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StTCTP Positively Regulates StSN2 to Enhance Drought Stress Tolerance in Potato by Scavenging Reactive Oxygen Species.
IF 5.6 2区 生物学
International Journal of Molecular Sciences Pub Date : 2025-03-20 DOI: 10.3390/ijms26062796
Shifeng Liu, Feng Zhang, Haojie Feng, Xiyao Wang, Qiang Wang, Xianjun Lai, Lang Yan
{"title":"StTCTP Positively Regulates <i>StSN2</i> to Enhance Drought Stress Tolerance in Potato by Scavenging Reactive Oxygen Species.","authors":"Shifeng Liu, Feng Zhang, Haojie Feng, Xiyao Wang, Qiang Wang, Xianjun Lai, Lang Yan","doi":"10.3390/ijms26062796","DOIUrl":"10.3390/ijms26062796","url":null,"abstract":"<p><p>Drought is a negative agronomic effect that can lead to an increase in reactive oxygen species (ROS) levels. Excessive drought can severely alter cell membrane fluidity and permeability, significantly reducing cell viability. The <i>Gibberellic acid-stimulated Arabidopsis</i> (Snakin/GASA) gene family has an important role as antioxidants in inhibiting the accumulation of ROS and improving crop drought resistance. However, the regulatory mechanism of potato <i>StSnakin-2</i> (StSN2) in response to drought, along with how <i>StSN2</i> expression is regulated, is not well understood. In this study, we found that <i>StSN2</i> was induced by drought. Overexpression of <i>StSN2</i> significantly increased drought tolerance, whereas silencing <i>StSN2</i> increased sensitivity to drought. Overexpression of <i>StSN2</i> resulted in higher antioxidant enzyme (superoxide dismutase (SOD), catalase (CAT), and peroxidase (POD)) activity, and lowered hydrogen peroxide (H<sub>2</sub>O<sub>2</sub>) and malondialdehyde (MDA) accumulation during drought stress. Also, overexpression of <i>StSN2</i> increased the relative water content (RWC) of leaves and reduced the water loss in leaves. We screened the upstream regulatory protein translation-controlled tumor protein (StTCTP) of <i>StSN2</i> through DNA pull-down combined with mass spectrometry. Yeast one-hybrid (YIH), electrophoretic mobility shift assay (EMSA), and luciferase reporting assay (LUC) indicated that StTCTP binds the <i>StSN2</i> promoter. Like <i>StSN2</i>, <i>StTCTP</i> was highly expressed in response to drought. Overexpression of <i>StTCTP</i> increased the photosynthetic rate and CAT enzyme activity, and lowered H<sub>2</sub>O<sub>2</sub> and MDA accumulation during drought. Meanwhile, overexpression of <i>StTCTP</i> increased leaf RWC and reduced water loss. Our research strongly suggested that <i>StSN2</i> effectively cleared ROS and significantly boosted the drought resistance of potatoes. Furthermore, as a transcriptional activator of <i>StSN2</i>, <i>StTCTP</i>, much like <i>StSN2</i>, also enhanced the potato's drought tolerance. The results provided a foundation for the further study of <i>StSN2</i> regulatory mechanisms under drought stress.</p>","PeriodicalId":14156,"journal":{"name":"International Journal of Molecular Sciences","volume":"26 6","pages":""},"PeriodicalIF":5.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143719284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SurvDB: Systematic Identification of Potential Prognostic Biomarkers in 33 Cancer Types.
IF 5.6 2区 生物学
International Journal of Molecular Sciences Pub Date : 2025-03-20 DOI: 10.3390/ijms26062806
Zejun Wu, Congcong Min, Wen Cao, Feiyang Xue, Xiaohong Wu, Yanbo Yang, Jianye Yang, Xiaohui Niu, Jing Gong
{"title":"SurvDB: Systematic Identification of Potential Prognostic Biomarkers in 33 Cancer Types.","authors":"Zejun Wu, Congcong Min, Wen Cao, Feiyang Xue, Xiaohong Wu, Yanbo Yang, Jianye Yang, Xiaohui Niu, Jing Gong","doi":"10.3390/ijms26062806","DOIUrl":"10.3390/ijms26062806","url":null,"abstract":"<p><p>The identification of cancer prognostic biomarkers is crucial for predicting disease progression, optimizing personalized therapies, and improving patient survival. Molecular biomarkers are increasingly being identified for cancer prognosis estimation. However, existing studies and databases often focus on single-type molecular biomarkers, deficient in comprehensive multi-omics data integration, which constrains the comprehensive exploration of biomarkers and underlying mechanisms. To fill this gap, we conducted a systematic prognostic analysis using over 10,000 samples across 33 cancer types from The Cancer Genome Atlas (TCGA). Our study integrated nine types of molecular biomarker-related data: single-nucleotide polymorphism (SNP), copy number variation (CNV), alternative splicing (AS), alternative polyadenylation (APA), coding gene expression, DNA methylation, lncRNA expression, miRNA expression, and protein expression. Using log-rank tests, univariate Cox regression (uni-Cox), and multivariate Cox regression (multi-Cox), we evaluated potential biomarkers associated with four clinical outcome endpoints: overall survival (OS), disease-specific survival (DSS), disease-free interval (DFI), and progression-free interval (PFI). As a result, we identified 4,498,523 molecular biomarkers significantly associated with cancer prognosis. Finally, we developed SurvDB, an interactive online database for data retrieval, visualization, and download, providing a comprehensive resource for biomarker discovery and precision oncology research.</p>","PeriodicalId":14156,"journal":{"name":"International Journal of Molecular Sciences","volume":"26 6","pages":""},"PeriodicalIF":5.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143719294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Polydatin Alleviates Cyclophosphamide-Induced Mouse Immunosuppression by Promoting Splenic Lymphocyte Proliferation and Thymic T Cell Development and Differentiation.
IF 5.6 2区 生物学
International Journal of Molecular Sciences Pub Date : 2025-03-20 DOI: 10.3390/ijms26062800
Na Sun, Huimin Yan, Xiuping Liu, Xingdi Xu, Wei Zhao, Jing Zhang, Meng Wang, Yuxuan Liu, Lin Miao
{"title":"Polydatin Alleviates Cyclophosphamide-Induced Mouse Immunosuppression by Promoting Splenic Lymphocyte Proliferation and Thymic T Cell Development and Differentiation.","authors":"Na Sun, Huimin Yan, Xiuping Liu, Xingdi Xu, Wei Zhao, Jing Zhang, Meng Wang, Yuxuan Liu, Lin Miao","doi":"10.3390/ijms26062800","DOIUrl":"10.3390/ijms26062800","url":null,"abstract":"<p><p>Immunosuppression increases disease risk, and the natural compound polydatin (PD) has been reported to modulate immune-related disorders. In cyclophosphamide-induced immunosuppressed mice, PD was evaluated for its immunomodulatory effects. Immune organ indices were measured, while H&E staining and ELISA assessed spleen pathology and serum cytokine levels. The proliferation of splenic lymphocytes, both total and subpopulation, was determined using concanavalin A or lipopolysaccharide stimulation, with flow cytometry analyzing peripheral blood and splenic lymphocytes, thymic T cell subtypes, cell cycling, and bromodeoxyuridine incorporation. Western blotting was used to assess Ki67, PCNA expression, and MAPK activation. PD significantly alleviated cyclophosphamide-induced reductions in spleen and thymus indices, improved the organization of red and white pulp in the spleen, and restored TNF-α and IFN-γ levels. It reversed cyclophosphamide-induced cell cycle arrest, characterized by increased PCNA and decreased Ki67, and corrected the diminished numbers of B and T cells and the reduced CD4<sup>+</sup>/CD8<sup>+</sup> ratio in the thymus. In vitro, PD directly promoted splenic lymphocyte proliferation and cell cycling via MAPK activation. Overall, our findings demonstrated that PD alleviated mouse immunosuppression by activating splenic lymphocyte proliferation and re-organizing thymic T cell development and differentiation.</p>","PeriodicalId":14156,"journal":{"name":"International Journal of Molecular Sciences","volume":"26 6","pages":""},"PeriodicalIF":5.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143719205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Role of Rapid Curing on the Interrelationship Between Temperature Rise, Light Transmission, and Polymerisation Kinetics of Bulk-Fill Composites.
IF 5.6 2区 生物学
International Journal of Molecular Sciences Pub Date : 2025-03-20 DOI: 10.3390/ijms26062803
Danijela Marovic, Matej Par, Paulina Daničić, Ana Marošević, Gloria Bojo, Marta Alerić, Svenia Antić, Krunoslav Puljić, Ana Badovinac, Adrian C Shortall, Zrinka Tarle
{"title":"The Role of Rapid Curing on the Interrelationship Between Temperature Rise, Light Transmission, and Polymerisation Kinetics of Bulk-Fill Composites.","authors":"Danijela Marovic, Matej Par, Paulina Daničić, Ana Marošević, Gloria Bojo, Marta Alerić, Svenia Antić, Krunoslav Puljić, Ana Badovinac, Adrian C Shortall, Zrinka Tarle","doi":"10.3390/ijms26062803","DOIUrl":"10.3390/ijms26062803","url":null,"abstract":"<p><p>The first seconds of light curing are crucial for the development of most properties of dental composites, especially for the 3s high-irradiance curing. This study investigated the influence of rapid high-irradiance curing on temporal development of temperature, transmittance and conversion of bulk-fill composites. Four materials were tested: Filtek One (FO), Tetric PowerFill (PFill), Tetric PowerFlow (PFlow) and SDR flow+ (SDR+) and cured with three curing units (LCU): Valo Cordles, Bluephase PowerCure and Translux Wave in 3s (3 W/cm<sup>2</sup>), 10s (1 W/cm<sup>2</sup>) and 20s (1 W/cm<sup>2</sup>) curing protocols. Light transmittance was measured at 2 and 4 mm, while temperature rise and polymerisation kinetics were evaluated at 4 mm depth during 5 min. Both light transmittance and temperature rise were greatest for SDR+ > PFlow > PFill > FO. The 20s curing protocol resulted in the highest degree of conversion (DC) for all materials and LCUs, but also contributed to the greatest temperature rise. Rapid curing with the 3s protocol caused the lowest temperature rise and the shortest time to reach maximum temperature. The polymerisation and temperature kinetics were strongly dependent on the material. The DC of PFill was statistically similar for 3s, 10s or 20s curing with BPC. Rapid curing is only recommended for materials developed for this purpose.</p>","PeriodicalId":14156,"journal":{"name":"International Journal of Molecular Sciences","volume":"26 6","pages":""},"PeriodicalIF":5.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942995/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143719244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Folic Acid Alleviates Hydrogen Peroxide-Induced Oxidative Stress in Bovine Placental Trophoblast Cells by Regulating the NRF2/mTOR Signaling Pathway.
IF 5.6 2区 生物学
International Journal of Molecular Sciences Pub Date : 2025-03-20 DOI: 10.3390/ijms26062818
Liyuan Shi, Zhisheng Wang, Jianxin Xiao, Rui Hu, Huawei Zou, Junmei Wang, Ziqi Yue, Quanhui Peng, Yahui Jiang, Bai Xue, Lizhi Wang
{"title":"Folic Acid Alleviates Hydrogen Peroxide-Induced Oxidative Stress in Bovine Placental Trophoblast Cells by Regulating the NRF2/mTOR Signaling Pathway.","authors":"Liyuan Shi, Zhisheng Wang, Jianxin Xiao, Rui Hu, Huawei Zou, Junmei Wang, Ziqi Yue, Quanhui Peng, Yahui Jiang, Bai Xue, Lizhi Wang","doi":"10.3390/ijms26062818","DOIUrl":"10.3390/ijms26062818","url":null,"abstract":"<p><p>As one of the important components of placental structure, the integrity of placental trophoblast cells is crucial for placental function. When oxidative stress continues to act on placental trophoblast cells, it can cause changes in placental structure and function. Research has shown that folic acid (FA) has a certain alleviating effect on the functional damage of trophoblast cells caused by oxidative stress, but the mechanism of action is still unclear. Therefore, this study focuses on bovine placental trophoblast cells (BPTCs) to explore the effects and mechanisms by which FA regulates oxidative stress in cells, with the aim of providing a theoretical foundation for improving the reproductive performance of cows. The results show that, compared with the H<sub>2</sub>O<sub>2</sub> group, the FA+ H<sub>2</sub>O<sub>2</sub> group showed an increase in the cell proliferation index (PI), superoxide dismutase 2 (<i>SOD2</i>), glutathione peroxidase (<i>GSH-px</i>), and catalase (<i>CAT</i>) mRNA expression and total antioxidant capacity (T-AOC) of cells, while the content of reactive oxygen species (ROS) decreased. In addition, the mRNA expression of tight junction factors, nutrient transporters, placental functional factors, mammalian rapamycin (mTOR) and its downstream factors, and nuclear factor erythroid 2-related factor 2 (NRF2) and its downstream factors in the FA+ H<sub>2</sub>O<sub>2</sub> group increased, while the protein abundance of nuclear NRF2 decreased. After treatment with the inhibitor ML385, it was found that the protective effect of FA on H<sub>2</sub>O<sub>2</sub>-induced cellular oxidative damage was alleviated. These results indicate that FA can regulate the NRF2/mTOR signaling pathway, promote the expression of antioxidant factors, and alleviate the damage to the cell barrier and nutrient transport function in BPTCs caused by oxidative stress.</p>","PeriodicalId":14156,"journal":{"name":"International Journal of Molecular Sciences","volume":"26 6","pages":""},"PeriodicalIF":5.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An Emerging Perspective on the Role of Fascia in Complex Regional Pain Syndrome: A Narrative Review.
IF 5.6 2区 生物学
International Journal of Molecular Sciences Pub Date : 2025-03-20 DOI: 10.3390/ijms26062826
Carmelo Pirri, Nina Pirri, Lucia Petrelli, Caterina Fede, Raffaele De Caro, Carla Stecco
{"title":"An Emerging Perspective on the Role of Fascia in Complex Regional Pain Syndrome: A Narrative Review.","authors":"Carmelo Pirri, Nina Pirri, Lucia Petrelli, Caterina Fede, Raffaele De Caro, Carla Stecco","doi":"10.3390/ijms26062826","DOIUrl":"10.3390/ijms26062826","url":null,"abstract":"<p><p>Complex Regional Pain Syndrome (CRPS) is a debilitating pain disorder involving chronic inflammation, neural sensitization and autonomic dysfunction. Fascia, a highly innervated connective tissue, is increasingly recognized for its role in pain modulation, yet its contribution to CRPS remains underexplored. This narrative review synthesizes the current evidence on fascia's involvement in CRPS pathophysiology and potential therapeutic strategies. A literature search was conducted in PubMed, Scopus and Web of Science, selecting studies on fascia, CRPS, inflammation, oxidative stress and autonomic dysfunction, with emphasis on recent experimental, anatomical and clinical research. Fascia contributes to CRPS through neuroinflammation, fibrosis and autonomic dysregulation. Its rich innervation facilitates peripheral and central sensitization, while inflammatory mediators drive fibrosis, reducing elasticity and exacerbating pain. Autonomic dysfunction worsens hypoxia and oxidative stress, fueling chronic dysfunction. Advances in sonoelastography provide new insights, while fascial manipulation and targeted therapies show promise in early studies. Fascia plays a key role in CRPS pathophysiology, yet its clinical relevance remains underexplored. Future research integrating imaging, molecular profiling and clinical trials is needed to develop evidence-based fascia-targeted interventions, potentially improving CRPS diagnosis and treatment.</p>","PeriodicalId":14156,"journal":{"name":"International Journal of Molecular Sciences","volume":"26 6","pages":""},"PeriodicalIF":5.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718889","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of Different Intensities of Endurance Training on Neurotrophin Levels and Functional and Cognitive Outcomes in Post-Ischaemic Stroke Adults: A Randomised Clinical Trial.
IF 5.6 2区 生物学
International Journal of Molecular Sciences Pub Date : 2025-03-20 DOI: 10.3390/ijms26062810
Sara Górna, Tomasz Podgórski, Paweł Kleka, Katarzyna Domaszewska
{"title":"Effects of Different Intensities of Endurance Training on Neurotrophin Levels and Functional and Cognitive Outcomes in Post-Ischaemic Stroke Adults: A Randomised Clinical Trial.","authors":"Sara Górna, Tomasz Podgórski, Paweł Kleka, Katarzyna Domaszewska","doi":"10.3390/ijms26062810","DOIUrl":"10.3390/ijms26062810","url":null,"abstract":"<p><p>This study aimed to examine the effects of different intensities of endurance training combined with standard neurorehabilitation on selected blood biomarkers and physical outcomes of post-stroke individuals. We randomised patients with first-episode ischaemic stroke to an experimental group that received 4 × 45 min sessions of moderate-intensity continuous training (MICT) each week and 2 × 45 min of standard rehabilitation each day or to a control group that received 4 × 45 min sessions of low-intensity continuous training (LICT) each week and 2 × 45 min of standard rehabilitation each day. We measured the following outcomes at baseline and 3 weeks after the intervention: aerobic capacity; cognitive and motor function; and blood levels of brain-derived neurotrophic factor (BDNF), glial cell line-derived neurotrophic factor (GDNF), vascular endothelial growth factor A (VEGF-A), insulin-like growth factor-1 (IGF-1), and irisin. We included 52 patients with a mean age of 66.1 ± 8.0 years. After 3 weeks of rehabilitation, there was a clinically significant improvement in the Rivermead Motor Assessment-arm score in the MICT group. The study showed that after 3 weeks, an intervention combining MICT with standard neurorehabilitation was significantly more beneficial in improving aerobic capacity and arm motor function than an intervention combining LICT and standard neurorehabilitation.</p>","PeriodicalId":14156,"journal":{"name":"International Journal of Molecular Sciences","volume":"26 6","pages":""},"PeriodicalIF":5.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of Cysteine synthase (Cys) Gene Family in Tomato (Solanum lycopersicum) and Functional of SlCys5 in Cold Stress Tolerance.
IF 5.6 2区 生物学
International Journal of Molecular Sciences Pub Date : 2025-03-20 DOI: 10.3390/ijms26062801
Rui Lv, Yan Gao, Xueying Yang, Xin Li, Chengyu Zhu, Fulei Mo, Kuihua Li
{"title":"Identification of <i>Cysteine synthase</i> (<i>Cys</i>) Gene Family in Tomato (<i>Solanum lycopersicum</i>) and Functional of <i>SlCys5</i> in Cold Stress Tolerance.","authors":"Rui Lv, Yan Gao, Xueying Yang, Xin Li, Chengyu Zhu, Fulei Mo, Kuihua Li","doi":"10.3390/ijms26062801","DOIUrl":"10.3390/ijms26062801","url":null,"abstract":"<p><p>Sulfur is an intermediate element in plants. It plays an important role in the growth and development of plants. Plant roots absorb sulfate from their external environment and produce cysteine under the catalysis of cysteine synthase. Cysteine is a synthetic precursor of sulfur-containing metabolites and critical molecules including glutathione (GSH), methionine, vitamins, coenzymes, and antioxidants. It also plays a central role in plant stress resistance. In this study, we identified the <i>Cys</i> family genes in tomato and analyzed the expression of <i>SlCys</i> genes under cold stress. A bioinformatics analysis showed that the <i>SlCys</i> gene promoters were rich in <i>cis</i>-acting elements related to stress response. Transcriptome data analysis and qRT-PCR (real-time fluorescent quantitative polymerase chain reaction) experiments showed that <i>SlCys5</i> may be the key gene in the <i>Cys</i> gene family for cold tolerance in tomato. After cold stress treatment, the <i>SlCys5</i>-silenced tomato plants were more sensitive to cold stress, and wilting was more severe than in control plants. Thus, <i>SlCys5</i> is a positive regulator of cold tolerance in tomato. In this study, we elucidated the evolutionary pattern and functional differentiation of the <i>Cys</i> gene family in tomato, deepening our understanding of the regulatory mechanism of cold stress tolerance in plants.</p>","PeriodicalId":14156,"journal":{"name":"International Journal of Molecular Sciences","volume":"26 6","pages":""},"PeriodicalIF":5.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.
IF 5.6 2区 生物学
International Journal of Molecular Sciences Pub Date : 2025-03-20 DOI: 10.3390/ijms26062790
Jeerawan Klangjorhor, Natrujee Wiwattanadittakul, Thanapak Jaimalai, Patcharawadee Thongkumkoon, Pitiporn Noisagul, Ratchadaporn Khiaomai, Nutnicha Sirikaew, Nonthanan Moonsan, Arnat Pasena, Pathacha Suksakit, Pimpisa Teeyakasem, Parunya Chaiyawat, Maliwan Tengsujaritkul
{"title":"A Novel Homozygous Missense Variant of <i>PIGT</i> Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.","authors":"Jeerawan Klangjorhor, Natrujee Wiwattanadittakul, Thanapak Jaimalai, Patcharawadee Thongkumkoon, Pitiporn Noisagul, Ratchadaporn Khiaomai, Nutnicha Sirikaew, Nonthanan Moonsan, Arnat Pasena, Pathacha Suksakit, Pimpisa Teeyakasem, Parunya Chaiyawat, Maliwan Tengsujaritkul","doi":"10.3390/ijms26062790","DOIUrl":"10.3390/ijms26062790","url":null,"abstract":"<p><p>Phosphatidylinositol glycan class T (PIGT) is part of the glycosylphosphatidylinositol transamidase (GPI-TA) complex, crucial for various cell functions. Biallelic pathogenic variants in <i>PIGT</i> are associated with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), a rare neonatal hypotonia syndrome characterized by dysmorphic features and seizures. Diagnosing neonatal hypotonia, which has diverse congenital and acquired causes, is challenging, particularly in syndromic monogenic cases. Next-generation sequencing is essential for accurate diagnosis. This study reports a term newborn with hypotonia, dysmorphic features, seizures, and severe skeletal issues, including a humeral fracture at birth, consistent with MCAHS3. Trio whole exome sequencing (WES) analysis revealed a novel homozygous missense variant in <i>PIGT</i>, expanding the clinical spectrum of MCAHS3 and marking the first such case in the Thai population. The identified c.257A>G (p.His86Arg) variant manifests a severe MCAHS3 phenotype, as evidenced by reduced CD59 expression in western blot analysis, indicating impaired GPI-AP synthesis. Computational predictions suggest this mutation causes protein instability, potentially affecting GPI anchor attachment. While alkaline phosphatase (ALP), a GPI-AP crucial for skeletal mineralization, was elevated in this case, suggesting a late-stage GPI synthesis defect. The His86Arg mutation in PIGT may disrupt GPI-TA function, hindering proper protein attachment and leading to cleaved protein secretion. Further functional studies are needed to elucidate the impact of this mutation on PIGT function and MCAHS3 phenotypes.</p>","PeriodicalId":14156,"journal":{"name":"International Journal of Molecular Sciences","volume":"26 6","pages":""},"PeriodicalIF":5.6,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11943126/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143718744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of the Technical Snow Production Process on Bacterial Community Composition, Antibacterial Resistance Genes, and Antibiotic Input-A Dual Effect of the Inevitable.
IF 5.6 2区 生物学
International Journal of Molecular Sciences Pub Date : 2025-03-19 DOI: 10.3390/ijms26062771
Klaudia Stankiewicz, Klaudia Bulanda, Justyna Prajsnar, Anna Lenart-Boroń
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