Associated Papers
CRTAP-Null Osteoblasts Have Increased Proliferation, Protein Secretion, and Skeletal Morphogenesis Gene Expression with Downregulation of Cellular Adhesion.
Barnes AM et al.
Cells, 2025
Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.
Charpié M et al.
European Journal of Human Genetics : Ejhg, 2024
Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants.
Zhou B et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.
Udupa P et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
34557487 (PubMed )
Supplement: Table_1.XLSX › table_S1
Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta.
Tang YA et al.
Frontiers in Genetics, 2020
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