(Q34546256)

2 August 2017

1 reference

title

Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling (English)

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2 August 2017

main subject

Paget's disease of bone

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1 reference

Michael P Whyte

1

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2 August 2017

language of work or name

English

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publication date

1 April 2006

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Annals of the New York Academy of Sciences

2 August 2017

published in

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2 August 2017

volume

1068

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2 August 2017

page(s)

143-164

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

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Osteoprotegerin deficiency and juvenile Paget's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

Studies of the murine homolog of the multiple endocrine neoplasia type 1 (MEN1) gene, men1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

Paget bone disease involving young adults in 3 generations of a Korean family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Genetic linkage of Paget disease of the bone to chromosome 18q

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Linkage of Paget disease of bone to a novel region on human chromosome 18q23.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Osteitis deformans (Paget)--or a tarda-type of a hereditary hyperphosphatasia (author's transl)

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

The radiographic features of familial expansile osteolysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

The roles of osteoprotegerin and osteoprotegerin ligand in the paracrine regulation of bone resorption.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Tumor necrosis factor receptor family member RANK mediates osteoclast differentiation and activation induced by osteoprotegerin ligand

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Osteoprotegerin ligand is a cytokine that regulates osteoclast differentiation and activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Osteoprotegerin and osteoprotegerin-ligand balance: a new paradigm in bone metabolism providing new therapeutic targets.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Osteoclast differentiation factor is a ligand for osteoprotegerin/osteoclastogenesis-inhibitory factor and is identical to TRANCE/RANKL

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

RANK is the essential signaling receptor for osteoclast differentiation factor in osteoclastogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

Conductive hearing loss caused by hereditary incus necrosis: a study of familial expansile osteolysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Familial idiopathic hyperphosphatasia (FIH): response to long-term treatment with pamidronate (APD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Arterial calcification: a review of mechanisms, animal models, and the prospects for therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Recent advances in multifactorial regulation of vascular calcification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

Association of Paget's disease of bone with calcific aortic valve disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

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/10.1196%2FANNALS.1346.016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1196%2FANNALS.1346.016

21 January 2018

Identifiers

DOI

10.1196/ANNALS.1346.016

1 reference

2 August 2017

1 reference