Varaico: Literature-Extracted Genetic Variants

Gene:TLR1
Variant:p.N248S
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TLR1

NM_003263.4:p.N248S

Associated Papers

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

Family-based genetics identifies association of CUBN, IL1RL1 and PRKN variants with leprosy in Bangladesh.

Dos Santos AM et al.

Scientific Reports, 2025

Influence of polymorphisms on the phenotype of TLR1, TLR4 and TLR9 genes and their association with cervical cancer: Bioinformatics prediction analysis and a case-control study.

Moura EL et al.

Cancer Genetics, 2024

Polymorphism in the leucine-rich repeats of TLR7 in different breeds of chicken and in silico analysis of its effect on TLR7 structure and function.

Kaliappan A et al.

Gene, 2024

SCGB1D2 inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease.

Strausz S et al.

Nature Communications, 2024

Genome-wide association study in Estonia reveals importance of vaginal epithelium associated genes in case of recurrent vaginitis.

Mutli E et al.

Journal of Reproductive Immunology, 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Bioinformatics analysis to identify the relationship between human papillomavirus-associated cervical cancer, toll-like receptors and exomes: A genetic epidemiology study.

Gomes FC et al.

Plos One, 2024

39208235 (PubMed )
Supplement: pone.0305760.s001.xlsx › Supplement_4_-_Genetic_variants

Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.

Tan IL et al.

Cell Reports, 2023

37917583 (PubMed )
Supplement: NIHMS1948186-supplement-2.xlsx › All-Pat-ClinVar_Coding

Genetic Susceptibility to Fungal Infections.

Yazdi M et al.

Advanced Biomedical Research, 2023

Toll-like receptor 2 (-196 to -174) del and TLR1 743 A > G gene polymorphism-a possible association with drug-resistant tuberculosis in the north Indian population.

Varshney D et al.

Frontiers in Microbiology, 2023

Exome variants associated with asthma and allergy.

Wjst M

Scientific Reports, 2022

36470944 (PubMed )
Supplement: 41598_2022_24960_MOESM1_ESM.pdf

Systematic review and meta-analysis of human Toll-like receptors genetic polymorphisms for susceptibility to tuberculosis infection.

Varshney D et al.

Cytokine, 2022

Genetic polymorphisms of toll-like receptors in leprosy patients from southern Brazil.

Masin PS et al.

Frontiers in Genetics, 2022

Deep resequencing identifies candidate functional genes in leprosy GWAS loci.

Fava VM et al.

Plos Neglected Tropical Diseases, 2021

34879060 (PubMed )
Supplement: pntd.0010029.s004.xlsx › S2_Table

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.

Monticelli M et al.

European Journal of Medical Genetics, 2021

33872774 (PubMed )
Supplement: mmc2.xlsx › Foglio1

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s007.xlsx › Sheet1

A Novel Mutation in the IL6R Gene Identified in a Family with Asthma Patients.

Trueb B et al.

Genetic Testing and Molecular Biomarkers, 2020

Age-of-onset information helps identify 76 genetic variants associated with allergic disease.

Ferreira MAR et al.

Plos Genetics, 2020

32603359 (PubMed )
Supplement: pgen.1008725.s024.xls › Supp_Table_11

Lesion size is associated with genetic polymorphisms in TLR1, TLR6, and TIRAP genes in patients with major abscesses and diabetic foot infections.

D'Onofrio V et al.

European Journal of Clinical Microbiology & Infectious Diseases : Official Publication of the European Society of Clinical Microbiology, 2020

Advances in Understanding Human Genetic Variations That Influence Innate Immunity to Fungi.

Merkhofer RM et al.

Frontiers in Cellular and Infection Microbiology, 2020

Single Nucleotide Polymorphisms in TLR4 Affect Susceptibility to Tuberculosis in Mexican Population from the State of Veracruz.

Ortega E et al.

Journal of Immunology Research, 2020

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001

Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.

Fava VM et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

31308240 (PubMed )
Supplement: pnas.1901805116.sapp.pdf

Toll-like receptor polymorphism in host immune response to infectious diseases: A review.

Mukherjee S et al.

Scandinavian Journal of Immunology, 2019

Pattern recognition receptor polymorphisms in early periodontitis.

Leite FRM et al.

Journal of Periodontology, 2019

Polymorphism in Toll-Like Receptors and Helicobacter Pylori Motility in Autoimmune Atrophic Gastritis and Gastric Cancer.

De Re V et al.

Cancers, 2019

Genetic defects in fungal recognition and susceptibility to invasive pulmonary aspergillosis.

Cunha C et al.

Medical Mycology, 2019

Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Lu H et al.

Critical Care (london, England), 2019

30683156 (PubMed )
Supplement: 13054_2019_2313_MOESM3_ESM.docx

Human Genetic Variation and HIV/AIDS in Papua New Guinea: Time to Connect the Dots.

Mehlotra RK

Current Hiv/aids Reports, 2018

Whole genome sequencing and bioinformatics analysis of two Egyptian genomes.

ElHefnawi M et al.

Gene, 2018

Association of Toll like receptor 2 and 9 gene variants with pulmonary tuberculosis: exploration in a northern Indian population.

Mittal M et al.

Molecular Biology Reports, 2018

A pleiotropic effect of the APOE gene: association of APOE polymorphisms with multibacillary leprosy in Han Chinese from Southwest China.

Wang D et al.

The British Journal of Dermatology, 2018

Meat and fiber intake and interaction with pattern recognition receptors (TLR1, TLR2, TLR4, and TLR10) in relation to colorectal cancer in a Danish prospective, case-cohort study.

Kopp TI et al.

The American Journal of Clinical Nutrition, 2018

Toll-like receptor variants and cervical Atopobium vaginae infection in women with pelvic inflammatory disease.

Taylor BD et al.

American Journal of Reproductive Immunology (new York, N.y. : 1989), 2018

Genetic Susceptibility to Leprosy-From Classic Immune-Related Candidate Genes to Hypothesis-Free, Whole Genome Approaches.

Cambri G et al.

Frontiers in Immunology, 2018

Toll-Interleukin 1 Receptor Domain-Containing Adaptor Protein 180L Single-Nucleotide Polymorphism Is Associated With Susceptibility to Recurrent Pneumococcal Lower Respiratory Tract Infections in Children.

Siebert JN et al.

Frontiers in Immunology, 2018

The TLR1 gene is associated with higher protection from leprosy in women.

Alvarenga Niitsuma EN et al.

Plos One, 2018

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

Ferreira MA et al.

Nature Genetics, 2017

29083406 (PubMed )
Supplement: NIHMS74439-supplement-Supplementary_tables.xlsx › ST12

Lessons from ten years of genome-wide association studies of asthma.

Vicente CT et al.

Clinical & Translational Immunology, 2017

29333270 (PubMed )
Supplement: cti201754x1.zip › CTI-17-REV-0041V1-s01.xls › Supplementary_Table_6

Evaluation of Toll-like-receptor gene family variants as prognostic biomarkers in rheumatoid arthritis.

Torices S et al.

Immunology Letters, 2017

Exome sequencing deciphers a germline MET mutation in familial epidermal growth factor receptor-mutant lung cancer.

Tode N et al.

Cancer Science, 2017

28294470 (PubMed )
Supplement: CAS-108-1263-s001.pdf
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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."