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
Craniofacial Diseases Caused by Defects in Intracellular Trafficking.
Lu CL et al.
Genes, 2021
Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D.
Takeyari S et al.
American Journal of Medical Genetics. Part A, 2018
P4HB recurrent missense mutation causing Cole-Carpenter syndrome.
Balasubramanian M et al.
Journal of Medical Genetics, 2018
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
Garbes L et al.
American Journal of Human Genetics, 2015
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