Associated Papers
PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.
Kang M et al.
Journal of Veterinary Science, 2025
Osteogenesis imperfecta type 10 and the cellular scaffolds underlying common immunological diseases.
Herbert A
Genes and Immunity, 2024
An Update on Animal Models of Osteogenesis Imperfecta.
Lv F et al.
Calcified Tissue International, 2022
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
Syx D et al.
Plos Genetics, 2021
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
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
Animal models of osteogenesis imperfecta: applications in clinical research.
Enderli TA et al.
Orthopedic Research and Reviews, 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
Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.
Rohrbach M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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
A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta.
Drögemüller C et al.
Plos Genetics, 2009