Shiyu Luo

Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases

The paper identifies unique signatures of highly constrained genes using gnomAD and explores their association with human disease and molecular pathways.

The Solute Carrier Family 26 Member 9 Is a Modifier of the Rapidly Progressing Cystic Fibrosis Associated with F508del CFTR Mutations

The paper identifies SLC26A9 variants as modifier genes associated with rapidly progressing cystic fibrosis in patients with deltaF508 homozygous CFTR mutations.

Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion

This study investigates the effects of HBS1L deficiency on retinal dystrophy, showing proteomic changes and photoreceptor cell loss in both human and mouse models.

Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex

This paper investigates the role of SPEG in skeletal muscle biology using multi-omics approaches, revealing its interaction with the myospryn complex and its impact on mitochondrial function and calcium signaling.

Heteroplasmy variability in individuals with biparentally inherited mitochondrial DNA

The paper examines heteroplasmy variability in individuals with biparental mitochondrial DNA inheritance, finding significant inter-tissue and single-cell differences in paternal mtDNA transmission.

No evidence for intermolecular recombination in human fibroblast and blood mtDNA from individuals with biparental mtDNA transmission

The paper analyzes mtDNA from individuals with biparental transmission and finds no evidence of intermolecular recombination, supporting strict maternal inheritance.