Case report: A novel nonsense mutation in the gene causes nonsyndromic hearing loss in a China family.

The gene is located on chromosome 5q13.2 and is associated with autosomal recessive nonsyndromic hearing loss (OMIM: # 610572). In this study, we identified and reported a novel nonsense mutation in c.

Alzheimer's Disease polygenic risk, the plasma proteome, and dementia incidence among UK older adults.

Alzheimer's Disease (AD) is a complex polygenic neurodegenerative disorder. Its genetic risk's relationship with all-cause dementia may be influenced by the plasma proteome. Up to 40,139 UK Biobank participants aged ≥ 50y at baseline assessment (2006-2010) were followed-up for ≤ 15 y for dementia incidence.

Flexible and transparent ultra-broadband low-profile frequency selective rasorber.

An ultra-broadband, low-profile, flexible, and transparent frequency selective rasorber (FSR) is designed based on indium tin oxide (ITO) film. The -1 dB transmission band of the resistive sheet and the bandpass FSS are 0.10 - 8.

Thalamic integration of basal ganglia and cerebellar circuits during motor learning.

The ability to control movement and learn new motor skills is one of the fundamental functions of the brain. The basal ganglia (BG) and the cerebellum (CB) are two key brain regions involved in controlling movement, and neuronal plasticity within these two regions is crucial for acquiring new motor skills. However, how these regions interact to produce a cohesive unified motor output remains elusive.

Near-theoretical strength and deformation stabilization achieved via grain boundary segregation and nano-clustering of solutes.

Grain boundary hardening and precipitation hardening are important mechanisms for enhancing the strength of metals. Here, we show that these two effects can be amplified simultaneously in nanocrystalline compositionally complex alloys (CCAs), leading to near-theoretical strength and large deformability. We develop a model nanograined (TiZrNbHf)Ni alloy via thermodynamic design.

[The role of protein C receptor (PROCR) in the whole glucan particle (WGP) induced maturation of mouse bone marrow-derived dendritic cells].

Objective To investigate the effects of protein C receptor (PROCR) on the maturation and immune functions of mouse bone marrow-derived dendritic cells (BMDCs) induced by whole glucan particle (WGP). Methods The GSE2197 dataset was downloaded from the Gene Expression Omnibus (GEO) database of the National Center of Biotechnology Information (NCBI). By analyzing the microarray data of this dataset, differentially expressed genes (DEGs) were identified.

MATES: a deep learning-based model for locus-specific quantification of transposable elements in single cell.

Transposable elements (TEs) are crucial for genetic diversity and gene regulation. Current single-cell quantification methods often align multi-mapping reads to either 'best-mapped' or 'random-mapped' locations and categorize them at the subfamily levels, overlooking the biological necessity for accurate, locus-specific TE quantification. Moreover, these existing methods are primarily designed for and focused on transcriptomics data, which restricts their adaptability to single-cell data of other modalities.

Ultrahigh-performance photodetectors based on low-dimensional CsAgBiBr/CdS heterojunction.

Lead-free double perovskite CsAgBiBr has garnered increasing attention in photoelectric applications owing to its good stability and excellent photoelectric properties. However, the poor carrier transport in CsAgBiBr thin films constraints their further application in photodetection. To overcome this issue, we have developed an innovative low-dimensional CsAgBiBr/CdS heterojunction photodetector with substantially improved performance.

Effects of Selenium, Iron, and Zinc Enrichment on Cultured Sea Cucumber (Apostichopus Japonicus).

Selenium, iron, and zinc (Se, Fe, Zn) are essential trace elements crucial for animal growth, development, and immune protection, but they can be detrimental in excess. This study evaluates the impacts of Se, Fe and Zn on Apostichopus japonicus over a period of nine days, utilizing concentrations ranging from low to high: Se (0.20 µmol/L and 0.

Feeding Behavior, Gut Microbiota, and Transcriptome Analysis Reveal Individual Growth Differences in the Sea Urchin .

Growth differentiation among farmed sea urchins () poses a significant challenge to aquaculture, with there being a limited understanding of the underlying molecular mechanisms. In this study, sea urchins with varying growth rates, reared under identical conditions, were analyzed for feeding behavior, gut microbiota, and transcriptomes. Large-sized sea urchins demonstrated significantly higher feeding ability and longer duration than smaller ones.

Ambient electrosynthesis of urea with nitrate and carbon dioxide over a CuRu alloy catalyst.

Urea synthesis under mild conditions starting from the electrocatalytic coupling of carbon dioxide (CO) and nitrate represents a promising alternative experimentally to conquer the huge energy consumption in the industrial Haber-Bosch process. Herein, an electrocatalyst consisting of CuRu alloy nanoparticles on carbonized cellulose (CuRu-CBC) is designed and realizes the urea yield rate of 394.85 ± 16.

A Novel Self-Amplifying mRNA with Decreased Cytotoxicity and Enhanced Protein Expression by Macrodomain Mutations.

The efficacy and safety of self-amplifying mRNA (saRNA) have been demonstrated in COVID-19 vaccine applications. Unlike conventional non-replicating mRNA (nrmRNA), saRNA offers a key advantage: its self-replication mechanism fosters efficient expression of the encoded protein, leading to substantial dose savings during administration. Consequently, there is a growing interest in further optimizing the expression efficiency of saRNA.

Mitochondrial DNA copy number associated dementia risk by somatic mutations and frailty.

Mitochondrial dysfunction is linked to physical impairment and dementia. Mitochondrial DNA copy number (mtDNAcn) from blood may predict cognitive decline and dementia risk, but the effect of somatic mutations or frailty is unknown. We estimated mtDNAcn using fastMitoCalc and microheteroplasmies using mitoCaller, from Whole Genome Sequencing (WGS) data.

Identification and expression of prognostic-related genes in kidney renal clear cell carcinoma and their possible regulatory mechanisms.

Background: Many factors affect the prognosis of kidney renal clear cell carcinoma (KIRC). Early diagnosis can significantly improve the prognosis of KIRC patients. Therefore, a method needs to be developed to diagnose KIRC early, predict patient prognosis, and improve personalized treatments.

Single-cell multi-omics identify novel regulators required for osteoclastogenesis during aging.

Age-related osteoporosis manifests as a complex pathology that disrupts bone homeostasis and elevates fracture risk, yet the mechanisms facilitating age-related shifts in bone marrow macrophages/osteoclasts (BMMs/OCs) lineage are not fully understood. To decipher these mechanisms, we conducted an investigation into the determinants controlling BMMs/OCs differentiation. We performed single-cell multi-omics profiling on bone marrow samples from mice of different ages (1, 6, and 20 months) to gain a holistic understanding of cellular changes across time.

Effects of Vitamin C on the Gonad Growth, Texture Traits, Collagen Content and Synthesis Related Gene Expression of Sea Urchin ().

The market value of sea urchin gonads is determined by the specific characteristics associated with gonad size and texture. Formulated feeds can effectively promote the gonad growth of sea urchins but cannot assure essential gonad texture traits. The objective of this study was to investigate the impact of vitamin C (VC) on the gonad growth, texture, collagen content, and the expression of genes involved in the collagen synthesis of sea urchins ().

Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application.

We rigorously assessed a comprehensive association testing framework for heteroplasmy, employing both simulated and real-world data. This framework employed a variant allele fraction (VAF) threshold and harnessed multiple gene-based tests for robust identification and association testing of heteroplasmy. Our simulation studies demonstrated that gene-based tests maintained an appropriate type I error rate at α = 0.

Oligodendrocytes and myelin limit neuronal plasticity in visual cortex.

Developmental myelination is a protracted process in the mammalian brain. One theory for why oligodendrocytes mature so slowly posits that myelination may stabilize neuronal circuits and temper neuronal plasticity as animals age. We tested this theory in the visual cortex, which has a well-defined critical period for experience-dependent neuronal plasticity.

An 8-(Diazomethyl) Quinoline Derivatized Acyl-CoA in Silico Mass Spectral Library Reveals the Landscape of Acyl-CoA in Aging Mouse Organs.

Acyl-Coenzyme As (acyl-CoAs) are essential intermediates to incorporate carboxylic acids into the bioactive metabolic network across all species, which play important roles in lipid remodeling, fatty acids, and xenobiotic carboxylic metabolism. However, due to the poor liquid chromatographic behavior, the relatively low mass spectrometry (MS) sensitivity, and lack of authentic standards for annotation, the in-depth untargeted profiling of acyl-CoAs is challenging. We developed a chemical derivatization strategy of acyl-CoAs by employing 8-(diazomethyl) quinoline (8-DMQ) as the labeling reagent, which increased the detection sensitivity by 625-fold with good peak shapes.

Study on Low-Velocity Impact and Residual Compressive Mechanical Properties of Carbon Fiber-Epoxy Resin Composites.

Room temperature drop hammer impact and compression after impact (CAI) experiments were conducted on carbon fiber-epoxy resin (CF/EP) composites to investigate the variation in impact load and absorbed energy, as well as to determine the residual compressive strength of CF/EP composites following impact damage. Industrial CT scanning was employed to observe the damage morphology after both impact and compression, aiding in the study of impact-damage and compression-failure mechanisms. The results indicate that, under the impact load, the surface of a CF/EP composite exhibits evident cratering as the impact energy increases, while cracks form along the length direction on the back surface.

Nanoplastics exposure simplifies the network structure of sea cucumber (Apostichopus japonicus) gut microbiota and improves cluster randomness.

Nanoplastics (NPs) are abundant in ocean environments, leading to environmental pollution and notable disruptions to the physiological functions of marine animals. To investigate the toxic effects of NPs on echinoderms, specifically sea cucumbers (Apostichopus japonicus), they were exposed to varying concentrations of NPs (0, 10, 10 particles/L) for 14 d. Subsequently, the 10 particles/L exposure group was purified for 35 d to elucidate the impact of both NPs exposure and purification on the intestinal bacteria structure and function.

Impact-resistant supercapacitor by hydrogel-infused lattice.

The safety of energy storage devices is increasingly crucial due to the growing requirements for application under harsh conditions. Effective methods for enhancing robustness without compromising functionality are necessary. Here we present an impact-resistant, ready-to-use supercapacitor constructed from self-healable hydrogel electrolyte-infused lattice electrodes.