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The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.

Autor: Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Busse EC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, Texas, USA., Washington ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Berrier AS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Rossi VC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Ortinau L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jeong Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jiang MM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Dawson BC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Adeyeye M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Medical Scientist Training Program, UT Health Houston MD Anderson Cancer Center, Houston, Texas, USA., Leynes C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lietman CD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Stroup BM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Batkovskyte D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Chen Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Cela R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Castellon A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lorenzo I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Meyers DN; Department of Orthopaedic Surgery, McGovern Medical School at UT Health, Houston, Texas, USA., Huang S; Department of Molecular and Cellular Biology, and Huffington Department of Education, Innovation, and Technology, Advanced Technology Cores, and., Turner A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Shenava V; Department of Orthopedic Surgery, Baylor College of Medicine, Houston, Texas, USA., Wallace M; Orthopaedic Surgery, University of Nebraska Medical Center, Children's Hospital and Medical Center, Omaha, Nebraska, USA., Orwoll E; Department of Medicine, Bone and Mineral Unit, Oregon Health and Science University, Portland, Oregon, USA., Park D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Ambrose CG; Department of Orthopaedic Surgery, McGovern Medical School at UT Health, Houston, Texas, USA., Nagamani SC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2024 Jun 17; Vol. 134 (15). Date of Electronic Publication: 2024 Jun 17.