A novel missense variant of HS6ST2 gene in Paganini-Miozzo syndrome with a rare neurodevelopmental and Endocrine phenotypes.

Paganini-Miozzo syndrome (MRXSPM) is a globally rare disease caused by hemizygous mutations in the gene on chromosome Xq26. This study presents the first case of MRXSPM in China, meanwhile the fourth case worldwide. The proband was admitted to the hospital due to developmental delay.

A Truncated Mutation of TP53 Promotes Chemoresistance in Tongue Squamous Cell Carcinoma.

Tongue squamous cell carcinoma (TSCC), a subtype of head and neck squamous cell carcinoma, is characterized by frequent chemoresistance. Genetic mutations commonly observed in TSCC play a critical role in malignant progression; thus, elucidating their functional significance is essential for developing effective treatment strategies. To more accurately investigate the relationship between mutations and chemoresistance, we established low-passage TSCC cells, CTSC-1, obtained from a chemoresistant patient, and CTSC-2, from a treatment-naïve patient.

Role of SCCA and CYFRA 21-1 in the differential diagnosis of sinonasal benign and malignant diseases.

Objectives: In previous study, we have found that preoperative serum squamous cell carcinoma antigen (SCCA) and cytokeratin 19 fragment antigen 21-1(CYFRA 21-1) could be used as serum tumor markers for the diagnosis of sinonasal inverted papilloma (SNIP). Thus, we detected the expression of SCCA and CYFRA 21-1 in tumor tissue and serum to further demonstrate the role of SCCA and CYFRA21-1 in SNIP and other differential diseases.

Methods: Clinical data including gender, age, and preoperative serum SCCA and CYFRA 21-1 levels were obtained respectively from 34,91,59 patients with chronic rhinosinusitis with nasal polyps (CRSwNP), SNIP, and sinonasal squamous cell carcinoma (SNSCC).

ADAM28 promotes epithelial mesenchymal transition and impairs tight junctions in non-eosinophilic chronic rhinosinusitis with nasal polyps by inducing M1 polarization of macrophages.

Background: Chronic rhinosinusitis with nasal polyps (CRSwNP) is characterized by tight junction dysfunction associated with epithelial-mesenchymal transition (EMT) processing. ADAM28 participates in the pathogenic process of inflammatory airway diseases.

Methods: The effects of ADAM28 knockdown on the expression levels of the M1-type macrophage markers were examined using M1-type macrophage polarization model established with the THP1 cells.

Signaling lymphocytic activation molecule family 8 disrupts epithelial barrier in chronic rhinosinusitis with nasal polyps through M1 macrophage polarization.

Background: Recent studies reveal that M1 macrophages accumulate predominantly in noneosinophilic chronic rhinosinusitis with nasal polyps (neCRSwNP). However, the precise mechanisms regulating M1 macrophages and their impact on the epithelial barrier remain unclear.

Objective: To investigate the expression and regulatory role of signaling lymphocytic activation molecule family (SLAMF)8, a molecule exclusively expressed in myeloid cells, in M1 macrophage polarization and its potential contribution to neCRSwNP development.

Osteosarcoma stem cells resist chemotherapy by maintaining mitochondrial dynamic stability via DRP1.

Osteosarcoma malignancy exhibits significant heterogeneity, comprising both osteosarcoma stem cells (OSCs) and non‑OSCs. OSCs demonstrate increased resistance to chemotherapy due to their distinctive cellular and molecular characteristics. Alterations in mitochondrial morphology and homeostasis may enhance chemoresistance by modulating metabolic and regulatory processes.

Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies.

Background: Fetal structural anomalies are detected by ultrasound in approximately 3 % of pregnancies. Numerous genetic diagnostic strategies have been widely applied to identify the genetic causes of prenatal abnormalities. We aimed to assess the value of simultaneous copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) in diagnosing fetuses with structural anomalies.

SIRT1: a novel regulator in colorectal cancer.

The class-III histone deacetylase SIRT1 is the most extensively investigated sirtuin deacetylase. It is resistant to the broad deacetylase inhibitor trichostatin A and depends on oxidized nicotinamide adenine nucleotide (NAD). SIRT1 plays a crucial role in the tumorigenesis of numerous types of cancers, including colorectal cancer (CRC).

Increased FGF2 expression promotes immune cell infiltration and correlates with an unfavorable prognosis in thyroid cancer.

To delve into the expression and functions of FGF2 in patient with thyroid cancer (THCA), we conducted a systematic analysis of the association of FGF2 with immune cell infiltration, and prognosis in THCA patients. The transcription and protein levels, methylation, and biological properties of FGF2 were examined, along with its correlation with prognosis and immune cell infiltration in THCA patients using online databases UALCAN, Human Protein Atlas, Kaplan-Meier Plotter, DNMIVD, cBioPortal, GEPIA, Metascape, Linkedomics and TIMER. Clinical samples were collected for Western blot analyses.

Atmospheric wet and dry phosphorus deposition in Lake Erhai, China.

Lake Erhai is a potentially phosphorus (P)-limited lake and its water quality may have been affected by atmospheric P deposition. However, there have been few studies on atmospheric P deposition in this lake. In this study, we established five wet deposition monitoring sites and two dry deposition monitoring sites around Lake Erhai to quantify the wet and dry deposition of total phosphorus (TP), including dissolved inorganic phosphorus (DIP), dissolved organic phosphorus (DOP) and particulate phosphorus (PP) from July 2022 to June 2023.

A DEA game cross-efficiency based improved method for measuring urban carbon emission efficiency in China.

An accurate evaluation of carbon emission efficiency (CEE) at the city level can provide guidelines for understanding low carbon performance, which is crucial to achieving dual carbon targets. Existing CEE studies focused on national, industrial, and provincial scales while neglecting the city level and failing to consider competing relationships among decision-making units in their measurement models. To fill these gaps, this paper introduces the data envelopment analysis game cross-efficiency model (DEA-GCE) to measure urban CEE performance and compares it with the traditional Super-SBM model using the data from 283 Chinese cities between 2006 and 2019.

Identification of Pyroptosis-Related Genes Regulating the Progression of Chronic Rhinosinusitis with Nasal Polyps.

Introduction: Chronic rhinosinusitis with nasal polyps (CRSwNP) is an immunologic disease, and pyroptosis, an inflammation-based cellular death, strictly modulates CRSwNP pathology, whereas the pyroptosis genes and mechanisms involved in CRSwNP remain unclear. Herein, we explored disease biomarkers and potential therapeutic targets for pyroptosis and immune regulation in CRSwNP using bioinformatics analysis and tissue-based verification.

Methods: We retrieved the transcriptional profiles of the high-throughput dataset GSE136825 from the Gene Expression Omnibus database, as well as 170 pyroptosis-related gene expressions from GeneCards.

Reduced Proliferative Capacity and Defense against Staphylococcus aureus in Human Nasal Mucosal Epithelium Lacking ZNF365.

Introduction: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a common chronic inflammatory disease of the nose characterized by barrier disruption and environmental susceptibility, and the deletion of ZNF365 may be a factor inducing these manifestations. However, there is no study on the mechanism of action between CRSwNP and ZNF365. Therefore, this study focuses on the effect of the zinc finger protein ZNF365 on the proliferation of nasal mucosal epithelial cells and their defense against Staphylococcus aureus (S.

Transcriptome Analysis of White- and Red-Fleshed Apple Fruits Uncovered Novel Genes Related to the Regulation of Anthocyanin Biosynthesis.

The red flesh coloration of apples is a result of a biochemical pathway involved in the biosynthesis of anthocyanins and anthocyanidins. Based on apple genome analysis, a high number of regulatory genes, mainly transcription factors such as MYB, which are components of regulatory complex MYB-bHLH-WD40, and several structural genes (, , , , , , , ) involved in anthocyanin biosynthesis, have been identified. In this study, we investigated novel genes related to the red-flesh apple phenotype.

Two Novel α-Thalassemia Mutations CD 39 -C [Thr > Pro] and CD 109 ACC > CCC [Thr > Pro] Identified in Two Chinese Families: A Case Report.

We reported the identification of two rare α-thalassemia silent carriers with novel mutations of CD 39 -C [Thr > Pro] (: c.114del; p.Thr39Profs*11) and CD 109 ACC > CCC [Thr > Pro] (: c.

Bioinformatics analysis of CUL2/4A/9 and its function in head and neck squamous cell carcinoma.

Introduction: Several previous studies have shown that differential expression of cullin (CUL) family proteins may be involved in mediation of the signal transduction pathways associated with cancer. However, the function of CULs is still unclear in head and neck squamous cell carcinoma (HNSCC).

Material And Methods: We used The Cancer Genome Atlas (TCGA) database, cBioPortal, Metascape, STRING, Cytoscape, Tumor Immune Estimation Resource (TIMER), Kaplan-Meier plotter, and Tumor Immune System Interaction Database (TISIDB) to access the expression of CULs and the possible correlation with the tumourigenesis, development, prognosis, immunity, and transcriptional level of CULs in HNSCC.

Exploring the effect of human capital on carbon emissions: evidences from 125 countries.

Human capital (HC) plays a crucial role in economic growth, and also has a considerable effect on environmental performance, including carbon emissions (CEs). Existing studies have drawn inconsistent conclusions on whether and how HC affects CEs, and most of them conduct case studies of a certain country or several countries with similar economic backgrounds. In order to accurately determine the effect and the influence mechanism of HC on CEs, this research conducted an empirical study by applying econometric method and the panel data of 125 countries over the period 2000-2019.

Multimolecular characteristics and role of BRCA1 interacting protein C-terminal helicase 1 (BRIP1) in human tumors: a pan-cancer analysis.

Background: The aberrant expression of BRIP1 was associated with several cancers; however, the panoramic picture of BRIP1 in human tumors remains unclear. This study aims to explore the pan-cancerous picture of the expression of BRIP1 across 33 human cancers.

Methods: Based on the data from TCGA and GTEx, a series of bioinformatic analyses were applied to systematically explore the genetic landscape and biologic function of BRIP1 in 33 human tumors.

A Effectiveness-and Efficiency-Based Improved Approach for Measuring Ecological Well-Being Performance in China.

Finding solutions to the challenges posed by China's urbanization is an urgent, pressing global concern. An effective approach for evaluating the ecological well-being performance (EWP) is a guideline for improvement. Most previous studies have focused on the evaluation of EWP efficiency without considering the effectiveness of the EWP, which may mislead the practice of improving the EWP.

The Role of Tumor Microenvironment in Regulating the Plasticity of Osteosarcoma Cells.

Osteosarcoma (OS) is a malignancy that is becoming increasingly common in adolescents. OS stem cells (OSCs) form a dynamic subset of OS cells that are responsible for malignant progression and chemoradiotherapy resistance. The unique properties of OSCs, including self-renewal, multilineage differentiation and metastatic potential, 149 depend closely on their tumor microenvironment.

Evaluation Method for Urban Public Service Carrying Capacity (UPSCC): A Qualitative-Quantitative Bi-Dimensional Perspective.

Urban Public Service Carrying Capacity plays an essential role in urban social and economic development. However, existing study has been focused on the evaluation of UPSCC from a quantitative perspective. It is necessary to evaluate UPSCC from a qualitative-quantitative bi-dimensional perspective.

[Analysis of metabolite differences in skin between Clapp's Favorite and its mutant Red Clapp's Favorite through non-targeted metabolomics].

Red Clapp's Favorite is the red mutation cultivar of the pear cultivar Clapp's Favorite. Fruit color is an important feature of pear fruits, with red skin generally attracting consumers. Anthocyanin, chlorophyll, and carotenoids are the most important pigments in the color formation of fruits.

Evaluating the Environmental Impact of Construction within the Industrialized Building Process: A Monetization and Building Information Modelling Approach.

Industrialization has been widely regarded as a sustainable construction method in terms of its environmental friendliness. However, existing studies mainly consider the single impact of greenhouse gas emissions or material consumption in the construction process of industrialized buildings, and pay less attention to ecological pollution and community interest, which leads to an insufficient understanding. There is an urgent need to systematically carry out accurate assessment of comprehensive construction environmental impact within industrialized building processes.