نتایج جستجو برای: progeroid syndrome

تعداد نتایج: 622026  

2014
Jitendra Kumar Sinha Shampa Ghosh Manchala Raghunath

Progeria is characterized by clinical features that mimic premature ageing. Although the mutation responsible for this syndrome has been deciphered, the mechanism of its action remains elusive. Progeria research has gained momentum particularly in the last two decades because of the possibility of revealing evidences about the ageing process in normal and other pathophysiological conditions. Va...

Journal: :British Journal of Dermatology 2023

Abstract A 27-year-old woman of Pakistani heritage with a background type 2 diabetes, hypertension, hypothyroidism, infertility and Achilles tendinopathy was referred to the dermatology department for diffuse hair loss. She had greying scalp from age 20 years and, on examination, there were signs fragility thinning. Biopsies showed female pattern Topical minoxidil 5% twice daily advised. At con...

2008
Lynne S. Cox

The premature ageing Werner syndrome (WS) is characterized by the early onset of many age related phenotypes, including graying of hair, cataracts, atherosclerosis, cancer and type 2 diabetes. Type 2 diabetes (DM2) is the loss of blood glucose homeostastis, due to insulin resistance and a failure of acute glucose-stimulated insulin secretion (GSIS) by pancreatic cells. Early compensation for in...

Journal: :Endocrine Journal 2021

Werner syndrome, also called adult progeria, is a heritable autosomal recessive human disorder characterized by the premature onset of numerous age-related diseases including juvenile cataracts, dyslipidemia, diabetes mellitus (DM), osteoporosis, atherosclerosis, and cancer. syndrome segmental progeroid whose presentation resembles accelerated aging. The most common causes death for WS patients...

2016
Serafina Perrone Federica Lotti Ursula Geronzi Elisa Guidoni Mariangela Longini Giuseppe Buonocore

Oxidative stress is a distinctive sign in several genetic disorders characterized by cancer predisposition, such as Ataxia-Telangiectasia, Fanconi Anemia, Down syndrome, progeroid syndromes, Beckwith-Wiedemann syndrome, and Costello syndrome. Recent literature unveiled new molecular mechanisms linking oxidative stress to the pathogenesis of these conditions, with particular regard to mitochondr...

2017
Rafael R. Flores Cheryl L. Clauson Joonseok Cho Byeong‐Chel Lee Sara J. McGowan Darren J. Baker Laura J. Niedernhofer Paul D. Robbins

With aging, there is progressive loss of tissue homeostasis and functional reserve, leading to an impaired response to stress and an increased risk of morbidity and mortality. A key mediator of the cellular response to damage and stress is the transcription factor NF-κB. We demonstrated previously that NF-κB transcriptional activity is upregulated in tissues from both natural aged mice and in a...

2013
Behnud M. Djawadi René Fahr

The Impact of Risk Perception and Risk Attitudes on Corrupt Behavior: Evidence from a Petty Corruption Experiment We investigate one possible explanation for observed rates of corrupt behavior namely that individual decision makers who frequently engage in illegal actions may underestimate the overall probability of being caught. This might in particular be true for petty corruption where small...

Journal: :Nucleic Acids Research 2005
Jennifer A. Roberts Malcolm F. White

The XPF/Mus81 family of structure-specific nucleases cleaves branched or nicked DNA substrates and are implicated in a wide range of DNA repair and recombination processes. The structure of the crenarchaeal XPF bound to a DNA duplex has revealed a plausible mechanism for DNA binding, involving DNA distortion into upstream and downstream duplexes engaged by the two helix-hairpin-helix domains th...

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