Werner Syndrome

Werner syndrome is a rare inherited disorder that causes features of accelerated aging, making it an important model for studying genome stability and human aging. Most cases result from mutations in the WRN gene, which encodes a DNA helicase and exonuclease involved in DNA replication, repair, recombination, and telomere maintenance. Impaired WRN protein function promotes genomic instability and cellular senescence, contributing to growth changes, premature graying, skin abnormalities, cataracts, diabetes, and increased risk of certain cancers. In biology, Werner syndrome research helps clarify how DNA damage and defective repair pathways influence aging, disease development, and potential therapeutic strategies.

Werner Syndrome - Related Videos

Research

JoVE Journal - Behavior

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome

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Cited by 5 •

2016

An EEG experimental protocol is designed to clarify the interplay between conscious and non-conscious representations of emotional faces in patients with Asperger's syndrome. The technique suggests that patients with Asperger's syndrome have deficits in non-conscious representation of emotional faces, but have comparable performance in conscious representation with healthy controls.

Robotic-assisted Left Pneumonectomy For Vanishing Lung Syndrome

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2026

Robotic-assisted pneumonectomy is safe and effective in the management of Vanishing Lung Syndrome, with reduced morbidity and faster recovery times.

Boldness, Aggression, and Shoaling Assays for Zebrafish Behavioral Syndromes

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Cited by 18 •

2016

This manuscript describes the setup, implementation, and analysis of boldness, aggression, and shoaling in zebrafish and testing for the presence of a behavioral syndrome. A standardized approach for behavioral quantification will allow for easier comparison across studies. Modifications to this protocol are possible as each assay can be run individually.

Robot Strong Procedure for Superior Mesenteric Artery (Wilkie) Syndrome

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2026

This protocol demonstrates the key technical steps of a Robot Strong procedure in a patient suspected of superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome.

Education

JoVE Core - Pathophysiology

Cushing Syndrome I: Introduction

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2026

Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...

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