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

main subject

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

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15 August 2017

Anna Daroszewska

series ordinal

2

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15 August 2017

publication date

1 December 2006

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Journal of Bone and Mineral Research

15 August 2017

published in

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15 August 2017

volume

21 Suppl 2

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15 August 2017

page(s)

P31-7

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A family study of Paget's disease of bone

15 August 2017

cites work

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Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease

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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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Osteoprotegerin deficiency and juvenile Paget's disease

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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

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

21 January 2018

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

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

21 January 2018

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Prevalence of Paget's disease of bone in Italy

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

21 January 2018

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Nuclear inclusions in Paget's disease of bone

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

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

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Osteoclasts expressing the measles virus nucleocapsid gene display a pagetic phenotype

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

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

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

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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).

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

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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Genetic linkage of familial expansile osteolysis to chromosome 18q

21 January 2018

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

21 January 2018

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

21 January 2018

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

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

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and 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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21 January 2018

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

21 January 2018

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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

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

21 January 2018

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

21 January 2018

1 reference

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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

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

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1359/JBMR.06S206

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15 August 2017

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