ReviewEndocrine2012
Genotype-phenotype correlation in juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene.
Review in Endocrine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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Who cites it
14 citing papers in PubMed.
- Copy number variants in short children born small for gestational age.Hormone research in paediatrics · 2014Trial
- Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B gene.Orphanet journal of rare diseases · 2025Article
- Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development.International journal of molecular sciences · 2023Article
- Review
- Irisin serum levels are positively correlated with bone mineral status in a population of healthy children.Pediatric research · 2019Article
- Effects of Sweet Cherry Polyphenols on Enhanced Osteoclastogenesis Associated With Childhood Obesity.Frontiers in immunology · 2019Article
- Mechanisms Involved in Childhood Obesity-Related Bone Fragility.Frontiers in endocrinology · 2019Review
- Acquired resistance to pamidronate treated effectively with zoledronate in juvenile Paget's disease.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Article
- Deciphering the Relationship between Obesity and Various Diseases from a Network Perspective.Genes · 2017Article
- Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.American journal of medical genetics. Part A · 2016Review
- Polymorphisms of CSF1 and TM7SF4 genes in a case of mild juvenile Paget's disease found using next-generation sequencing.Croatian medical journal · 2015Article
- The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.Italian journal of pediatrics · 2014Review
- Osteoprotegerin contributes to the metastatic potential of cells with a dysfunctional TSC2 tumor-suppressor gene.The American journal of pathology · 2013Article
- Postmenopausal osteoporosis: the role of immune system cells.Clinical & developmental immunology · 2013Review
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Juvenile Paget disease (JPD) {MIM 239000} is a rare inherited bone disease that affects children. The patients affected with JPD present an altered bone turnover, therefore, show a phenotype characterized by progressive bone deformities, fractures, and short stature. Deletions or missense mutations of the TNFRSN11B gene are common in these children. This gene encodes a soluble protein, the osteoprotegerin, which leads to uncontrolled osteoclastogenesis when mutated. JPD is characterized by a strong genotype-phenotype correlation, so depending on the alteration of the TNFRSN11B gene, the phenotype is variable. This review describes the different clinical features which are characteristic of JPD and the correspondence with the different molecular alterations of the TNFRSN11B gene.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.