Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome [PDF]
Junko Oshima, Fuki M. Hisama
openalex +2 more sources
Recent Advances in Understanding Werner Syndrome
Aging, the universal phenomenon, affects human health and is the primary risk factor for major disease pathologies. Progeroid diseases, which mimic aging at an accelerated rate, have provided cues in understanding the hallmarks of aging. Mutations in DNA
R. Shamanna+3 more
semanticscholar +1 more source
Herlyn-Werner-Wunderlich syndrome: A report of three cases in adolescents and adult woman
We report three cases with Herlyn-Werner-Wunderlich syndrome in adolescents and young female. The objective of this report was to describe the clinical presentation, ultrasound (US) and magnetic resonance imaging (MRI) findings of Herlyn-Werner ...
Quynh Vo Nhu, MD+2 more
doaj
Cerebral Haemorrhage in a Young Patient With Atypical Werner Syndrome Due to Mutations in LMNA
Introduction: Werner syndrome is a rare genetic disorder; classical Werner syndrome is caused by mutations in the WRN gene. However, recent research has shown that LMNA gene mutations can also cause premature ageing syndromes such as atypical Werner ...
Xiao Yanhua, Xiao Yanhua, Zhou Suxian
doaj +1 more source
Improvement of heart rate recovery after exercise training in older people. [PDF]
Twenty-four subjects aged 70 and older were retrospectively selected from our archives and screened for symptoms of cardiovascular disease. Baseline exercise test was negative for myocardial ischemia in all subjects.
De Lorenzo A.+6 more
core +1 more source
Regression, developmental trajectory and associated problems in disorders in the autism spectrum: the SNAP study [PDF]
We report rates of regression and associated findings in a population derived group of 255 children aged 9-14 years, participating in a prevalence study of autism spectrum disorders (ASD); 53 with narrowly defined autism, 105 with broader ASD and 97 with
A. LeCouteur+52 more
core +2 more sources
Lean ZSF1 rats in basic research on heart failure with preserved ejection fraction
Abstract Aims ZSF1 obese rats harbouring two mutant leptin receptor alleles (Leprcp and Leprfa) develop metabolic syndrome and heart failure with preserved ejection fraction (HFpEF), making them a widely used animal model in cardiometabolic research.
Petra Büttner+10 more
wiley +1 more source
Acute myocarditis according to age: Presentation, management and early outcomes
MIS, multisystem inflammatory syndrome; MRE, myocarditis‐related events (within 30 days included all‐cause death, cardiogenic shock, cardiac arrest, ventricular arrhythmias or complete AV block). Abstract Aims Acute myocarditis (AM) is a rare but severe disease affecting patients of all ages. Large multicentric studies comparing children and adults are
Clément Karsenty+25 more
wiley +1 more source
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.
The Werner syndrome (WS) is a prototypic adult Mendelian progeroid syndrome in which signs of premature aging are associated with genomic instability and an elevated risk of cancer.
Weiliang Tang+8 more
semanticscholar +1 more source
WRN mutations in Werner Syndrome [PDF]
Werner syndrome (WS) is one of a group of human genetic diseases that have recently been linked to deficits in cellular helicase function. We review the spectrum of WS-associated WRN mutations, the organization and potential functions of the WRN protein, and potential mechanistic links between the loss of WRN function and pathogenesis of the WS ...
Michael Moser+2 more
openaire +3 more sources