ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2012
RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 77 citations in OpenAlex.
- The orthopaedic management of osteopetrosis in paediatric populations: a narrative review of the literature.Frontiers in pediatrics · 2026Review
- The developmental remodeling front: resorptive cell-vascular coupling at the chondro-osseous junction.Frontiers in cell and developmental biology · 2026Review
- Paradoxical combination of osteosclerosis and osteopenia in an adult woman with biallelicJBMR plus · 2025Article
- RANK/RANKL Signaling Pathway in Breast Development and Cancer.Advances in experimental medicine and biology · 2025Review
- Osteopetrosis-like disorders induced by osteoblast-specific retinoic acid signaling inhibition in mice.Bone research · 2024Article
- Identifying the effective combination of acupuncture and traditional Chinese medicinal herbs for postmenopausal osteoporosis therapy through studies of their molecular regulation of bone homeostasis.Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan · 2024Review
- Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis.International journal of molecular sciences · 2023Review
- Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.JBMR plus · 2022Article
- AiScience · 2022Article
- A Null Mutation ofFrontiers in genetics · 2022Article
- Bone Homeostasis and Gut Microbial-Dependent Signaling Pathways.Journal of microbiology and biotechnology · 2021Review
- Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.Journal of human genetics · 2021Article
- Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation forBone reports · 2021Article
- Autosomal recessive osteopetrosis: mechanisms and treatments.Disease models & mechanisms · 2021Review
- The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.Journal of human genetics · 2021Article
- Genetic disorders associated with the RANKL/OPG/RANK pathway.Journal of bone and mineral metabolism · 2021Review
- Ostm1 from Mouse to Human: Insights into Osteoclast Maturation.International journal of molecular sciences · 2020Review
- RANK Ligand Helps Immunity toFrontiers in immunology · 2020Article
- Osteoclastogenesis inhibition by mutated IGSF23 results in human osteopetrosis.Cell proliferation · 2019Article
- The Endocrine Function of Osteocalcin Regulated by Bone Resorption: A Lesson from Reduced and Increased Bone Mass Diseases.International journal of molecular sciences · 2019Review
Corrections and comments
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Authors and funding
23 authors at 8 institutions in 4 countries.
Funding
Abstract
Autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder attributed to reduced bone resorption by osteoclasts. Most human AROs are classified as osteoclast rich, but recently two subsets of osteoclast-poor ARO have been recognized as caused by defects in either TNFSF11 or TNFRSF11A genes, coding the RANKL and RANK proteins, respectively. The RANKL/RANK axis drives osteoclast differentiation and also plays a role in the immune system. In fact, we have recently reported that mutations in the TNFRSF11A gene lead to osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Here we present the characterization of five additional unpublished patients from four unrelated families in which we found five novel mutations in the TNFRSF11A gene, including two missense and two nonsense mutations and a single-nucleotide insertion. Immunological investigation in three of them showed that the previously described defect in the B cell compartment was present only in some patients and that its severity seemed to increase with age and the progression of the disease. HSCT performed in all five patients almost completely cured the disease even when carried out in late infancy. Hypercalcemia was the most important posttransplant complication. Overall, our results further underline the heterogeneity of human ARO also deriving from the interplay between bone and the immune system, and highlight the prognostic and therapeutic implications of the molecular diagnosis.
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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.