Results 191 to 200 of about 20,035 (219)

Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome

Journal of the American Geriatrics Society, 2017
Objectives To determine recent trends in mutation patterns in the WRN gene, which cause Werner syndrome ( WS ), a rare, inheritable progeroid syndrome in ...
Masaya, Yamaga, Minoru, Takemoto, Aki, Takada-Watanabe, Naoko, Koizumi, Takumi, Kitamoto, Kenichi, Sakamoto, Takahiro, Ishikawa, Masaya, Koshizaka, Yoshiro, Maezawa, Koutaro, Yokote   +9 more
openaire   +2 more sources

The Werner syndrome gene product (WRN): a repressor of hypoxia-inducible factor-1 activity

Experimental Cell Research, 2012
Werner syndrome (WS) is a rare autosomal disease characterized by the premature onset of several age-associated pathologies. The protein defective in WS patients (WRN) is a helicase/exonuclease involved in DNA repair, replication, transcription and telomere maintenance.
Adam, Labbé, Véronique N, Lafleur, David A, Patten, Geneviève A, Robitaille, Chantal, Garand, Laurent, Lamalice, Michel, Lebel, Darren E, Richard   +7 more
openaire   +2 more sources

A novel mutation of the WRN gene in a Chinese patient with Werner syndrome

Clinical and Experimental Dermatology, 2008
Werner syndrome (WS) is an autosomal recessive inherited disease characterized by features of premature ageing. It is caused by mutations of the WRN gene encoding a protein with both exonuclease and helicase activities. The aim of this study was to identify gene mutations in a Chinese patient with WS.
N, Zhao, F, Hao, T, Qu, Y-G, Zuo, B-X, Wang   +4 more
openaire   +2 more sources

[WRN gene].

Nihon rinsho. Japanese journal of clinical medicine, 2009
Werner's syndrome is a typical progeroid syndrome with many specific features of aging early in life. Clinical features of Werner's syndrome closely resemble accelerated aging, such as cataract, scleroderma skin, diabetes and tumorigenesis. The causative gene of this syndrome is denoted as WRN, which encodes a homolog of the E.
Tomohiro, Katsuya, Ryuichi, Morishita
openaire   +1 more source

A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease

American Journal of Medical Genetics Part A, 2022
AbstractInterstitial lung disease (ILD) is a condition affecting the lung parenchyma by inflammation and fibrosis and can be caused by various exposures, connective tissue diseases (CTD), and genetic disorders. In this report, a family with five patients having progressive respiratory failure that begins with coughing in adolescence, followed by ...
Abdullah Sezer, Gulsum Kayhan, Tugba Ramasli Gursoy, Tugba Sismanlar Eyuboglu, Ferda E. Percin   +4 more
openaire   +3 more sources

WRN gene and other genetic factors affecting immortalization of human B-lymphoblastoid cell lines transformed by Epstein-Barr virus

Cancer Genetics and Cytogenetics, 2004
The immortalization of human B-lymphoblastoid cell lines (LCL) transformed by Epstein-Barr virus (EBV) is accompanied by two major events: increase in telomerase activity and change in karyotype from normal diploid to aneuploidy. We investigated the effect of genetic factors on the incidence of immortalization by putting old and new data together to ...
Masanobu, Sugimoto, Hidetoshi, Tahara, Minoru, Okubo, Tetsuro, Kobayashi, Makoto, Goto, Toshinori, Ide, Yasuhiro, Furuichi   +6 more
openaire   +2 more sources

Preferential Expression of an Intact WRN Gene in Werner Syndrome Cell Lines in Which a Normal Chromosome 8 Has Been Introduced

Biochemical and Biophysical Research Communications, 2001
Werner syndrome (WS) is a premature aging syndrome caused by mutations in the WRN gene. All mutations of the WRN gene reported thus far are predicted to produce the truncated WRN proteins. The mRNAs that contain chain-termination mutations are supposed to be unstable due to degradation by nonsense-mediated mRNA decay (NMD).
G, Kashino, S, Kodama, K, Suzuki, M, Oshimura, M, Watanabe   +4 more
openaire   +2 more sources

Molecular Mechanisms of Proliferative Senescence and Genomic Instability in Werner Syndrome and the WRN Gene Network

Cytogenetic and Genome Research
Background: Ageing is a general, intrinsic, and progressively deleterious process that affects all cells, tissues, and organs albeit at different extent and rate in each individual. The complexity and universality of its phenotypic manifestations suggest a multifactorial origin.
openaire   +1 more source

Progeroid syndrome caused by a defect in the WRN gene. Description of a clinical case in a teenager

Pharmateca, 2021
E.Yu. Smirnova Smirnova, Yu.L. Skorodok Skorodok, M.E. Turkunova Turkunova, V.V. Platonov – Platonov, N.V. Kazachenko Kazachenko   +4 more
openaire   +1 more source

Repeat expansions confer WRN dependence in microsatellite-unstable cancers

Nature, 2020
Niek van Wietmarschen, Sriram Sridharan, William J Nathan   +2 more
exaly