ReviewHuman genetics2008
The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis.
Review in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 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
76 citing papers in PubMed, 161 citations in OpenAlex.
- Indirect genomic effects shape cancer risk across species.bioRxiv : the preprint server for biology · 2026Article
- Development of an exon 27-skipping antisense oligonucleotide as a targeted therapy for refractory skin ulcers in Werner syndrome.Molecular therapy. Nucleic acids · 2026Article
- Review
- Amelioration of premature aging in Werner syndrome stem cells by targeting SHIP/AKT pathway.Cell & bioscience · 2025Article
- A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics.American journal of human genetics · 2023Article
- Breast cancer in a Hispanic patient with Werner syndrome.Journal of radiology case reports · 2023Article
- Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations.International journal of molecular sciences · 2023Review
- Review
- Can accelerated ageing models inform us on age-related tauopathies?Aging cell · 2023Review
- A scalable variational approach to characterize pleiotropic components across thousands of human diseases and complex traits using GWAS summary statistics.medRxiv : the preprint server for health sciences · 2023Article
- WRN Is a Promising Synthetic Lethal Target for Cancers with Microsatellite Instability (MSI).Cancer treatment and research · 2023Article
- Targeting G-quadruplex for rescuing impaired chondrogenesis in WRN-deficient stem cells.Cell & bioscience · 2022Article
- Cancer and Radiosensitivity Syndromes: Is Impaired Nuclear ATM Kinase Activity the Primum Movens?Cancers · 2022Review
- Skin Abnormalities in Disorders with DNA Repair Defects, Premature Aging, and Mitochondrial Dysfunction.The Journal of investigative dermatology · 2021Review
- Fibroblasts from different body parts exhibit distinct phenotypes in adult progeria Werner syndrome.Aging · 2021Article
- Mutations Involved in Premature-Ageing Syndromes.The application of clinical genetics · 2021Review
- Roles for the 8-Oxoguanine DNA Repair System in Protecting Telomeres From Oxidative Stress.Frontiers in cell and developmental biology · 2021Review
- Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.Genes · 2020Review
- Human pluripotent stem cell-based models suggest preadipocyte senescence as a possible cause of metabolic complications of Werner and Bloom Syndromes.Scientific reports · 2020Article
- Genetic correction of Werner syndrome gene reveals impaired pro-angiogenic function and HGF insufficiency in mesenchymal stem cells.Aging cell · 2020Article
16 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Werner syndrome (WS) is an adult onset segmental progeroid syndrome caused by mutations in the WRN gene. The WRN gene encodes a 180 kDa nuclear protein that possesses helicase and exonuclease activities. The absence of WRN protein leads to abnormalities in various DNA metabolic pathways such as DNA repair, replication and telomere maintenance. Individuals with WS generally develop normally until the third decade of life, when premature aging phenotypes and a series of age-related disorders begin to manifest. In Japan, where a founder effect has been described, the frequency of Werner heterozygotes appears to be as high as 1/180 in the general population. Due to the relatively non-specific nature of the symptoms and the lack of awareness of the condition, this disease may be under-diagnosed in other parts of the world. Genetic counseling of WS patients follows the path of other autosomal recessive disorders, with special attention needed for cancer surveillance in relatives. Molecular diagnosis of WS is made by nucleotide sequencing and, in some cases, protein analysis. It is also of potential interest to measure WRN activities in WS patients. More than 50 different disease-causing mutations in the WRN gene have been identified in WS patients from all over the world. All but one of these cases has mutations that result in the premature termination of the protein. Here we describe the clinical, molecular and biochemical characteristics of WS for use by medical professionals in a health care setting. Additional information is available through the International Registry of WS (http://www.wernersyndrome.org).
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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.