Mayana Zatz

This study compares 3D skeletal muscle spheroids (iSMS) with 2D cultures for modeling Duchenne Muscular Dystrophy, finding improved PAX7 expression and altered Notch signaling in iSMS.

This study shows that FOXM1 inhibition promotes terminal differentiation of human iPSC-derived hepatocytes by enhancing polyploidization and metabolic maturation through the Wnt/β-catenin pathway.

This study investigates the immunogenic response of paediatric brain tumour cells to oncolytic Zika virus infection using multiomics approaches, identifying TNF-alpha as a key mediator of oncolytic efficacy and immune activation.

This study shows that VAPB P56S mutation causes mitochondrial dysfunction and enhances the integrated stress response, leading to motor neuron disease in ALS.

This study shows that IFNγ treatment reduces apoptosis and improves translation rates in ALS6 patient-derived motor neurons under oxidative stress.

The paper evaluates HLA imputation accuracy in admixed populations using dimension reduction, finding that custom reference panels outperform standard ones for specific genetic models.

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

This study evaluates the transferability of a breast cancer polygenic risk score in two Brazilian admixed cohorts compared to UK Biobank data, finding inflated PRS distributions and equivalent predictive power in case-control comparisons.

The paper examines how global and local ancestry influence the association between APOE ε4 and Alzheimer's neuropathology and cognitive outcomes in an admixed Brazilian cohort.

This study presents a high-coverage whole-genome sequencing dataset of 1,171 admixed elderly Brazilians, identifying novel variants and demonstrating the utility of WGS for genomic and clinical research in underrepresented populations.

This study characterizes metabolic alterations in iPSC-derived astrocytes from MS patients, identifying mitochondrial dysfunction and distinct metabolic profiles linked to disease mechanisms.

The paper identifies genetic variants associated with resistance to SARS-CoV-2 infection by analyzing discordant Brazilian couples.

The paper investigates genetic variation in 27 candidate genes and HLA alleles in 954 admixed Brazilian exomes, identifying common and rare variants potentially influencing SARS-CoV-2 infection and response.

The paper identifies a West African-associated regulatory variant with a strong female-specific effect on BMI and fat mass in Brazilian admixed populations.

The paper analyzes structural variation in the glycophorin gene cluster across 6466 genomes, identifies 15 known and 9 new variants, and links structural variants to recombination hotspots.