2023-05-19

Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma

Background Birt-Hogg-Dubé (BHD) syndrome, caused by germline alteration of folliculin (FLCN) gene, develops hybrid oncocytic/chromophobe tumour (HOCT) and chromophobe renal cell carcinoma (ChRCC), whereas sporadic ChRCC does not harbor FLCN alteration. To date, molecular characteristics of these similar histological types of tumours have been incompletely elucidated.
2023-05-17

Dynamics of AMPA receptors regulate epileptogenesis in patients with epilepsy

The excitatory glutamate α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs) contribute to epileptogenesis. Thirty patients with epilepsy and 31 healthy controls are scanned using positron emission tomography with our recently developed radiotracer for AMPARs, [11C]K-2, which measures the density of cell-surface AMPARs.
2023-05-17

New Study Shows Key Role of Synaptic Plasticity in Modulating Brain Function in Patients with Epilepsy

Using a newly developed radiotracer, researchers find that Hebbian and homeostatic plasticity differentially regulate brain function in epilepsy
2023-04-19

Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans

Tandem repeats (TRs) are one of the largest sources of polymorphism, and their length is associated with gene regulation. Although previous studies reported several tandem repeats regulating gene splicing in cis (spl-TRs), no large-scale study has been conducted. In this study, we established a genome-wide catalog of 9537 spl-TRs with a total of 58,290 significant TR–splicing associations across 49 tissues (false discovery rate 5%) by using Genotype-Tissue expression (GTex) Project data.