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
Osteogenesis imperfecta type 10 and the cellular scaffolds underlying common immunological diseases.
Herbert A
Genes and Immunity, 2024
Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort.
Holtz AP et al.
Bone, 2023
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
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
Besio R et al.
The Febs Journal, 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
Heat shock protein 47 and 65-kDa FK506-binding protein weakly but synergistically interact during collagen folding in the endoplasmic reticulum.
Ishikawa Y et al.
The Journal of Biological Chemistry, 2017
A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen.
Duran I et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.
Marshall C et al.
Gene, 2016
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.
Duran I et al.
Human Molecular Genetics, 2015