Arole for age-related changes in TGFβ signaling in aberrant chondrocyte differentiation and osteoarthritis
van der Kraan P.M., Blaney Davidson E.N., van den Berg W.B. Arole for age-related changes in TGFβ signaling in aberrant chondrocyte differentiation and osteoarthritis. Arthritis Res Ther 2010, 12:201.
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis
van de Laar I.M., Oldenburg R.A., Pals G., Roos-Hesselink J.W., de Graaf B.M., Verhagen J.M., et al. Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis. Nat Genet 2011, 43:121-126.
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome
van de Laar I.M., van der Linde D., Oei E.H., Bos P.K., Bessems J.H., Bierma-Zeinstra S.M., et al. Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. JMed Genet 2012, 49:47-57.
Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis
Valdes A.M., Spector T.D., Tamm A., Kisand K., Doherty S.A., Dennison E.M., et al. Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis. Arthritis Rheum 2010, 62:2347-2352.
An SNP in the 5'UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with invivo differences in allelic expression in articular cartilage
Southam L., Rodriguez-Lopez J., Wilkins J.M., Pombo-Suarez M., Snelling S., Gomez-Reino J.J., et al. An SNP in the 5'UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with invivo differences in allelic expression in articular cartilage. Hum Mol Genet 2007, 16:2226-2232.
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study
arcOGEN Consortium and arcOGEN Collaborators
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet 2012, 380:815-823. arcOGEN Consortium and arcOGEN Collaborators.
Annotation of functional variation in personal genomes using RegulomeDB
Boyle A.P., Hong E.L., Hariharan M., Cheng Y., Schaub M.A., Kasowski M., et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res 2012, 22:1790-1797.