(Q46130063)

English

Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms

scientific article published on 31 March 2011

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scholarly article

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Paget's disease of bone

1 reference

based on heuristic

inferred from title

object named as

Wim Van Hul

13

0 references

Stefan Goemaere

9

object named as

Stefan Goemaere

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

author name string

Pui Yan Jenny Chung

1

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Greet Beyens

2

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Fenna de Freitas

3

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Steven Boonen

4

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Piet Geusens

5

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Filip Vanhoenacker

6

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Leon Verbruggen

7

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Jan Van Offel

8

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Hans-Georg Zmierczak

10

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

René Westhovens

11

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Europe PubMed Central

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19 December 2017

http://europepmc.org/abstract/MED/21501964

Jean-Pierre Devogelaer

12

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

publication date

31 March 2011

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Molecular Genetics and Metabolism

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

103

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

3

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

287-292

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

Evidence of geographic variation in the occurrence of Paget's disease

1 reference

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The epidemiology of Paget's disease

1 reference

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7 January 2021

Paget's disease of bone in patients younger than 40 years.

1 reference

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7 January 2021

The epidemiology of Paget's disease in Britain: is the prevalence decreasing?

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Paget's disease in New Zealand: evidence for declining prevalence.

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Prevalence of Paget's disease of bone in Spain

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Epidemiology of Paget's disease in Europe: the prevalence is decreasing.

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Long-term trends in the incidence of Paget's disease of bone.

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Incidence and natural history of Paget's disease of bone in England and Wales.

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Is Paget's disease of bone disappearing?

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Osteosarcoma in Paget's disease of bone

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Genetic linkage of Paget disease of the bone to chromosome 18q

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Linkage of Paget disease of bone to a novel region on human chromosome 18q23.

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Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees

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7 January 2021

Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity

1 reference

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7 January 2021

Familial Paget’s disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q

1 reference

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7 January 2021

Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35

1 reference

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7 January 2021

Paget disease of bone: mapping of two loci at 5q35-qter and 5q31.

1 reference

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7 January 2021

A Probable Linkage Between Familial Paget's Disease and the HLA Loci*

1 reference

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Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease

1 reference

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7 January 2021

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone

1 reference

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The atypical PKC-interacting protein p62 is an important mediator of RANK-activated osteoclastogenesis.

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Structure and functional properties of the ubiquitin binding protein p62

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Identification and molecular characterization of a novel splice-site mutation (G1205C) in the SQSTM1 gene causing Paget's disease of bone in an extended American family.

1 reference

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7 January 2021

Founder Effect in Different European Countries for the Recurrent P392L SQSTM1 Mutation in Paget’s Disease of Bone

1 reference

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7 January 2021

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

1 reference

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7 January 2021

Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations

1 reference

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7 January 2021

Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).

1 reference

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7 January 2021

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

1 reference

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7 January 2021

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

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7 January 2021

Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences

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7 January 2021

Three Novel Mutations in SQSTM1 Identified in Familial Paget's Disease of Bone

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Vitamin D receptor gene polymorphisms predict acquired resistance to clodronate treatment in patients with Paget's disease of bone.

1 reference

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7 January 2021

A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype.

1 reference

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7 January 2021

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.

1 reference

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7 January 2021

Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone

1 reference

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7 January 2021

Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population

1 reference

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7 January 2021

p62 ubiquitin binding-associated domain mediated the receptor activator of nuclear factor-kappaB ligand-induced osteoclast formation: a new insight into the pathogenesis of Paget's disease of bone

1 reference

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7 January 2021

Loss of Ubiquitin-Binding Associated With Paget's Disease of Bone p62 (SQSTM1) Mutations

1 reference

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7 January 2021

Loss of Ubiquitin Binding Is a Unifying Mechanism by Which Mutations of SQSTM1 Cause Paget’s Disease of Bone

1 reference

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7 January 2021

Structure of the ubiquitin-associated domain of p62 (SQSTM1) and implications for mutations that cause Paget's disease of bone

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Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone

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SQSTM1 and Paget's disease of bone

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Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family

1 reference

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Paget's disease of bone in Italy.

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Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.

1 reference

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7 January 2021

Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone

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Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone

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Sequestosome 1 (SQSTM1) Mutations in Paget’s Disease of Bone from the United States

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Paget disease of bone

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Canine distemper virus induces human osteoclastogenesis through NF-kappaB and sequestosome 1/P62 activation.

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Evaluation of the role of RANK and OPG genes in Paget's disease of bone

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Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin

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Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone.

1 reference

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Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.

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The majority of the genetic risk for Paget’s disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes

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Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

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Interleukin-6, IL-6 receptor, and IL-6 nuclear factor gene expression in paget's disease

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The molecular triad OPG/RANK/RANKL: involvement in the orchestration of pathophysiological bone remodeling

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Identifiers

10.1016/J.YMGME.2011.03.021

1 reference

Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/21501964

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