Associated Papers
Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.
Lim PJ et al.
Frontiers in Endocrinology, 2023
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Strong A et al.
American Journal of Medical Genetics. Part A, 2022
Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta.
Lim PJ et al.
Frontiers in Genetics, 2021
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
Besio R et al.
The Febs Journal, 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
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Lindert U et al.
Nature Communications, 2016
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