Nucleosides, Nucleotides & Nucleic Acids最新文献

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Desalting of oligonucleotides through precipitation for mass spectrometric analysis. 通过沉淀法脱盐寡核苷酸用于质谱分析。
IF 1.1 4区 生物学
Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-01-13 DOI: 10.1080/15257770.2025.2452387
Raissa Sultana, Eline Darjinoff, Hamza Qureshi, Liqun Qiu, Jonathon Roepke, Hongbin Yan
{"title":"Desalting of oligonucleotides through precipitation for mass spectrometric analysis.","authors":"Raissa Sultana, Eline Darjinoff, Hamza Qureshi, Liqun Qiu, Jonathon Roepke, Hongbin Yan","doi":"10.1080/15257770.2025.2452387","DOIUrl":"https://doi.org/10.1080/15257770.2025.2452387","url":null,"abstract":"<p><p>Contamination of sodium ions in oligonucleotides often causes issues in mass spectrometric analysis. This study investigated the efficiency of the combination of ammonium acetate and alcohol in desalting oligonucleotides. It was found that oligonucleotide samples containing up to 4 M NaCl can be effectively desalted through precipitation with ethanol or isopropanol in the presence of 1 or 5 M ammonium acetate. The level of sodium ions was reduced by 2-3 orders of magnitude as determined by atomic emission spectroscopy. The desalted samples were successfully analyzed by direct-infusion electrospray ionization mass spectrometry.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-8"},"PeriodicalIF":1.1,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Knockdown of miR-182 changes the sensitivity of triple-negative breast cancer cells to cisplatin. miR-182的敲低改变三阴性乳腺癌细胞对顺铂的敏感性。
IF 1.1 4区 生物学
Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-01-11 DOI: 10.1080/15257770.2025.2451818
Hülya Dönmez, Bahadır Batar, Burhan Turgut
{"title":"Knockdown of miR-182 changes the sensitivity of triple-negative breast cancer cells to cisplatin.","authors":"Hülya Dönmez, Bahadır Batar, Burhan Turgut","doi":"10.1080/15257770.2025.2451818","DOIUrl":"https://doi.org/10.1080/15257770.2025.2451818","url":null,"abstract":"<p><p>Breast cancer is the most common malignancy that affects women. MicroRNAs (miRNAs) play an essential role in cancer therapy and regulate many biological processes such as cisplatin resistance. The study's objective was to determine whether miR-182 dysregulation was the cause of cisplatin resistance in TNBC cell line MDA-MB-231. To determine the expression of miR-182, PCR was performed with primers specific to miR-182, and agarose gel electrophoresis was performed. To reduce the expression of miR-182 in MDA-MB-231 cells, anti-miR-182 oligonucleotides were used. RT-qPCR was used to confirm knockdown. The knockdown and control groups were treated with cisplatin at the same time. Propidium iodide (PI) and Annexin V staining were performed for apoptosis assay. Flow cytometric analysis was used to investigate the effect of miR-182 knockdown on cell cycle arrest. In comparison to untreated control MDA-MB-231 cells with MDA-MB-231 cells treated with anti-miR-182, there was a significant increase in the cisplatin-induced early apoptosis phase (<i>p</i> = 0.023). Also, inhibition of miR-182 significantly increased the cell cycle arrest at the G2/M phase in MDA-MB-231 cells (<i>p</i> = 0.031). Our results revealed that miR-182 inhibition may play a role in the overcoming of cisplatin resistance by inducing apoptosis and, cell cycle arrest in TNBC.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-15"},"PeriodicalIF":1.1,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142966203","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Taguchi method for optimization of Cr(VI) removal, isotherm, kinetic and thermodynamic studies. 田口法优化六价铬的去除、等温线、动力学和热力学研究。
IF 1.1 4区 生物学
Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-01-01 Epub Date: 2024-02-06 DOI: 10.1080/15257770.2024.2308517
Sabrina Aziri, Smail Meziane, Hakima Bozetine, Nabila Berkane
{"title":"Taguchi method for optimization of Cr(VI) removal, isotherm, kinetic and thermodynamic studies.","authors":"Sabrina Aziri, Smail Meziane, Hakima Bozetine, Nabila Berkane","doi":"10.1080/15257770.2024.2308517","DOIUrl":"10.1080/15257770.2024.2308517","url":null,"abstract":"<p><p>In this study, Taguchi optimization method was applied to determine the optimum operating conditions for batch adsorption of Cr(VI) from aqueous solution. Initial pH of solution, adsorbent dose, initial hexavalent chromium concentration, contact time and adsorbent type were selected as the variables, and the removal efficiency of Cr(VI) was chosen for the designated response. L<sub>18</sub>(3<sup>5</sup>) orthogonal array, signal-to-noise (S/N) ratio and analysis of variance statistical procedures were applied to identify the effect of each operating parameter on the removal of Cr(VI) from aqueous solution. The signal-to-noise (S/N) ratio results showed that the optimal combination for Cr(VI) removal was at pH 1.0, adsorbent dose of 3.6 g.L<sup>-1</sup>, Cr(VI) concentration of 30 mg.L<sup>-1</sup>, contact time of 95 min and olive leaves as adsorbent type. A removal of 95.09% was obtained at these optimum conditions. The analysis of variance of the data revealed that initial pH of solution was the most dominant parameter affecting Cr(VI) removal efficiency, followed by adsorbent type, adsorbent dose, contact time and initial metal concentration. Under optimal conditions, adsorption kinetic of Cr(VI) was studied and modeled using the pseudo first-order, pseudo-second-order and intraparticle diffusion models. It was found that the pseudo-second-order model fitted the adsorption data most with the highest determination coefficient (R<sup>2</sup> = 0.996). Freundlich isotherm model, with regression coefficient R<sup>2</sup> of 0.953, fit well with the equilibrium isotherm data. The Langmuir maximum adsorption capacity was found to be 62.5 mg.g<sup>-1</sup>. The experimental values of ΔH°, ΔG° and ΔS° revealed that the adsorption process was spontaneous and endothermic.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"16-40"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139697985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The role of miRNA134 in pathogenesis and treatment of intractable epilepsy: a review article. miRNA134 在难治性癫痫发病机制和治疗中的作用:综述文章。
IF 1.1 4区 生物学
Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-01-01 Epub Date: 2024-03-26 DOI: 10.1080/15257770.2024.2331046
Maniya Kasaiyan, Mohsen Basiri, Sara Pajouhanfar
{"title":"The role of miRNA134 in pathogenesis and treatment of intractable epilepsy: a review article.","authors":"Maniya Kasaiyan, Mohsen Basiri, Sara Pajouhanfar","doi":"10.1080/15257770.2024.2331046","DOIUrl":"10.1080/15257770.2024.2331046","url":null,"abstract":"<p><p>MicroRNA-134 (miRNA134) has emerged as a critical regulator in the pathogenesis of epilepsy, particularly in intractable cases resistant to conventional therapies. This review explores the multifaceted roles of miRNA134 in epileptogenesis, focusing on its influence on dendritic spine morphology and synaptic plasticity. Through its interactions with proteins such as LIM kinase 1 (LIMK1), Pumilio 2 (PUM2), and Tubby-like protein 1 (TULP1), miRNA134 modulates various molecular pathways implicated in epilepsy development. Preclinical studies have shown pro-mising results in targeting miRNA134 for mitigating seizure activity, highlighting its potential as a therapeutic target. Furthermore, miRNA134 holds promise as a biomarker for epilepsy diagnosis and prognosis, offering opportunities for personalized treatment approaches. However, further research is warranted to elucidate the precise mechanisms underlying miRNA134's effects and to translate these findings into clinical applications.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"222-237"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140294077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular diversity of Klebsiella pneumoniae clinical isolates: antimicrobial resistance, virulence, and biofilm formation. 肺炎克雷伯氏菌临床分离物的分子多样性:抗菌药耐药性、毒性和生物膜形成。
IF 1.1 4区 生物学
Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-01-01 Epub Date: 2024-05-08 DOI: 10.1080/15257770.2024.2344741
Ayşe Hümeyra Taşkın Kafa, Rukiye Aslan, Sevgi Durna Daştan, Cem Çeli K, Mürşit Hasbek, Ayşenur Emi Noğlu
{"title":"Molecular diversity of <i>Klebsiella pneumoniae</i> clinical isolates: antimicrobial resistance, virulence, and biofilm formation.","authors":"Ayşe Hümeyra Taşkın Kafa, Rukiye Aslan, Sevgi Durna Daştan, Cem Çeli K, Mürşit Hasbek, Ayşenur Emi Noğlu","doi":"10.1080/15257770.2024.2344741","DOIUrl":"10.1080/15257770.2024.2344741","url":null,"abstract":"<p><p>One of the mechanisms responsible for antibiotic resistance in <i>Klebsiella pneumoniae</i> is the enzymes produced by the bacteria; another important mechanism is the ability to form biofilm. In this study, antibiotic resistance, genes associated with virulence, and biofilm-forming properties of <i>K. pneumoniae</i> strains were investigated. A total of 100  <i>K. pneumoniae</i> isolates were obtained from different clinical samples identified by Matrix-Assisted Laser Desorption/Ionization time-of-flight Mass Spectrometry. Antimicrobial susceptibility testing was performed with the Phoenix 100 apparatus. The biofilm forming properties of strains were determined by the microtiter plate method. For molecular analysis, genes encoding the carbapenemase enzyme (<i>bla</i><sub>OXA-48</sub>, <i>bla</i><sub>NDM-1</sub>, <i>bla</i><sub>IMP</sub>, and <i>bla</i><sub>VIM</sub>) and biofilm-related genes (<i>tre</i>C, <i>lux</i>S, <i>mrk</i>A, and <i>wza</i>) were investigated by polymerase chain reaction (PCR). While 76% of clinical isolates were resistant to three or more antimicrobials, 24% were classified as non-multidrug resistant (non-MDR). When biofilm-forming capacities of clinical isolates were tested, it was determined that the resistant-isolates produced 59.2% strong biofilm, and susceptible-isolates produced 12.5% strong biofilm. According to PCR results, carbapenemase genes were determined as follows: <i>bla</i><sub>OXA-48</sub>-70%, <i>bla</i><sub>NDM</sub>-49%, and <i>bla</i><sub>KPC</sub>-19%, <i>bla</i><sub>OXA-48</sub>/<i>bla</i><sub>NDM</sub>/<i>bla</i><sub>KPC</sub>-12%, <i>bla</i><sub>OXA-48</sub>/<i>bla</i><sub>NDM</sub>-26%, and <i>bla</i><sub>OXA-48</sub>/<i>bla</i><sub>KPC</sub>-4%. The biofilm-associated genes in bacterial isolates were determined as follows: <i>lux</i>S-98%, <i>tre</i>C-94%, <i>mrk</i>A-88%, and <i>wza</i>-15%. In addition, Hierarchical Clustering Tree and Heatmap analysis revealed an association between isolates that lacks resistance genes and isolates lacks biofilm-formation related genes that were included in MDR or non-MDR classes. As a result, biofilm should be considered in the treatment of MDR infections, and therapy should be planned accordingly. In addition, pursuing the data and genes of antibiotic resistance is significant for combating resistance.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"361-377"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140890611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognostic value and immunological role of MMRN1: a rising star in cancer. MMRN1 的预后价值和免疫学作用:癌症中的一颗新星。
IF 1.1 4区 生物学
Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-01-01 Epub Date: 2024-05-07 DOI: 10.1080/15257770.2024.2335680
Qing Zhou, Ying Liu, Jieyu Zhou, Wenling Zhang
{"title":"Prognostic value and immunological role of MMRN1: a rising star in cancer.","authors":"Qing Zhou, Ying Liu, Jieyu Zhou, Wenling Zhang","doi":"10.1080/15257770.2024.2335680","DOIUrl":"10.1080/15257770.2024.2335680","url":null,"abstract":"<p><strong>Background: </strong>Multimerin 1 (MMRN1) is a factor V binding protein, which can support platelet adhesion and thrombus formation. In recent years, the role of MMRN1 in cancer has begun to attract attention. But systematic studies in this area are lacking. Therefore, we used bioinformatics methods to analyze MMRN1 in tumors to reveal the possible role of MMRN1.</p><p><strong>Methods: </strong>Using the Cancer Genome Atlas (TCGA) and the Genotype-Tissue Expression (GTEx) database, we obtained relevant data for analyzing MMRN1. Using Gene Expression Profiling Interactive Analysis (GEPIA), Human Protein Atlas (HPA), TCGA, GeneMANIA, and cBioPortal, we explored the potential role of MMRN1 in different types of tumors. Tumor Immune System Interactions and Drug Bank (TISIDB) and Sangerbox were used to analyze the correlation between MMRN1 and tumor immunity. Gene set cancer analysis (GSCA) and UALCAN were used to analyze the methylation of MMRN1. GSCA was also used to analyze the drug sensitivity of MMRN1.</p><p><strong>Results: </strong>MMRN1 is down-regulated in most cancer types and is closely related to the prognosis of cancer patients. Interestingly, in most tumors, MMRN1 is positively correlated with immune -related genes. In addition, we observed different levels of methylation and mutations in different types of tumors. Drug sensitivity analysis found that MMRN1 was negatively correlated with several drugs, including GW-2580 and TL-1-85, suggesting that it can be used to develop potential anticancer therapies.</p><p><strong>Conclusion: </strong>Our analysis demonstrated a significant relationship between MMRN1 and prognosis, tumor immunity, and drug sensitivity of several tumors. As a rising star in cancer, it needs further research.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"148-169"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140876953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The critical role and functional mechanism of microRNA-146a in doxorubicin-induced apoptosis in breast cancer cells. microRNA-146a在多柔比星诱导乳腺癌细胞凋亡中的关键作用和功能机制
IF 1.1 4区 生物学
Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-01-01 Epub Date: 2024-03-26 DOI: 10.1080/15257770.2024.2330592
Sara Tutunchi, Parisa Nourmohammadi, Roghayeh Tofigh, Saeedeh Akhavan, Mina Zare, Sadra Samavarchi Tehrani, Ghodratollah Panahi
{"title":"The critical role and functional mechanism of microRNA-146a in doxorubicin-induced apoptosis in breast cancer cells.","authors":"Sara Tutunchi, Parisa Nourmohammadi, Roghayeh Tofigh, Saeedeh Akhavan, Mina Zare, Sadra Samavarchi Tehrani, Ghodratollah Panahi","doi":"10.1080/15257770.2024.2330592","DOIUrl":"10.1080/15257770.2024.2330592","url":null,"abstract":"<p><strong>Background: </strong>Breast cancer among women is the most frequently diagnosed cancer and the leading cause of death worldwide. There many advances in diagnosing and treating this disease, early diagnosis and treatment are still a significant challenge in the early stages. In recent years, microRNAs have attracted much attention in cancer diagnosis and treatment. However, the role of miR-146a in breast cancer is still controversial. We aimed to investigate the roles of miR-146a in apoptosis in breast cancer cells.</p><p><strong>Methods: </strong>A microarray dataset from the GEO database was selected, and using the GEO2R tool, the gene expression profile of this dataset was extracted. Then, the target scan database was used to explore the miR-146a target genes. The link between the signaling pathways was collected. We used miR-146a mimic, which was transfected to the MCF-7 cells to investigate the miR-146a roles in the apoptosis. The expression levels of miR-146a and BAX, BCL-2, and p-21(most essential genes in the apoptosis) were quantified by qPCR and western blot analysis.</p><p><strong>Results: </strong>Our findings indicated that doxorubicin induces miR-146a expression. In addition, overexpression of miR-146a affected MCF-7 cell viability, induced apoptosis, and led to reduced expression levels of BCL-2 and P-21, as well as increased BAX expression levels.</p><p><strong>Conclusion: </strong>Considering the role of doxorubicin in inducing apoptosis and increasing the expression of miR-146a, it can be suggested that this miR is involved in inducing apoptosis in BC cells. In addition, miR-146a can be considered a therapeutic candidate.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"124-135"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140294076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
HLAB27 may confer protection to COVID-19 in generalized vitiligo patients from South Gujarat population. 在南古吉拉特人群中,HLAB27 可能会对泛发性白癜风患者的 COVID-19 产生保护作用。
IF 1.1 4区 生物学
Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-01-01 Epub Date: 2024-01-19 DOI: 10.1080/15257770.2024.2303710
Prashant S Giri, Radhika Bhimani, Naresh C Laddha, Mitesh Dwivedi
{"title":"<i>HLAB27</i> may confer protection to COVID-19 in generalized vitiligo patients from South Gujarat population.","authors":"Prashant S Giri, Radhika Bhimani, Naresh C Laddha, Mitesh Dwivedi","doi":"10.1080/15257770.2024.2303710","DOIUrl":"10.1080/15257770.2024.2303710","url":null,"abstract":"<p><p>Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), while generalized vitiligo(GV) is an autoimmune disease that causes the loss of functional melanocytes, resulting in white patches all over the body. Human Leukocyte Antigen (HLA) plays a crucial role in immune response to pathogens. Studies assessing the link between GV and COVID-19 are lacking; therefore, our current study was aimed to establish the association between GV and <i>HLAB27</i> by genotyping the <i>HLAB27</i> allele in 150 GV patients and 150 controls from South Gujarat population through polymerase chain reaction-sequence-specific primers (PCR-SSP) method. Additionally, we assessed the correlation of GV with COVID-19 and the influence of <i>HLAB27</i> on COVID-19 development. Interestingly, our study suggested that the <i>HLAB27</i> allele was prevalent in GV patients as compared to controls (52% <i>vs</i> 35.33%; <i>p</i> = 0.0051). Moreover, the occurrence of COVID-19 was significantly lower in GV patients than in controls (10% <i>vs</i> 32.66%; <i>p</i> < 0.0001). Disease activity-based analysis suggested that COVID-19 occurrence was significantly lower in active vitiligo (AV) patients as compared to stable vitiligo (SV) patients(6.87% <i>vs</i> 31.57%; <i>p</i> = 0.0045). Furthermore, COVID-19 development was significantly reduced in <i>HLAB27</i> positive individuals as compared to <i>HLAB27</i> negative individuals (<i>p</i> = 0.0025). Overall, our study suggests, for the first time, that <i>HLAB27</i> allele might be a genetic risk factor for GV susceptibility, and an ongoing immune response in GV patients, more specifically in AV patients, might protect against COVID-19 infection in South Gujarat population. Additionally, our study highlighted the likely role of <i>HLAB27</i> in protection against COVID-19 development.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"1-15"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139491747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current updates on genetic spectrum of usher syndrome. 目前有关 usher 综合征遗传谱的最新进展。
IF 1.1 4区 生物学
Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-01-01 Epub Date: 2024-05-08 DOI: 10.1080/15257770.2024.2344194
Farman Ullah, Muhammad Zeeshan Ali, Safeer Ahmad, Muhammad Muzammal, Saadullah Khan, Jabbar Khan, Muzammil Ahmad Khan
{"title":"Current updates on genetic spectrum of usher syndrome.","authors":"Farman Ullah, Muhammad Zeeshan Ali, Safeer Ahmad, Muhammad Muzammal, Saadullah Khan, Jabbar Khan, Muzammil Ahmad Khan","doi":"10.1080/15257770.2024.2344194","DOIUrl":"10.1080/15257770.2024.2344194","url":null,"abstract":"<p><p>Usher syndrome (USH) is a genetic disorder that is characterized by sensorineural hearing loss (HL) and visual abnormality, i.e., loss of night vision and side (peripheral) vision. Usher syndrome is categorized into four subtypes (USH1, USH2, USH3, USH4) on the basis of phenotypic spectrum. Profound hearing loss (HL), vestibular are flexia and language disturbance are typically associated with Usher type 1, while USH2 is linked with moderate to severe level of congenital HL. USH3 has late onset of deafness in life (referred to as \"postlingual\"), inconstant vestibular abnormality and onset of retinitis pigmentosa (RP) typically in 2nd decade of life. Patients with USH4 have no vestibular impairment and have late onset of retinitis pigmentosa (RP) and sensorineural hearing loss. Until now, 15 genetic loci have been reported to be linked with all types of USH. Among reported USH loci, nine are related to be involved in USH1, three in USH2, two in USH3 and one locus in USH4, respectively. Current review has described different types of Usher syndrome and their molecular genetics, and role of usher proteins in sensory organs. Moreover, we also suggested certain candidate genes for uncharacterized loci that may help the molecular geneticist to reach their target easily. Conclusion: The current catalogue of USH genetic data may assist in genetic counseling, genetic diagnosis, and genotype-phenotype correlation.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"337-360"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140892357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of polymorphisms within P2RX4 with type 2 diabetes mellitus: a preliminary case-control study. P2RX4 多态性与 2 型糖尿病的关系:一项初步病例对照研究。
IF 1.1 4区 生物学
Nucleosides, Nucleotides & Nucleic Acids Pub Date : 2025-01-01 Epub Date: 2024-07-02 DOI: 10.1080/15257770.2024.2373300
Homa Noori, Mahdi Majidpour, Mahboobeh Sabeti Akbar-Abad, Ramin Saravani
{"title":"Association of polymorphisms within <i>P2RX4</i> with type 2 diabetes mellitus: a preliminary case-control study.","authors":"Homa Noori, Mahdi Majidpour, Mahboobeh Sabeti Akbar-Abad, Ramin Saravani","doi":"10.1080/15257770.2024.2373300","DOIUrl":"10.1080/15257770.2024.2373300","url":null,"abstract":"<p><strong>Objective: </strong>Type 2 diabetes mellitus (T2DM) is a complex heterogenic metabolic with a wide range of etiology. Purinergic receptors have pivotal roles in different processes and are hypothesized to have roles in the pathogenesis of T2DM.</p><p><strong>Materials and methods: </strong>Three hundred subjects affected by T2DM and 300 healthy subjects were genotyped by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). SPSS V16.0 was recruited for statistical analysis.</p><p><strong>Results: </strong>The findings showed that the G allele of rs25644A > G increases the risk of T2DM in our population statistically (OR = 1.51, 95% CI = 1.14-1.99, <i>p</i> = 0.003). This allele in some genotype models, including the dominant model, caused an increase in the risk of T2DM. The interaction of genotypes between studied variants in the <i>P2XR4</i> gene increased the risk of T2DM. Haplotype analysis showed that A<sub>rs1169727</sub>/G<sub>rs25644</sub> haplotype caused an increase in the risk of T2DM.</p><p><strong>Conclusions: </strong>The findings suggest that rs25644A > G plays a role in our population's increased risk of T2DM.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"397-407"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141492880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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