Varaico: Literature-Extracted Genetic Variants

Gene:KL
Variant:p.C370S
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KL

NM_004795.4:p.C370S

Associated Papers

The Spectrum of Genetic Risk in Alzheimer Disease.

Karagas N et al.

Neurology. Genetics, 2025

Association between Klotho levels in cerebrospinal fluid and choroid plexus enlargement in neurodegeneration.

Sacchi L et al.

Frontiers in Aging Neuroscience, 2025

Association of KLOTHO gene variants with metabolic and renal function parameters in Mexican patients living with type 2 diabetes.

Mendoza-Carrera F et al.

Journal of Diabetes and Metabolic Disorders, 2024

Genetic and therapeutic landscapes in cohort of pancreatic adenocarcinomas: next-generation sequencing and machine learning for full tumor exome analysis.

Shatalov PA et al.

Oncotarget, 2024

Involvement of Single Nucleotide Variants in the Klotho Gene Among Obesity Individuals with and without Type 2 Diabetes Mellitus in the Saudi Population.

Alageel AA et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024

Interaction between KLOTHO-VS Heterozygosity and APOE ε4 Allele Predicts Rate of Cognitive Decline in Late-Onset Alzheimer's Disease.

Chen XR et al.

Genes, 2023

Initial levels of β-amyloid and tau deposition have distinct effects on longitudinal tau accumulation in Alzheimer's disease.

Cai Y et al.

Alzheimer's Research & Therapy, 2023

No Evidence That Genetic Variation at the Klotho Locus Is Associated With Longevity in Caucasians from the Newcastle 85+ Study and the UK Biobank.

Amin HA et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2022

Leveraging large multi-center cohorts of Alzheimer disease endophenotypes to understand the role of Klotho heterozygosity on disease risk.

Ali M et al.

Plos One, 2022

Genetic Variants Associated With Resilience in Human and Animal Studies.

Cahill S et al.

Frontiers in Psychiatry, 2022

35669264 (PubMed )
Supplement: Table_1.xlsx › Human

An Integrated Analysis of Clinical, Genomic, and Imaging Features Reveals Predictors of Neurocognitive Outcomes in a Longitudinal Cohort of Pediatric Cancer Survivors, Enriched with CNS Tumors (Rad ART Pro).

Kline C et al.

Frontiers in Oncology, 2022

Circulating Klotho Is Higher in Cerebrospinal Fluid than Serum and Elevated Among KLOTHO Heterozygotes in a Cohort with Risk for Alzheimer's Disease.

Gaitán JM et al.

Journal of Alzheimer's Disease : Jad, 2022

Klotho KL-VS haplotype does not improve cognition in a population-based sample of adults age 55-87 years.

Müller BW et al.

Scientific Reports, 2021

Genetic signature of human longevity in PKC and NF-κB signaling.

Ryu S et al.

Aging Cell, 2021

KL-VS heterozygosity is associated with lower amyloid-dependent tau accumulation and memory impairment in Alzheimer's disease.

Neitzel J et al.

Nature Communications, 2021

Protective genes and pathways in Alzheimer's disease: moving towards precision interventions.

Seto M et al.

Molecular Neurodegeneration, 2021

Testing for Interactions Between APOE and Klotho Genotypes on Cognitive, Dementia, and Brain Imaging Metrics in UK Biobank.

Tank R et al.

Journal of Alzheimer's Disease : Jad, 2021

Reduced Plasma Levels of α-Klotho and Their Correlation With Klotho Polymorphisms in Elderly Patients With Major Depressive Disorders.

Gao X et al.

Frontiers in Psychiatry, 2021

Association of a single nucleotide polymorphism combination pattern of the Klotho gene with non-cardiovascular death in patients with chronic kidney disease.

Cambray S et al.

Clinical Kidney Journal, 2020

The association between Single Nucleotide Polymorphisms of Klotho Gene and Mortality in Elderly Men: The MrOS Sweden Study.

Wu PH et al.

Scientific Reports, 2020

KLOTHO polymorphisms and age-related outcomes in community-dwelling older subjects: The São Paulo Ageing & Health (SPAH) Study.

Pereira RMR et al.

Scientific Reports, 2020

Klotho and vitamin D in multiple sclerosis: an Italian study.

Scazzone C et al.

Archives of Medical Science : Ams, 2020

Review and meta-analysis of genetic polymorphisms associated with exceptional human longevity.

Revelas M et al.

Mechanisms of Ageing and Development, 2018

Circulating CD34+ and CD34+VEGFR2+ progenitor cells are associated with KLOTHO KL-VS polymorphism.

Skrzypkowska M et al.

Microvascular Research, 2018

The KL-VS polymorphism of KLOTHO gene is protective against retinopathy incidence in patients with type 1 diabetes.

Słomiński B et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

Correlation between KLOTHO gene and mild cognitive impairment in the Uygur and Han populations of Xinjiang.

Abulizi P et al.

Oncotarget, 2017

Longevity Klotho gene polymorphism and the risk of dementia in older men.

Almeida OP et al.

Maturitas, 2017

Systemic klotho is associated with KLOTHO variation and predicts intrinsic cortical connectivity in healthy human aging.

Yokoyama JS et al.

Brain Imaging and Behavior, 2017

Genetic Variants in KLOTHO Associate With Cognitive Function in the Oldest Old Group.

Mengel-From J et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2016

Influence of Klotho gene polymorphisms on vascular gene expression and its relationship to cardiovascular disease.

Donate-Correa J et al.

Journal of Cellular and Molecular Medicine, 2016

Protective alleles and modifier variants in human health and disease.

Harper AR et al.

Nature Reviews. Genetics, 2015

Significant roles of anti-aging protein klotho and fibroblast growth factor23 in cardiovascular disease.

Ding HY et al.

Journal of Geriatric Cardiology : Jgc, 2015

Molecular basis of Klotho: from gene to function in aging.

Xu Y et al.

Endocrine Reviews, 2015

Variation in longevity gene KLOTHO is associated with greater cortical volumes.

Yokoyama JS et al.

Annals of Clinical and Translational Neurology, 2015

Renal function and klotho gene polymorphisms among Uygur and Kazak populations in Xinjiang, China.

Xu X et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2015

N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.

Esapa CT et al.

Plos One, 2015

Is Klotho F352V Polymorphism the Missing Piece of the Bone Loss Puzzle in Renal Transplant Recipients?

Ozdem S et al.

Pharmacology, 2015

Association of Klotho and interleukin 6 gene polymorphisms with aging in Han Chinese population.

Zhang WG et al.

The Journal of Nutrition, Health & Aging, 2014

The association between KL polymorphism and prostate cancer risk in Korean patients.

Kim HJ et al.

Molecular Biology Reports, 2014

Biochemical and functional characterization of the klotho-VS polymorphism implicated in aging and disease risk.

Tucker Zhou TB et al.

The Journal of Biological Chemistry, 2013

IGF-1 and BRCA1 signalling pathways in familial cancer.

Werner H et al.

The Lancet. Oncology, 2012

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers.

Laitman Y et al.

Breast Cancer Research and Treatment, 2012

Klotho KL-VS genotype is involved in blood pressure regulation.

Nzietchueng R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Influence of Klotho genotypes on plasma NO(x) levels in South Indian population.

Majumdar V et al.

Thrombosis Research, 2011

Association of exonic variants of Klotho with metabolic syndrome in Asian Indians.

Majumdar V et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Assessment of matrix Gla protein, Klotho gene polymorphisms, and oxidative stress in chronic kidney disease.

Karsli Ceppioğlu S et al.

Renal Failure, 2011

Absence of kl-vs variant of klotho gene in Iranian cardiac patients (comparison to the world populations).

Tavakkoly-Bazzaz J et al.

Disease Markers, 2011

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Zhang G et al.

Human Mutation, 2010

21064102 (PubMed )
Supplement: supplement_1.pdf

Association of carotid atherosclerosis with genetic polymorphisms of the klotho gene in patients with hypertension.

Oguro R et al.

Geriatrics & Gerontology International, 2010

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