Heterozygous variants in affect hearing, vision, cardiac, and immune function.

Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate (PIP) into inositol 1,4,5-trisphosphate (IP) and diacylglycerol (DAG), important signaling molecules involved in many cellular processes including Ca release from the endoplasmic reticulum (ER). encodes the PLCγ1 isozyme that is broadly expressed. Hyperactive somatic mutations of are observed in multiple cancers, but only one germline variant has been reported.

Room-temperature synthesis of sulfonated covalent organic framework for efficient enrichment of trace brominated phenols in aquatic products.

Brominated phenols (BPs), as ubiquitous environmental contaminants, accumulate in the food chain and pose potential health risks to humans through dietary exposure. Assessing the residual levels of BPs in foods is a prerequisite for determining the dietary exposure risk of BPs. However, the low abundance of BPs and complex food matrices hinder accurate analysis of BPs.

Hydrothermal Synthesis of Nanocomposites Combining Tungsten Trioxide and Zinc Oxide Nanosheet Arrays for Improved Photocatalytic Degradation of Organic Dye.

Both tungsten trioxide (WO) nanosheet arrays and tungsten trioxide/zinc oxide (WO/ZnO) nanocomposites were grown on fluorine-doped tin oxide (FTO) coated glass slides using a hydrothermal method to develop a visible-light-driven photocatalyst with easy reusability. Field emission scanning electron microscopy (FE-SEM) observations confirmed the formation of irregular oxide nanosheet arrays on the FTO surfaces. X-ray diffraction (XRD) analysis revealed the presence of hexagonal WO and wurtzite ZnO crystal phases.

UHPLC-QTOF-MS-based metabolomics joint high-throughput RNA sequencing transcriptomics approach for the analysis of fecal and liver biological samples and application in a case study for the mechanism of Qing-Kai-Ling oral liquid in treating MASLD.

Qing-Kai-Ling (QKL) oral liquid has been increasingly used in metabolic dysfunction-associated steatotic liver disease (MASLD). However, the specific metabolic differentials and metabolic pathway mechanisms that affect the MASLD regulated by QKL remained unclear. In this study, serum biochemical analyses and hematoxylin-eosin staining of the liver revealed QKL reduced liver injury and enhanced lipid metabolism ability, respectively.

Gene drive-based population suppression in the malaria vector Anopheles stephensi.

Gene drives are alleles that can bias the inheritance of specific traits in target populations for the purpose of modification or suppression. Here, we construct a homing suppression drive in the major urban malaria vector Anopheles stephensi targeting the female-specific exon of doublesex, incorporating two gRNAs and a nanos-Cas9 to reduce functional resistance and improve female heterozygote fitness. Our results show that the drive was recessive sterile in both females and males, with various intersex phenotypes in drive homozygotes.

Improving the suppressive power of homing gene drive by co-targeting a distant-site female fertility gene.

Gene drive technology has the potential to address major biological challenges. Well-studied homing suppression drives have been shown to be highly efficient in Anopheles mosquitoes, but for other organisms, lower rates of drive conversion prevent elimination of the target population. To tackle this issue, we propose a gene drive design that has two targets: a drive homing site where drive conversion takes place, and a distant site where cleavage induces population suppression.

A homing rescue gene drive with multiplexed gRNAs reaches high frequency in cage populations but generates functional resistance.

CRISPR homing gene drives have considerable potential for managing populations of medically and agriculturally significant insects. They operate by Cas9 cleavage followed by homology-directed repair, copying the drive allele to the wild-type chromosome and thus increasing in frequency and spreading throughout a population. However, resistance alleles formed by end-joining repair pose a significant obstacle.

Heterozygous variants in affect hearing, vision, cardiac, and immune function.

Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate (PIP) into inositol 1,4,5-trisphosphate (IP) and diacylglycerol (DAG), important signaling molecules involved in many cellular processes including Ca release from the endoplasmic reticulum (ER). encodes the PLCγ1 isozyme that is broadly expressed. Hyperactive somatic mutations of are observed in multiple cancers, but only one germline variant has been reported.

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.

Objectives: Transcript sequencing of patient-derived samples has been shown to improve the diagnostic yield for solving cases of suspected Mendelian conditions, yet the added benefit of full-length long-read transcript sequencing is largely unexplored.

Methods: We applied short-read and full-length transcript sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line from an individual with neuropathy that previously lacked a molecular diagnosis.

Results: We identified an intronic homozygous c.

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.

SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L-serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) syndrome, but individuals with heterozygous variants are not thought to have disease. We identify an 8-year-old patient with global developmental delay, spasticity, epilepsy, and microcephaly who has a de novo heterozygous three amino acid duplication in SLC1A4 (L86_M88dup).

Assessment of distant-site rescue elements for CRISPR toxin-antidote gene drives.

Gene drive is a genetic engineering technology that can enable super-mendelian inheritance of specific alleles, allowing them to spread through a population. New gene drive types have increased flexibility, offering options for confined modification or suppression of target populations. Among the most promising are CRISPR toxin-antidote gene drives, which disrupt essential wild-type genes by targeting them with Cas9/gRNA.

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.

Objectives: Transcript sequencing of patient derived samples has been shown to improve the diagnostic yield for solving cases of likely Mendelian disorders, yet the added benefit of full-length long-read transcript sequencing is largely unexplored.

Methods: We applied short-read and full-length isoform cDNA sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line from an individual with neuropathy that previously lacked a molecular diagnosis.

Results: We identified an intronic homozygous c.

Recording of a holographic cylindrical vector beam converter with a truncated cone prism.

This Letter proposes a holographic cylindrical vector beam converter (HCVBC) design that incorporates a continuously polarization-selective volume hologram circular-grating. A specially designed truncated cone prism is adopted for recording, which is conducted with a single incident, expanded, radially polarized beam. A prototype of this HCVBC was recorded and tested successfully.

A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System.

DNA-based population screening has been proposed as a public health solution to identify individuals at risk for serious health conditions who otherwise may not present for medical care. The clinical utility and public health impact of DNA-based population screening is a subject of active investigation. Geisinger, an integrated healthcare delivery system, was one of the first healthcare systems to implement DNA screening programs (MyCode Community Health Initiative (MyCode) and clinical DNA screening pilot) that leverage exome data to identify individuals at risk for developing conditions with potential clinical actionability.

Measurement of the refractive index of lenses from the maximum phase difference of the total internal reflection with a polarization camera.

The proposed total internal reflection (TIR)-based technique can be used for measuring the refractive index of lenses. Distribution of the phase difference between the - and -polarization states of the reflected light induced by TIR can be obtained by a polarization camera. The refractive index of the lens can be determined from the detected maximum phase difference, with the specific measurement equation.

High Response CO Sensor Based on a Polyaniline/SnO₂ Nanocomposite.

A polyaniline (PANI)/tin oxide (SnO₂) composite for a CO sensor was fabricated using a composite film composed of SnO₂ nanoparticles and PANI deposition in the present study. Tin oxide nanoparticles were synthesized by the sol-gel method. The SnO₂ nanoparticles provided a high surface area to significantly enhance the response to the change in CO concentration at low operating temperature (<75 °C).

Prism-hologram-prism sandwiched recording method for polarization-selective substrate-mode volume holograms with a large diffraction angle.

We propose a prism-hologram-prism sandwiched recording method for the fabrication of polarization-selective substrate-mode volume holograms with a large diffraction angle. In fabrication, the C-RT20 photopolymer is sandwiched between two 45°-90°-45° prisms and the interference fringes can be easily recorded in the recording material. The experimental results are in good agreement with the theoretical predictions.

Heterodyne moiré surface profilometry.

In this study, a novel moiré fringe analysis technique is proposed for measuring the surface profile of an object. After applying a relative displacement between two gratings at a constant velocity, every pixel of CMOS camera can capture a heterodyne moiré signal. The precise phase distribution of the moiré fringes can be extracted using a one-dimensional fast Fourier transform (FFT) analysis on every pixel, simultaneously filtering the harmonic noise of the moiré fringes.

Multiport optical circulator by using polarizing beam splitter cubes as spatial walk-off polarizers.

Optical circulators are necessary passive devices applied in optical communication systems. In the design of optical circulators, the implementation of the function of spatial walk-off polarizers is a key technique that significantly influences the performance and cost of a device. This paper proposes a design of a multiport optical circulator by using polarizing beam splitter cubes as spatial walk-off polarizers.

Measurement of the pretilt angle and the cell gap of nematic liquid crystal cells by heterodyne interferometry.

This work proposes a simple method, based on the crystal rotation technique and heterodyne interferometry, to simultaneously determine the pretilt angle and cell gap of nematic liquid crystal cells. When heterodyne light passes through a nematic liquid crystal cell, the phase retardation given by the characteristic parameters of the cell can be measured accurately by heterodyne interferometry. This phase retardation relates to the pretilt angle, cell gap, and angle of incidence on the cell.

Optical method for measuring optical rotation angle and refractive index of chiral solution.

Based on the phenomena of Brewster's angle and the principles of common-path heterodyne interferometry, we present an optical method for measuring the optical rotation angle and the refractive index of a chiral solution simultaneously in one optical configuration. A heterodyne light beam and a circularly polarized heterodyne light beam are separately guided to project onto the interface of a semicircle glass and a chiral solution. One of the beams is transmitted through the solution, and the other is reflected near Brewster's angle at the interface.

[Determination of quercetin in apples by reversed-phase high performance liquid chromatography].

A method for the determination of quercetin in pulp and peel of apples by reversed-phase high performance liquid chromatography with internal standard was developed. Samples were frozen at -80 degrees C for 24 h, then added 6 mol/L hydrochloride under the protection of antioxidant 2,6-di-tert-butyl-p-cresol. The slurry was hydrolyzed thermostatically at 90 degrees C for 2 h and centrifugated for 10 min.

Improved N-port optical quasi-circulator by using a pair of orthogonal holographic spatial- and polarization- modules.

Based on the flexibilities of light beam propagation in three dimensions, we propose an improved N-port optical quasi-circulator by using a pair of orthogonal holographic spatial- and polarization- modules. All optical elements are located in parallel planes that are perpendicular to the optical axis. The number of optical elements is decreased, and a higher performance optical quasi-circulator without crosstalk and polarization mode dispersion can be easily achieved.