Genotype-phenotype correlation in juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene (Q38013655)

27 August 2017

Genotype-phenotype correlation in juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene (English)

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genotype-phenotype correlation

27 August 2017

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27 August 2017

6

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27 August 2017

Flaviana Marzano

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Maria F. Faienza

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Maria Felicia Faienza

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Giacomina Brunetti

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Giacomina Brunetti

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Luciano Cavallo

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Luciano Cavallo

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author name string

Annamaria Ventura

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PubMed ID

22638612

27 August 2017

language of work or name

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26 May 2012

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27 August 2017

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27 August 2017

42

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27 August 2017

266-271

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27 August 2017

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https://scigraph.springernature.com/pub.10.1007/s12020-012-9705-0

27 August 2017

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cites work

Paget disease of bone

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https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

Osteoclast differentiation from circulating mononuclear precursors in Paget's disease is hypersensitive to 1,25-dihydroxyvitamin D(3) and RANKL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

Atypical multinucleated cells form in long-term marrow cultures from patients with Paget's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

Enhanced RANK ligand expression and responsivity of bone marrow cells in Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

Guidelines on the management of Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

Common mechanisms of osteosarcoma and Paget's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

Paget's sarcoma: a historical and outcome review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

Cattle, pets, and Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

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/10.1007%2FS12020-012-9705-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

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/10.1007%2FS12020-012-9705-0

Genetic aspects of the Paget's disease of bone: concerns on the introduction of DNA-based tests in the clinical practice. Advantages and disadvantages of its application

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

Genetics and aetiology of Pagetic disorders of bone

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

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/10.1007%2FS12020-012-9705-0

Osteoprotegerin deficiency and juvenile Paget's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

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/10.1007%2FS12020-012-9705-0

Familial hyperphosphatasemia: diagnosis in early infancy and response to human thyrocalcitonin therapy

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

Osteoclast differentiation and activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

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/10.1007%2FS12020-012-9705-0

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/10.1007%2FS12020-012-9705-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12020-012-9705-0

Familial idiopathic hyperphosphatasia: a study of two young siblings treated with porcine calcitonin

21 January 2018

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12 December 2020

Chronic idiopathic hyperphosphatasia in an Indian child.

1 reference

12 December 2020

Hereditary hyperphosphatasia. Studies of three siblings

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12 December 2020

Sarcomas arising in Paget disease of bone: a clinicopathologic analysis of 70 cases

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12 December 2020

Differential Gene Expression in Cultured Osteoblasts and Bone Marrow Stromal Cells From Patients With Paget's Disease of Bone

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12 December 2020

Congenital hyperphosphatasia (juvenile Paget's disease). Eleven years follow-up of three sisters

1 reference

12 December 2020

Chronic idiopathic hyperphosphatasia: a case with malabsorption syndrome

1 reference

12 December 2020

Hyperphosphatasemia in an adult. Clinical, roentgenographic, and histomorphometric findings and comparison to classical Paget's disease.

1 reference

12 December 2020

Tetracycline-based measurements of the bone dynamics in the rib of a girl with hyperphosphatasia

1 reference

12 December 2020

Distribution of Paget's disease in England, Wales and Scotland and a possible relationship with vitamin D deficiency in childhood

1 reference

12 December 2020

Chronic idiopathic hyperphosphatasia associated with pseudoxanthoma elasticum

1 reference

12 December 2020

Paget's disease of bone: histologic analysis of 754 patients

1 reference

12 December 2020

Seeking the elusive etiology of Paget disease: a progress report

1 reference

12 December 2020

Serum OPG and RANKL levels before and after intravenous bisphosphonate treatment in Paget's disease of bone

1 reference

12 December 2020

Familial expansile osteolysis. A new dysplasia

1 reference

12 December 2020

Paget's disease of bone

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12 December 2020

Bone marrow mononuclear cells from patients with Paget's disease contain measles virus nucleocapsid messenger ribonucleic acid that has mutations in a specific region of the sequence

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12 December 2020

Ultrastructural characteristics of osteoclasts in Paget's disease

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12 December 2020

Recombinant osteoprotegerin for juvenile Paget's disease

1 reference

12 December 2020

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

1 reference

12 December 2020

Epidemiological aspects of Paget's disease: family history and relationship to other medical conditions

1 reference

12 December 2020

Chronic familial hyperphosphatasemia

1 reference

12 December 2020

Abnormalities in osteoclast precursors and marrow accessory cells in Paget's disease

1 reference

12 December 2020

Congenital hyperphosphatasia. A clinical, pathological, and biochemical study of two cases

1 reference

12 December 2020

Familial hyperphosphatasemia with ateliosis and hypermetabolism of growing membranous bone; review of the clinical, radiographic and chemical features

1 reference

12 December 2020

An histologic and histochemical study of familial osteoectasia. (Chronic idiopathic hyperphosphatasia).

1 reference

12 December 2020

10.1007/S12020-012-9705-0

Identifiers

DOI

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27 August 2017

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PubMed ID

22638612