Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.K1046_G1047Splc
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WRN

NM_000553.6:p.K1046_G1047Splc

Associated Papers

Efficacy and safety of SGLT2 inhibitor on insulin resistance and hyperglycemia in Werner syndrome-A case report.

Yagi T et al.

Journal of Diabetes Investigation, 2026

Prevalence of germline pathogenic variants in cancer predisposition genes in the Japanese population.

Yamaguchi T et al.

Japanese Journal of Clinical Oncology, 2025

41342546 (PubMed )
Supplement: table_s3_hyaf181.xlsx › Supplemental_Table_3

The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.

Margariti A et al.

Life (basel, Switzerland), 2025

A case of rapid-progressing liver cirrhosis complicated by Werner syndrome.

Miyajima S et al.

Clinical Journal of Gastroenterology, 2025

A Rare Cause of Acute Pancreatitis: Two Siblings With Werner Syndrome.

Sakar K et al.

Jcem Case Reports, 2025

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Sex differences in symptom presentation and their impact on diagnostic accuracy in Werner syndrome.

Kaneko H et al.

Geriatrics & Gerontology International, 2024

Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN.

Druta JP et al.

Acta Medica Lituanic, 2024

Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.

Balinisteanu I et al.

Biomedicines, 2023

Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.

Suzuki Y et al.

Genes, 2023

36833371 (PubMed )
Supplement: genes-14-00443-s001.zip › genes-2152850-supplementary.xlsx › Table_S7

Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.

Alba-Pavón P et al.

Cancers, 2022

Optical coherence tomography findings in three patients with Werner syndrome.

Nagai T et al.

Bmc Ophthalmology, 2022

Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.

Miller DE et al.

Journal of Medical Genetics, 2022

Werner syndrome presenting as early-onset diabetes: A case report.

Wang X et al.

Journal of Diabetes Investigation, 2022

Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.

Cameselle-Teijeiro JM et al.

Endocrine Pathology, 2021

WRN Germline Mutation Is the Likely Inherited Etiology of Various Cancer Types in One Iranian Family.

Norouzi M et al.

Frontiers in Oncology, 2021

Evaluation of glucose tolerance and effect of dietary management on increased visceral fat in a patient with Werner syndrome.

Yamamoto R et al.

Endocrine Journal, 2020

NAD+ augmentation restores mitophagy and limits accelerated aging in Werner syndrome.

Fang EF et al.

Nature Communications, 2019

31754102 (PubMed )
Supplement: 41467_2019_13172_MOESM1_ESM.pdf

Characteristic Clinical Features of Werner Syndrome with a Novel Compound Heterozygous WRN Mutation c.1720+1G>A Plus c.3139-1G>C.

Matsumoto N et al.

Internal Medicine (tokyo, Japan), 2019

Werner's Syndrome: Understanding the Phenotype of Premature Aging-First Case Described in Colombia.

Rincón A et al.

Case Reports in Genetics, 2019

Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients.

Maezawa Y et al.

Molecular Syndromology, 2018

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM et al.

The Lancet. Oncology, 2018

29753700 (PubMed )
Supplement: mmc1.pdf

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

Yamaga M et al.

Journal of the American Geriatrics Society, 2017

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

Yokote K et al.

Human Mutation, 2017

Werner syndrome through the lens of tissue and tumour genomics.

Tokita M et al.

Scientific Reports, 2016

WRN protein as a novel erythroblast immunohistochemical marker with applications for the diagnosis of Werner syndrome.

Sadahira Y et al.

Virchows Archiv : an International Journal of Pathology, 2015

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Endocrine and metabolic abnormalities in a girl with childhood Werner syndrome: case report.

Toda N et al.

Journal of the American Geriatrics Society, 2014

Reprogramming suppresses premature senescence phenotypes of Werner syndrome cells and maintains chromosomal stability over long-term culture.

Shimamoto A et al.

Plos One, 2014

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry.

Saha B et al.

Molecular Genetics & Genomic Medicine, 2013

The epidemiology of premature aging and associated comorbidities.

Coppedè F

Clinical Interventions in Aging, 2013

Clinical utility gene card for: Werner syndrome.

Hisama FM et al.

European Journal of Human Genetics : Ejhg, 2012

A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology.

Takada-Watanabe A et al.

Geriatrics & Gerontology International, 2012

Primary liver tumor associated with Werner syndrome (adult progeria).

Okano H et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2011

Werner syndrome as a hereditary risk factor for exocrine pancreatic cancer: potential role of WRN in pancreatic tumorigenesis and patient-tailored therapy.

Chun SG et al.

Cancer Biology & Therapy, 2010

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

Friedrich K et al.

Human Genetics, 2010

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis.

Muftuoglu M et al.

Human Genetics, 2008

The spectrum of WRN mutations in Werner syndrome patients.

Huang S et al.

Human Mutation, 2006

WRN, the protein deficient in Werner syndrome, plays a critical structural role in optimizing DNA repair.

Chen L et al.

Aging Cell, 2003

WRN helicase expression in Werner syndrome cell lines.

Moser MJ et al.

Nucleic Acids Research, 2000

WRN mutations in Werner syndrome.

Moser MJ et al.

Human Mutation, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."