(Q57848887)

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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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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 (English)

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object named as

Wim Van Hul

15

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Marcel Karperien

6

object named as

Marcel Karperien

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Stefan Goemaere

11

object named as

Stefan Goemaere

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author name string

Pui Yan Jenny Chung

1

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Greet Beyens

2

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Steven Boonen

3

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Socrates Papapoulos

4

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Piet Geusens

5

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Filip Vanhoenacker

7

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Leon Verbruggen

8

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Erik Fransen

9

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Jan Van Offel

10

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Hans-Georg Zmierczak

12

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René Westhovens

13

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Jean-Pierre Devogelaer

14

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publication date

14 September 2010

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128

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6

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615-626

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https://scigraph.springernature.com/pub.10.1007/s00439-010-0888-2

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Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0888-2

21 January 2018

Paget disease of bone

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0888-2

21 January 2018

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

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for secular change in Paget's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for linkage between HLA and Paget's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paget's disease of bone in New Zealand: continued decline in disease severity.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Attributable risk percent in case-control studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a Major Locus for Paget's Disease on Chromosome 10p13 in Families of British Descent

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A family study of Paget's disease of bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characteristics and familial aggregation of Paget's disease of bone in Italy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SQSTM1 and Paget's disease of bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and functional properties of the ubiquitin binding protein p62

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of Paget's disease of bone in Spain

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency and characteristics of familial aggregation of paget's disease of bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haploview: analysis and visualization of LD and haplotype maps

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paget's disease of bone in Italy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The influence of serum cytokines and growth factors on osteoclast formation in Paget's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial aggregation of Paget's disease of bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of measles virus nucleocapsid protein in osteoclasts induces Paget's disease-like bone lesions in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of environmental factors in familial versus sporadic Paget's disease of bone--the New England Registry for Paget's Disease of Bone.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DC-STAMP is essential for cell-cell fusion in osteoclasts and foreign body giant cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Is Paget's disease of bone disappearing?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Roles of macrophage-colony stimulating factor and osteoclast differentiation factor in osteoclastogenesis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The epidemiology of Paget's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20839008

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S00439-010-0888-2

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