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
The administration of exogenous HSP47 as a collagen-specific therapeutic approach.
Besio R et al.
Jci Insight, 2025
Global proteomics and affinity mass spectrometry analysis of human Schwann cells indicates that variation in and loss of neurofibromin (NF1) alters protein expression and cellular and mitochondrial metabolism.
Fay CX et al.
Scientific Reports, 2025
39890807 (PubMed )
Supplement: 41598_2024_84493_MOESM18_ESM.xlsx › Disease_and_Function
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
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.
Nampoothiri S et al.
American Journal of Medical Genetics. Part A, 2014
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