Mutation in the CCAL1 locus accounts for bidirectional process of human subchondral bone turnover and cartilage mineralization Rheumatology (Oxford) | 2022 Apr 12:keac232 | doi: 10.1093/rheumatology/keac232 Rodríguez Ruiz A, van Hoolwerff M, Sprangers S, Suchiman HED, Schoenmaker T, Dibbets-Schneider P, Bloem JL, Nelissen RGHH, Freund C, Mummery C, Everts V, de Vries TJ, Ramos [...]

The role of TNFRSF11B in development of osteoarthritic cartilage. Rheumatology (Oxford) |  2022 Feb 2;61(2):856-864. | doi: 10.1093/rheumatology/keab440 Rodríguez Ruiz A, Tuerlings M, Das A, Coutinho de Almeida R, Suchiman HED, Nelissen RGHH, Ramos YFM, Meulenbelt I. Abstract Objectives: OA is a complex genetic disease with different risk factors contributing to its development. One of [...]

High-impact FN1 mutation decreases chondrogenic potential and affects cartilage deposition via decreased binding to collagen type II I| November 5 - 2021 | Science Advances Marcella van Hoolwerff, Alejandro Rodríguez Ruiz, Marga Bouma,  H. Eka D. Suchiman, Roman I. Koning, Carolina R. Jost, Aat A. Mulder, Christian Freund, Farshid Guilak, Yolande F. M. Ramos and Ingrid [...]

Long non-coding RNA expression profiling of subchondral bone reveals AC005165.1 modifying FRZB expression during osteoarthritis | November 3 2021 | Rheumatology - https://doi.org/10.1093/rheumatology/keab826 Margo Tuerlings, Marcella van Hoolwerff, Jessica M van Bokkum, H Eka D Suchiman, Nico Lakenberg, Demiën Broekhuis, Rob G H H Nelissen, Yolande F M Ramos, Hailiang Mei, Davy Cats, Rodrigo Coutinho de Almeida, Ingrid Meulenbelt Abstract Objective To gain insight in the expression profile [...]

Marcella's latest publication in Science Advances is out now! Science Advances published the work of Marcella van Hoolwerff et al, where a high impact mutation was identified by exome sequencing in FN1 in affected family members of an early-onset osteoarthritis family. Upon introducing this mutation in an in vitro OA disease model using human [...]