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Paper Details

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
PLoS Genet
0
2023
C. elegans, Cas9, GFP, KIF5B, KIF5B variants, Kinesin, NIH3T3 cells, RNA, Thr87Ile, Thr90Ile, human, human cells, kinesin, kinesin motor domain, kinesin-1 subunit, kinesin-related disorders, kinesin-related genes, leucine, mRNA, mTOR, neurodevelopmental disorders, nucleotide, osteogenesis imperfecta, p, patient, patient cells, patients, primary human fibroblasts, skeletal dysplasias, unc, unc-116, unc-116 Thr90Ile, unc-116 Thr90Ile neurons, unc-116 Thr90Ile variant, wild type allele
Author NameAffiliation
Vernon R SuttonBaylor College of Medicine
Vernon R SuttonTexas Children's Hospital
Shalini N JhangianiBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
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