Varaico: Literature-Extracted Genetic Variants

Gene:CLEC7A
Variant:p.Y238*
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CLEC7A

NM_197947.3:p.Y238*

Associated Papers

A Functional Polymorphism in IL-36β Modulates Macrophage Antifungal Effector Functions and Increases Susceptibility to Invasive Pulmonary Aspergillosis.

Gonçalves SM et al.

The Journal of Infectious Diseases, 2025

Decoding Immunobiology Through Genetic Errors of Immunity.

Bender MJ et al.

Annual Review of Immunology, 2025

Role of TLR2 rs5743708 and dectin-1 rs16910526 polymorphisms in susceptibility to fungal infections in COVID-19 patients.

Mohammad KA et al.

Central-european Journal of Immunology, 2025

Genetic variants of dectin-1 and their antifungal immunity impact in hematologic malignancies: A comprehensive systematic review.

Aghaei M et al.

Current Research in Translational Medicine, 2024

Variants of human DECTIN-1 rs16910526 are linked to differential reactive oxygen species production and susceptibility to tuberculosis.

Cufré M et al.

Journal of Biomedical Science, 2024

Validating genetic variants in innate immunity linked to infectious events in acute myeloid leukemia post-induction chemotherapy.

Schnetzke U et al.

Genes and Immunity, 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

The Th17/IL-17 Axis and Host Defense Against Fungal Infections.

Tangye SG et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

Comprehensive In Silico Characterization of the Coding and Non-Coding SNPs in Human Dectin-1 Gene with the Potential of High-Risk Pathogenicity Associated with Fungal Infections.

Al-Nakhle HH et al.

Diagnostics (basel, Switzerland), 2023

Genome-Wide Association Study Reveals CLEC7A and PROM1 as Potential Regulators of Paracoccidioides brasiliensis-Induction of Cytokine Production in Peripheral Blood Mononuclear Cells.

de Figueiredo AMB et al.

Journal of Fungi (basel, Switzerland), 2023

Fungal sensing by dectin-1 directs the non-pathogenic polarization of TH17 cells through balanced type I IFN responses in human DCs.

Gringhuis SI et al.

Nature Immunology, 2022

Immunogenetics associated with severe coccidioidomycosis.

Hsu AP et al.

Jci Insight, 2022

Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis.

Drummond RA et al.

The Journal of Clinical Investigation, 2022

Understanding the genetic basis of immune responses to fungal infection.

Gonçalves SM et al.

Expert Review of Anti-infective Therapy, 2022

A Human Dectin-2 Deficiency Associated With Invasive Aspergillosis.

Griffiths JS et al.

The Journal of Infectious Diseases, 2021

A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Cochran M et al.

Molecular Genetics & Genomic Medicine, 2021

Genetic Predisposition and its Heredity in the Context of Increased Prevalence of Dermatophytoses.

Gnat S et al.

Mycopathologia, 2021

Retrospective analysis of the association of the expression and single nucleotide polymorphisms (SNPs) of the TLR4, PTX3 and Dectin-1 (CLEC/A) genes with development of invasive aspergillosis among haematopoietic stem cell transplant recipients with oncohaematological disorders.

Kalkanci A et al.

Mycoses, 2020

Polymorphisms within the ARNT2 and CX3CR1 Genes Are Associated with the Risk of Developing Invasive Aspergillosis.

Lupiañez CB et al.

Infection and Immunity, 2020

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

Merkhofer RM et al.

Frontiers in Cellular and Infection Microbiology, 2020

Chronic Mucocutaneous Candidiasis in Early Life: Insights Into Immune Mechanisms and Novel Targeted Therapies.

Shamriz O et al.

Frontiers in Immunology, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

Dectin-1 rs3901533 and rs7309123 Polymorphisms Increase Susceptibility to Pulmonary Invasive Fungal Disease in Patients with Acute Myeloid Leukemia from a Chinese Han Population.

Chen MJ et al.

Current Medical Science, 2019

Association between dectin-1 gene single nucleotide polymorphisms and fungal infection: a systemic review and meta-analysis.

Zhou P et al.

Bioscience Reports, 2019

Dectin-1 genetic deficiency predicts chronic lung allograft dysfunction and death.

Calabrese DR et al.

Jci Insight, 2019

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

Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.

Akdeniz D et al.

Molecular Genetics & Genomic Medicine, 2019

Tetraspanin CD82 Organizes Dectin-1 into Signaling Domains to Mediate Cellular Responses to Candida albicans.

Tam JM et al.

Journal of Immunology (baltimore, Md. : 1950), 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

Cellular metabolism constrains innate immune responses in early human ontogeny.

Kan B et al.

Nature Communications, 2018

Patient Susceptibility to Candidiasis-A Potential for Adjunctive Immunotherapy.

Davidson L et al.

Journal of Fungi (basel, Switzerland), 2018

A Comprehensive in Silico Analysis of Regulatory SNPs of Human CLEC7A Gene and Its Validation as Genotypic and Phenotypic Disease Marker in Recurrent Vulvovaginal Infections.

Kalia N et al.

Frontiers in Cellular and Infection Microbiology, 2018

Infection Complications in Hematopoietic Stem Cells Transplant Recipients: Do Genetics Really Matter?

Espinoza JL et al.

Frontiers in Microbiology, 2018

Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1.

Humbert L et al.

Frontiers in Immunology, 2018

Genetic susceptibility to severe asthma with fungal sensitization.

Overton NL et al.

International Journal of Immunogenetics, 2017

Isoform localization of Dectin-1 regulates the signaling quality of anti-fungal immunity.

Fischer M et al.

European Journal of Immunology, 2017

Primary immunodeficiencies suggest redundancy within the human immune system.

Fischer A et al.

Science Immunology, 2016

Is human Dectin-1 Y238X gene polymorphism related to susceptibility to recurrent vulvovaginal candidiasis?

Zahedi N et al.

Current Medical Mycology, 2016

Single nucleotide polymorphism in IL1B is associated with infection risk in paediatric acute myeloid leukaemia.

Sung L et al.

Clinical Microbiology and Infection : the Official Publication of the European Society of Clinical Microbiology and Infectious Diseases, 2016

Polymorphisms of the immune-modulating receptor dectin-1 in pigs: their functional influence and distribution in pig populations.

Shinkai H et al.

Immunogenetics, 2016

Premature termination codons in modern human genomes.

Fujikura K

Scientific Reports, 2016

26932450 (PubMed )
Supplement: srep22468-s1.pdf

Polymorphisms of Dectin-1 and TLR2 Predispose to Invasive Fungal Disease in Patients with Acute Myeloid Leukemia.

Fischer M et al.

Plos One, 2016

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Fujikura K

Plos One, 2016

27219052 (PubMed )
Supplement: pone.0155552.s003.pdf

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.

Gallo V et al.

Frontiers in Immunology, 2016

Polymorphisms in Host Immunity-Modulating Genes and Risk of Invasive Aspergillosis: Results from the AspBIOmics Consortium.

Lupiañez CB et al.

Infection and Immunity, 2015

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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."