ArticleAmerican journal of human genetics2013
Mutations in WNT1 cause different forms of bone fragility.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 157 papers.
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Who cites it
157 citing papers in PubMed, 281 citations in OpenAlex.
- Identification of candidate receptors mediating the osteoanabolic influence of Wnt1.JBMR plus · 2026Article
- Pathogenesis and precision management of osteogenesis imperfecta: from genetic mechanisms to novel therapies.World journal of pediatrics : WJP · 2026Review
- Expanding roles of N-glycosylation in the endoplasmic reticulum.Trends in cell biology · 2026Review
- The pathogenesis and intersecting mechanisms of monogenic bone mass disorders.Nature reviews. Endocrinology · 2026Review
- Video-based gait analysis for clinical monitoring of genotype-specific functional patterns in osteogenesis imperfecta.BMC musculoskeletal disorders · 2026Article
- Non-COL1A1/2 genetic burden and osteoporosis-overlap in patients referred with osteogenesis imperfecta phenotype.Archives of osteoporosis · 2026Article
- Bone matrix proteins: regulators of skeletal remodeling and repair.Journal of bone and mineral metabolism · 2026Review
- High genetic predisposition and vertebral fracture burden in pregnancy and lactation-associated osteoporosis: clinical insights from a Taiwanese cohort.Frontiers in endocrinology · 2026Article
- Molecular and clinical findings in Osteogenesis Imperfecta: A cohort study from a single tertiary center.Northern clinics of Istanbul · 2026Article
- Severe early-onset osteoporosis due to heterozygous WNT1 variants in adults: a clinical and therapeutic challenge.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Article
- Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Clinical science (London, England : 1979) · 2025Review
- Application of Systematic Review and Meta-Analysis in Musculoskeletal Research.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Analysis of Transcriptional Regulation in Bone Cells.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Wnt family members regulating osteogenesis and their origins.Journal of bone and mineral metabolism · 2025Review
- Update on the Genetics of Osteogenesis Imperfecta.Calcified tissue international · 2024Review
- Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta.JBMR plus · 2024Article
- Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Osteomodulin deficiency in mice causes a specific reduction of transversal cortical bone size.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- The evolving roles of Wnt signaling in stem cell proliferation and differentiation, the development of human diseases, and therapeutic opportunities.Genes & diseases · 2024Review
- Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.Molecular biology reports · 2024Article
97 more citing papers are in PubMed but not listed here.
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Authors and funding
36 authors at 16 institutions in 5 countries.
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Abstract
We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis imperfecta, a congenital disorder characterized by reduced bone mass and recurrent fractures. In consanguineous families, we identified five homozygous mutations in WNT1: one frameshift mutation, two missense mutations, one splice-site mutation, and one nonsense mutation. In addition, in a family affected by dominantly inherited early-onset osteoporosis, a heterozygous WNT1 missense mutation was identified in affected individuals. Initial functional analysis revealed that altered WNT1 proteins fail to activate canonical LRP5-mediated WNT-regulated β-catenin signaling. Furthermore, osteoblasts cultured in vitro showed enhanced Wnt1 expression with advancing differentiation, indicating a role of WNT1 in osteoblast function and bone development. Our finding that homozygous and heterozygous variants in WNT1 predispose to low-bone-mass phenotypes might advance the development of more effective therapeutic strategies for congenital forms of bone fragility, as well as for common forms of age-related osteoporosis.
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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 OpenQuestion graph.