ArticleThe New England journal of medicine2013
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
Article in The New England journal of medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 204 papers, 3 of them syntheses that pooled it.
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Who cites it
204 citing papers in PubMed, 3 syntheses or guidelines pooled it, 351 citations in OpenAlex.
- Association of rs3736228 polymorphism in LRP5 gene with bone fracture and osteoporosis: a systematic review and updated meta-analysis.BMC musculoskeletal disorders · 2026Pooled it
- Pregnancy and Lactation Associated Osteoporosis of the Hip: A Systematic Review.Calcified tissue international · 2026Pooled it
- Clinical guidelines for the prevention and treatment of osteoporosis: summary statements and recommendations from the Italian Society for Orthopaedics and Traumatology.Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and Traumatology · 2017Guideline
- 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
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Genetic contributors to osteoporosis in pregnancy and lactation associated osteoporosis (PLO).Bone · 2026Article
- Biologics for bone regeneration: advances in cell, protein, gene, and mRNA therapies.Bone research · 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
- PathogenicFrontiers in endocrinology · 2026Article
- Astragaloside IV modulates oxidative stress and osteoimmune-Wnt signaling in ovariectomized rats: an integrated study of RNA sequencing, molecular docking, and experimental validation.Frontiers in nutrition · 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
- The Role of Osteoblasts in Phenotypic Variability of Dominant Osteogenesis Imperfecta: Evidence from Patients and Murine Models.International journal of molecular sciences · 2025Article
- Piezo1-mediated mechanotransduction controls osteocyte maturation and dendrite development via a YAP-CCN-Src signaling axis.Nature communications · 2025Article
- Harnessing engineered exosomes as METTL3 carriers: Enhancing osteogenesis and suppressing lipogenesis in bone marrow mesenchymal stem cells for postmenopausal osteoporosis treatment.Materials today. Bio · 2025Article
- Endoplasmic reticulum stress disrupts signaling via altered processing of transmembrane receptors.Cell communication and signaling : CCS · 2025Article
144 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 10 institutions in 4 countries.
Funding
Abstract
This report identifies human skeletal diseases associated with mutations in WNT1. In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly). In a separate family with 2 siblings affected by recessive osteogenesis imperfecta, we identified a homozygous nonsense mutation, c.884C→A, p.Ser295*. In vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signaling, their target genes, and mineralization. In mice, Wnt1 was clearly expressed in bone marrow, especially in B-cell lineage and hematopoietic progenitors; lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of altered cross-talk in WNT signaling between the hematopoietic and osteoblastic lineage cells in these diseases.
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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.