Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders (Q36710160)

15 August 2017

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title

Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders (English)

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15 August 2017

Paget's disease of bone

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3

Stuart H Ralston

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15 August 2017

Gavin J A Lucas

1

1 reference

PubMed ID

17229006

15 August 2017

Anna Daroszewska

series ordinal

2

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15 August 2017

1 December 2006

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Journal of Bone and Mineral Research

15 August 2017

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15 August 2017

21 Suppl 2

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15 August 2017

P31-7

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A family study of Paget's disease of bone

15 August 2017

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Familial aggregation of Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Osteoprotegerin deficiency and juvenile Paget's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Prevalence of Paget's disease of bone in Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Nuclear inclusions in Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Generation of multinucleated osteoclast-like cells from canine bone marrow: effects of canine distemper virus

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Osteoclasts formed by measles virus-infected osteoclast precursors from hCD46 transgenic mice express characteristics of pagetic osteoclasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Osteoclasts expressing the measles virus nucleocapsid gene display a pagetic phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

The pro and con of measles virus in Paget's disease: con.

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

p62, a phosphotyrosine-independent ligand of the SH2 domain of p56lck, belongs to a new class of ubiquitin-binding proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Detection of measles virus nucleocapsid transcripts in circulating blood cells from patients with Paget disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Genetic linkage of familial expansile osteolysis to chromosome 18q

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis and regulation of bone mass and calcium metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Osteoprotegerin: a novel secreted protein involved in the regulation of bone density

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Molecular perspectives on p97-VCP: progress in understanding its structure and diverse biological functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Vacuole-creating protein in neurodegenerative diseases in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Early accumulation of p62 in neurofibrillary tangles in Alzheimer's disease: possible role in tangle formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

p62 Is a common component of cytoplasmic inclusions in protein aggregation diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Familial Paget's Disease of Bone: Nonlinkage to the PDB1 and PDB2 Loci on Chromosomes 6p and 18q in a Large Pedigree

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

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

https://api.crossref.org/works/10.1359%2FJBMR.06S206

Juvenile paget disease: Life-long features of a mildly affected young woman

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1359%2FJBMR.06S206

21 January 2018

Identifiers

DOI

10.1359/JBMR.06S206

1 reference

15 August 2017

1 reference

PubMed ID

17229006