Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK (Q34307564)

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10 March 2020

title

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK (English)

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10 March 2020

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5

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10 March 2020

1

Michael P Whyte

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10 March 2020

3

William H McAlister

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10 March 2020

8

Steven Mumm

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10 March 2020

author name string

Cristina Tau

2

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10 March 2020

Xiafang Zhang

4

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10 March 2020

Virginia Preliasco

6

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10 March 2020

Eduardo Santini-Araujo

7

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10 March 2020

publication date

23 July 2014

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10 March 2020

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10 March 2020

volume

68

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10 March 2020

page(s)

153-161

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Chronic idiopathic hyperphosphatasia with unusual dental findings - A case report

10 March 2020

cites work

1 reference

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Denosumab treatment for juvenile Paget's disease: results from two adult patients with osteoprotegerin deficiency ("Balkan" mutation in the TNFRSF11B gene).

6 July 2018

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Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.

6 July 2018

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Osteopetrosis: genetics, treatment and new insights into osteoclast function.

6 July 2018

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Denosumab treatment of metastatic giant-cell tumor of bone in a 10-year-old girl

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Juvenile paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygous TNFRSF11B mutation

6 July 2018

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Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

6 July 2018

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

6 July 2018

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Ocular manifestations of juvenile Paget disease

6 July 2018

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New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis.

6 July 2018

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Characterization of eight different tetracyclines: advances in fluorescence bone labeling

6 July 2018

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Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

6 July 2018

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Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family

6 July 2018

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Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations

6 July 2018

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Functions of RANKL/RANK/OPG in bone modeling and remodeling

6 July 2018

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Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels

6 July 2018

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Hereditary bilateral conductive hearing loss caused by total loss of ossicles: a report of familial expansile osteolysis

6 July 2018

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Paracrine regulation of osteoclast formation and activity: milestones in discovery.

6 July 2018

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Loss of chaotic trabecular structure in OPG-deficient juvenile Paget's disease patients indicates a chaogenic role for OPG in nonlinear pattern formation of trabecular bone

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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Osteoprotegerin reverses osteoporosis by inhibiting endosteal osteoclasts and prevents vascular calcification by blocking a process resembling osteoclastogenesis

6 July 2018

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

6 July 2018

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Tooth root resorption associated with a familial bone dysplasia affecting mother and daughter

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease.

28 October 2018

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Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

28 October 2018

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

28 October 2018

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Clinical and biochemical response of TNFRSF11A-mediated early-onset familial Paget disease to bisphosphonate therapy

28 October 2018

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Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases

28 October 2018

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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.

28 October 2018

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Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation

28 October 2018

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

28 October 2018

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The influence of Lys3Asn polymorphism in the osteoprotegerin gene on bone mineral density in Chinese postmenopausal women.

28 October 2018

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

28 October 2018

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Chronic idiopathic hyperphosphatasia: normalization of bone turnover with cyclical intravenous pamidronate therapy

28 October 2018

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Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene

28 October 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

28 October 2018

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Osteoprotegerin deficiency and juvenile Paget's disease

28 October 2018

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Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease

28 October 2018

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

28 October 2018

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Classification and management of congenital abnormalities of the femur.

28 October 2018

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

28 October 2018

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Post-partum hypercalcemia in hereditary hyperphosphatasia (juvenile Paget's disease)

28 October 2018

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12 December 2020

Chronic idiopathic hyperphosphatasia associated with pseudoxanthoma elasticum

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

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Hereditary bone dysplasia with hyperphosphatasaemia: response to synthetic human calcitonin

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First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI

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

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Osteolytic-Expansive Type of Familial Paget's Disease (Osteitis Deformans)

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Clinical practice. Paget's disease of bone

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Bilateral cavernous internal carotid aneurysms in a child with juvenile paget disease and osteoprotegerin deficiency

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12 December 2020

Association of the 163A/G and 1181G/C osteoprotegerin polymorphism with bone mineral density

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12 December 2020

Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis

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12 December 2020

Denosumab for post-transplantation hypercalcemia in osteopetrosis

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12 December 2020

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

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10.1016/J.BONE.2014.07.019

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25063546 AND SRC:MED&resulttype=core&format=json

10 March 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25063546 AND SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

25063546

1 reference