Associated Papers
A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.
Essawi O et al.
Scientific Reports, 2026
41495099 (PubMed )
Supplement: 41598_2025_29937_MOESM1_ESM.pdf
SEC24D depletion induces osteogenic differentiation deficiency by inactivating the ATF6/TGF-β/Runx2 regulatory loop.
Zhang J et al.
Communications Biology, 2025
Phenotypic Expansion: Fetus With Cole-Carpenter Type 2 Presenting With Novel Neonatal Lethal Skeletal Dysplasia.
Burrill N et al.
American Journal of Medical Genetics. Part A, 2025
Case report: Clinical manifestations and genotype analysis of a child with PTPN11 and SEC24D mutations.
Miao Y et al.
Frontiers in Pediatrics, 2022
Genotypic and Phenotypic Characteristics of 29 Patients With Rare Types of Osteogenesis Imperfecta: Average 5 Years of Follow-Up.
Xi L et al.
Frontiers in Genetics, 2021
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
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.
Takeyari S et al.
American Journal of Medical Genetics. Part A, 2018
Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.
Zhang H et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017
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