Teruhiko Yoshida

Studies of mice with a large deletion of the ARPKD-associated Pkhd1 locus likely explain its GWAS association with glaucoma in humans

The paper shows that a Pkhd1 deletion in mice causes glaucoma by disrupting Tfap2b expression, linking PKHD1 SNPs to human glaucoma.

Calcineurin inhibition deactivates pyruvate dehydrogenase and induces proximal tubule cell metabolic dysfunction, causing profibrotic phenotype

The paper shows that calcineurin inhibition deactivates pyruvate dehydrogenase, leading to proximal tubule cell metabolic dysfunction and kidney fibrosis.

Apolipoprotein-L1 G1 variant contributes to hydrocephalus but not to atherosclerosis in apolipoprotein-E knock-out mice

The paper investigates the role of APOL1 variants in cardiovascular and neurological diseases using mice, finding APOL1-G1 contributes to hydrocephalus but not atherosclerosis.

β-III tubulin identifies anti-fibrotic state of pericytes in pulmonary fibrosis

This study identifies β-III tubulin as a marker for anti-fibrotic pericytes in pulmonary fibrosis and shows that Tuj1-expressing pericytes release CXCL10 to inhibit pro-fibrotic macrophage differentiation.

NAD+ activates renal metabolism and protects from chronic kidney disease in a model of Alport syndrome

This study shows that NAD+ supplementation protects against CKD in Alport syndrome by restoring FAO in proximal tubule cells and reveals sex differences in transcriptional responses.

Preeclampsia in mice carrying fetuses with APOL1 risk variants

This study uses mouse models to show that fetal APOL1-G1 variants cause preeclampsia by inducing pro-inflammatory responses in placental and maternal monocyte cells.

Network-based pathogenicity prediction for variants of uncertain significance

This paper introduces PathoGN, a network-based method for predicting variant pathogenicity, which outperforms existing methods and identifies pathogenicity for 3,994 variants of uncertain significance.

Genome-wide association meta-analysis identifies novel GP2 gene risk variants for pancreatic cancer in the Japanese population