Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.R154S
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APOE

NM_000041.4:p.R154S

Associated Papers

Sterile innate immune mechanisms in neurodegenerative diseases.

Ealy A et al.

The Journal of Biological Chemistry, 2026

Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.

Acosta-Uribe J et al.

Npj Dementia, 2026

Integrative bioinformatics analysis of APOE variants in Alzheimer's disease and clinical therapeutics.

Srivastava K et al.

Journal of Biomolecular Structure & Dynamics, 2025

Molecular dynamics of select missense mutations of Apolipoprotein E and their implications in Hyperlipoproteinemia type III.

Thakur S et al.

Biochemistry and Biophysics Reports, 2025

Association of rare APOE missense variants with Alzheimer's disease in the Japanese population.

Miyashita A et al.

Journal of Alzheimer's Disease : Jad, 2025

Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project.

Wang D et al.

Journal of Alzheimer's Disease : Jad, 2025

Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2025

Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.

Palao B et al.

Frontiers in Genetics, 2025

Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia.

Blokhina AV et al.

International Journal of Molecular Sciences, 2024

Tau processing and tau-mediated inflammation differ in human APOEε2 and APOEε4 astrocytes.

Mothes T et al.

Iscience, 2024

Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP).

Wang D et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Single-nucleus RNA sequencing demonstrates an autosomal dominant Alzheimer's disease profile and possible mechanisms of disease protection.

Almeida MC et al.

Neuron, 2024

Seq-ing mechanisms behind types of Alzheimer's disease.

Chen Y et al.

Neuron, 2024

The current state of apolipoprotein E in dyslipidemia.

Rasmussen KL et al.

Current Opinion in Lipidology, 2024

Corrigendum to "APOE gene variants in primary dyslipidemia" [Atherosclerosis (2021 Jul) 328 11-22].

Abou Khalil Y et al.

Atherosclerosis, 2023

Characterization of APOE Christchurch carriers in 455,306 UK Biobank participants.

He KY et al.

Molecular Neurodegeneration, 2023

APOE and vascular disease: Sequencing and genotyping in general population cohorts.

Rasmussen KL et al.

Atherosclerosis, 2023

Search Strategies for Alzheimer Protector Genes.

Kosik KS

Annals of Neurology, 2023

Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.

Cochran JN et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023

Contribution of APOE Genetic Variants to Dyslipidemia.

Bea AM et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

Apolipoprotein E (APOE) Haplotypes in Healthy Subjects from Worldwide Macroareas: A Population Genetics Perspective for Cardiovascular Disease, Neurodegeneration, and Dementia.

Abondio P et al.

Current Issues in Molecular Biology, 2023

37185708 (PubMed )
Supplement: cimb-45-00184-s001.zip › cimb-2284441-supplementary › CIMB_APOE_supplementary.xlsx › Supplementary_Table_S1

Genetics of Alzheimer's disease: an East Asian perspective.

Miyashita A et al.

Journal of Human Genetics, 2023

Brain radiotoxicity-related 15CAcBRT gene expression signature predicts survival prognosis of glioblastoma patients.

Reyes-González J et al.

Neuro-oncology, 2023

35802478 (PubMed )
Supplement: noac171_suppl_suplementary_table_s7.xlsx › Table_S7

Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.

Heidemann BE et al.

Clinical Genetics, 2022

35781703 (PubMed )
Supplement: CGE-102-253-s001.docx

Heterozygous APOE Christchurch in familial Alzheimer's disease without mutations in other Mendelian genes.

Hernandez I et al.

Neuropathology and Applied Neurobiology, 2021

How understudied populations have contributed to our understanding of Alzheimer's disease genetics.

Dehghani N et al.

Brain : a Journal of Neurology, 2021

APOE and dementia - resequencing and genotyping in 105,597 individuals.

Rasmussen KL et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020

APOE-amyloid interaction: Therapeutic targets.

Wisniewski T et al.

Neurobiology of Disease, 2020

Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.

Sanderson SC et al.

European Journal of Human Genetics : Ejhg, 2017

Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene.

Leren TP et al.

Molecular Genetics and Metabolism Reports, 2016

Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain.

Lamiquiz-Moneo I et al.

Lipids in Health and Disease, 2016

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.

Masoodi TA et al.

Neurology Research International, 2012

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII

Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.

Civeira F et al.

Journal of the American College of Cardiology, 2008

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