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GWAS

Tempo-Spatial Regulation of the Wnt Pathway by FAM13A Modulates the Stemness of Alveolar Epithelial Progenitors

[Ebiomedicine] Florescence-activated flow cytometry analysis, immunofluorescence and organoid culture system were performed to identify the β-catenin/Wnt-activated cells in Fam13a+/+ or Fam13a−/− mice exposed to CS.

Genetic Variation Associated with Thyroid Autoimmunity Shapes the Systemic Immune Response to PD-1 Checkpoint Blockade

[Nature Communications] The authors studied endocrine immune related adverse events from seven clinical trials across six cancers where atezolizumab was combined with chemotherapies and compared to standard of care.

Transcriptome-Wide Association Study Uncovers the Role of Essential Genes in Anthracycline-Induced Cardiotoxicity

[NPJ Genomic Medicine] Scientists identified a genetic association between decreased expression of GDF5 and anthracycline-induced cardiotoxicity, and found that cell viability of GDF5-silenced human cardiac myocytes was significantly decreased in response to anthracycline treatment.

Genetic Effects on Liver Chromatin Accessibility Identify Disease Regulatory Variants

[The American Journal of Human Genetics] Researchers mapped caQTLs in human liver tissue in 20 liver samples and identified 3,123 caQTLs.

Whole-Genome Sequencing Association Analysis of Quantitative Red Blood Cell Phenotypes: The NHLBI TOPMed Program

[American Journal of Human Genetics] Researchers discovered 14 single variant-red blood cell trait associations at 12 genomic loci, which have not been reported previously.

APOE2 Mitigates Disease-Related Phenotypes in an Isogenic hiPSC-Based Model of Alzheimer’s Disease

[Molecular Psychiatry] Investigators utilized an isogenic human induced pluripotent stem cell (hiPSC)-based system to demonstrate that conversion of APOE3 to APOE2 greatly reduced the production of amyloid-beta peptides in hiPSC-derived neural cultures.

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