SynthesisCurrent osteoporosis reports2021
The Genetics of Atypical Femur Fractures-a Systematic Review.
Synthesis in Current osteoporosis reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 28 citations in OpenAlex.
- Bisphosphonate-Related Pathological Femoral Fracture in a Child with ACTG2-Related Intestinal Failure and Metabolic Bone Disease: A Case Report.Journal of orthopaedic case reports · 2026Article
- Practical approach to the diagnosis, management, and treatment of pediatric patients with bone fragility: an expert opinion.Journal of endocrinological investigation · 2026Article
- Epidemiology, Pathophysiology and Management of Atypical Femur Fractures: an Update.Current osteoporosis reports · 2025Review
- Article
- Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Gene-based association analysis of a large patient cohort provides insights into genetics of atypical femur fractures.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Latent metabolic bone disease, skeletal dysplasia and other conditions related to low bone formation among 38 patients with subtrochanteric femoral fractures: a retrospective observational study.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2024Observational
- Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures.Human genomics · 2024Article
- Differences in bone histomorphometry between White postmenopausal women with and without atypical femoral fracture after long-term bisphosphonate therapy.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures.International journal of molecular sciences · 2024Article
- Osteoporosis and Fracture Risk among Older US Asian Adults.Current osteoporosis reports · 2023Review
- Long-term and sequential treatment for osteoporosis.Nature reviews. Endocrinology · 2023Review
- Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- Article
- The prognostic role and metabolic function of GGPS1 in oral squamous cell carcinoma.Frontiers in molecular biosciences · 2023Article
- Atypical femoral fracture in a bisphosphonate-naïve patient on denosumab for osteoporosis.Archives of osteoporosis · 2022Article
- Whole Exome Sequencing in Two Southeast Asian Families With Atypical Femur Fractures.JBMR plus · 2022Article
- Cortical bone development, maintenance and porosity: genetic alterations in humans and mice influencing chondrocytes, osteoclasts, osteoblasts and osteocytes.Cellular and molecular life sciences : CMLS · 2021Review
- Functional Analyses of FourInternational journal of molecular sciences · 2021Article
- Bilateral atypical femoral fractures during denosumab therapy in a patient with adult-onset hypophosphatasia.Endocrinology, diabetes & metabolism case reports · 2021Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewAtypical femur fractures (AFFs) are rare subtrochanteric or diaphyseal fractures regarded as side effects of bisphosphonates (BPs), possibly with a genetic background. Here, we summarize the most recent knowledge about genetics of AFFs. RECENT
findingsAFF has been reported in 57 patients with seven different monogenic bone disorders including hypophosphatasia and osteogenesis imperfecta; 56.1% had never used BPs, while 17.5% were diagnosed with the disorder only after the AFF. Gene mutation finding in familial and sporadic cases identified possible AFF-related variants in the GGPS1 and ATRAID genes respectively. Functional follow-up studies of mutant proteins showed possible roles in AFF. A recent small genome-wide association study on 51 AFF cases did not identify significant hits associated with AFF. Recent findings have strengthened the hypothesis that AFFs have underlying genetic components but more studies are needed in AFF families and larger cohorts of sporadic cases to confirm previous results and/or find novel gene variants involved in the pathogenesis of AFFs.
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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 Socratic graph.