PeerJPub Date : 2025-01-20eCollection Date: 2025-01-01DOI: 10.7717/peerj.18567
Maria Gridina, Polina Orlova, Oleg Serov
{"title":"Targeted correction of megabase-scale <i>CNTN6</i> duplication in induced pluripotent stem cells and impacts on gene expression.","authors":"Maria Gridina, Polina Orlova, Oleg Serov","doi":"10.7717/peerj.18567","DOIUrl":"10.7717/peerj.18567","url":null,"abstract":"<p><p>Copy number variations of the human <i>CNTN6</i> gene, resulting from megabase-scale microdeletions or microduplications in the 3p26.3 region, are frequently implicated in neurodevelopmental disorders such as intellectual disability and developmental delay. However, duplication of the full-length human <i>CNTN6</i> gene presents with variable penetrance, resulting in phenotypes that range from neurodevelopmental disorders to no visible pathologies, even within the same family. Previously, we obtained a set of induced pluripotent stem cell lines derived from a patient with a <i>CNTN6</i> gene duplication and from two healthy donors. Our findings demonstrated that <i>CNTN6</i> expression in neurons carrying the duplication was significantly reduced. Additionally, the expression from the <i>CNTN6</i> duplicated allele was markedly lower compared to the wild-type allele. Here, we first introduce a system for correcting megabase-scale duplications in induced pluripotent stem cells and secondly analyze the impact of this correction on <i>CNTN6</i> gene expression. We showed that the deletion of one copy of the <i>CNTN6</i> duplication did not affect the expression levels of the remaining allele in the neuronal cells.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e18567"},"PeriodicalIF":2.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PeerJPub Date : 2025-01-20eCollection Date: 2025-01-01DOI: 10.7717/peerj.18844
Mst Nahid Farha, Flossie Brown, Lucas A Cernusak, Stephen Sitch, Alexander W Cheesman
{"title":"Examining ozone effects on the tropical C<sub>4</sub> crop <i>Sorghum bicolor</i>.","authors":"Mst Nahid Farha, Flossie Brown, Lucas A Cernusak, Stephen Sitch, Alexander W Cheesman","doi":"10.7717/peerj.18844","DOIUrl":"10.7717/peerj.18844","url":null,"abstract":"<p><p>Ozone (O<sub>3</sub>), a major air pollutant, can negatively impact plant growth and yield. While O<sub>3</sub> impacts have been widely documented in crops such as wheat and soybean, few studies have looked at the effects of O<sub>3</sub> on sorghum, a C<sub>4</sub> plant and the fifth most important cereal crop worldwide. We exposed grain sorghum (<i>Sorghum bicolor</i> cv. HAT150843) to a range of O<sub>3</sub> concentrations (daytime mean O<sub>3</sub> concentrations ranged between 20 and 97 ppb) in open-top chambers, and examined how whole plant and leaf morphological traits varied in response to O<sub>3</sub> exposure. Results showed no significant impact of realistic O<sub>3</sub> exposure on whole plant biomass and its partitioning in sorghum. These findings suggest that sorghum is generally resistant to O<sub>3</sub> and should be considered as a favourable crop in O<sub>3</sub> polluted regions, while acknowledging further research is needed to understand the mechanistic basis of O<sub>3</sub> tolerance in sorghum.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e18844"},"PeriodicalIF":2.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PeerJPub Date : 2025-01-20eCollection Date: 2025-01-01DOI: 10.7717/peerj.18835
Qian Zhang, Min Zhen, Xiaochen Wang, FengXiang Zhao, Yang Dong, Xiaoya Wang, Shengtao Gao, Jinfeng Wang, Wenyu Shi, Yifei Zhang
{"title":"Antibiotic exposure enriches streptococci carrying resistance genes in periodontitis plaque biofilms.","authors":"Qian Zhang, Min Zhen, Xiaochen Wang, FengXiang Zhao, Yang Dong, Xiaoya Wang, Shengtao Gao, Jinfeng Wang, Wenyu Shi, Yifei Zhang","doi":"10.7717/peerj.18835","DOIUrl":"10.7717/peerj.18835","url":null,"abstract":"<p><strong>Background: </strong>Periodontitis is not always satisfactorily treated with conventional scaling and root planing, and adjunctive use of antibiotics is required in clinical practice. Therefore, it is important for clinicians to understand the diversity and the antibiotic resistance of subgingival microbiota when exposed to different antibiotics.</p><p><strong>Materials and methods: </strong>In this study, subgingival plaques were collected from 10 periodontitis patients and 11 periodontally healthy volunteers, and their microbiota response to selective pressure of four antibiotics (amoxicillin, metronidazole, clindamycin, and tetracycline) were evaluated through 16S rRNA gene amplicon and metagenomic sequencing analysis. Additionally, sensitive and resistant strains were isolated and cultured <i>in vitro</i> for resistance evaluation.</p><p><strong>Results: </strong>Cultivation of subgingival microbiota revealed the oral microbiota from periodontitis patients were more resistant to antibiotics than that of healthy. Significant differences were also observed for the microbial community between with and without antibiotics (especially amoxicillin and tetracycline) treated in periodontitis group.</p><p><strong>Conclusion: </strong>Overall, after the two antibiotics (amoxicillin and tetracycline) exposed, the oral subgingival microbiota in periodontitis patients exhibited different diversity and composition. <i>Streptococcus</i> may account for oral biofilm-specific antibiotic resistance in periodontitis. This provides information for personalized treatment of periodontitis.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e18835"},"PeriodicalIF":2.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029198","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PeerJPub Date : 2025-01-20eCollection Date: 2025-01-01DOI: 10.7717/peerj.18801
Maria de Lurdes Godinho de Matos, Mafalda Pinto, Ana Gonçalves, Sule Canberk, Maria João Martins Bugalho, Paula Soares
{"title":"Insights in biomarkers complexity and routine clinical practice for the diagnosis of thyroid nodules and cancer.","authors":"Maria de Lurdes Godinho de Matos, Mafalda Pinto, Ana Gonçalves, Sule Canberk, Maria João Martins Bugalho, Paula Soares","doi":"10.7717/peerj.18801","DOIUrl":"10.7717/peerj.18801","url":null,"abstract":"<p><strong>Background: </strong>The differential diagnosis between benign and malignant thyroid nodules continues to be a major challenge in clinical practice. The rising incidence of thyroid neoplasm and the low incidence of aggressive thyroid carcinoma, urges the exploration of strategies to improve the diagnostic accuracy in a pre-surgical phase, particularly for indeterminate nodules, and to prevent unnecessary surgeries. Only in 2022, the 5th WHO Classification of Endocrine and Neuroendocrine Tumors, and in 2023, the 3rd Bethesda System for Reporting Thyroid Cytopathology and the European Thyroid Association included biomarkers in their guidelines. In this review, we discuss the integration of biomarkers within the routine clinical practice for diagnosis of thyroid nodules and cancer.</p><p><strong>Methodology: </strong>The literature search for this review was performed through Pub Med, Science Direct, and Google Scholar. We selected 156 publications with significant contributions to this topic, with the majority (86, or 55.1%) published between January 2019 and March 2024, including some publications from our group during those periods. The inclusion criteria were based on articles published in recognized scientific journals with high contributions to the proposed topic. We excluded articles not emphasizing molecular biomarkers in refine the pre-surgical diagnosis of thyroid nodules.</p><p><strong>Results: </strong>We explored genetic biomarkers, considering the division of thyroid neoplasm into <i>BRAF</i>-like tumor and <i>RAS</i>-like tumor. The specificity of <i>BRAF</i> mutation in the diagnosis of papillary thyroid carcinoma (PTC) is nearly 100% but its sensitivity is below 35%. <i>RAS</i> mutations are found in a broad spectrum of thyroid neoplasm, from benign to malignant follicular-patterned tumors, but do not increase the ability to distinguish benign from malignant lesions. The overexpression of miRNAs is correlated with tumor aggressiveness, high tumor node metastasis (TMN) stage, and recurrence, representing a real signature of thyroid cancer, particularly PTC. In addition, associations between the expression levels of selected miRNAs and the presence of specific genetic mutations have been related with aggressiveness and worse prognosis.</p><p><strong>Conclusions: </strong>The knowledge of genetic and molecular biomarkers has achieved a high level of complexity, and the difficulties related to its applicability determine that their implementation in clinical practice is not yet a reality. More studies with larger series are needed to optimize their use in routine practice. Additionally, the improvement of new techniques, such as liquid biopsy and/or artificial intelligence, may be the future for a better understanding of molecular biomarkers in thyroid nodular disease.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e18801"},"PeriodicalIF":2.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PeerJPub Date : 2025-01-20eCollection Date: 2025-01-01DOI: 10.7717/peerj.18836
Mustafa Ahmet Akçalı, Semih Çınar, Kemal Abid Tekin, Recep Murat Mert, Sena Erduhan, Ertuğ Dinçer, Yusuf Altunöz, Arif Aksu, Esra Akçalı
{"title":"Evaluation of urinary density as a biomarker for the diagnosis of acute heart failure.","authors":"Mustafa Ahmet Akçalı, Semih Çınar, Kemal Abid Tekin, Recep Murat Mert, Sena Erduhan, Ertuğ Dinçer, Yusuf Altunöz, Arif Aksu, Esra Akçalı","doi":"10.7717/peerj.18836","DOIUrl":"10.7717/peerj.18836","url":null,"abstract":"<p><strong>Background: </strong>Heart failure (HF) has become a public healthcare concern with significant costs to countries because of the aging world population. Acute heart failure (AHF) is a common condition faced frequently in emergency departments, and patients often present to hospitals with complaints of breathlessness. The patient must be evaluated with anamnesis, physical examination, blood, and imaging results to diagnose AHF. Brain natriuretic peptide (BNP) is a widely accepted biomarker for the diagnosis of HF.</p><p><strong>Methods: </strong>The files of the patients who applied to the emergency department with complaints of breathlessness were scanned, and BNP and urinary density (UD) levels were evaluated for the diagnosis of HF in patients.</p><p><strong>Results: </strong>The results support that BNP is an effective biomarker in AHF, as is widely accepted. When the correlation between BNP and UD measurements was examined in the present study, a negative correlation was detected between the parameters. The results also suggested that low UD values may help diagnose AHF.</p><p><strong>Conclusion: </strong>If similar results are obtained in prospective multicenter studies with the participation of more patients, UD value can be used as a biomarker for the diagnosis of AHF.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e18836"},"PeriodicalIF":2.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029140","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PeerJPub Date : 2025-01-20eCollection Date: 2025-01-01DOI: 10.7717/peerj.18474
Neal Kolonay, Cassandra N Glaspie
{"title":"Photogrammetric determination of movement speed of invasive Indo-Pacific lionfish in the Florida Keys.","authors":"Neal Kolonay, Cassandra N Glaspie","doi":"10.7717/peerj.18474","DOIUrl":"10.7717/peerj.18474","url":null,"abstract":"<p><p>As a key determinant of how efficiently lionfish (<i>Pterois</i> sp.) locate and capture prey, swimming speed plays a crucial role in shaping the predator-prey interactions and broader ecological dynamics within the invaded ecosystems. Swimming speed on a small temporal and spatial scale is difficult to measure because of the need for precise measurements of both distance and duration of the behavior. Using photogrammetry by way of stereo-camera setups is ideal for analyzing the minutiae of lionfish behaviors because it can include the benefits of remote video traps coupled with precise measurements of movements in three-dimensional space and time. The primary objective of this study was to identify and characterize lionfish behavior associated with different movement speeds, and then to quantify small-scale swimming speeds of lionfish associated with those behaviors. Swimming speeds were classified under three different observed behaviors: relaxed swimming, traverse swimming, and striking at prey. The differences between these behaviors were primarily distinguished based on body and fin positioning, as well as the apparent intent of the motion if any was evident. The mean lionfish swimming speed from stereoscopic camera footage was 44.75 mm s<sup>-1</sup> for relaxed swimming, 138.99 mm s<sup>-1</sup> for traverse swimming, and 625.44 mm s<sup>-1</sup> for striking at prey. Swimming speed can be used to quantify how much habitat area a lionfish may cover in a day, and therefore the amount of prey that may be encountered by a predator. Lionfish feeding success under different environmental conditions could be an important factor in understanding their survival and growth in areas where they are found.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e18474"},"PeriodicalIF":2.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756363/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PeerJPub Date : 2025-01-20eCollection Date: 2025-01-01DOI: 10.7717/peerj.18858
Afroza Akter, Hannah Teddleton, Marc Caldwell, Gina Pighetti, Phillip R Myer, Madison T Henniger, Liesel Schneider, Elizabeth Shepherd
{"title":"Prevalence of nasopharyngeal bacteria during naturally occurring bovine respiratory disease in commercial stocker cattle.","authors":"Afroza Akter, Hannah Teddleton, Marc Caldwell, Gina Pighetti, Phillip R Myer, Madison T Henniger, Liesel Schneider, Elizabeth Shepherd","doi":"10.7717/peerj.18858","DOIUrl":"10.7717/peerj.18858","url":null,"abstract":"<p><p>Bovine respiratory disease (BRD) is one of the most common economic and health challenges to the beef cattle industry. Prophylactic use of antimicrobial drugs can alter the microbial communities in the respiratory tract. Considering that the bovine upper respiratory tract microbiome has been associated with generalized health, understanding the microenvironment that influences this microbiome may provide insights into the pathogenesis of BRD. This study aimed to determine temporal variation in nasopharyngeal (NP) microbiome in naturally occurring BRD in newly received stocker calves. Mixed breed steers (<i>n</i> = 40) were purchased from an auction market and housed in a commercial stocker farm. Clinical signs were used to identify BRD affected animals, and calves were categorized based on the number of treatments (NumTrt) received (0, 1, 2). On days 0, 7, 14, and 21, NP samples were collected, and subsequent DNA were isolated and sequenced. After sequencing, 16S rRNA V4 gene was amplified and utilized for NP bacterial determination. The difference in relative abundance based on day and NumTrt was measured using repeated measures ANOVA (PROC GLIMMIX; SAS 9.4). Firmicutes, Proteobacteria, Actinobacteriota, Bacteroidota, and Verrucomicrobiota were the top phyla and <i>Mycoplasma</i>, <i>Histophilus</i>, <i>Geobacillus</i>, <i>Saccharococcus</i>, <i>Lactobacillus</i>, and <i>Pasteurella</i> were the top genera. In healthy calves, the relative abundance of <i>Mycoplasma</i> differed by day (<i>P</i> = 0.01), whereas on day 7, calves had five times greater abundance compared to day 0 (d 0: 0.06 ± 0.05; d 7: 0.30 ± 0.05). No differences were observed in the alpha diversity matrices based on day or NumTrt (<i>P</i> > 0.05). Results of this study suggest compositional variations in NP microbial populations occur during disease conditions.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e18858"},"PeriodicalIF":2.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756368/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PeerJPub Date : 2025-01-20eCollection Date: 2025-01-01DOI: 10.7717/peerj.18743
Hsiu-Chin Huang, Ya-Tzu Kung, Ruey-Rong Huang, Wui-Chiu Mui, Yu-Chien Su
{"title":"Assessment of physical education teachers' use of distance teaching behavior under the influence of the COVID-19 pandemic.","authors":"Hsiu-Chin Huang, Ya-Tzu Kung, Ruey-Rong Huang, Wui-Chiu Mui, Yu-Chien Su","doi":"10.7717/peerj.18743","DOIUrl":"10.7717/peerj.18743","url":null,"abstract":"<p><strong>Background: </strong>For many physical education teachers, being suddenly forced to switch from traditional face-to-face teaching to online teaching without adequate mental preparation posed numerous challenges and difficulties. Therefore, the purpose of this study is to validate the use of distance teaching behavior models for physical education teachers under the influence of the COVID-19 pandemic.</p><p><strong>Method: </strong>The unified theory of acceptance and use of technology (UTAUT) model was employed to explore the use intention and use behavior of distance teaching. The model contains four independent variables: performance expectancy (PE), effort expectancy (EE), social influence (SI), and facilitating conditions (FC), two dependent variables: behavioral intention (BI) and use behavior (UB) and three moderating variables: gender, age, and experience. A total of 400 questionnaires were distributed to elementary and junior high school physical education teachers with 364 valid responses. Partial least squares structural equation modeling (PLS-SEM) was used to test the relationships among variables.</p><p><strong>Results: </strong>The results found PE, EE and SI had significant influences on BI and FC and BI had significant influences on UB. Experience had moderating effects among SI and BI.</p><p><strong>Conclusions: </strong>Based on the results, recommendations for physical education teachers and schools are proposed. Furthermore, research limitations and future directions are discussed.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e18743"},"PeriodicalIF":2.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
PeerJPub Date : 2025-01-20eCollection Date: 2025-01-01DOI: 10.7717/peerj.18508
João Locke Ferreira de Araújo, Átila Duque Rossi, Jessica Maciel de Almeida, Hugo José Alves, Isabela de Carvalho Leitão, Renata Eliane de Ávila, Anna Carla Pinto Castiñeiras, Jéssica da Silva Oliveira, Rafael Mello Galliez, Marlon Daniel Lima Tonini, Débora Souza Faffe, Shana Priscila Coutinho Barroso Barroso, Gustavo Gomes Resende, Cássia Cristina Alves Gonçalves, Terezinha Marta Pereira Pinto Castiñeiras, Amilcar Tanuri, Mauro Martins Teixeira, Renato Santana Aguiar, Cynthia Chester Cardoso, Renan Pedra de Souza
{"title":"Genetic determinants of COVID-19 severity and mortality: <i>ACE1</i> Alu 287 bp polymorphism and <i>ACE1</i>, <i>ACE2</i>, <i>TMPRSS2</i> expression in hospitalized patients.","authors":"João Locke Ferreira de Araújo, Átila Duque Rossi, Jessica Maciel de Almeida, Hugo José Alves, Isabela de Carvalho Leitão, Renata Eliane de Ávila, Anna Carla Pinto Castiñeiras, Jéssica da Silva Oliveira, Rafael Mello Galliez, Marlon Daniel Lima Tonini, Débora Souza Faffe, Shana Priscila Coutinho Barroso Barroso, Gustavo Gomes Resende, Cássia Cristina Alves Gonçalves, Terezinha Marta Pereira Pinto Castiñeiras, Amilcar Tanuri, Mauro Martins Teixeira, Renato Santana Aguiar, Cynthia Chester Cardoso, Renan Pedra de Souza","doi":"10.7717/peerj.18508","DOIUrl":"10.7717/peerj.18508","url":null,"abstract":"<p><strong>Background: </strong>The angiotensin-converting enzyme 2 (ACE2) and the transmembrane serine protease 2 (TMPRSS2) are central human molecules in the SARS-CoV-2 virus-host interaction. Evidence indicates that <i>ACE1</i> may influence <i>ACE2</i> expression. This study aims to determine whether ACE1, ACE2, and TMPRSS2 mRNA expression levels, along with the ACE1 Alu 287 bp polymorphism (rs4646994), contribute to the severity and mortality of COVID-19.</p><p><strong>Methods: </strong>Swabs were collected in two Brazilian cities in 2020: Belo Horizonte (<i>n</i> = 134) and Rio de Janeiro (<i>n</i> = 41). A swab of mild patients in Rio de Janeiro who were not hospitalized (<i>n</i> = 172) was also collected. All analyzed biological material was obtained from residual diagnostic samples in 2020, prior to the emergence of SARS-CoV-2 variants of concern. <i>ACE1</i>, <i>ACE2</i>, <i>TMPRSS2,</i> and <i>B2M</i> (reference gene) expression levels were evaluated in 40 cycles of quantitative PCR. <i>ACE1</i> Alu 287 bp polymorphism was genotyped using the FastStart Universal SYBR Green Master kit.</p><p><strong>Results: </strong>The median age differed between clinical sites (<i>p</i> = 0.016), but no difference in median days of hospitalization was observed (<i>p</i> = 0.329). Age was associated with severity (<i>p</i> = 0.014) and mortality (<i>p</i> = 0.014) in the Belo Horizonte cohort. No alteration in <i>ACE1</i>, <i>ACE2</i> and <i>TMPRSS2</i> expression was associated with severity or mortality. <i>ACE1</i> polymorphism rs4646994 did not influence the likelihood of either outcome. A meta-analysis including available data from the literature showed significant effects: the D-allele conferred risk (OR = 1.39; 95% CI [1.12-1.72]).</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e18508"},"PeriodicalIF":2.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Transcription factor specificity protein (SP) family in renal physiology and diseases.","authors":"Wei Zhou, Jiaxi Fang, Qingqing Jia, Hanyan Meng, Fei Liu, Jianhua Mao","doi":"10.7717/peerj.18820","DOIUrl":"10.7717/peerj.18820","url":null,"abstract":"<p><p>Dysregulated specificity proteins (SPs), members of the C2H2 zinc-finger family, are crucial transcription factors (TFs) with implications for renal physiology and diseases. This comprehensive review focuses on the role of SP family members, particularly SP1 and SP3, in renal physiology and pathology. A detailed analysis of their expression and cellular localization in the healthy human kidney is presented, highlighting their involvement in fatty acid metabolism, electrolyte regulation, and the synthesis of important molecules. The review also delves into the diverse roles of SPs in various renal diseases, including renal ischemia/reperfusion injury, diabetic nephropathy, renal interstitial fibrosis, and lupus nephritis, elucidating their molecular mechanisms and potential as therapeutic targets. The review further discusses pharmacological modulation of SPs and its implications for treatment. Our findings provide a comprehensive understanding of SPs in renal health and disease, offering new avenues for targeted therapeutic interventions and precision medicine in nephrology.</p>","PeriodicalId":19799,"journal":{"name":"PeerJ","volume":"13 ","pages":"e18820"},"PeriodicalIF":2.3,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756367/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}