Varaico: Literature-Extracted Genetic Variants

Gene:CX3CR1
Variant:p.V249I
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CX3CR1

NM_001337.4:p.V249I

Associated Papers

Role of Common Fractalkine Receptor Variants with Chronic Hepatitis B Patients in Tunisia.

Ben Dhifallah I et al.

Viruses, 2025

Human induced pluripotent stem cell-derived microglia with a CX3CR1-V249I genetic variant exhibit dysfunctional phenotypes and modulate neuronal growth and function.

Tutrow KD et al.

Biorxiv : the Preprint Server for Biology, 2025

Genetic factors associated with age-related macular degeneration modulating plasma inflammatory biomarker levels in patients with AIDS.

Sezgin E et al.

Ophthalmic Genetics, 2024

MTHFR gene polymorphisms and susceptibility to myocardial infarction: Evidence from meta-analysis and trial sequential analysis.

Samii A et al.

International Journal of Cardiology. Heart & Vasculature, 2023

Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.

Jiang Y et al.

Nature Communications, 2022

36418292 (PubMed )
Supplement: 41467_2022_34689_MOESM4_ESM.zip › Supplementary_Data › Supplementary_Data_5.xlsx › Sheet1

CX3CR1 deficiency aggravates amyloid driven neuronal pathology and cognitive decline in Alzheimer's disease.

Puntambekar SS et al.

Molecular Neurodegeneration, 2022

Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.

Su WM et al.

Bmc Medicine, 2022

Effect of CX3CL1/CX3CR1 gene polymorphisms on the clinical efficacy of carboplatin therapy in Han patients with ovarian cancer.

Wang XC et al.

Frontiers in Genetics, 2022

An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients.

Li J et al.

Iscience, 2021

34746695 (PubMed )
Supplement: mmc4.xlsx › Sheet1

Association of CX3CR1 Gene Polymorphisms with Fractalkine, Fractalkine Receptor, and C-Reactive Protein Levels in Patients with Kidney Failure.

Woźny Ł et al.

International Journal of Environmental Research and Public Health, 2021

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

CX3CR1 at V249M and T280M Gene Polymorphism and Its Potential Risk for End-Stage Renal Diseases in Egyptian Patients.

Ibrahim AF et al.

International Journal of Nephrology, 2021

Role of CX3CR1 signaling in malignant transformation of gliomas.

Lee S et al.

Neuro-oncology, 2020

Genetic Analysis of Patients With Sickle Cell Anemia and Stroke Before 4 Years of Age Suggest an Important Role for Apoliprotein E.

Brewin JN et al.

Circulation. Genomic and Precision Medicine, 2020

Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Montazeri Z et al.

Gut, 2020

31818908 (PubMed )
Supplement: gutjnl-2019-319313supp002.pdf

Functional fine-mapping of noncoding risk variants in amyotrophic lateral sclerosis utilizing convolutional neural network.

Yousefian-Jazi A et al.

Scientific Reports, 2020

[Input of genetic analyses in the differential diagnosis of kidney cysts].

Ghuysen C et al.

Revue Medicale De Liege, 2019

New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosis.

Pampalakis G et al.

Human Mutation, 2019

CX3CR1-deficient microglia shows impaired signalling of the transcription factor NRF2: Implications in tauopathies.

Castro-Sánchez S et al.

Redox Biology, 2019

Cx3cr1-deficiency exacerbates alpha-synuclein-A53T induced neuroinflammation and neurodegeneration in a mouse model of Parkinson's disease.

Castro-Sánchez S et al.

Glia, 2018

Genetic susceptibility to delayed graft function following kidney transplantation: a systematic review of the literature.

Huart J et al.

Clinical Kidney Journal, 2018

Polymorphisms in the microglial marker molecule CX3CR1 affect the blood volume of the human brain.

Sakai M et al.

Psychiatry and Clinical Neurosciences, 2018

The Role of the Microglial Cx3cr1 Pathway in the Postnatal Maturation of Retinal Photoreceptors.

Jobling AI et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2018

Polymorphisms in Selected Genes and Their Association with Age-Related Macular Degeneration in a Chinese Population.

Huang Q et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2018

Association of the CX3CR1-V249I Variant with Neurofibrillary Pathology Progression in Late-Onset Alzheimer's Disease.

López-López A et al.

Molecular Neurobiology, 2018

Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study.

Calvo A et al.

Muscle & Nerve, 2018

Role of the Fractalkine Receptor in CNS Autoimmune Inflammation: New Approach Utilizing a Mouse Model Expressing the Human CX3CR1I249/M280 Variant.

Cardona SM et al.

Frontiers in Cellular Neuroscience, 2018

The NOD2-Smoking Interaction in Crohn's Disease is likely Specific to the 1007fs Mutation and may be Explained by Age at Diagnosis: A Meta-Analysis and Case-Only Study.

Kuenzig ME et al.

Ebiomedicine, 2017

28668336 (PubMed )
Supplement: mmc1.docx

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Lonjou C et al.

Bmc Cancer, 2017

28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls

CX3CR1 polymorphisms associated with an increased risk of developmental dysplasia of the hip in human.

Li L et al.

Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society, 2017

Associations of fractalkine receptor (CX3CR1) and CCR5 gene variants with hypertension, diabetes and atherosclerosis in chronic renal failure patients undergoing hemodialysis.

Bagci B et al.

International Urology and Nephrology, 2016

Common and Rare Genetic Variation in CCR2, CCR5, or CX3CR1 and Risk of Atherosclerotic Coronary Heart Disease and Glucometabolic Traits.

Golbus JR et al.

Circulation. Cardiovascular Genetics, 2016

Association of CX3CR1 (V249I and T280M) polymorphisms with age-related macular degeneration: a meta-analysis.

Li D et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2015

Associations Between the T280M and V249I SNPs in CX3CR1 and the Risk of Age-Related Macular Degeneration.

Zhang R et al.

Investigative Ophthalmology & Visual Science, 2015

Association between the CX3CR1 gene V249I polymorphism and delayed kidney allograft function.

Dabrowska-Zamojcin E et al.

Transplant Immunology, 2015

Fractalkine receptor polymorphism may not be associated with the development and clinical course of ulcerative colitis.

Gokcan H et al.

Bosnian Journal of Basic Medical Sciences, 2015

CX3CR1 polymorphisms and the risk of age-related macular degeneration.

Ma B et al.

International Journal of Clinical and Experimental Pathology, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06P-01A.domain

Association of chemokine receptor gene variants with HIV-1 genotype predicted tropism.

Parczewski M et al.

Hiv Medicine, 2014

CCR2, CX3CR1, RANTES and SDF1 genetic polymorphisms influence HIV infection in a Zimbabwean pediatric population.

Mhandire K et al.

Journal of Infection in Developing Countries, 2014

Maternal genotype and severe preeclampsia: a HuGE review.

Fong FM et al.

American Journal of Epidemiology, 2014

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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."