Associated Papers
Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis.
Pansa AC et al.
American Journal of Medical Genetics. Part A, 2025
Mutation in the CCAL1 locus accounts for bidirectional process of human subchondral bone turnover and cartilage mineralization.
Rodríguez Ruiz A et al.
Rheumatology (oxford, England), 2022
Biochemical characterization of a disease-causing human osteoprotegerin variant.
Luo Y et al.
Scientific Reports, 2022
Mutations in osteoprotegerin account for the CCAL1 locus in calcium pyrophosphate deposition disease.
Williams CJ et al.
Osteoarthritis and Cartilage, 2018
Genetic Determinism of Primary Early-Onset Osteoarthritis.
Aury-Landas J et al.
Trends in Molecular Medicine, 2016
A gain of function mutation in TNFRSF11B encoding osteoprotegerin causes osteoarthritis with chondrocalcinosis.
Ramos YF et al.
Annals of the Rheumatic Diseases, 2015
Exome and whole genome sequencing in aging and longevity.
van den Akker EB et al.
Advances in Experimental Medicine and Biology, 2015
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