The mitochondrial m.3243A>G variant is known to cause retinal dystrophy and vision loss. We used single cell RNA sequencing to understand how the presence of this mutation affects cellular phenotype i
Purpose: We constructed and characterized knockout and conditional knockout mice for KCNJ13, encoding the inwardly rectifying K+ channel of the Kir superfamily Kir7.1, mutations in which cause both Sn
Gene expression profile of coding and non-coding RNA in IBM muscles. Overall design: Comparison of transcriptome profile of muscle biopsies of patients with Inclusion body Myositis and controls with T
