Studying Werner syndrome to elucidate mechanisms and therapeutics of human aging and age-related diseases
Sign Up to like & getrecommendations! Published in 2019 at "Biogerontology"
DOI: 10.1007/s10522-019-09798-2
Abstract: Aging is a natural and unavoidable part of life. However, aging is also the primary driver of the dominant human diseases, such as cardiovascular disease, cancer, and neurodegenerative diseases, including Alzheimer’s disease. Unraveling the sophisticated… read more here.
Keywords: age related; related diseases; werner syndrome; human aging ... See more keywords
Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions
Sign Up to like & getrecommendations! Published in 2017 at "Ageing Research Reviews"
DOI: 10.1016/j.arr.2016.03.002
Abstract: Werner syndrome (WS) is a prototypical segmental progeroid syndrome characterized by multiple features consistent with accelerated aging. It is caused by null mutations of the WRN gene, which encodes a member of the RECQ family… read more here.
Keywords: clinical features; therapeutic interventions; werner syndrome; pathogenesis potential ... See more keywords
Werner syndrome (WRN) gene variants and their association with altered function and age-associated diseases
Sign Up to like & getrecommendations! Published in 2018 at "Ageing Research Reviews"
DOI: 10.1016/j.arr.2017.11.003
Abstract: Werner syndrome (WS) is a heritable autosomal recessive human disorder characterized by the premature onset of several age-associated pathologies including cancer. The protein defective in WS patients, WRN, is encoded by a member of the… read more here.
Keywords: age; werner syndrome; age associated; syndrome wrn ... See more keywords
Reduction of Werner Syndrome Protein Enhances G:C → A:T Transition by O6-Methylguanine in Human Cells.
Sign Up to like & getrecommendations! Published in 2018 at "Chemical research in toxicology"
DOI: 10.1021/acs.chemrestox.8b00009
Abstract: O6-Methylguanine ( O6-MeG) is a damaged base produced by methylating reagents. The Werner syndrome protein (WRN) is a cancer-related human DNA helicase. The effects of WRN reduction on O6-MeG-caused mutagenesis were assessed by an siRNA-mediated… read more here.
Keywords: syndrome protein; meg; methylguanine; werner syndrome ... See more keywords
SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14140
Abstract: Prompt diagnosis of complex phenotypes is a challenging task in clinical genetics. Whole exome sequencing has proved to be effective in solving such conditions. Here, we report on an unpredictable presentation of Werner Syndrome (WRNS)… read more here.
Keywords: interaction; likely resulting; negative genetic; resulting negative ... See more keywords
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2022-108485
Abstract: Background Werner syndrome (WS) is an autosomal recessive progeroid syndrome caused by variants in WRN. The International Registry of Werner Syndrome has identified biallelic pathogenic variants in 179/188 cases of classical WS. In the remaining… read more here.
Keywords: pathogenic variants; targeted long; read sequencing; werner syndrome ... See more keywords
Nailfold scleroderma-like capillary abnormalities in Werner syndrome (adult progeria)
Sign Up to like & getrecommendations! Published in 2017 at "Vascular Medicine"
DOI: 10.1177/1358863x17692667
Abstract: A 49-year-old male was referred to our rheumatology division for suspicion of a scleroderma spectrum disorder. He spontaneously suffered from large, deep ulcers on both legs, around the left Achilles tendon, lateral malleolus and elbows… read more here.
Keywords: abnormalities werner; nailfold scleroderma; capillary abnormalities; werner syndrome ... See more keywords
Do you know this syndrome? Werner syndrome*
Sign Up to like & getrecommendations! Published in 2017 at "Anais Brasileiros de Dermatologia"
DOI: 10.1590/abd1806-4841.20174640
Abstract: Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts,… read more here.
Keywords: syndrome; werner syndrome; syndrome werner; know syndrome ... See more keywords
Research on Werner Syndrome: Trends from Past to Present and Future Prospects
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DOI: 10.3390/genes13101802
Abstract: A rare and autosomal recessive premature aging disorder, Werner syndrome (WS) is characterized by the early onset of aging-associated diseases, including shortening stature, alopecia, bilateral cataracts, skin ulcers, diabetes, osteoporosis, arteriosclerosis, and chromosomal instability, as… read more here.
Keywords: disease; research werner; syndrome trends; trends past ... See more keywords
A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular medicine reports"
DOI: 10.3892/mmr.2017.6465
Abstract: Werner Syndrome (WS) is a rare, adult‑onset progeroid syndrome that is associated with multiple age‑associated complications and relatively short life expectancy. The characteristics of WS include a 'bird‑like' appearance, canities, cataracts and ulcerations around the… read more here.
Keywords: site mutation; consanguineous family; family; splice site ... See more keywords
Meningioma in a Patient with Werner Syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Neurology India"
DOI: 10.4103/0028-3886.284350
Abstract: Werner syndrome (WS), also known as adult progeria, is extremely rare, with about 1300 known cases in the world, with over 1000 of these in Japan. It occurs due to loss of function mutations in… read more here.
Keywords: werner; patient werner; werner syndrome; meningioma patient ... See more keywords