ArticleGenes2022
Whole Genome Sequencing Unravels New Genetic Determinants of Early-Onset Familial Osteoporosis and Low BMD in Malta.
Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 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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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Contribution of rare variation to degenerative orthopedic diseases.Osteoarthritis and cartilage open · 2026Article
- Exploring DNA methylation profiles in the pathogenesis of human osteoporosis via whole-genome bisulfite sequencing.PloS one · 2026Article
- Copy Number Variation and Osteoporosis.Current osteoporosis reports · 2023Review
- An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteoporosis is a skeletal disease with a strong genetic background. The study aimed to identify the genetic determinants of early-onset familial osteoporosis and low bone mineral density (BMD) in a two-generation Maltese family.
methodsFifteen relatives aged between 28-74 years were recruited. Whole genome sequencing was conducted on 12 relatives and shortlisted variants were genotyped in the Malta Osteoporotic Fracture Study (MOFS) for replication.
resultsSequential variant filtering following a dominant inheritance pattern identified rare missense variants within
conclusionsOur findings suggest that the identified variants, alone or in combination, could be causal factors of familial osteoporosis and low BMD, requiring replication in larger collections.
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