ReviewGerontology2014
Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.
Review in Gerontology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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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
17 citing papers in PubMed, 43 citations in OpenAlex.
- Werner Syndrome Masquerading as Type 2 Diabetes: A Diagnostic Odyssey Leading to Precision Medicine.The American journal of case reports · 2026Article
- Whole Exome Sequencing Identifies a Novel Frameshift Mutation of the WRN Gene in a Werner Syndrome Family and Functional Analysis.Molecular genetics & genomic medicine · 2025Article
- Role of Nuclear Lamins in the Regulation of the Genome: Focus on CardioLaminopathy.Sub-cellular biochemistry · 2025Review
- Peripheral neuropathies associated with DNA repair disorders.Muscle & nerve · 2023Review
- Review
- Lack of resemblance between Myhre syndrome and other "segmental progeroid" syndromes warrants restraint in applying this classification.GeroScience · 2021Article
- Article
- Everolimus rescues multiple cellular defects in laminopathy-patient fibroblasts.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.Human mutation · 2018Article
- Association of serum levels of antibodies against MMP1, CBX1, and CBX5 with transient ischemic attack and cerebral infarction.Oncotarget · 2018Article
- Accelerated epigenetic aging in Werner syndrome.Aging · 2017Article
- WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.Human mutation · 2017Review
- How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative.Cold Spring Harbor perspectives in medicine · 2016Review
- POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.Human mutation · 2015Article
- Abdominal obesity: a marker of ectopic fat accumulation.The Journal of clinical investigation · 2015Review
- Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.Nature genetics · 2014Article
- A De NovoJournal of investigative medicine high impact case reportsArticle
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Segmental progeroid syndromes are a group of disorders with multiple features resembling accelerated aging. Adult-onset Werner syndrome (WS) and childhood-onset Hutchinson-Gilford progeria syndrome are the best known examples. The discovery of genes responsible for such syndromes has facilitated our understanding of the basic mechanisms of aging as well as the pathogenesis of other common, age-related diseases. Our International Registry of Werner Syndrome accesses progeroid pedigrees from all over the world, including those for whom we have ruled out a mutation at the WRN locus. Cases without WRN mutations are operationally categorized as 'atypical WS' (AWS). In 2003, we identified LMNA mutations among a subset of AWS cases using a candidate gene approach. As of 2013, the Registry has 142 WS patients with WRN mutations, 11 AWS patients with LMNA mutations, and 49 AWS patients that have neither WRN nor LMNA mutations. Efforts are underway to identify the responsible genes for AWS with unknown genetic causes. While WS and AWS are rare disorders, the causative genes have been shown to have much wider implications for cancer, cardiovascular disease and the biology of aging. Remarkably, centenarian studies revealed WRN and LMNA polymorphic variants among those who have escaped various geriatric disorders.
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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.