Jae‐Jin Song

Reactive Astrocytes Drive Extracellular Acidification to Mediate α-Synuclein Neurodegeneration

This study identifies a mechanism by which reactive astrocytes drive neurodegeneration in synucleinopathies through extracellular acidification and neuronal ASIC1a activation.

Comprehensive Genetic Profiling of Sensorineural Hearing Loss Using an Integrative Diagnostic Approach

This study uses whole-genome sequencing and functional assays to improve genetic diagnosis of sensorineural hearing loss, achieving a 55.6% diagnostic yield through comprehensive genomic profiling.

PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation

This study uses base editing to correct a mutation causing hearing loss in a humanized mouse model, restoring hearing function and gene expression.

CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency

The paper develops CRISPR-based strategies to correct a complex genomic rearrangement in EYA1 linked to haploinsufficiency, showing successful gene expression restoration in patient-derived cells.

Adenine base editing corrects point mutation in mitochondrial single-stranded binding protein (SSBP1) to improve mitochondrial function

This study corrects a SSBP1 mutation using adenine base editors, improving mitochondrial function but with trade-offs between editing efficacy and off-target risks.

The semantic segmentation approach for normal and pathologic tympanic membrane using deep learning

This paper develops a deep learning model using Mask R-CNN to segment tympanic membrane structures in endoscopic images, achieving high accuracy in detection and segmentation.