Aki Ushiki

Adeno-Associated Virus Co-Precipitation with Extracellular Vesicles for Genome Editing in Rodent Embryo

This paper describes a method to co-isolate AAV with extracellular vesicles for efficient genome editing in rodent embryos, achieving higher viability and targeting efficiency compared to traditional purification methods.

Functional characterization of bat limb regulatory elements

The paper identifies key regulatory elements in bat limb development by comparing bat and mouse genomic datasets and swapping enhancer sequences to observe phenotypic changes.

Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality

The paper identifies a female-biased tail abnormality caused by deletion of Pax1 regulatory elements in mice, linking it to estrogen signaling and AIS susceptibility.

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis

This study identifies a genetic variant in COL11A1 associated with adolescent idiopathic scoliosis and proposes a molecular model involving Pax1, Col11a1, and Mmp3 in spinal chondrocytes.

Integrative single-cell characterization of hypothalamus sex-differential and obesity-associated genes and regulatory elements

The paper integrates single-cell RNA and ATAC-seq data from mouse and human hypothalamus to identify sex-specific genes and obesity-associated regulatory elements.

ADGRG6 promotes adipogenesis and is involved in sex-specific fat distribution

This study identifies ADGRG6 as a gene involved in adipogenesis and sex-specific fat distribution, showing its potential as a therapeutic target for metabolic disease.

Genomic characterization of the adolescent idiopathic scoliosis associated transcriptome and regulome

This study identifies AIS-associated genes and regulatory elements through RNA-seq and ChIP-seq in human and mouse tissues, revealing pathways involved in chondrogenesis and connective tissue maintenance.

No evidence for transvection in vivo by a superenhancer:promoter pair integrated into identical open chromatin at the Rosa26 locus

The paper investigates whether a super-enhancer and promoter pair can function in trans to activate gene expression, finding no evidence of transvection in vivo.