Associated Papers
Bleomycin-induced lung fibrosis and dysfunction is exacerbated by G6PD deficiency.
Signoretti C et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2026
Lack of association between G6PD variants and Parkinson disease.
Chifamba LV et al.
Hgg Advances, 2026
Monogenic disorders of immunity: Common variants are not so rare.
Béziat V et al.
Cell Genomics, 2026
Hypomorphic ATP11c is a novel regulator of decreased efficacy of transfused red blood cells in humans and mice.
Zimring JC et al.
Hemasphere, 2026
No G6PD A- (G202A) variant detected among Plasmodium falciparum-positive patients in Awka, Southeast Nigeria: a hospital-based study.
Ikegbunam M et al.
Malariaworld Journal, 2026
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.
Tacoli C et al.
Scientific Reports, 2025
Amplicon-based DNA sequencing to characterize Duffy antigen polymorphisms and analysis of Duffy blood system and glucose-6-phosphate dehydrogenase deficiency in Mauritania.
Fontaine A et al.
Plos Neglected Tropical Diseases, 2025
Evidence for G6PD variant classification from multiplexed functional assays.
Geck RC et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic variation of human G6PD impacts Red Blood Cell transfusion efficacy.
Karafin MS et al.
Biorxiv : the Preprint Server for Biology, 2025
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.
Cope HL et al.
Nature Medicine, 2025
High prevalence of G6PD mutations in blood donors from the Brazilian Amazon region.
Silva JNV et al.
Blood Transfusion = Trasfusione Del Sangue, 2025
Severe Hemolytic Phenotype in Children With Sickle Cell Anemia and Co-Inherited Red Blood Cell Variants.
Srinivas M et al.
Pediatric Blood & Cancer, 2025
Human genetic variations conferring resistance to malaria.
Zhang X et al.
Journal of Translational Medicine, 2025
Caffeine impairs red blood cell storage quality by dual inhibition of ADORA2b signaling and G6PD activity.
Dzieciatkowska M et al.
Haematologica, 2025
Concurrent Case of Glucose-6-Phosphate Deficiency and Dehydrated Hereditary Stomatocytosis in a 4-Month-old Boy.
Nguyen TM et al.
Journal of Pediatric Hematology/oncology, 2025
Glucose-6-Phosphate Dehydrogenase Deficiency Is Associated With Increased Risk of Acute Kidney Injury Independent of Hemolytic Complications in Children With Severe Malaria.
Namazzi R et al.
The Journal of Infectious Diseases, 2025
Increased Exercise Tolerance in G6PD African Variant Mice Driven by Metabolic Adaptations and Erythrophagocytosis.
Cendali FI et al.
Antioxidants (basel, Switzerland), 2025
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A et al.
Hgg Advances, 2025
Rapid detection of G6PD deficiency SNPs using a novel amplicon-based MinION Sequencing Assay.
Tacoli C et al.
Biorxiv : the Preprint Server for Biology, 2025
Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety in Thailand.
Pengsuk N et al.
Pharmacology Research & Perspectives, 2025
Coinheritance of polymorphic alleles of PIEZO1, G6PD and HBB enhances protection against malaria.
Abad P et al.
One Health (amsterdam, Netherlands), 2025
Caffeine Impairs Red Blood Cell Storage Quality by Dual Inhibition of ADORA2b Signaling and G6PD Activity.
Dzieciatkowska M et al.
Biorxiv : the Preprint Server for Biology, 2025
Improved genetic screening with zygosity detection through multiplex high-resolution melting curve analysis and biochemical characterisation for G6PD deficiency.
Boonyuen U et al.
Tropical Medicine & International Health : Tm & Ih, 2025
Revised World Health Organization (WHO) classification of G6PD gene variants: Relevance to neonatal hyperbilirubinemia.
Watchko JF et al.
Seminars in Fetal & Neonatal Medicine, 2025
Enhancing NADPH to restore redox homeostasis and lysosomal function in G6PD-deficient microglia.
Mondal A et al.
Heliyon, 2025
G6PD deficiency triggers dopamine loss and the initiation of Parkinson's disease pathogenesis.
Stykel MG et al.
Cell Reports, 2025
Newborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.
El Janahi S et al.
International Journal of Neonatal Screening, 2024
Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.
Powell NR et al.
Genetics, 2024
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.
Fustino NJ et al.
Annals of African Medicine, 2024
Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review.
Iyer NS et al.
Molecular Genetics & Genomic Medicine, 2024
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Migliavacca MP et al.
American Journal of Medical Genetics. Part A, 2024
Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program.
Powell NR et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Kim J et al.
Bioinformatics (oxford, England), 2024
Uncovering an undisclosed diagnosis: a glucose-6-phosphate dehydrogenase deficiency diagnosis in a critically ill adult.
Kasturiarachi BM et al.
Ejhaem, 2024
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
Computational analysis of dimer G6PD structure to elucidate pathogenicity of G6PD variants.
Chandran S et al.
Biomedicine, 2024
Inheritance of Hb S and G6PD deficiency in a familiar group.
Domingos CB et al.
Archives of Medical Science : Ams, 2024
De Novo Variant in the RPL27 Gene in a Second Infant with Diamond-Blackfan Anemia.
Glass J et al.
Case Reports in Hematology, 2024
Potentially pathogenic and pathogenic G6PD variants.
Luzzatto L et al.
American Journal of Human Genetics, 2023
Disseminated Histoplasmosis in a Brazilian Patient with G6PD Deficiency Caused by Class I Variant.
Salgado RC et al.
Journal of Clinical Immunology, 2023