ReviewCurrent osteoporosis reports2018
Genetics of Osteopetrosis.
Review in Current osteoporosis reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 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.
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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
59 citing papers in PubMed.
- In vivo screen for osteoclast derived osteogenic factors using non-resorptive osteoclasts in zebrafish bone.G3 (Bethesda, Md.) · 2026Article
- Atlantoaxial rotatory subluxation in a pediatric patient with osteopetrosis following minor trauma: illustrative case.Journal of neurosurgery. Case lessons · 2026Article
- Article
- The molecular and functional interplay between the osteopetrosis-associated proteins SNX10, OSTM1, and CLC-7 during mouse osteoclastogenesis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Osteopetrosis: Pathogenesis, Clinical Management, and Emerging Therapies.Current osteoporosis reports · 2026Review
- Clinical and Molecular Characterization ofBiomedicines · 2026Review
- The Interplay Between Bone Biology and Iron Metabolism: Molecular Mechanisms and Clinical Implications.Biomedicines · 2026Review
- The orthopaedic management of osteopetrosis in paediatric populations: a narrative review of the literature.Frontiers in pediatrics · 2026Review
- Integration of Digital Denture Technology in the Prosthodontic Management of Pediatric Osteopetrosis: A Case Report.Case reports in dentistry · 2026Article
- Review
- [Clinical and genetic characteristics of osteopetrosis in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family.BMC medical genomics · 2025Article
- Development and evaluation of siRNA-mediated gene silencing strategies for ADO2 therapy utilizing iPSCs model and DMPC-SPIONs delivery system.Stem cell research & therapy · 2025Article
- Article
- SNX10 in autosomal recessive osteosclerosis, osteosarcoma, rheumatoid arthritis, and osteoporosis: molecular mechanisms and therapeutic implications.Frontiers in cell and developmental biology · 2025Review
- Rankl genetic deficiency and functional blockade undermine skeletal stem and progenitor cell differentiation.Stem cell research & therapy · 2024Article
- Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2024Article
- Article
- Dental abnormalities in rare genetic bone diseases: Literature review.Clinical anatomy (New York, N.Y.) · 2024Review
- Osteopetrosis complicated by multilevel spondylolysis.Radiology case reports · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewThe term osteopetrosis refers to a group of rare skeletal diseases sharing the hallmark of a generalized increase in bone density owing to a defect in bone resorption. Osteopetrosis is clinically and genetically heterogeneous, and a precise molecular classification is relevant for prognosis and treatment. Here, we review recent data on the pathogenesis of this disorder. RECENT
findingsNovel mutations in known genes as well as defects in new genes have been recently reported, further expanding the spectrum of molecular defects leading to osteopetrosis. Exploitation of next-generation sequencing tools is ever spreading, facilitating differential diagnosis. Some complex phenotypes in which osteopetrosis is accompanied by additional clinical features have received a molecular classification, also involving new genes. Moreover, novel types of mutations have been recognized, which for their nature or genomic location are at high risk being neglected. Yet, the causative mutation is unknown in some patients, indicating that the genetics of osteopetrosis still deserves intense research efforts.
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