ReviewClinical & developmental immunology2013
RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease.
Review in Clinical & developmental immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 39 citations in OpenAlex.
- Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.Current osteoporosis reports · 2026Review
- Human inborn errors of the alternative NF-κB pathway.Journal of human immunity · 2026Review
- Molecular Regulation of Bone Turnover in Juvenile Idiopathic Arthritis: Animal Models, Cellular Features and TNFα.Frontiers in bioscience (Landmark edition) · 2024Review
- Rankl genetic deficiency and functional blockade undermine skeletal stem and progenitor cell differentiation.Stem cell research & therapy · 2024Article
- Epithelial-like transport of mineral distinguishes bone formation from other connective tissues.Journal of cellular biochemistry · 2023Review
- Sinomenine Inhibits Orthodontic Tooth Movement and Root Resorption in Rats and Enhances Osteogenic Differentiation of PDLSCs.Drug design, development and therapy · 2022Article
- Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.Molecular genetics & genomic medicine · 2021Review
- Association ofBalkan journal of medical genetics : BJMG · 2021Article
- Autosomal recessive osteopetrosis: mechanisms and treatments.Disease models & mechanisms · 2021Review
- Genetic disorders associated with the RANKL/OPG/RANK pathway.Journal of bone and mineral metabolism · 2021Review
- The evolving therapeutic landscape of genetic skeletal disorders.Orphanet journal of rare diseases · 2019Review
- One Disease, Many Genes: Implications for the Treatment of Osteopetroses.Frontiers in endocrinology · 2019Review
- Mesenchymal Stromal Cell-Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl-Deficient Osteopetrosis.Stem cells translational medicine · 2019Article
- Cellular and Molecular Mediators of Bone Metastatic Lesions.International journal of molecular sciences · 2018Review
- Genetics of Osteopetrosis.Current osteoporosis reports · 2018Review
- Soluble RANKL expression in Lactococcus lactis and investigation of its potential as an oral vaccine adjuvant.BMC immunology · 2015Article
- Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton.International journal of endocrinology · 2015Review
- The role of TNF-α and TNF superfamily members in the pathogenesis of calcific aortic valvular disease.TheScientificWorldJournal · 2013Article
- Osteopetrosis: genetics, treatment and new insights into osteoclast function.Nature reviews. Endocrinology · 2013Review
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 4 countries.
Funding
Abstract
Since its identification, the RANKL cytokine has been demonstrated to play a crucial role in bone homeostasis and lymphoid tissue organization. Genetic defects impairing its function lead to a peculiar form of autosomal recessive osteopetrosis (ARO), a rare genetic bone disease presenting early in life and characterized by increased bone density due to failure in bone resorption by the osteoclasts. Hematopoietic stem cell transplantation (HSCT) is the only option for the majority of patients affected by this life-threatening disease. However, the RANKL-dependent ARO does not gain any benefit from this approach, because the genetic defect is not intrinsic to the hematopoietic osteoclast lineage but rather to the mesenchymal one. Of note, we recently provided proof of concept of the efficacy of a pharmacological RANKL-based therapy to cure this form of the disease. Here we provide an overview of the diverse roles of RANKL in the bone and immune systems and review the clinical features of RANKL-deficient ARO patients and the results of our preclinical studies. We emphasize that these patients present a continuous worsening of the disease in the absence of a cure and strongly wish that the therapy we propose will be further developed.
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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.