The role of genes in the pathogenesis of Paget's disease of bone

IBMS BoneKEy ◽  
2010 ◽  
Vol 7 (3) ◽  
pp. 124-133
Author(s):  
Pui Yan Jenny Chung ◽  
Wim Van Hul
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone

scholarly journals Genetic Determinants of Paget’s Disease of Bone

2021 ◽  
Author(s):  
Navnit S. Makaram ◽  
Stuart H. Ralston
Keyword(s):  
Genetic Factors ◽  
Association Studies ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Genome Wide Association Studies ◽  
Paget's Disease Of Bone ◽  
Genome Wide ◽  
Family Based

Abstract Purpose of Review To provide an overview of the role of genes and loci that predispose to Paget’s disease of bone and related disorders. Recent Findings Studies over the past ten years have seen major advances in knowledge on the role of genetic factors in Paget’s disease of bone (PDB). Genome wide association studies have identified six loci that predispose to the disease whereas family based studies have identified a further eight genes that cause PDB. This brings the total number of genes and loci implicated in PDB to fourteen. Emerging evidence has shown that a number of these genes also predispose to multisystem proteinopathy syndromes where PDB is accompanied by neurodegeneration and myopathy due to the accumulation of abnormal protein aggregates, emphasising the importance of defects in autophagy in the pathogenesis of PDB. Summary Genetic factors play a key role in the pathogenesis of PDB and the studies in this area have identified several genes previously not suspected to play a role in bone metabolism. Genetic testing coupled to targeted therapeutic intervention is being explored as a way of halting disease progression and improving outcome before irreversible skeletal damage has occurred.

Role of autophagy in Paget's disease of bone

Bone ◽  
2010 ◽  
Vol 47 ◽  
pp. S229 ◽  
Author(s):  
L.J. Hocking ◽  
F.P. Coxon ◽  
E. Azzam ◽  
D.S. Miranda de Stegmann ◽  
J.G. Greenhorn ◽  
...  
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone

scholarly journals Evaluation of the role of RANK and OPG genes in Paget’s disease of bone

Bone ◽  
2001 ◽  
Vol 28 (1) ◽  
pp. 104-107 ◽  
Author(s):  
W Wuyts ◽  
L Van Wesenbeeck ◽  
A Morales-Piga ◽  
S Ralston ◽  
L Hocking ◽  
...  
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone

scholarly journals New Insights Into the Role of Sequestosome 1/p62 Mutant Proteins in the Pathogenesis of Paget's Disease of Bone

2013 ◽  
Vol 34 (4) ◽  
pp. 501-524 ◽  
Author(s):  
Sarah L. Rea ◽  
John P. Walsh ◽  
Robert Layfield ◽  
Thomas Ratajczak ◽  
Jiake Xu
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone ◽  
Mutant Proteins ◽  
Sequestosome 1

scholarly journals Apd in paget's disease of bone role of the mononuclear phagocyte system?

1980 ◽  
Vol 23 (10) ◽  
pp. 1193-1204 ◽  
Author(s):  
O. L. M. Bijvoet ◽  
W. B. Frijlink ◽  
K. Jie ◽  
H. Der Van Linden ◽  
C. J. L. M. Meijer ◽  
...  
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Mononuclear Phagocyte ◽  
Paget’S Disease Of Bone ◽  
Mononuclear Phagocyte System ◽  
Paget's Disease Of Bone

Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone

Bone ◽  
2006 ◽  
Vol 38 (2) ◽  
pp. 280-285 ◽  
Author(s):  
Gavin J.A. Lucas ◽  
Sarju G. Mehta ◽  
Lynne J. Hocking ◽  
Tracy L. Stewart ◽  
Tim Cundy ◽  
...  
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Paget's Disease Of Bone
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