Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing.

Background: Congenital anomalies (CAs) encompass a wide spectrum of structural and functional abnormalities during fetal development, commonly presenting at birth. Identifying the cause of CA is essential for accurate diagnosis and treatment. Using a target-gene approach, genetic variants could be found in certain CA patients.

Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies.

Background: Achieving a definitive genetic diagnosis of unexplained multiple congenital anomalies (MCAs) in neonatal intensive care units (NICUs) infants is challenging because of the limited diagnostic capabilities of conventional genetic tests. Although the implementation of whole genome sequencing (WGS) has commenced for diagnosing MCAs, due to constraints in resources and faculty, many NICUs continue to utilize chromosomal microarray (CMA) and/or karyotyping as the initial diagnostic approach. We aimed to evaluate the diagnostic efficacy of WGS in infants with MCAs who have received negative results from karyotyping and/or CMA.

Fire-Resistant and Thermal Stability Properties of Fluorosilicone Adhesives by Incorporation of Surface-Modified Aluminum Trihydrate.

Fluorosilicone was combined with aluminum trihydrate (ATH) to induce synergistic flame-retardant and thermal-resistant properties. The surface of ATH was modified with four different silane coupling agents. The flammability and mechanical properties of the fluorosilicone/ATH composites were assessed using an UL94 vertical test and a die shear strength test.

Forensic height estimation using polygenic score in Korean population.

Height is known to be a classically heritable trait controlled by complex polygenic factors. Numerous height-associated genetic variants across the genome have been identified so far. It is also a representative of externally visible characteristics (EVC) for predicting appearance in forensic science.

A genome-wide association scan reveals novel loci for facial traits of Koreans.

DNA-based prediction of externally visible characteristics (EVC) with SNPs is one of the research areas of interest in the forensic field. Based on a previous study performing GWAS on facial traits in a Korean population, herein, we present results stemming from GWA analysis with KoreanChip and novel genetic loci satisfying genome-wide significant level. We discovered a total of 20 signals and 12 loci were found to have novel associations with facial traits, including six loci located in intergenic regions and six loci located at UBE2O, HECTD2, CCDC108, TPK1, FCN2, and FRMPD1.

Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.

Exome and genome sequencing (ES/GS) in genetic medicine and research leads to discovering genomic secondary findings (SFs) unrelated to the purpose of the primary test. There is a lack of agreement to return the SF results for individuals undergoing the test. The aim of this study is to investigate the frequency of actionable secondary findings using GS data obtained from the rare disease study and the Korean Genome and Epidemiology Study (KoGES) in the National Project of Bio Big Data pilot study.

TLR3/TRIF pathway confers protection against herpes simplex encephalitis through NK cell activation mediated by a loop of type I IFN and IL-15 from epithelial and dendritic cells.

Autosomal recessive (AR) and dominant (AD) deficiencies of TLR3 and TRIF are believed to be crucial genetic causes of herpes simplex encephalitis (HSE), which is a fatal disease causing focal or global cerebral dysfunction following infection with herpes simplex virus type 1 (HSV-1). However, few studies have been conducted on the immunopathological networks of HSE in the context of TLR3 and TRIF defects at the cellular and molecular levels. In this work, we deciphered the crosstalk between type I IFN (IFN-I)-producing epithelial layer and IL-15-producing dendritic cells (DC) to activate NK cells for the protective role of TLR3/TRIF pathway in HSE progression after vaginal HSV-1 infection.

Molecular orientation-dependent energetic shifts in solution-processed non-fullerene acceptors and their impact on organic photovoltaic performance.

The non-fullerene acceptors (NFAs) employed in state-of-art organic photovoltaics (OPVs) often exhibit strong quadrupole moments which can strongly impact on material energetics. Herein, we show that changing the orientation of Y6, a prototypical NFA, from face-on to more edge-on by using different processing solvents causes a significant energetic shift of up to 210 meV. The impact of this energetic shift on OPV performance is investigated in both bilayer and bulk-heterojunction (BHJ) devices with PM6 polymer donor.

FGFRL1 and FGF genes are associated with height, hypertension, and osteoporosis.

Hypertension and osteoporosis are two major disorders, which interact with each other. Specific genetic signals involving the fibroblast growth factor receptor-like 1 (FGFRL1) gene are related to high blood pressure and bone growth in giraffes. FGFRL1 is associated with cardiovascular system and bone formation.

Forensic Analysis of Human Microbiome in Skin and Body Fluids Based on Geographic Location.

High-throughput DNA sequencing technologies have facilitated the forensic analysis of human microbiome. Specific microbial species or communities obtained from the crime scene provide evidence of human contacts and their body fluids. The microbial community is influenced by geographic, ethnic, lifestyle, and environmental factors such as urbanization.

A Genome-Wide Association Study of Novel Genetic Variants Associated With Anthropometric Traits in Koreans.

Most previous genome-wide association studies (GWAS) have identified genetic variants associated with anthropometric traits. However, most of the evidence were reported in European populations. Anthropometric traits such as height and body fat distribution are significantly affected by gender and genetic factors.

Structure-Activity Relationship of Phytoestrogen Analogs as ERα/β Agonists with Neuroprotective Activities.

A set of isoflavononid and flavonoid analogs was prepared and evaluated for estrogen receptor α (ERα) and ERβ transactivation and anti-neuroinflammatory activities. Structure-activity relationship (SAR) study of naturally occurring phytoestrogens, their metabolites, and related isoflavone analogs revealed the importance of the C-ring of isoflavonoids for ER activity and selectivity. Docking study suggested putative binding modes of daidzein 2 and dehydroequol 8 in the active site of ERα and ERβ, and provided an understanding of the promising activity and selectivity of dehydroequol 8.

Zerumbone Restores Gut Microbiota Composition in ETBF Colonized AOM/DSS Mice.

Colorectal cancer (CRC) is the leading cause of common malignant neoplasm worldwide. Many studies have analyzed compositions of gut microbiota associated with various diseases such as inflammatory bowel diseases (IBD) and colon cancer. One of the most representative bacteria involved in CRC is enterotoxigenic (ETBF), a species belonging to phylum Bacteroidetes.

The interaction between FTO rs9939609 and physical activity is associated with a 2-fold reduction in the risk of obesity in Korean population.

Objective: FTO (fat mass and obesity-associated) gene is a well-known genetic risk factor for obesity. We investigated whether physical activity modulates the effect of FTO rs9939609 on obesity in Korean population.

Methods: The study analyzed the correlation between physical activity and obesity in 8840 individuals representing the Korea Association Resource (KARE).

Functionalized PFN-X (X = Cl, Br, or I) for Balanced Charge Carriers of Highly Efficient Blue Light-Emitting Diodes.

All-inorganic perovskite nanocrystals (PeNCs), CsPbX (X = Cl, Br, or I), have been considered as one of the prospective emissive materials for display applications, which showed superior photoluminescence quantum yield and high color purity with narrow spectral line width. Recently, high-performance green and red perovskite light-emitting diodes (PeLEDs) were introduced; however, the efficiency of blue PeLEDs still lagged owing to PeNCs' deep HOMO energy level (∼6.0 eV), which is in discord with the adjacent organic interlayer.

Clinical study on screw loosening in dental implant prostheses: a 6-year retrospective study.

Objectives: In this study, we determined the incidence and pattern of screw loosening in patients who received dental implants.

Materials And Methods: Patients who received implants between January 2008 and October 2013 and completed their prosthetic rehabilitation were evaluated for the incidence, frequency, and onset of screw loosening using dental charts and radiographs. The association between each factor and screw loosening was analyzed using the chi-square test and a multivariate analysis with binary logistic regression models (<0.

Regio-regular alternating diketopyrrolopyrrole-based D-A-D-A terpolymers for the enhanced performance of polymer solar cells.

We designed and synthesized regio-regular alternating diketopyrrolopyrrole (DPP)-based D-A-D-A terpolymers (PDPPF2T2DPP-T2, PDPPF2T2DPP-TVT, and PDPPF2T2DPP-DTT) using a primary donor (D) [3,3'-difluoro-2,2'-bithiophene (F2T2)] and a secondary donor (D) [2,2'-bithiophene (T2), ()-1,2-di(thiophen-2-yl)ethene (TVT), or dithieno[3,2-:2',3'-]thiophene (DTT)]. A PDPP2DT-F2T2 D-A polymer was synthesized as well to compare optical, electronic, and photovoltaic properties. The absorption peaks of the terpolymers (PDPPF2T2DPP-T2, PDPPF2T2DPP-TVT, and PDPPF2T2DPP-DTT) were longer ( = 801-810 nm) than the peak of the PDPP2DT-F2T2 polymer ( = 799 nm), which is associated with the high-lying HOMO levels of the terpolymers (-5.