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Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).
Saito-Hakoda A, Kikuchi A, Takahashi T, Yokoyama Y, Himori N, Adachi M, Ikeda R, Nomura Y, Takayama J, Kawashima J, Katsuoka F, Fujishima F, Yamaguchi T, Ito A, Hanita T, Kanno J, Aizawa T, Nakazawa T, Kawase T, Tamiya G, Yamamoto M, Fujiwara I, Kure S. Saito-Hakoda A, et al. J Bone Miner Metab. 2023 Mar;41(2):193-202. doi: 10.1007/s00774-022-01392-w. Epub 2022 Dec 15. J Bone Miner Metab. 2023. PMID: 36520195 Review.
INTRODUCTION: Paget's disease of bone (PDB) is a skeletal disorder characterized by disorganized bone remodeling due to abnormal osteoclasts. ...There are five types of rare PDB and related osteolytic disorders due to TNFRSF11A tandem duplication varia …
INTRODUCTION: Paget's disease of bone (PDB) is a skeletal disorder characterized by disorganized bone remodeling …
Genetics and aetiology of Pagetic disorders of bone.
Helfrich MH, Hocking LJ. Helfrich MH, et al. Arch Biochem Biophys. 2008 May 15;473(2):172-82. doi: 10.1016/j.abb.2008.02.045. Epub 2008 Mar 10. Arch Biochem Biophys. 2008. PMID: 18359282 Review.
Paget's disease of bone (PDB) is a late-onset disorder characterised by focal areas of increased bone turnover containing enlarged hyperactive osteoclasts. ...The syndrome of inclusion body myositis, Paget's disease and frontotemporal dem …
Paget's disease of bone (PDB) is a late-onset disorder characterised by focal areas of increased bone turnover c …
Mechanisms of disease: genetics of Paget's disease of bone and related disorders.
Daroszewska A, Ralston SH. Daroszewska A, et al. Nat Clin Pract Rheumatol. 2006 May;2(5):270-7. doi: 10.1038/ncprheum0172. Nat Clin Pract Rheumatol. 2006. PMID: 16932700 Review.
Paget's disease of bone (PDB) is a common disorder in which focal abnormalities of increased bone turnover lead to complications such as bone pain, deformity, pathological fractures, and deafness. ...Several additional genes for PDB remain to be …
Paget's disease of bone (PDB) is a common disorder in which focal abnormalities of increased bone turnover lead …
Structural and functional deviations in disease-associated p97 mutants.
Tang WK, Xia D. Tang WK, et al. J Struct Biol. 2012 Aug;179(2):83-92. doi: 10.1016/j.jsb.2012.04.024. Epub 2012 May 8. J Struct Biol. 2012. PMID: 22579784 Free PMC article. Review.
Missense mutations that occur at the interface between two functional domains in the AAA protein p97 lead to suboptimal performance in its enzymatic activity and impaired intracellular functions, causing human disorders such as inclusion body myopathy associated with Paget …
Missense mutations that occur at the interface between two functional domains in the AAA protein p97 lead to suboptimal performance in its e …
The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).
Johnson MA, Klickstein JA, Khanna R, Gou Y; Cure VCP Disease Research Consortium; Raman M. Johnson MA, et al. Neurobiol Dis. 2022 Jul;169:105722. doi: 10.1016/j.nbd.2022.105722. Epub 2022 Apr 8. Neurobiol Dis. 2022. PMID: 35405261 Free PMC article. Review.
This conference, planned and organized by the nonprofit patient advocacy group Cure VCP Disease, Inc. (https://www.curevcp.org), was the first VCP focused meeting since the 215th ENMC International Workshop VCP-related multi-system proteinopathy in 2016 (Evangelista et al. …
This conference, planned and organized by the nonprofit patient advocacy group Cure VCP Disease, Inc. (https://www.curevcp.org), was …