A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice. (Q52610346)

4 May 2018

title

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice. (English)

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4 May 2018

author

Rob J van 't Hof

2

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4 May 2018

Robert Layfield

4

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4 May 2018

Stuart H Ralston

8

object named as

Stuart H Ralston

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4 May 2018

author name string

Anna Daroszewska

1

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4 May 2018

Javier A Rojas

3

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4 May 2018

Euphemie Landao-Basonga

5

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4 May 2018

Lorraine Rose

6

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4 May 2018

Ken Rose

7

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publication date

21 April 2011

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4 May 2018

published in

Human Molecular Genetics

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4 May 2018

volume

20

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4 May 2018

issue

14

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4 May 2018

page(s)

2734-2744

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4 May 2018

Pathogenesis and management of Paget's disease of bone.

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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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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.

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

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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

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

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Randomized trial of intensive bisphosphonate treatment versus symptomatic management in Paget's disease of bone

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

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Paget's disease in a treadle machine operator

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Somatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone

21 January 2018

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

21 January 2018

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

21 January 2018

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

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

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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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

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p62 mutations, ubiquitin recognition and Paget's disease of bone

21 January 2018

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Animal models of bone metastasis

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDR172

1 reference

4 May 2018

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4 May 2018