Associated Papers
Update on the pathogenesis and genetics of Paget's disease of bone.
Gennari L et al.
Frontiers in Cell and Developmental Biology, 2022
ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone.
Divisato G et al.
Clinical Genetics, 2018
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
Pathobiology of Paget's Disease of Bone.
Galson DL et al.
Journal of Bone Metabolism, 2014
Paget's disease of bone: evidence for complex pathogenetic interactions.
Chung PY et al.
Seminars in Arthritis and Rheumatism, 2012
Familial Paget disease and SQSTM1 mutations in New Zealand.
Cundy T et al.
Calcified Tissue International, 2011
Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population.
Michou L et al.
Bone, 2011
New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.
Crockett JC et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2011
Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.
Chung PY et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010
Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone.
Visconti MR et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010
Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.
Rea SL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009
Somatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone.
Merchant A et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009
Absence of somatic SQSTM1 mutations in Paget's disease of bone.
Matthews BG et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone.
Falchetti A et al.
Calcified Tissue International, 2009
Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.
Chung PY et al.
Calcified Tissue International, 2008
Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.
Collet C et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007
Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.
Morissette J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006
Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.
Beyens G et al.
Calcified Tissue International, 2004
Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.
Johnson-Pais TL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.
Hocking LJ et al.
Human Molecular Genetics, 2002
Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.
Laurin N et al.
American Journal of Human Genetics, 2002