Yumi Okubo Ritsuko Masuyama Akira Iwanaga Yuta Koike Yutaka Kuwatsuka Tomoo Ogi Yosuke Yamamoto Yuichiro Endo Hiroshi Tamura Atsushi Utani
10.1371/journal.pone.0177375
PLoS One
2017 May 11;12(5):e0177375.
CC BY
https://pubmed.ncbi.nlm.nih.gov/28494010/
Calcinosis / genetics Carbon-Carbon Ligases / genetics Dermis / pathology Fibroblasts / pathology Osteogenesis / genetics Up-Regulation / genetics
Calcinosis / genetics Carbon-Carbon Ligases / genetics Dermis / pathology Fibroblasts / pathology Osteogenesis / genetics Up-Regulation / genetics Case Reports Alkaline Phosphatase / metabolism Biomarkers / metabolism Bone Morphogenetic Proteins / metabolism Calcinosis / pathology Calcium-Binding Proteins / metabolism Cell Transdifferentiation Extracellular Matrix Proteins / metabolism Gene Deletion Homozygote Humans Intracellular Space / metabolism Male Middle Aged Protein Transport Pseudoxanthoma Elasticum / enzymology Pseudoxanthoma Elasticum / pathology Signal Transduction Syndrome Biomarkers Bone Morphogenetic Proteins Calcium-Binding Proteins Extracellular Matrix Proteins matrix Gla protein Alkaline Phosphatase Carbon-Carbon Ligases glutamyl carboxylase
PMC5426700
28494010
Calcification in dermal fibroblasts from a patient with GGCX syndrome accompanied by upregulation of osteogenic molecules
2017