Yonsei University

About: Yonsei University is a education organization based out in Seoul, South Korea. It is known for research contribution in the topics: Population & Cancer. The organization has 50162 authors who have published 106172 publications receiving 2279044 citations. The organization is also known as: Yonsei.

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

Abstract: Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the cerebral cortex characterized by dysmorphic neurons, dyslamination and medically refractory epilepsy. It has been hypothesized that FCD is caused by somatic mutations in affected regions. Here, we used deep whole-exome sequencing (read depth, 412-668×) validated by site-specific amplicon sequencing (100-347,499×) in paired brain-blood DNA from four subjects with FCDII and uncovered a de novo brain somatic mutation, mechanistic target of rapamycin (MTOR) c.7280T>C (p.Leu2427Pro) in two subjects. Deep sequencing of the MTOR gene in an additional 73 subjects with FCDII using hybrid capture and PCR amplicon sequencing identified eight different somatic missense mutations found in multiple brain tissue samples of ten subjects. The identified mutations accounted for 15.6% of all subjects with FCDII studied (12 of 77). The identified mutations induced the hyperactivation of mTOR kinase. Focal cortical expression of mutant MTOR by in utero electroporation in mice was sufficient to disrupt neuronal migration and cause spontaneous seizures and cytomegalic neurons. Inhibition of mTOR with rapamycin suppressed cytomegalic neurons and epileptic seizures. This study provides, to our knowledge, the first evidence that brain somatic activating mutations in MTOR cause FCD and identifies mTOR as a treatment target for intractable epilepsy in FCD.

Testing the 8-syndrome structure of the child behavior checklist in 30 societies

Abstract: There is a growing need for multicultural collaboration in child mental health services, training, and research. To facilitate such collaboration, this study tested the 8-syndrome structure of the Child Behavior Checklist (CBCL) in 30 societies. Parents' CBCL ratings of 58,051 6- to 18-year-olds were subjected to confirmatory factor analyses, which were conducted separately for each society. Societies represented Asia; Africa; Australia; the Caribbean; Eastern, Western, Southern, and Northern Europe; the Middle East; and North America. Fit indices strongly supported the correlated 8-syndrome structure in each of 30 societies. The results support use of the syndromes in diverse societies.

What Is Moving in Hybrid Halide Perovskite Solar Cells

Abstract: ConspectusOrganic–inorganic semiconductors, which adopt the perovskite crystal structure, have perturbed the landscape of contemporary photovoltaics research. High-efficiency solar cells can be produced with solution-processed active layers. The materials are earth abundant, and the simple processing required suggests that high-throughput and low-cost manufacture at scale should be possible.While these materials bear considerable similarity to traditional inorganic semiconductors, there are notable differences in their optoelectronic behavior. A key distinction of these materials is that they are physically soft, leading to considerable thermally activated motion.In this Account, we discuss the internal motion of methylammonium lead iodide (CH3NH3PbI3) and formamidinium lead iodide ([CH(NH2)2]PbI3), covering: (i) molecular rotation-libration in the cuboctahedral cavity; (ii) drift and diffusion of large electron and hole polarons; (iii) transport of charged ionic defects. These processes give rise to a ra...

The Asian pacific association for the study of the liver clinical practice guidelines for the diagnosis and management of metabolic associated fatty liver disease

Abstract: Metabolic associated fatty liver disease (MAFLD) is the principal worldwide cause of liver disease and affects nearly a quarter of the global population. The objective of this work was to present the clinical practice guidelines of the Asian Pacific Association for the Study of the Liver (APASL) on MAFLD. The guidelines cover various aspects of MAFLD including its epidemiology, diagnosis, screening, assessment, and treatment. The document is intended for practical use and for setting the stage for advancing clinical practice, knowledge, and research of MAFLD in adults, with specific reference to special groups as necessary. The guidelines also seek to improve patient care and awareness of the disease and assist stakeholders in the decision-making process by providing evidence-based data. The guidelines take into consideration the burden of clinical management for the healthcare sector.