Results 11 to 20 of about 2,574,835 (312)
NAD+ augmentation restores mitophagy and limits accelerated aging in Werner syndrome [PDF]
Nature Communications, 2019 The molecular mechanisms of mitochondrial dysfunction in the premature ageing Werner syndrome were elusive. Here the authors show that NAD+ depletion-induced impaired mitophagy contributes to this phenomenon, shedding light on potential therapeutics.
Evandro F. Fang +28 more
doaj +3 more sources
Research on Werner Syndrome: Trends from Past to Present and Future Prospects. [PDF]
Genes (Basel), 2022 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 ...
Tsuge K, Shimamoto A.
europepmc +2 more sources
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases. [PDF]
J Med Genet, 2022 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.
Miller DE +15 more
europepmc +2 more sources
Time gap between the onset and diagnosis in Werner syndrome: a nationwide survey and the 2020 registry in Japan. [PDF]
Aging (Albany NY), 2020 Patients with Werner syndrome present with diverse signs of aging that begin in adolescence. A Japanese nationwide survey was conducted to establish a registry that could clarify the disease profile of patients with Werner syndrome.
Koshizaka M +23 more
europepmc +2 more sources
Proceedings of the Royal Society of Medicine, 1974 老化過程研究の好個のモデルと考えられる Werner 症候群の1剖検例を報告した. 患者は男性で, 思春期前後より漸次, 嗄声, 足底部皮膚硬化, 両側若年性白内障を来たし, 高血圧にて入院. 既往歴も勘案し本症の診断を受けて加療中, 29歳時に心, 腎不全にて死亡. 家族歴で, 両親はいとこ同士の結婚であるが, 同胞には本症を疑わせる者はいなかった. 検査所見では, 心, 腎不全を思わせる以外に, 内分泌機能も含め, 特記すべき事はなかった.剖検所見は外見上, 禿頭, 白髪, 顔面皮膚の萎縮のため, 年齢よりはるかに老けてみえた. 下腹, 下肢には, 色素沈着を伴う皮膚萎縮, 足底部皮膚硬化, 左眼義眼装着, 右眼白内障術後状態, 腋毛, 恥毛脱落, 精巣および陰茎萎縮を認めた. 心血管系は心肥大
David Rickards +2 more
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Complete Uterine Septum with Duplicate Cervix, Longitudinal Vaginal Septum and Unilateral Vaginal Obstruction (Herlyn-Werner-Wunderlich Syndrome): A Case Report of a Mullerian Duct Anomaly [PDF]
Women’s Health Bulletin, 2021 Introduction:Herlyn-Werner-Wunderlich Syndrome (HWWs) is a rare variant of Mullerian duct anomalies. It is associated with a wide range of gynecological and obstetric complications, such as urinary incontinence, urinary retention, endometriosis, pelvic ...
Leili Hafizi +2 more
doaj +1 more source
Herlyn-Werner-Wunderlich Syndrome: A Case Report
Journal of Nepal Medical Association, 2023 Herlyn-Werner-Wunderlich syndrome is a rare Mullerian and mesonephric ductal anomaly characterized by a triad of didelphys uterus, obstructed hemivagina, and ipsilateral renal agenesis complex.
Priyanka Vaidya +2 more
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Exploration of Medicine, 2023 Progeroid syndromes are characterized by clinical signs of premature ageing, which may contain several diseases such as Werner syndrome, Bloom syndrome, Rothmund-Thomson syndrome, Hutchinson-Gilford progeria syndrome, and Cockayne syndrome.
Naoko Suga +3 more
doaj +1 more source
The Lancet, 1970 Abstract A patient with Werner's syndrome is presented. The typical clinical picture includes: (1) premature senility with cataract formation; (2) short stature with spindly extremities and (3) sclerodermatous skin changes. The X-ray findings include: (1) generalised osteoporosis; (2) an unusual and asymmetrical osteoarthritis; (3) generalised ...
Ellyn Stecker, H. Allen Gardner
+10 more sources