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.

Identification of aortic injury site using postmortem non-contrast computed tomography in road traffic accident.

In high-speed motor vehicle accidents, it is necessary to investigate the manner of death. Postmortem computed tomography (PMCT) provides important information on the mechanism of death, but identification of the aortic injury is still challenging on non-contrast PMCT. A man in his 50s had multiple injuries on the face and chest in the high-speed motor vehicle accident.

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.

Sensitivity and specificity of Cobas TaqMan MTB real-time polymerase chain reaction for culture-proven Mycobacterium tuberculosis: meta-analysis of 26999 specimens from 17 Studies.

Since 2010, studies on the diagnostic accuracy of COBAS TaqMan MTB (CTM) have been frequently reported with an unignorable discrepancy. The key inclusion criterion for this systematic review was original studies that could provide sufficient data for calculating the sensitivity and the specificity of CTM for M tuberculosis (TB) or M tuberculosis complex. The reference test was Mycobacterium culture.

Expression of HDAC9 in lung cancer--potential role in lung carcinogenesis.

Our previous studies identified important molecules involved in lung carcinogenesis through a comprehensive search for the downstream targets of oncogenic KRAS, and these findings suggested that an investigation into the downstream targets of oncogenic KRAS might represent a useful strategy for elucidating the common molecular bases of lung cancer. Among the downstream targets of oncogenic KRAS, a focus was placed on HDAC9, a member of the histone deacetylase family, in the present study because epigenetic modification of DNA or the histone proteins is known to play an important role in carcinogenesis. The immunohistochemical expression of HDAC9 was examined in surgically resected primary lung cancers (130 adenocarcinoma, 49 squamous cell carcinomas, one large cell carcinoma, and 6 small cell carcinomas) and potential associations between its expression level and pathologic factors were analyzed.

Downregulation of ALDH1A1 expression in non-small cell lung carcinomas--its clinicopathologic and biological significance.

ALDH1A1 metabolizes a variety of endogenous and exogenous aldehyde, and also oxidizes retinol to synthesize retinoic acid and modulate cell differentiation. Moreover, ALDH1A1 is also suggested to participate in the maintenance of cancer stem cells. To investigate the potential role of ALDH1A1 in carcinogenesis of the lung, the present study examined two hundred and sixty eight cases of non-small cell lung carcinoma (NSCLC) for its immunohistochemical expression and analyzed associations between ALDH1A1 levels and a series of clinicopathologic parameters.

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.