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Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1

This study identifies molecular pathogenesis in the kidney of myotonic dystrophy type 1 (DM1). The authors reveal downregulated metabolism genes in urinary extracellular vesicles (EVs) and kidney tissue, with elevated urine metabolites, suggesting urinary EVs as indicators of renal and metabolic disturbance.

Preeti Kumari
Lauren M. Sullivan
Thurman M. Wheeler
ResearchOpen Access05 Mar 2025
Nature Communications

Volume: 16, P: 1-18
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p

Common polygenic variation at chromosome 16p and rare recurrent deletions of 16p11.2 influencing autism risk are associated with reduced expression of genes throughout the 16p region, suggesting functional convergence of rare and common variant effects.

Daniel J. Weiner
Emi Ling
Elise B. Robinson
ResearchOpen Access24 Oct 2022
Nature Genetics

Volume: 54, P: 1630-1639
Dysregulation of DNA Repair Pathways in a Transforming Growth Factor α/c-myc Transgenic Mouse Model of Accelerated Hepatocarcinogenesis

Koji Hironaka
Valentina M Factor
Snorri S Thorgeirsson
Research01 May 2003
Laboratory Investigation

Volume: 83, P: 643-654

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