(Q37968682)

26 August 2017

Genetic determinants of Paget's disease of bone (English)

1 reference

26 August 2017

Stuart H Ralston

1

1 reference

PubMed ID

22172040

26 August 2017

Omar M E Albagha

series ordinal

2

1 reference

PubMed ID

22172040

26 August 2017

language of work or name

English

0 references

publication date

1 December 2011

1 reference

Annals of the New York Academy of Sciences

26 August 2017

1 reference

26 August 2017

1240

1 reference

26 August 2017

53-60

1 reference

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

26 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

The epidemiology of Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Epidemiology of Paget's disease in Europe: the prevalence is decreasing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Prevalence of Paget's disease of bone in Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Familial aggregation of Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

A family study of Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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/10.1111%2FJ.1749-6632.2011.06228.X

Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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/10.1111%2FJ.1749-6632.2011.06228.X

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/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Signal peptide mutations in RANK prevent downstream activation of NF-κB.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Osteoprotegerin deficiency and juvenile Paget's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Deletion of aspartate 182 in OPG causes juvenile Paget's disease by impairing both protein secretion and binding to RANKL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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/10.1111%2FJ.1749-6632.2011.06228.X

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/10.1111%2FJ.1749-6632.2011.06228.X

Involvement of valosin-containing protein, an ATPase Co-purified with IkappaBalpha and 26 S proteasome, in ubiquitin-proteasome-mediated degradation of IkappaBalpha

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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/10.1111%2FJ.1749-6632.2011.06228.X

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/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

SQSTM1 and Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

NBR1 cooperates with p62 in selective autophagy of ubiquitinated targets.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

A role for NBR1 in autophagosomal degradation of ubiquitinated substrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

DC-STAMP is essential for cell-cell fusion in osteoclasts and foreign body giant cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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/10.1111%2FJ.1749-6632.2011.06228.X

Nup93, a vertebrate homologue of yeast Nic96p, forms a complex with a novel 205-kDa protein and is required for correct nuclear pore assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Processing of optineurin in neuronal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Mutations of optineurin in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

RIN3: a novel Rab5 GEF interacting with amphiphysin II involved in the early endocytic pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

The role of PML in tumor suppression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Cytoplasmic PML function in TGF-beta signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Vitamin D receptor, oestrogen receptor-alpha and calcium-sensing receptor genotypes, bone mineral density and biochemical markers in Paget's disease of bone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

-511 C/T IL1B gene polymorphism is associated to resistance to bisphosphonates treatment in Paget disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Canine distemper virus transcripts sequenced from pagetic bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Canine distemper virus localised in bone cells of patients with Paget's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Detection of canine distemper virus in 100% of Paget's disease samples by in situ-reverse transcriptase-polymerase chain reaction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Failure to detect measles virus ribonucleic acid in bone cells from patients with Paget's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Canine distemper virus induces human osteoclastogenesis through NF-kappaB and sequestosome 1/P62 activation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Expression of measles virus nucleocapsid protein in osteoclasts induces Paget's disease-like bone lesions in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Cattle, pets, and Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

Paget's disease of bone in Lancashire and arsenic pesticide in cotton mill wastewater: a speculative hypothesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

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

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

The murine mutation osteopetrosis is in the coding region of the macrophage colony stimulating factor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1749-6632.2011.06228.X

10.1111/J.1749-6632.2011.06228.X

21 January 2018

Identifiers

DOI

1 reference

26 August 2017

1 reference

PubMed ID

22172040