 GM100756 (TS). The content of this manuscript is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript."