A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease (Q39460310)

12 September 2017

title

A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease (English)

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12 September 2017

Daniela Formicola

10

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Fernando Gianfrancesco

Fernando Gianfrancesco

1

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Daniela Merlotti

Daniela Merlotti

6

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Teresa Esposito

Teresa Esposito

5

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Robert Layfield

Robert Layfield

12

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Mark S. Searle

Mark Searle

16

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Alice Goode

9

Alice Goode

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20

Luigi Gennari

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2

Domenico Rendina

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12 September 2017

Marco Di Stefano

3

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Alessandra Mingione

4

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Salvatore Gallone

7

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Sara Magliocca

8

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Giovanna Morello

11

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Annalisa Frattini

13

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Gianpaolo De Filippo

14

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Ranuccio Nuti

15

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Pasquale Strazzullo

17

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Giancarlo Isaia

18

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Giuseppe Mossetti

19

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publication date

1 February 2012

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Journal of Bone and Mineral Research

12 September 2017

number of pages

10

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based on heuristic

inferred from page(s)

published in

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12 September 2017

volume

27

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issue

2

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12 September 2017

page(s)

443-452

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12 September 2017

cites work

Paget disease of bone

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Pathogenesis and management 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

Pathogenesis of Paget's disease of bone

21 January 2018

1 reference

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

21 January 2018

1 reference

The molecular pathogenesis of Paget disease of bone.

21 January 2018

1 reference

Recent advances in understanding the molecular basis of Paget disease of bone

21 January 2018

1 reference

Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease

21 January 2018

1 reference

A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment

21 January 2018

1 reference

Etiologic factors 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

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

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.

21 January 2018

1 reference

Receptor activator of nuclear factor kappaB ligand and osteoprotegerin regulation of bone remodeling in health and disease.

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

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

21 January 2018

1 reference

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

21 January 2018

1 reference

Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease.

21 January 2018

1 reference

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

21 January 2018

1 reference

Modularity in the TNF-receptor family

21 January 2018

1 reference

Structural and functional insights of RANKL-RANK interaction and signaling

21 January 2018

1 reference

Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture

21 January 2018

1 reference

Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies

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

1 reference

Denosumab for prevention of fractures in postmenopausal women with osteoporosis

21 January 2018

1 reference

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

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

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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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

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/JBMR.542

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12 September 2017

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