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Methods: The liver sections of healthy controls, NAFL patients and NASH patients were measured by spatial transcriptomics, and integration analysis was performed with single-cell RNA-seq

Khaled Abd EA, Hanan N, Shwikar A, Ahmed E, Hany A, Doaa H

We observed 15 splicing changes induced by FUS/TLS knockdown and 8 changes induced by SMN knockdown in control fibroblasts that were also seen in M511Nfs*6 mutant cells (Fig

Funding This study was supported by the National Natural Science Foundation of China (82104534, 81903902) and the Sichuan Province Science Research Special Funding Project for Postdoctoral Fellows (2022BSH044)

Genotyping reaction was prepared in a 10 L reaction containing ~ 5 ng of gDNA, 250 nM K408R Genotyping Forward primer (5'- CCACCATTCTAAATCTACCTAACCTAATA-3' ), 250 nM K408R Genotyping Reverse primer (5'- GGATCGGGCAGTGGTTTTA-3' ), 125 nM wild type Locked Nucleic Acid (LNA) probe ( HEX-TCT + A + A + GT + CT + TCT + GGC-IowaBlack FQ), 125 nM K408R LNA probe ( FAM-TCT + A + G + GT + CT + T + CT-IowaBlack FQ), and 2X PerfeCTa qPCR Tough Mix (QuantaBio)

Other antibodies were found in 1 patient in the high anti-GAD65 concentration (anti-gamma-aminobutyric acid B receptor [GABAbR]) and 2 patients with low anti-GAD65 concentration (1 anti-GABAbR and 1 anti-GlyR)