Genotype Value Decomposition: Simple Methods for the Computation of Kernel Statistics.

Recent advances in sequencing technologies enable genome-wide analyses for thousands of individuals. The sequential kernel association test (SKAT) is a widely used method to test for associations between a phenotype and a set of rare variants. As the sample size of human genetics studies increases, the computational time required to calculate a kernel is becoming more and more problematic.

Implications of thyroid transcription factor-1 gene methylation in carcinogenesis of interstitial pneumonia-related non-terminal respiratory unit lung adenocarcinoma.

The present study aimed to elucidate the mechanisms underlying the histogenesis of interstitial pneumonia (IP)-related lung adenocarcinoma (LADC). We focused on the methylation of thyroid transcription factor 1 (). The locus was highly methylated in IP-LADCs compared to non-IP-LADCs.

Exploratory investigation on antibodies to GluN1 and cognitive dysfunction in patients with chronic autoimmune psychosis.

Introduction: Mild cognitive dysfunction has been implicated in a number of psychiatric diseases and affects social functioning. Although clinical criteria were recently proposed for autoimmune psychosis (AP), biomarkers have not yet been established for the severity and prognosis of cognitive dysfunction. We herein investigated the relationships between 3 types of serum antibodies and cognitive dysfunction in chronic psychiatric patients suspected of AP.

variants in and cause neurodevelopmental disorders.

Objective: () and () isoforms of Calcium/calmodulin-dependent protein kinase II (CaMKII) play a pivotal role in neuronal plasticity and in learning and memory processes in the brain. Here, we explore the possible involvement of - and -CaMKII variants in neurodevelopmental disorders.

Methods: Whole-exome sequencing was performed for 976 individuals with intellectual disability, developmental delay, and epilepsy.

Spermatogonial stem cells and in vitro spermatogenesis.

Spermatogonial stem cells (SSCs) provide the basis for the life-long production of enormous numbers of sperm. The nature of these mysterious cells is being clarified. Although they were regarded to be mostly dormant, dividing rarely and remaining static in a niche, their rather dynamic behavior in the seminiferous tubules has been disclosed.

Caveolin gene transfer improves glucose metabolism in diabetic mice.

Caveolin, a member of the membrane-anchoring protein family, accumulates various growth receptors in caveolae and inhibits their function. Upregulation of caveolin attenuates cellular proliferation and growth. However, the role of caveolin in regulating insulin signals remains controversial.