2014
DOI: 10.18632/aging.100649
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Abstract: Werner Syndrome (WS, ICD-10 E34.8, ORPHA902) and Atypical Werner Syndrome (AWS, ICD-10 E34.8, ORPHA79474) are very rare inherited syndromes characterized by premature aging. While approximately 90% of WS individuals have any of a range of mutations in the WRN gene, there exists a clinical subgroup in which the mutation occurs in the LMNA/C gene in heterozygosity. Although both syndromes exhibit an age-related pleiotropic phenotype, AWS manifests the onset of the disease during childhood, while major symptoms i… Show more

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Cited by 20 publications
(13 citation statements)
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References 63 publications
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“…On the other hand, the clinical trials testing MN published to date have been conducted on some selected diseases, far below the potential scope of investigation, by considering the extensive range of OS/MDF-related disorders [ 9 ]. Trying to interpret this delay, one might find one or more of the following explanations: (a) a disease is commonly recognized to rely on other etiologic grounds than OS/MDF: this is the case, e.g., of Fanconi anemia and of other genetic diseases [ 8 , 278 ]; (b) very rare diseases discourage patient recruitment in view of clinical trials as, e.g., progerias [ 8 , 279 ]; (c) the specialist community may be committed in established therapeutic strategies, thus disregarding potential adjuvant interventions.…”
Section: State-of-art: Critical Remarksmentioning
confidence: 99%
“…On the other hand, the clinical trials testing MN published to date have been conducted on some selected diseases, far below the potential scope of investigation, by considering the extensive range of OS/MDF-related disorders [ 9 ]. Trying to interpret this delay, one might find one or more of the following explanations: (a) a disease is commonly recognized to rely on other etiologic grounds than OS/MDF: this is the case, e.g., of Fanconi anemia and of other genetic diseases [ 8 , 278 ]; (b) very rare diseases discourage patient recruitment in view of clinical trials as, e.g., progerias [ 8 , 279 ]; (c) the specialist community may be committed in established therapeutic strategies, thus disregarding potential adjuvant interventions.…”
Section: State-of-art: Critical Remarksmentioning
confidence: 99%
“…After the indicated treatment, 24-well plates containing coverslips of EOMA/MAE cells were incubated with prewarmed (37°C) chloromethylfluorescein diacetate-containing medium (10 M). After 30 min at 37°C incubation, cells were washed with PBS, and real-time images were collected using a Zeiss Axiovert 200M microscope (41).…”
Section: Measurement Of Protein Carbonyl Levels and Lipidmentioning
confidence: 99%
“…Cellular NADPH, ATP, GSH, and ROS levels were measured, and the cellular distribution of GSH was evaluated using CMFDA, 95% specific for GSH (Seco-Cervera et al, 2014). Fluorescence intensity was observed with the alcohol plus CGA treatment.…”
Section: Protective Mechanism Of Cga On Alcohol-induced Hepatic Damagmentioning
confidence: 99%