Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone (Q51558602)

7 April 2018

title

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

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7 April 2018

author

Philip L. Riches

3

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Wim Van Hul

Wim Van Hul

21

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Marcel Karperien

17

Marcel Karperien

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Stefan Goemaere

14

Stefan Goemaere

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Stuart H Ralston

19

Stuart H Ralston

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author name string

Pui Yan Jenny Chung

1

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Greet Beyens

2

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Liesbeth Van Wesenbeeck

4

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Fenna de Freitas

5

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Karen Jennes

6

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Anna Daroszewska

7

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Erik Fransen

8

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Steven Boonen

9

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Piet Geusens

10

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Filip Vanhoenacker

11

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Leon Verbruggen

12

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Jan Van Offel

13

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Hans-Georg Zmierczak

15

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René Westhovens

16

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Socrates Papapoulos

18

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Jean-Pierre Devogelaer

20

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publication date

18 June 2010

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7 April 2018

Journal of Bone and Mineral Research

published in

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volume

25

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issue

12

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7 April 2018

page(s)

2592-2605

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The epidemiology of Paget's disease

cites work

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Osteosarcoma in Paget's disease of bone

21 January 2018

1 reference

Malignant transformation in Paget disease of bone.

21 January 2018

1 reference

Guidelines on the management of Paget's disease of bone

21 January 2018

1 reference

Paramyxovirus antigens in osteoclasts from Paget's bone tissue detected by monoclonal antibodies

21 January 2018

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Sequence analysis of measles virus nucleocapsid transcripts in patients with Paget's disease

21 January 2018

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Failure to detect paramyxovirus sequences in Paget's disease of bone using the polymerase chain reaction

21 January 2018

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Absence of measles virus and canine distemper virus transcripts in long-term bone marrow cultures from patients with Paget's disease of bone

21 January 2018

1 reference

Multicenter blinded analysis of RT-PCR detection methods for paramyxoviruses in relation to Paget's disease of bone

21 January 2018

1 reference

A family study of Paget's disease of bone

21 January 2018

1 reference

Familial aggregation of Paget's disease of bone

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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).

21 January 2018

1 reference

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

21 January 2018

1 reference

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.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Paget's disease of bone in Italy.

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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.

21 January 2018

1 reference

Genetic linkage of familial expansile osteolysis to chromosome 18q

21 January 2018

1 reference

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

21 January 2018

1 reference

Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene

21 January 2018

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Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis

21 January 2018

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Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene

21 January 2018

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Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred

21 January 2018

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Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation

21 January 2018

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

21 January 2018

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Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

A haplotype map of the human genome

21 January 2018

1 reference

Haploview: analysis and visualization of LD and haplotype maps

21 January 2018

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Efficiency and power in genetic association studies

21 January 2018

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

21 January 2018

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Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling

21 January 2018

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A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype

21 January 2018

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Osteoprotegerin deficiency and juvenile Paget's disease

21 January 2018

1 reference

Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men.

21 January 2018

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Identification of novel RANK polymorphisms and their putative association with low BMD among postmenopausal women.

21 January 2018

1 reference

Genetic polymorphisms of OPG, RANK, and ESR1 and bone mineral density in Korean postmenopausal women

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutation Screening of the TNFRSF11A Gene Encoding Receptor Activator of NFkB (RANK) in Familial and Sporadic Paget's Disease of Bone and Osteosarcoma

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Demonstrating stratification in a European American population

21 January 2018

1 reference

A Negative Search for a Paramyxoviral Etiology of Paget's Disease of Bone: Molecular, Immunological, and Ultrastructural Studies in U.K. Patients

21 January 2018

1 reference

Lack of mutations in the RANK gene in Spanish patients with Paget disease of bone

21 January 2018

1 reference

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/JBMR.162

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7 April 2018

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7 April 2018