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
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 2024
Osteogenesis imperfecta type 10 and the cellular scaffolds underlying common immunological diseases.
Herbert A
Genes and Immunity, 2024
HSP47 in human diseases: Navigating pathophysiology, diagnosis and therapy.
Khan ES et al.
Clinical and Translational Medicine, 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
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
Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia.
Kang H et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2017
Biology of Hsp47 (Serpin H1), a collagen-specific molecular chaperone.
Ito S et al.
Seminars in Cell & Developmental Biology, 2017
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly.
Marshall C et al.
Gene, 2016
Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.
Lindert U et al.
The Journal of Biological Chemistry, 2015
Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta.
Eyre DR et al.
Calcified Tissue International, 2013
New genes in bone development: what's new in osteogenesis imperfecta.
Marini JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.
Rohrbach M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
[Mutations of noncollagen genes in osteogenesis imperfecta--implications of the gene products in collagen biosynthesis and pathogenesis of disease].
Galicka A
Postepy Higieny I Medycyny Doswiadczalnej (online), 2012
New perspectives on osteogenesis imperfecta.
Forlino A et al.
Nature Reviews. Endocrinology, 2011
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta.
Christiansen HE et al.
American Journal of Human Genetics, 2010