Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.G574R
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WRN

NM_000553.6:p.G574R

Associated Papers

Response to Replication Stress and Maintenance of Genome Stability by WRN, the Werner Syndrome Protein.

Orren DK et al.

International Journal of Molecular Sciences, 2024

Studying Werner syndrome to elucidate mechanisms and therapeutics of human aging and age-related diseases.

Lautrup S et al.

Biogerontology, 2019

Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients.

Maezawa Y et al.

Molecular Syndromology, 2018

A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.

Wu PF et al.

Molecular Medicine Reports, 2017

Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.

Oshima J et al.

Ageing Research Reviews, 2017

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Yokote K et al.

Human Mutation, 2017

Implementation of personalized medicine for fracture risk assessment in osteoporosis.

Mori S et al.

Geriatrics & Gerontology International, 2016

A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese population.

Zhou H et al.

Journal of Bone and Mineral Metabolism, 2015

Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.

Oshima J et al.

Gerontology, 2014

Jejunal Cancer with WRN Mutation Identified from Next-Generation Sequencing: A Case Study and Minireview.

Chang C et al.

Case Reports in Surgery, 2014

Catalytic activities of Werner protein are affected by adduction with 4-hydroxy-2-nonenal.

Czerwińska J et al.

Nucleic Acids Research, 2014

Functional deficit associated with a missense Werner syndrome mutation.

Tadokoro T et al.

Dna Repair, 2013

DNA helicases associated with genetic instability, cancer, and aging.

Suhasini AN et al.

Advances in Experimental Medicine and Biology, 2013

Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology.

Monnat RJ

Seminars in Cancer Biology, 2010

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Friedrich K et al.

Human Genetics, 2010

Disease-causing missense mutations in human DNA helicase disorders.

Suhasini AN et al.

Mutation Research, 0

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