ReviewFrontiers in endocrinology2019
One Disease, Many Genes: Implications for the Treatment of Osteopetroses.
Review in Frontiers in endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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.
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Who cites it
31 citing papers in PubMed, 74 citations in OpenAlex.
- Current advances of bone homeostasis imbalance in the cause of hereditary metabolic bone diseases.EFORT open reviews · 2026Review
- Neonatal hypocalcemia and hydrocephalus as early manifestations of intermediate osteopetrosis: successful hematopoietic stem cell transplantation despite negative genetic testing: a case report.Frontiers in endocrinology · 2026Article
- SOXC are critical regulators of adult bone mass.Nature communications · 2024Article
- Osteopetrosis complicated by multilevel spondylolysis.Radiology case reports · 2024Article
- Fluconazole-Induced Protein Changes in Osteogenic and Immune Metabolic Pathways of Dental Pulp Mesenchymal Stem Cells of Osteopetrosis Patients.International journal of molecular sciences · 2023Article
- One half-century of advances in the evaluation and management of disorders of bone and mineral metabolism in children and adolescents.Journal of pediatric endocrinology & metabolism : JPEM · 2023Review
- Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review.Current issues in molecular biology · 2023Review
- Review
- Maintaining osteoclastogenesis following allogeneic hematopoietic stem cell transplantation for osteopetrosis: evidence fromHaematologica · 2022Article
- Review
- A Review on the Molecular Mechanisms of Action of Natural Products in Preventing Bone Diseases.International journal of molecular sciences · 2022Review
- Article
- Genetics and Epigenetics of Bone Remodeling and Metabolic Bone Diseases.International journal of molecular sciences · 2022Review
- A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene.Sisli Etfal Hastanesi tip bulteni · 2022Article
- Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants.BMC medical genomics · 2021Article
- 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
- 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
- Gene therapy for infantile malignant osteopetrosis: review of pre-clinical research and proof-of-concept for phenotypic reversal.Molecular therapy. Methods & clinical development · 2021Review
- Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis.Haematologica · 2021Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Osteopetrosis is a condition characterized by increased bone mass due to defects in osteoclast function or formation. In the last decades, the molecular dissection of osteopetrosis has unveiled a plethora of molecular players responsible for different forms of the disease, some of which present also primary neurodegeneration that severely limits the therapy. Hematopoietic stem cell transplantation can cure the majority of them when performed in the first months of life, highlighting the relevance of an early molecular diagnosis. However, clinical management of these patients is constrained by the severity of the disease and lack of a bone marrow niche that may delay immune reconstitution. Based on osteopetrosis genetic heterogeneity and disease severity, personalized therapies are required for patients that are not candidate to bone marrow transplantation. This review briefly describes the genetics of osteopetrosis, its clinical heterogeneity, current therapy and innovative approaches undergoing preclinical evaluation.
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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.