EIF4A3-Driven Nonsense-Mediated Decay: A Novel Regulatory Axis Modulating AML1-ETO9a Dosage and Clinical Outcomes in t(8;21) Acute Myeloid Leukemia
Posted inHematology-Oncology news Oncology

EIF4A3-Driven Nonsense-Mediated Decay: A Novel Regulatory Axis Modulating AML1-ETO9a Dosage and Clinical Outcomes in t(8;21) Acute Myeloid Leukemia

This review highlights how EIF4A3-dependent nonsense-mediated mRNA decay selectively regulates the oncogenic AML1-ETO9a isoform in t(8;21) AML, influencing leukemic cell proliferation, chemosensitivity, and patient survival through an isoform-specific dosage checkpoint.
Beyond Haploinsufficiency: How Nonsense-Mediated Decay Escape Redefines MODY Diagnosis and Identifies Novel INS Variants
Posted inDiabetes & Endocrinology news

Beyond Haploinsufficiency: How Nonsense-Mediated Decay Escape Redefines MODY Diagnosis and Identifies Novel INS Variants

A systematic analysis reveals that the pathogenicity of loss-of-function variants in MODY genes is gene-specific and dependent on nonsense-mediated decay status. Crucially, NMD-escape variants in the INS gene represent a novel, clinically distinct cause of MODY, improving diagnostic precision for monogenic diabetes.