PRAF2 as a novel biomarker for breast cancer with machine learning and experimentation validation.

Background: Breast cancer (BC) is the most prevalent malignancy in women. Potential therapeutic targets for BC are of great significance. In our previous study, we found that prenylated rab acceptor 1 domain family member 2 (PRAF2) is an oncogene in BC.

Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene.

Background: Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease. Our goal is to analyze intronic variants in PKHD1 at the mRNA level.

The impact of deep learning image reconstruction of spectral CTU virtual non contrast images for patients with renal stones.

Purpose: To compare image quality and detection accuracy of renal stones between deep learning image reconstruction (DLIR) and Adaptive Statistical Iterative Reconstruction-Veo (ASIR-V) reconstructed virtual non-contrast (VNC) images and true non-contrast (TNC) images in spectral CT Urography (CTU).

Methods: A retrospective analysis was conducted on images of 70 patients who underwent abdominal-pelvic CTU in TNC phase using non-contrast scan and contrast-enhanced corticomedullary phase (CP) and excretory phase (EP) using spectral scan. The TNC scan was reconstructed using ASIR-V70 % (TNC-AR70), contrast-enhanced scans were reconstructed using AR70, DLIR medium-level (DM), and high-level (DH) to obtain CP-VNC-AR70/DM/DH and EP-VNC-AR70/DM/DH image groups, respectively.

Fermentation broth of a novel endophytic fungus enhanced maize salt tolerance by regulating sugar metabolism and phytohormone biosynthesis or signaling.

Soil salinization is a major environmental factor that severely affects global agriculture. Root endophytes can enter root cells, and offer various ecological benefits, such as promoting plant growth, improving soil conditions, and enhancing plant resistance. Su100 is a novel strain of endophytic fungus that was characterized from blueberry roots.

A novel growth-promoting dark septate endophytic fungus improved drought tolerance in blueberries by modulating phytohormones and non-structural carbohydrates.

Drought is a significant global issue affecting agricultural production, and the utilization of beneficial rhizosphere microorganisms is one of the effective ways to increase the productivity of crops and forest under drought. In this study, we characterized a novel growth-promoting dark septate endophytes (DSE) fungus R16 (Dothideomycetes sp.) derived from blueberry roots.

Deep learning image reconstruction for low-kiloelectron volt virtual monoenergetic images in abdominal dual-energy CT: medium strength provides higher lesion conspicuity.

Background: The best settings of deep learning image reconstruction (DLIR) algorithm for abdominal low-kiloelectron volt (keV) virtual monoenergetic imaging (VMI) have not been determined.

Purpose: To determine the optimal settings of the DLIR algorithm for abdominal low-keV VMI.

Material And Methods: The portal-venous phase computed tomography (CT) scans of 109 participants with 152 lesions were reconstructed into four image series: VMI at 50 keV using adaptive statistical iterative reconstruction (Asir-V) at 50% blending (AV-50); and VMI at 40 keV using AV-50 and DLIR at medium (DLIR-M) and high strength (DLIR-H).

Information System Model and Key Technologies of High-Definition Maps in Autonomous Driving Scenarios.

High-definition maps can provide necessary prior data for autonomous driving, as well as the corresponding beyond-line-of-sight perception, verification and positioning, dynamic planning, and decision control. It is a necessary element to achieve L4/L5 unmanned driving at the current stage. However, currently, high-definition maps still have problems such as a large amount of data, a lot of data redundancy, and weak data correlation, which make autonomous driving fall into difficulties such as high data query difficulty and low timeliness.

Deep learning image reconstruction generates thinner slice iodine maps with improved image quality to increase diagnostic acceptance and lesion conspicuity: a prospective study on abdominal dual-energy CT.

Background: To assess the improvement of image quality and diagnostic acceptance of thinner slice iodine maps enabled by deep learning image reconstruction (DLIR) in abdominal dual-energy CT (DECT).

Methods: This study prospectively included 104 participants with 136 lesions. Four series of iodine maps were generated based on portal-venous scans of contrast-enhanced abdominal DECT: 5-mm and 1.

Investigation of N-Glycan Functions in Receptor for Advanced Glycation End Products V Domain through Chemical Glycoprotein Synthesis.

The receptor for advanced glycation end products (RAGE) plays a crucial role in inflammation-related pathways and various chronic diseases. Despite the recognized significance of N-glycosylation in the ligand-binding V domain (VD) of RAGE, a comprehensive understanding of the site-activity and structure-activity relationships is lacking due to the challenges in obtaining homogeneous glycoprotein samples through biological expression. Here, we combined chemical and chemoenzymatic approaches to synthesize RAGE-VD and its congeners with Asn3-glycosylation by incorporating precise N-glycan structures.

Three exonic variants in the gene cause aberrant splicing in a minigene assay.

X-linked hypophosphatemia (XLH, OMIM 307800) is a rare phosphorus metabolism disorder caused by PHEX gene variants. Many variants simply classified as missense or nonsense variants were only analyzed at the DNA level. However, growing evidence indicates that some of these variants may alter pre-mRNA splicing, causing diseases.

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay.

Type IV collagen is an integral component of basement membranes. Mutations in COL4A1, one of the key genes encoding Type IV collagen, can result in a variety of diseases. It is clear that a significant proportion of mutations that affect splicing can cause disease directly or contribute to the susceptibility or severity of disease.

Valosin-containing protein acts as a target and mediator of S-nitrosylation in the heart through distinct mechanisms.

S-nitrosylation (SNO) is an emerging paradigm of redox signaling protecting cells against oxidative stress in the heart. Our previous studies demonstrated that valosin-containing protein (VCP), an ATPase-associated protein, is a vital mediator protecting the heart against cardiac stress and ischemic injury. However, the molecular regulations conferred by VCP in the heart are not fully understood.

A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by defects in kidney, heart, eyes, hearing, and feet. TBS has been demonstrated to result from heterozygous variants in the SALL1 gene, which encodes zinc finger protein believed to function as a transcriptional repressor.

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.

Background: X-linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of the pre-mRNA by altering various splicing regulatory signals. The male patients with XLAS have a strong genotype-phenotype correlation.

Impacts of Adaptive Statistical Iterative Reconstruction-V and Deep Learning Image Reconstruction Algorithms on Robustness of CT Radiomics Features: Opportunity for Minimizing Radiomics Variability Among Scans of Different Dose Levels.

This study aims to investigate the influence of adaptive statistical iterative reconstruction-V (ASIR-V) and deep learning image reconstruction (DLIR) on CT radiomics feature robustness. A standardized phantom was scanned under single-energy CT (SECT) and dual-energy CT (DECT) modes at standard and low (20 and 10 mGy) dose levels. Images of SECT 120 kVp and corresponding DECT 120 kVp-like virtual monochromatic images were generated with filtered back-projection (FBP), ASIR-V at 40% (AV-40) and 100% (AV-100) blending levels, and DLIR algorithm at low (DLIR-L), medium (DLIR-M), and high (DLIR-H) strength levels.

Biosynthesis of Epipyrone A Reveals a Highly Specific Membrane-Bound Fungal -Glycosyltransferase for Pyrone Galactosylation.

Epipyrone A is a unique -galactosylated 4-hydroxy-2-pyrone derivative with an antifungal potential from the fungus . We elucidated its biosynthesis via heterologous expression and characterized an unprecedented membrane-bound pyrone -glycosyltransferase biochemically. Molecular docking and mutagenesis experiments suggested a possible mechanism for the heterocyclic -glycosylation and the importance of a transmembrane helix for its catalysis.

Tracking endogenous proteins based on RNA editing-mediated genetic code expansion.

Protein labeling approaches are important to study proteins in living cells, and genome editing tools make it possible to tag endogenous proteins to address the concerns associated with overexpression. Here we established RNA editing-mediated noncanonical amino acids (ncAAs) protein tagging (RENAPT) to site-specifically label endogenous proteins with ncAAs in living cells. RENAPT labels protein in a temporary and nonheritable manner and is not restricted by protospacer adjacent motif sequence.

Analyzing the Correlation Between Serum Biomarkers and Child-Pugh Score in Liver Cirrhosis.

Objective: This study aimed to analyze the diagnostic efficacy of serum biomarkers in liver cirrhosis patients categorized by Child-Pugh scores.

Methods: An observational cross-sectional study design was employed. A total of 110 liver cirrhosis patients, classified according to Child-Pugh scores and 60 healthy individuals were included in this study.

Potential Biocontrol Microorganisms Causing Attenuated Pathogenicity in .

A phenomenon of pathogenicity attenuation of was consistently observed during its subculture on grape. To clarify the causes of attenuated pathogenicity of , culturable microbes were isolated from the mass (mycelia, sporangiophores, and sporangia) in each generation and tested for their biocontrol efficacies on grape downy mildew (GDM). The results showed that the incidence of GDM decreased with the increase in the number of subculture times on both vineyard-collected leaves and grape leaves from in vitro-grown seedlings.

Adult localized Langerhans cell histiocytosis: A case report.

Background: Langerhans cell histiocytosis (LCH) is a rare clonal proliferative disease of Langerhans cells with unknown pathogenesis. An increasing number of clinicians recognize that LCH has a wide clinical spectrum and a highly varied course. Adults rarely develop LCH.

Functional analysis of the CTNS gene exonic variants predicted to affect splicing.

Cystinosis is a severe, monogenic systemic disease caused by variants in CTNS gene. Currently, there is growing evidence that exonic variants in many diseases can affect pre-mRNA splicing. The impact of CTNS gene exonic variants on splicing regulation may be underestimated due to the lack of routine studies at the RNA level.

Nuclear translocation of thioredoxin-1 promotes colorectal cancer development via modulation of the IL-6/STAT3 signaling axis through interaction with STAT3.

Thioredoxin 1 (Trx-1) is a small redox protein predominantly localized in the cytoplasm. Its expression is increased in several cancers, including colorectal cancer (CRC). However, the function of Trx-1 translocation to the nucleus in cancer is not clear.