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}
{"title":"Nucleic acids based integrated macromolecular complexes for SiRNA delivery: Recent advancements.","authors":"Dilpreet Singh, Lovedeep Singh, Simranjeet Kaur, Akshita Arora","doi":"10.1080/15257770.2024.2347499","DOIUrl":"10.1080/15257770.2024.2347499","url":null,"abstract":"<p><p>The therapeutic potential of small interfering RNA (siRNA) is monumental, offering a pathway to silence disease-causing genes with precision. However, the delivery of siRNA to target cells <i>in-vivo</i> remains a formidable challenge, owing to degradation by nucleases, poor cellular uptake and immunogenicity. This overview examines recent advancements in the design and application of nucleic acid-based integrated macromolecular complexes for the efficient delivery of siRNA. We dissect the innovative delivery vectors developed in recent years, including lipid-based nanoparticles, polymeric carriers, dendrimer complexes and hybrid systems that incorporate stimuli-responsive elements for targeted and controlled release. Advancements in bioconjugation techniques, active targeting strategies and nanotechnology-enabled delivery platforms are evaluated for their contribution to enhancing siRNA delivery. It also addresses the complex interplay between delivery system design and biological barriers, highlighting the dynamic progress and remaining hurdles in translating siRNA therapies from bench to bedside. By offering a comprehensive overview of current strategies and emerging technologies, we underscore the future directions and potential impact of siRNA delivery systems in personalized medicine.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"409-432"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140864644","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}
{"title":"Identification of exon regions in eukaryotes using fine-tuned variational mode decomposition based on kurtosis and short-time discrete Fourier transform.","authors":"K Jayasree, Malaya Kumar Hota, Atul Kumar Dwivedi, Himanshuram Ranjan, Vinay Kumar Srivastava","doi":"10.1080/15257770.2024.2388785","DOIUrl":"10.1080/15257770.2024.2388785","url":null,"abstract":"<p><p>In genomic research, identifying the exon regions in eukaryotes is the most cumbersome task. This article introduces a new promising model-independent method based on short-time discrete Fourier transform (ST-DFT) and fine-tuned variational mode decomposition (FTVMD) for identifying exon regions. The proposed method uses the <i>N</i>/3 periodicity property of the eukaryotic genes to detect the exon regions using the ST-DFT. However, background noise is present in the spectrum of ST-DFT since the sliding rectangular window produces spectral leakage. To overcome this, FTVMD is proposed in this work. VMD is more resilient to noise and sampling errors than other decomposition techniques because it utilizes the generalization of the Wiener filter into several adaptive bands. The performance of VMD is affected due to the improper selection of the penalty factor (<i>α</i>), and the number of modes (<i>K</i>). Therefore, in fine-tuned VMD, the parameters of VMD (<i>K</i> and <i>α</i>) are optimized by maximum kurtosis value. The main objective of this article is to enhance the accuracy in the identification of exon regions in a DNA sequence. At last, a comparative study demonstrates that the proposed technique is superior to its counterparts.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"507-530"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141913462","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}
Sara Sami Soliman, Fathi E Abd El-Samie, Saied M Abd El-Atty, Wael Badawy, Abeer Eshra
{"title":"DNA nanotechnology for cell-free DNA marker for tumor detection: a comprehensive overview.","authors":"Sara Sami Soliman, Fathi E Abd El-Samie, Saied M Abd El-Atty, Wael Badawy, Abeer Eshra","doi":"10.1080/15257770.2024.2337853","DOIUrl":"10.1080/15257770.2024.2337853","url":null,"abstract":"<p><p>Advancements in DNA nanotechnology have led to new exciting ways to detect cell-free tumor biomarkers, revolutionizing cancer diagnostics. This article comprehensively reviews recent developments in this field, discussing the significance of liquid biopsies and DNA nanomachines in early cancer detection. The accuracy of cancer diagnosis at its early stages is expected to be significantly improved by identifying biomarkers. Liquid biopsies, offering minimally-invasive testing, hold the potential for capturing tumor-specific components like circulating tumor cells, cell-free DNA, and exosomes. DNA nanomachines are advanced molecular devices that exploit the programmability of DNA sequences for the ultrasensitive and specific detection of these markers. DNA nanomachines, nanostructures made of DNA that can be designable and switchable nanostructures, have a wide range of advantages for detecting tumor biomarkers, including non-invasiveness, affordability, high sensitivity, and specificity. Scientists also work on dealing with challenges like low marker concentrations and interference, which are addressed through microfluidic integration, nanomaterial amplification, and indirect signal detection. Despite advances, multiplex detection remains a challenge. In conclusion, DNA nanomachines bear immense promise for cancer diagnostics, advocating personalized treatment and improving patient outcomes. Continued research could redefine how we find and treat tumors, leading to better patient outcomes.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"276-290"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365952","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}
Xiaofang Yan, Xing Feng, Yan Gao, Dawei Liu, Lin Bai, Lu Xu
{"title":"Effect of human epididymis protein 4 on hyperoxia-induced bronchial dysplasia in newborn rats.","authors":"Xiaofang Yan, Xing Feng, Yan Gao, Dawei Liu, Lin Bai, Lu Xu","doi":"10.1080/15257770.2024.2356208","DOIUrl":"10.1080/15257770.2024.2356208","url":null,"abstract":"<p><strong>Objective: </strong>The study aimed to elucidate the role and the underlying mechanism of human epididymis protein 4 (HE4) in the pathogenesis of hyperoxia-induced bronchial dysplasia in newborn rats.</p><p><strong>Methods: </strong>Forty neonatal Sprague-Dawley (SD) rats were separated into two groups: a normal control group (20.8% oxygen concentration) and a hyperoxia-induced group (85% oxygen concentration). Three time intervals of 24 h, 3 days and 7 days were chosen for each group. Haematoxylin-eosin staining was used to identify the pathological alterations in the lung tissue of the SD rats. Enzyme-linked immunosorbent assay was used to evaluate plasma protein levels. Real-time reverse transcription polymerase chain reaction was used to determine messenger RNA (mRNA) expression.</p><p><strong>Results: </strong>In newborn SD rats, hyperoxia intervention within 7 days may result in acute lung damage. In the plasma and tissue of newborn SD rats, hyperoxia induction may raise levels of HE4, matrix metalloproteinases (MMP) 9 and tissue inhibitors of metalloproteinases (TIMP) 1. We discovered that the HE4 protein activates the phosphorylation of extracellular regulated protein kinases (ERK) and p65, activates the downstream MMP9 signalling pathway, inhibits MMP9 mRNA expression, inhibits protein activity, reduces type I collagen degradation, increases collagen secretion and promotes matrix remodelling and fibrosis in neonatal rat primary alveolar type II epithelial cells by overexpressing and silencing the HE4 gene.</p><p><strong>Conclusion: </strong>Through the ERK, MMP9 and TIMP1 signalling pathways, HE4 mediates the pathophysiological process of hyperoxia-induced lung damage in rats. Lung damage and lung basal remodelling are mediated by HE4 overexpression.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"378-396"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616974","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}
{"title":"LncRNA GABPB1-AS1 is a potential target for the diagnosis of prostate cancer.","authors":"Qi Chen, Yongsheng Pan, Xiufeng Yang, Hua Zhu, Bing Zheng, Longtao Ju","doi":"10.1080/15257770.2024.2372315","DOIUrl":"10.1080/15257770.2024.2372315","url":null,"abstract":"<p><strong>Background: </strong>Prostate cancer is an adverse tumor that occurs in the male reproductive system. The symptoms of patients in the early stage are not obvious and are generally difficult to detect.</p><p><strong>Aim: </strong>The aim of this study was to determine the regulation of lncRNA GABPB1-AS1 (GABPB1-AS1) on prostate cancer progression and explore the diagnostic potential of GABPB1-AS1.</p><p><strong>Methods: </strong>The contents of serum GABPB1-AS1 and miR-330-3p were examined by RT-qPCR assay. The functions of silencing GABPB1-AS1 and miR-330-3p inhibitor in prostate cancer cells were determined using transfection assay, CCK-8 assay and Transwell assay. The target of GABPB1-AS1 was predicted and verified at the molecular level by bioinformatics and luciferase reporter gene assay. The function of GABPB1-AS1 in prostate cancer diagnosis was evaluated <i>via</i> ROC method.</p><p><strong>Results: </strong>GABPB1-AS1 was upregulated in prostate cancer serum, which was associated with patients' Gleason score and TNM stage. Mechanistically, GABPB1-AS1 directly targeted miR-330-3p, and there was a negative correlation between them. Reduced levels of GABPB1-AS1 in cells after knockdown of GABPB1-AS1 resulted in decreased prostate cancer cell growth and activity, and these inhibitory effects were repaired by miR-330-3p inhibitor.</p><p><strong>Conclusion: </strong>The present study confirmed that GABPB1-AS1 was overexpressed in prostate cancer, and its sponge miR-330-3p may be an effective target for timely diagnosis of prostate cancer.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"587-597"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141616975","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}
Biju Majumdar, Daisy Sarma, Erica M Lee, Noah A Setterholm, John C Chaput
{"title":"An improved synthesis of guanosine TNA phosphoramidite for oligonucleotide synthesis.","authors":"Biju Majumdar, Daisy Sarma, Erica M Lee, Noah A Setterholm, John C Chaput","doi":"10.1080/15257770.2024.2369688","DOIUrl":"10.1080/15257770.2024.2369688","url":null,"abstract":"<p><p>The chemical synthesis of guanosine nucleosides generates both the <i>N9</i> and <i>N7</i> regioisomers, which require careful separation to obtain the desired <i>N9</i> isomer. To preferentially obtain the <i>N9</i> isomer, a bulky diphenylcarbamoyl (DPC) group can be installed at the <i>O6</i> position of guanine. However, installation of the DPC group presents a challenging task due to low solubility of the <i>N</i>-acetyl protected guanine. Here we report the usage of commercially available 2-amino-6-chloro purine as a new strategy that offers a more efficient route to the synthesis of the guanine phosphoramidite of threose nucleic acid (TNA).</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"474-485"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141432447","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}
{"title":"Protective effect of FKBP12 on dextran sulfate sodium-induced ulcerative colitis in mice as a tacrolimus receptor.","authors":"Birong Wang, Tingzan Li, Liqin Xu, Yuxi Cai","doi":"10.1080/15257770.2024.2320817","DOIUrl":"10.1080/15257770.2024.2320817","url":null,"abstract":"<p><p>Ulcerative colitis (UC) is a multifactorial intestinal disease with a high incidence. In recent years, there has been an urgent need for pleiotropic drugs with a clear biosafety profile. Tacrolimus (TAC) is an immunosuppressant with stronger <i>in vivo</i> effects and better gastrointestinal absorption and is considered a potential treatment for UC. FKBP12 is a mediator of TAC immunosuppression; however, it is unclear whether it can participate in the development of UC in combination with TAC. The purpose of this study is to preliminarily validate the function of FKBP12 by establishing dextran sulfate sodium (DSS)-induced UC model and TAC treatment. The results revealed that TAC was effective in alleviating DSS-induced UC symptoms such as body weight and disease activity index (DAI). TAC significantly protects colonic tissue and attenuates DSS-induced histomorphological changes. In addition, FKBP12 is down-regulated in the intestinal tissue of DSS-induced UC mice and in serum samples of UC patients. In conclusion, our study revealed that FKBP12 may act as a TAC receptor to have anti-inflammatory and protective effects on DSS-induced UC in mice, which will provide a new option for the treatment of UC.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"206-221"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140102076","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}
{"title":"Deprotection of N1-methyladenosine-containing RNA using triethylamine hydrogen fluoride.","authors":"A Apostle, S Fang","doi":"10.1080/15257770.2024.2353181","DOIUrl":"10.1080/15257770.2024.2353181","url":null,"abstract":"<p><p>The <i>N</i><sup>1</sup>-methyladenosine (m<sup>1</sup>A) epigenetic modification exists in many RNAs and is related to many human diseases. Chemically synthesized RNAs containing the modification are required for projects aimed at studying biological processes, mechanisms, and pathogenesis related to m<sup>1</sup>A. Existing methods for the synthesis of m<sup>1</sup>A containing RNAs use tetrabutylammonium fluoride (TBAF) for the deprotection of the 2'-silyl protecting groups. Since TBAF is nonvolatile, and is relatively non-polar, its use in the desilylation of RNA requires repeated desalting, which is tedious and gives low yields. Here we report the use of the volatile and neat triethylamine hydrogen fluoride (TEA-HF) for desilylation of m<sup>1</sup>A RNA synthesis. We found that the method is much simpler, and-in our hands-give significantly higher yield of RNA. Two major concerns for m<sup>1</sup>A RNA synthesis are depurination and Dimroth rearrangement. HPLC and MALDI MS of the RNA indicated that depurination is not a problem for the new method. The absence of Dimroth rearrangement is proven by RNA digestion followed by HPLC analysis of the nucleosides.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"318-325"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11554933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140911755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shima Salehi, Amir Hozhabrpour, Somayeh Takrim Nojehdeh, Marzieh Mojbafan
{"title":"Association between polymorphism at codon 469 of the ICAM-1 gene and Henoch-Schönlein purpura in an Iranian cohort.","authors":"Shima Salehi, Amir Hozhabrpour, Somayeh Takrim Nojehdeh, Marzieh Mojbafan","doi":"10.1080/15257770.2024.2334360","DOIUrl":"10.1080/15257770.2024.2334360","url":null,"abstract":"<p><p>Henoch-Schönlein purpura (HSP) is a common form of IgA1-mediated blood vessel inflammation affecting mainly children. Intercellular adhesion molecule-1 (ICAM-1) gene polymorphisms have been shown to be associated with HSP in different populations; in this study, we investigated its potential association and influence on the development of severe complications in Iranian HSP patients. Twenty-three patients diagnosed with IgAV/HSP according to the criteria of the American College of Rheumatology (ACR) with 53 age- and sex-matched control subjects were referred to us. Cases and controls were genotyped using Sanger sequencing. Based on our research data, we found an association between codon 469 K/E of the <i>ICAM1</i> gene and risk of HSP. Our results revealed that KK genotype and allele K are more common in control than in the HSP group, therefore the subjects with KK genotype are protected against HSP. Our data also suggested that the genotype EE is associated with higher risk of HSP progression compared to KK genotype.</p>","PeriodicalId":19343,"journal":{"name":"Nucleosides, Nucleotides & Nucleic Acids","volume":" ","pages":"259-266"},"PeriodicalIF":1.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140850857","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}