Insertion Mutation in Tnfrsf11a Causes a Paget's Disease–Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice

Rare Inherited forms of Paget’s Disease and Related Syndromes

(2019) Stuart H. Ralston et al.   CALCIFIED TISSUE INTERNATIONAL

Proteostasis collapse is a driver of cell aging and death

(2019) Mantu Santra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Zoledronic acid prevents pagetic-like lesions and accelerated bone loss in the p62P394Lmouse model of Paget's disease

(2018) Anna Daroszewska et al.   Disease Models & Mechanisms

Optineurin Negatively Regulates Osteoclast Differentiation by Modulating NF-κB and Interferon Signaling: Implications for Paget’s Disease

(2015) Rami Obaid et al.   Cell Reports

Standardized nomenclature, symbols, and units for bone histomorphometry: A 2012 update of the report of the ASBMR Histomorphometry Nomenclature Committee

(2012) David W Dempster et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice

(2011) Anna Daroszewska et al.   HUMAN MOLECULAR GENETICS

Signal peptide mutations in RANK prevent downstream activation of NF-κB

(2011) Julie C Crockett et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Role of NF-κB in the skeleton

(2010) Deborah Veis Novack   CELL RESEARCH

New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis

(2010) J. C. Crockett et al.   OSTEOPOROSIS INTERNATIONAL

Genetics and aetiology of Pagetic disorders of bone

(2008) Miep H. Helfrich et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Clinical and Biochemical Response of TNFRSF11A-Mediated Early-Onset Familial Paget Disease to Bisphosphonate Therapy

(2008) Philip L. Riches et al.   CALCIFIED TISSUE INTERNATIONAL