Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report pathogenic variants in the core protein-folding machinery TRiC/CCT in individuals with brain malformations, intellectual disability, and seizures.
View Article and Find Full Text PDFAutophagy is important for many physiological processes; and disordered autophagy can contribute to the pathogenesis of a broad range of systemic disorders. is a useful model organism for studying the genetics of autophagy, however, current methods for studying autophagy are labor-intensive and not readily amenable to high-throughput procedures. Here we describe a fluorescent reporter, GFP::LGG-1::mKate2, which is useful for monitoring autophagic flux in live animals.
View Article and Find Full Text PDFClemastine is an antagonist of histamine H1 receptor may provide benefits in the treatment of osteosarcoma (OS). In the current study, we used hyperthermia approach to sensitize OS cells to clemastine-mediated cell death. Osteosarcoma U-2 OS and Saos-2 cells were treated with clemastine at 37°C, followed by 42°C for 2 h, and released at 37°C for 6 h.
View Article and Find Full Text PDFObjective: The purpose of this study was to identify factors associated with twin pregnancy following day 3 double embryo transfer (DET).
Methods: This retrospective cohort study incorporated data from 16,972 day 3 DET cycles. The participants were women aged between 18 and 45 years who underwent in vitro fertilization with intracytoplasmic sperm injection (IVF/ICSI) at My Duc Assisted Reproduction Technique Unit (IVFMD), My Duc Hospital, located in Ho Chi Minh City, Vietnam.
Per- and polyfluoroalkyl substances (PFAS) are man-made long-lasting chemical compounds that are found in everyday household items. Today they occur in the environment as a major group of pollutants. These compounds are broadly used in commercial product preparation such as, for food packaging, nonstick coatings, and firefighting foam.
View Article and Find Full Text PDF3D-ordered porous CdS/AgI/ZnO nanostructures were designed to perform as high-performance photoelectrodes for photoelectrochemical (PEC) water-splitting applications. They rely on the advantages of an extremely large active surface area, high absorption capacity in the visible-light region, fast carrier separation and transportation caused by the intrinsic ladder-like band arrangement. These nanostructures were fabricated by employing a three-stage experiment in a sequence of hard mold-assisted electrochemical deposition, wet chemical method and deposition-precipitation.
View Article and Find Full Text PDFTo compare the rate of positive thyroid peroxidase antibodies (TPO Ab) between women with different polycystic ovary syndrome (PCOS) phenotypes and women without PCOS. This is a retrospective cohort study. Women with PCOS at My Duc Hospital between June 1, 2020, and March 27, 2021, were matched with non-PCOS women by age.
View Article and Find Full Text PDFRodent coat color genes have been studied as a bioresource to understand developmental and cellular processes. The Downunder rat is a fancy variety with a marking on its belly that runs from the neck to the breech and appears to mirror the dorsal hooded marking. Here, we established a congenic strain carrying the Downunder (Du) gene in an F344 genetic background.
View Article and Find Full Text PDFObjective: This study aimed to investigate the impact of hyperandrogenism (HA) on the outcomes of ovulation induction (OI) using gonadotropin and intrauterine insemination (IUI) in patients with polycystic ovary syndrome (PCOS).
Methods: This was a retrospective cohort study including 415 patients undergoing OI using gonadotropin and IUI treatment between January 2018 and December 2020 at a single infertility center. Baseline characteristics, clinical and laboratory parameters, and pregnancy outcomes were investigated.
Density Functional Theory (DFT) and Grand Canonical Monte Carlo (GCMC) calculations are performed to study the structures and carbon dioxide (CO) adsorption properties of the newly designed metal-organic framework based on the CAU-8 (CAU stands for Christian-Albrechts Universität) prototype. In the new MOFs, the 4,4'-benzophenonedicarboxylic acid (HBPDC) linker of CAU-8 is substituted by 4,4'-oxalylbis(azanediyl)dibenzoic acid (HODA) and 4,4'-teraphthaloylbis(azanediyl)dibenzoic acid (HTDA) containing amide groups (-CO-NH- motif). Furthermore, MgO octahedral chains where dimethyl sulfoxide (DMSO) decorating the axial position bridged two Mg ions are considered.
View Article and Find Full Text PDFWe describe a proband evaluated through the Undiagnosed Diseases Network (UDN) who presented with microcephaly, developmental delay, and refractory epilepsy with a de novo p.Ala47Thr missense variant in the protein phosphatase gene, PPP5C. This gene has not previously been associated with a Mendelian disease, and based on the population database, gnomAD, the gene has a low tolerance for loss-of-function variants (pLI = 1, o/e = 0.
View Article and Find Full Text PDFHighly responsive methanol sensors working at low temperatures are developed using hierarchical ZnO nanorods decorated by Pt nanoparticles. The sensing materials are fabricated following a 3-step process: electrospinning of ZnO nanofibers, hydrothermal growth of hierarchical ZnO nanorods on the nanofibers and UV-assisted deposition of Pt nanoparticles. The morphology, structure and properties of the materials are examined by field-effect scanning electron microscopy, transmission electron microscope, x-ray diffraction, x-ray photoelectron spectroscopy, UV-Vis absorption spectroscopy, and electrical measurements.
View Article and Find Full Text PDFNanostructures of titanium nitride (TiN) have recently been considered as a new class of plasmonic materials that have been utilized in many solar energy applications. This work presents the synthesis of a novel nanostructure of TiN that has a nanodonut shape from natural ilmenite ore using a low-cost and bulk method. The TiN nanodonuts exhibit strong and spectrally broad localized surface plasmon resonance absorption in the visible region centered at 560 nm, which is well suited for thermoplasmonic applications as a nanoscale heat source.
View Article and Find Full Text PDFMicrolasers based on biomaterials have attracted enormous interest because of their promising potential for future applications in medical treatments, bio-tracking, and biosensing. In this work, we demonstrate chicken albumen as a novel and excellent low-cost biomaterial for a laser cavity. By using a simple but effective emulsion process, rhodamine B-doped chicken albumen microspheres with various diameters ranging from 20 μm to 100 μm can be fabricated.
View Article and Find Full Text PDFThe source of induced magnetism in the MoS monolayer induced by transition metal (Fe/Ni) collision is investigated using nonadiabatic ab inito molecular dynamics simulations that take into account high-spin and low-spin energy states during trajectory integration. By considering various metal firing angles, a strong interaction between the Fe/Ni atom and the MoS surface can be observed because of enormous increase in the kinetic energy of the metal atom. When firing along the Mo-S bond, the Fe bullet is pulled more strongly than when firing along the S-Mo-S bisector.
View Article and Find Full Text PDFThere is significant cultivation of persimmon (Diospyros kaki) in East Asia, a plant whose fruit has abundant nutrients, including vitamins, polyphenols, and dietary fiber. Persimmon dietary supplements can benefit health by amelioration of diabetes, cardiovascular disease, and obesity. There are also persimmon-based beverages produced via fermentation, such as wines and vinegars, and increasing consumption of these products in East Asia.
View Article and Find Full Text PDFThe protein cross-reactive material 197 (CRM197) is known to catalyze the hydrolytic cleavage of DNA (DNase activity). A suspected metal-binding site (S109, T111, and E112) and suspected DNA-binding motif (T89, K90, and V91) were predicted within the CRM197 protein X-ray crystal structure (4AE0) using METSITE and DNABindProt, respectively. Between these two predicted sites is a groove (K103, E116, T120, E122, F123, and R126) that may assist in DNase activity.
View Article and Find Full Text PDFIn this study, we revisit the proton transfer mechanism in [Zn(HPO4)(H2PO4)]2-, a coordination polymer possessing high proton conductivity. In a previous report [N. Phattharasupakun, J.
View Article and Find Full Text PDFThe sperm's crucial function is to locate and fuse with a mature oocyte. Under laboratory conditions, Caenorhabditis elegans sperm are very efficient at navigating the hermaphrodite reproductive tract and locating oocytes. Here, we identify chemosensory and oxygen-sensing circuits that affect the sperm's navigational capacity.
View Article and Find Full Text PDFVAMP/synaptobrevin-associated proteins (VAPs) contain an N-terminal major sperm protein domain (MSPd) that is associated with amyotrophic lateral sclerosis. VAPs have an intracellular housekeeping function, as well as an extracellular signaling function mediated by the secreted MSPd. Here we show that the VAP homolog VPR-1 is essential for gonad development.
View Article and Find Full Text PDFThe major sperm protein domain (MSPd) has an extracellular signaling function implicated in amyotrophic lateral sclerosis. Secreted MSPds derived from the VAPB homolog VPR-1 promote mitochondrial localization to actin-rich I-bands in body wall muscle. Here we show that the nervous system and germ line are key MSPd secretion tissues.
View Article and Find Full Text PDFFertilization, the union of an oocyte and a sperm, is a fundamental process that restores the diploid genome and initiates embryonic development. For the sperm, fertilization is the end of a long journey, one that starts in the male testis before transitioning to the female reproductive tract's convoluted tubule architecture. Historically, motile sperm were thought to complete this journey using luck and numbers.
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