Few investigations into the nonverbal communication in ensemble playing have focused on gaze behaviour up to now. In this study, the gaze behaviour of musicians playing in trios was recorded using the recently developed technique of mobile eye-tracki...
Social housing provides a high level of enrichment for captive non-human primates, but providing this in research situations can be challenging. We have developed a multifactorial animal selection and introduction process coordinated by veterinary an...
Type 1 diabetes mellitus (T1DM) is a chronic autoimmune disease characterized by insulin deficiency and loss of pancreatic islet β-cells. The objective of this study is to identify de novo mutations in 13 trios from singleton families that contr...
The Fiducial Reference Measurements for Satellite Ocean Color (FRM4SOC) project has carried out a range of activities to evaluate and improve the state-of-the-art in ocean color radiometry. This paper described the results from a ship-based intercomp...
Background: This study aims to compare treatment time and patient satisfaction between digital and conventional impression techniques in single-tooth implant prosthetics. Materials and Methods: A controlled study was conducted on 22 patients with sin...
Genotype imputation has become an essential prerequisite when performing association analysis. It is a computational technique that allows us to infer genetic markers that have not been directly genotyped, thereby increasing statistical power in subs...
Nephrotic syndrome is a kidney disease featured by heavy proteinuria. It is caused by injury to the specialized epithelial cells called “podocytes” within the filtration unit of the kidney, glomerulus. Previous studies showed that hyperactivation of...
Background. Whole-genome sequencing (WGS) enables comprehensive detection of genetic variants but faces limitations in benchmarking due to incomplete reference datasets. Trio-based analysis, leveraging Mendelian inheritance, provides an alternative s...
A new quercetin derivative, 3,5-di(-O-acetyl)-3′,4′,7-tri[-O-(2-O-acetylethyl)]quercetin, was synthesized. The structure of the target compound was characterized by IR, 1H NMR, 13C NMR and MS.
To elucidate the wind-direction dependence of the rotor performance in closely spaced vertical-axis wind turbines, wind-tunnel experiments were performed at a uniform wind velocity. In the experiments, a pair/trio of three-dimensional printed model t...
This trio-based whole-genome sequencing (WGS) study enhances the accuracy of variant detection by leveraging parental genotypes, which facilitates the identification of de novo mutations and population-specific variants. Nonetheless, the comprehensiv...
Realizing the building of urban resilience and improving urban resilience has become important contents of urban development. In view of this phenomenon, relying on the framework of trio spaces, which includes physical space, societal space, and cybe...
Moebius syndrome (MBS) is a rare congenital disorder characterized by non-progressive facial palsy and ocular abduction paralysis. Most cases are sporadic, but also rare familial cases with autosomal dominant transmission and incomplete penetrance/va...
In 2011, the US Environmental Protection Agency’s (EPA) Office of Research and Development program, Sustainable and Healthy Communities, coined the term TRIO (Total Resources Impact Outcome) to represent approaches that fully incorporate all three pi...
Anorectal malformations (ARM) are individually common, but Congenital Pouch Colon (CPC) is a rare anorectal anomaly that causes a dilated pouch and communication with the genitourinary tract. In this work, we attempted to identify de novo heterozygou...
This paper introduces a Trio-PV monitor: a smart IoT-based instrument for the continuous and accurate monitoring of solar PV systems. The instrument is a synergistic combination of electronic hardware, desktop applications and a website. It has been...
Facility Management (FM) has increasingly focused on integrating Building Information Modeling (BIM) with the Internet of Things (IoT), known as digital twins, in large-scale development projects. Effective BIM integration in FM requires improved coo...
Surgical splints are widely used in orthognathic surgery. The fitting of a surgical splint affects the success of the surgery. Stereolithography (STL), the method used to achieve accurate and reliable input files, is important for the manufacturing p...
This study aimed to compare the impact of CAD/CAM closed systems and open systems on the marginal gap of monolithic zirconia-reinforced lithium silicate (ZLS) ceramic crowns, as both systems are used in everyday dentistry, both chair-side and laborat...
Background/Objectives: Orofacial clefts (OFCs) are among the most common birth defects globally, sometimes exacerbated by adverse drug reactions (ADRs) from corticosteroids and antiepileptics. Comprehending the pharmacogenomic and pharmacogenetic ele...
Skeletal dysplasia (SD) is a complex group of bone and cartilage disorders often detectable by fetal ultrasound, but the definitive diagnosis remains challenging because the phenotypes are highly variable and often overlap among different disorders....
Genetics intersects with environmental, cultural, and social factors in the development of addictive disorders. This study reports the feasibility of whole-exome sequencing of trios (subject and two family members) to discover potential genetic varia...
In the last few years, trio-Whole Exome Sequencing (WES) analysis has revolutionized the diagnostic process for patients with rare genetic syndromes, demonstrating its potential even in non-specific clinical pictures and in atypical presentations of...
Background: Intellectual disability with developmental delay is the most common developmental disorder. However, this diagnosis is rarely associated with congenital cardiomyopathy. In the current report, we present the case of a patient suffering fro...
Rho GDP dissociation inhibitor 2 (RhoGDI2), a regulator of Rho family GTPase, has been known to promote tumor growth and malignant progression in gastric cancer. We previously showed that RhoGDI2 positively regulates Rac1 activity and Rac1 activation...
Background: The reduction in next-generation sequencing (NGS) costs allows for using this method for newborn screening for monogenic diseases (MDs). In this report, we describe a clinical case of a newborn participating in the EXAMEN project (Clinica...
Background/Objectives: Cantú syndrome is a rare autosomal dominant genetic disorder caused by gain-of-function variants in the ABCC9 or KCNJ8 genes. Although its phenotypic expression is variable and can go unnoticed postnatally, certain ultra...
Background: Orofacial clefts (OFCs) are common congenital disabilities that can occur as isolated non-syndromic events or as part of Mendelian syndromes. OFC risk factors vary due to differences in regional environmental exposures, genetic variants,...
Despite the lifesaving medical discoveries of the last century, there is still an urgent need to improve the curative rate and reduce mortality in many fatal diseases such as cancer. One of the main requirements is to find new ways to deliver therape...
A sustainable world is one in which human needs are met equitably and without sacrificing the ability of future generations to meet their needs on environmental, economic, and social fronts. The United States (U.S.) Environmental Protection Agency’s...
Many cellular processes are controlled by small GTPases, which can be activated by guanine nucleotide exchange factors (GEFs). The RhoGEF Trio contains two GEF domains that differentially activate the small GTPases such as Rac1/RhoG and RhoA. These s...
Most genetic variants are rare and specific to the population, highlighting the importance of characterizing local population genetic diversity. Many countries have initiated population-based whole-genome sequencing (WGS) studies. Genomic variation w...
Congenital heart disease (CHD) is the most common congenital anomaly worldwide and poses significant diagnostic challenges due to its structural complexity and frequent association with extracardiac anomalies and genetic abnormalities. While conventi...
Protein model refinement a the crucial step in improving the quality of a predicted protein model. This study presents an NMR refinement protocol called TrioSA (torsion-angle and implicit-solvation-optimized simulated annealing) that improves the acc...
Fetal anomalies, characterized by structural or functional abnormalities occurring during intrauterine life, pose a significant medical challenge, with a notable prevalence, affecting approximately 2–3% of live births and 20% of spontaneous mis...
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic influences. There is an increasing demand for ASD genetic testing beyond the traditionally recommended microarray and syndromic autism testing; however, the current w...
15 February 2019
Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of common birth defects in China, with genetic and environmental components contributing to the etiology. Genome wide association studies (GWASs) have identified SPRY1 and SPRY2 to...
Schizophrenia (SZ) is a heterogeneous and debilitating psychiatric disorder with a strong genetic component. To elucidate functional networks perturbed in schizophrenia, we analysed a large dataset of whole-genome studies that identified SNVs, CNVs,...
No standard treatment has been established for most rare cancers. Here, we report a clinical trial of a biweekly WT1 tri-peptide-based vaccine for recurrent or advanced rare cancers. Due to the insufficient number of patients available for a traditio...
Background: The purpose of this in vitro study was to compare the implant axis’ spatial position and orientation by using laboratory scanner versus intra-oral scanner with three different scan abutments. Methods: A 3D model was printed with an intern...
Background and Clinical Significance: Methyltransferase-like protein 5 (METTL5) is a conserved RNA methyltransferase responsible for catalyzing the N6-methyladenosine (m6A) modification of 18S ribosomal RNA, a process critical for ribosome biogenesis...
Toscana virus (TOSV) can cause central nervous system infections in both residents of and travelers to Mediterranean countries. Data mining identified three real-time RT-qPCR assays for detecting TOSV RNA targeting non-overlapping regions in the nucl...
A field intercomparison was conducted at the Acqua Alta Oceanographic Tower (AAOT) in the northern Adriatic Sea, from 9 to 19 July 2018 to assess differences in the accuracy of in- and above-water radiometer measurements used for the validation of oc...
Interspecific hybridization often shows negative effects on hybrids. However, only a few multicellular species, limited to a handful of plants and animals, have shown partial genetic mechanisms by which hybridization leads to low fitness in hybrids....
Although guidelines exist for identifying mixtures, these measures often occur at the end-point of analysis and are protracted. To facilitate early mixture detection, we integrated a high-resolution melt (HRM) mixture screening assay into the qPCR st...
Autism spectrum disorder (ASD) is a common condition with lifelong implications. The last decade has seen dramatic improvements in DNA sequencing and related bioinformatics and databases. We analyzed the raw DNA sequencing files on the Variantyx®...
Background and Objectives: Knee osteoarthritis (OA) is a frequent cause of pain, functional limitations, and a common reason for surgical treatment, such as joint replacement. Conservative therapies can reduce pain and improve function; thus, delayin...
20 September 2022
Epilepsy is a chronic brain disorder, with anti-epileptic drugs (AEDs) providing relief from hyper-excitability of neurons, but largely failing to restrain neurodegeneration. We investigated a progressive preclinical trial in rats, whereby the test d...
Liver disease in pregnancy may present as an acute condition related to the gestational period, characterized by pruritus, jaundice, and abnormal liver function. The disease may be misdiagnosed with other liver diseases, some of which may have conseq...
Developmental delays (DD) and congenital anomalies (CA) are prevalent yet often remain undiagnosed despite comprehensive genetic testing. This study aims to investigate the diagnostic yield of trio whole-genome sequencing (WGS) in children presenting...
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