Varaico: Literature-Extracted Genetic Variants

Gene:MBL2
Variant:p.R52C
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MBL2

NM_001378373.1:p.R52C

Associated Papers

MBL2 deficiency and IgA Nephropathy in transplant patients: Is complement inhibition always beneficial?

Stea ED et al.

European Journal of Internal Medicine, 2026

Association of MBL2 gene polymorphisms with type 2 diabetes and its complications in Moroccan population.

El Alami H et al.

Nucleosides, Nucleotides & Nucleic Acids, 2026

Absence of evidence to diagnose lectin pathway deficiencies with a monogenic inborn error of immunity.

García-Soidán A et al.

The Journal of Allergy and Clinical Immunology, 2025

Examining patient-specific responses to PARP inhibitors in a novel, human induced pluripotent stem cell-based model of breast cancer.

Weddle CJ et al.

Npj Precision Oncology, 2025

40000798 (PubMed )
Supplement: 41698_2025_837_MOESM3_ESM.xlsx › BC8-1

Sickle Cell Anemia and Inflammation: A Review of Stones and Landmarks Paving the Road in the Last 25 Years.

Dorneles J et al.

Hematology Reports, 2025

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Genetic causes of primary immunodeficiency in the Jordanian population.

Obeidat L et al.

Biomedical Reports, 2024

Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.

Kovanda A et al.

International Journal of Molecular Sciences, 2024

Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India.

Aaron R et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2024

Deciphering the host genetic factors conferring susceptibility to severe COVID-19 using exome sequencing.

Uslu K et al.

Genes and Immunity, 2024

High production MBL2 polymorphisms protect against COVID-19 complications in critically ill patients: A retrospective cohort study.

de Andrade LV et al.

Heliyon, 2024

Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.

Buianova A et al.

Plos One, 2024

39423205 (PubMed )
Supplement: pone.0312335.s008.xlsx › Pathogenic_Fam_A__references_

Clinical associations of complement-activating collectins, collectin-10, collectin-11 and mannose-binding lectin in preterm neonates.

Gajek G et al.

Frontiers in Immunology, 2024

MBL2 gene variants and susceptibility to meningitis in Egyptian patients.

Sokkar MF et al.

Gene, 2023

Association between mannose binding lectin gene polymorphisms and clinical severity of COVID-19 in children.

Yilmaz D et al.

Molecular Biology Reports, 2023

A narrative review of precision medicine in neonatal sepsis: genetic and epigenetic factors associated with disease susceptibility.

Dai W et al.

Translational Pediatrics, 2023

FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.

Mortensen Ó et al.

European Journal of Human Genetics : Ejhg, 2023

Gene polymorphisms and serum levels of mannose-binding lectin in Czech patients with recurrent aphthous stomatitis: A case-control study.

Izakovicova P et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2023

Targeted Genotyping of MIS-C Patients Reveals a Potential Alternative Pathway Mediated Complement Dysregulation during COVID-19 Infection.

Gavriilaki E et al.

Current Issues in Molecular Biology, 2022

RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas

Zhao L et al.

Genes, 2022

35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S2.The_information_of_annotated_gene_mutations2.xlsx › ___

An overview of human proteins and genes involved in SARS-CoV-2 infection.

Jahanafrooz Z et al.

Gene, 2022

Identification of candidate genes in a family with cancer overload by whole-exome sequencing.

Ödemiş DA et al.

The Turkish Journal of Pediatrics, 2022

Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

Butnariu LI et al.

Journal of Clinical Medicine, 2021

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

A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations.

Mrazkova J et al.

Diagnostics (basel, Switzerland), 2021

The Role of Mannose-binding Lectin in Infectious Complications of Pediatric Hemato-Oncologic Diseases.

Dobi M et al.

The Pediatric Infectious Disease Journal, 2021

Genetic Association With Pseudomonas aeruginosa Acquisition in Cystic Fibrosis: Influence of Surfactant Protein D and Mannose-Binding Lectin.

Nourkami-Tutdibi N et al.

Frontiers in Immunology, 2021

Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg.

Alves-Leon SV et al.

Frontiers in Genetics, 2021

Pattern Recognition Molecules of Lectin Complement Pathway in Ischemic Stroke.

Tsakanova G et al.

Pharmacogenomics and Personalized Medicine, 2021

Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.

Noel DD et al.

Bioinformatics and Biology Insights, 2021

Functional prediction and comparative population analysis of variants in genes for proteases and innate immunity related to SARS-CoV-2 infection.

Klaassen K et al.

Infection, Genetics and Evolution : Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases, 2020

Association of MBL-2 gene polymorphisms with systemic lupus erythematosus: an updated meta-analysis and trial sequential analysis.

Mahto H et al.

Lupus, 2020

Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.

Wilk MA et al.

Cold Spring Harbor Molecular Case Studies, 2020

Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case-control study in Congolese children.

Bodi JM et al.

Malaria Journal, 2020

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases

Association of MBL2 Exon 1 Polymorphisms With Multibacillary Leprosy.

Tiyo BT et al.

Frontiers in Immunology, 2020

Hepatitis B Virus Infection Among Leprosy Patients: A Case for Polymorphisms Compromising Activation of the Lectin Pathway and Complement Receptors.

Boldt ABW et al.

Frontiers in Immunology, 2020

33643280 (PubMed )
Supplement: Table_2.docx

Herpes simplex encephalitis in adult patients with MASP-2 deficiency.

Bibert S et al.

Plos Pathogens, 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

Host genetic variability and pneumococcal disease: a systematic review and meta-analysis.

Kloek AT et al.

Bmc Medical Genomics, 2019

31519222 (PubMed )
Supplement: 12920_2019_572_MOESM2_ESM.pdf

Genetic Polymorphism of MBL 2 in Patients with Allergic Bronchial Asthma.

Borta S et al.

Maedica, 2019

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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."