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References from Rare SERPINH1 and SERPINF1 variants in autosomal recessive osteogenesis imperfecta type X and type VI. Local targets link to admitted publications; unresolved targets remain external evidence.
The effect of SERPINF1 in-frame mutations in osteogenesis imperfecta type VI
10.1016/j.bone.2015.04.008 · 2015 · External reference
Genotype and phenotype correlation of patients with osteogenesis imperfecta
10.1016/j.jmoldx.2024.05.014 · 2024 · External reference
Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population
10.1038/s41598-025-95877-z · 2025 · External reference
Treatment response to long term antiresorptive therapy in osteogenesis imperfecta type VI: does genotype matter?
10.1515/jpem-2020-0260 · 2020 · External reference
Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta
10.1016/j.ajhg.2010.01.034 · 2010 · External reference
HSP47 and FKBP65 cooperate in the synthesis of type I procollagen
10.1093/hmg/ddu608 · 2015 · External reference
Osteogenesis imperfecta
10.1016/s0140-6736(15)00728-x · 2016 · External reference
Unresolved reference
2011 · External reference
Pigment epithelium derived factor suppresses expression of sost/sclerostin by osteocytes: implication for its role in bone matrix mineralization
10.1002/jcp.24859 · 2015 · External reference
Genotypic and phenotypic analysis in Chinese cohort with autosomal recessive osteogenesis imperfecta
10.3389/fgene.2020.00984 · 2020 · External reference
Genotype-phenotype relationship and comparison between eastern and western patients with osteogenesis imperfecta
10.1007/s40618-023-02123-2 · 2024 · External reference
A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly
10.1016/j.gene.2016.09.035 · 2016 · External reference
Molecular and clinical aspects of osteogenesis imperfecta type VI: a case series with novel SERPINF1 gene variants
10.3390/ijms26136200 · 2025 · External reference
Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI
10.1210/jc.2012-1827 · 2012 · External reference
Pigment epithelium-derived factor (PEDF) protects cortical neurons in vitro from oxidant injury by activation of extracellular signal-regulated kinase (ERK) 1/2 and induction of Bcl-2
10.1016/j.neures.2011.09.003 · 2012 · External reference
Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta
10.1002/ajmg.a.61170 · 2019 · External reference
SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta – a study of 18 patients from India
2023 · External reference
Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X
10.1007/s00198-018-4448-2 · 2018 · External reference
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
10.1371/journal.pgen.1009339 · 2021 · External reference
Characterization of three adults and an adolescent with osteogenesis imperfecta type VI and a novel founder SERPINF1 variant
10.1016/j.ejmg.2023.104867 · 2023 · External reference
Nosology of genetic skeletal disorders: 2023 revision
10.1002/ajmg.a.63132 · 2023 · External reference
Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta
2018 · External reference
