Associated Papers
A Novel Biallelic Variant in The SERPINH1 Gene in Two Siblings Diagnosed with Osteogenesis Imperfecta Type X: Evidence of Intrafamilial Clinical Variability.
Akalın A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM4_ESM.xlsx › Sheet1
HSP47 in human diseases: Navigating pathophysiology, diagnosis and therapy.
Khan ES et al.
Clinical and Translational Medicine, 2024
Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches.
Sun Y et al.
Acs Pharmacology & Translational Science, 2024
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
Syx D et al.
Plos Genetics, 2021
Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta.
Schwarze U et al.
American Journal of Medical Genetics. Part A, 2019
Roles of the endoplasmic reticulum-resident, collagen-specific molecular chaperone Hsp47 in vertebrate cells and human disease.
Ito S et al.
The Journal of Biological Chemistry, 2019
Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.
Song Y 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, 2018
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