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Full length transcriptomic profiling reveals insights into the white coat phenotype in Waardenburg syndrome mice harboring the Mitf R324del mutation
Abstract Waardenburg syndrome (WS) is distinguished by depigmented patches of hair and skin, striking blue eyes and sensorineural hearing loss. Studies on alternative splicing (AS) in the abnormal pigmentation in skin in WS are currently poorly understood. In this study, we conducted comprehensive full-length transcriptome sequencing analysis on abdominal skin tissues from mice harboring the Mitf p.R324del mutation and wild-type controls. Our analysis revealed 3619 differentially expressed genes (DEGs), with 1916 upregulated and 1703 downregulated. Notably, pigment-associated genes and related signaling pathways were significantly enriched. Additionally, we identified extensive AS events in the skin tissue of Mitf mutant mice, including 97 A3, 85 A5, 101 AF, 42 AL, 8 MX, 44 RI, and 184 SE events (P < 0.05), suggesting AS events may contribute to the pigment distribution patterns in Mitf p.R324del mutation mice. Furthermore, we observed downregulation of Dct, Mlana, and Snai2, which indicates that Mitf mutations disrupt neural crest cells into melanocytes, melanosome structure, and melanin biosynthesis. Overall, our results support that variation in gene expression and AS are important and complementary mechanisms governing pigmentation defects in WS.
Observation of charge–parity symmetry breaking in baryon decays
Abstract The Standard Model of particle physics—the theory of particles and interactions at the smallest scale—predicts that matter and antimatter interact differently due to violation of the combined symmetry of charge conjugation (C) and parity (P). Charge conjugation transforms particles into their antimatter particles, whereas the parity transformation inverts spatial coordinates. This prediction applies to both mesons, which consist of a quark and an antiquark, and baryons, which are composed of three quarks. However, despite having been discovered in various meson decays, CP violation has yet to be observed in baryons, the type of matter that makes up the observable Universe. Here we report a study of the decay of the beauty baryon $${\varLambda }_{0}^{b}$$ Λ 0 b to the p K − π + π − final state, which proceeds through b → u or b → s quark-level transitions, and its CP-conjugated process, using data collected by the Large Hadron Collider beauty experiment1 at the European Organization for Nuclear Research (CERN). The results reveal significant asymmetries between the decay rates of the $${\varLambda }_{0}^{b}$$ Λ 0 b baryon and its CP-conjugated antibaryon, providing, to our knowledge, the first observation of CP violation in baryon decays and demonstrating the different behaviours of baryons and antibaryons. In the Standard Model, CP violation arises from the Cabibbo–Kobayashi–Maskawa mechanism2, and new forces or particles beyond the Standard Model could provide further contributions. This discovery opens a new path in the search for physics beyond the Standard Model.
AI-assisted intraoperative navigation for safe right liver mobilization in pure laparoscopic donor hepatectomy: an experimental multi-institutional validation study
Maternal parity modifies the association of birthweight polygenic score with fetal growth
Abstract Low birthweight is more common among children born to nulliparas (women with no prior pregnancy lasting ≥20 weeks of gestation) compared to those born to multiparas (women with one or more prior pregnancies lasting ≥20 weeks). We investigated whether parity modifies the association of maternal genetic risk score (mGRS) of maternal birthweight-reducing genetic variants with fetal size and weekly growth pace (i.e., change in fetal size over a 1-week gestational age interval) at gestational weeks 10–40 in two multi-ancestral cohorts of pregnant women. mGRS, derived from previously identified birthweight-reducing maternal variants was tested for association with fetal size and weekly growth pace using linear regression adjusted for fetal sex and top 10 genetic principal components. Among nulliparas, but not among multiparas, higher birthweight-reducing mGRS was associated with lower fetal size and slower weekly growth pace as measured by fetal weight, humerus and femur lengths, and abdominal and head circumferences beginning from gestational week 11. The findings suggest that the maternal genetic factors target major physiological changes at the first pregnancy that get less profound with multi-parity. Considering parity as a biological variable may facilitate the precision of identifying sensitive intrauterine periods and interventions for pregnancy outcomes using genomics.
Application of CycleGAN-based low-light image enhancement algorithm in foreign object detection on belt conveyors in underground mines
Study on the dust distribution law in high chute mines based on grey relational analysis
Retrospective study of onychomycosis patients treated with ciclopirox 8% HPCH and oral antifungals applying artificial intelligence to electronic health records
Identification of novel human IgE-binding peptides from a phage display library for total IgE detection
Protective effects of avocado peel and seed extracts against UVB-damaged fibroblasts for the development of an anti-photoaging nanoemulgel
Abstract This study investigates the anti-photoaging potential of ethanolic extracts from avocado peel and seed and their application in a nanoemulgel formulation. Both extracts demonstrated high phenolic content and strong antioxidant activity, with DPPH IC50 values of 57.05 ± 1.65 µg/ml (peel) and 52.44 ± 0.32 µg/ml (seed). In UVB-irradiated human dermal fibroblasts (BJ cells), the extracts (12.5–50 µg/ml) significantly reduced intracellular ROS, decreased MMP-1 and pro-inflammatory cytokines (TNF-α, IL-1β, IL-6), and restored collagen levels. A nanoemulgel was developed using the phase inversion composition (PIC) method, with avocado oil, isononyl isononanoate, Tween 60, and polyglyceryl-3 diisostearate, which resulted in nanoemulsions (NEs) with an average droplet size of 84.45 ± 5.45 nm and a zeta potential of −69.94 ± 5.66 mV. Incorporation of 0.5% Aqupec HV-505E and avocado extracts produced stable, light green gel. The resulting avocado extract-loaded nanoemulgel (ANE) demonstrated antioxidant activity, cytocompatibility with BJ cells, and stability in terms of color, pH, and viscosity. These findings reveal the anti-aging potential of avocado peel and seed extracts in preserving effectiveness within nanoemulgel for skin applications.
Biphasic liquids with shape-shifting and bistable microdomains
A real-time predictive postural control system with temperature feedback
Design and characterization of multiwall carbon nanotube/polydimethylsiloxane composite MIMO antenna for wearable and vehicular applications
An efficient fusion detector for road defect detection
Dynamic kinetic resolution of phosphines with chiral supporting electrolytes
The impact of China’s super urban agglomeration strategy on industrial pollution
Author Correction: BNT162b2 vaccine induces neutralizing antibodies and poly-specific T cells in humans
Advanced polynomial Y-function method for precise mobility characterization in 2D FETs
Factors associated with health-related quality of life and financial toxicity among gynecological cancer patients in Southern Nigeria
Abstract The health-related quality of life (HRQoL) and financial toxicity (FT) of women with gynecological cancers in sub-Saharan Africa have not been sufficiently explored. This study assessed predictors of HRQoL and FT, as well as the effect of FT on HRQoL, among affected women in Nigeria. This cross-sectional study investigated 574 women with gynecological cancers receiving care at various stages at five academic hospitals in southern Nigeria between June 2022 and September 2024. HRQoL and FT were evaluated using the FACT-G and FACIT-COST tools, respectively. Multivariable linear regression models estimated the associations of patient characteristics with HRQoL and FT and the effect of FT on HRQoL. Most women experienced FT. After multivariable adjustments, unemployed women, women with ovarian and uterine cancers and choriocarcinoma, higher disease stages, and worse ECOG status had worse HRQoL. Conversely, women in remission had better HRQoL. FT was worse with stages III and IV disease and in those on active treatment. However, older women, those with health insurance, higher income, ovarian cancer and choriocarcinoma had better FT. FT varied linearly with HRQoL, with better HRQoL per unit better FT. This effect was stronger in those with a first tumor, those in pre-treatment and those in remission. Our findings identify possible predictors of HRQoL and FT and suggest potential benefits of reducing FT on the HRQoL of women with gynecological cancers in Nigeria.