Gene Reports最新文献

{"title":"Whole exome sequencing in 33 patients revealed 4 novel variants in 11 limbs-girdle muscular dystrophy families","authors":"Sonehra ,&nbsp;Ishtiaq Ahmed ,&nbsp;Fahimullah ,&nbsp;Abdur Rehman ,&nbsp;Ranjha Khan ,&nbsp;Ahmed Waqas ,&nbsp;Hammad Tufail Chaudhary ,&nbsp;Obaid Ur Rahman ,&nbsp;Muhammad Abbas ,&nbsp;Nabil Tariq ,&nbsp;Muhammad Tariq ,&nbsp;Muhammad Asim ,&nbsp;Gul Ghani ,&nbsp;Muhammad Sohaib ,&nbsp;Mansoor Khan ,&nbsp;Bakht Tarin Khan ,&nbsp;Taimoor Khan ,&nbsp;Gauhar Rehman ,&nbsp;Muhammad Umair ,&nbsp;Musharraf Jelani ,&nbsp;Qaiser Zaman","doi":"10.1016/j.genrep.2025.102218","DOIUrl":"10.1016/j.genrep.2025.102218","url":null,"abstract":"<div><h3>Introduction</h3><div>Muscular dystrophies (MD) are a large heterogeneous group of over 60 neuromuscular disorders caused by mutations in nearly 60 different genes. These conditions lead to varying degrees of neuromuscular dysfunctions, leading to muscular dystrophies-atrophies, gait abnormalities or waddling, tip-toe walking, difficulties in climbing stairs, dilated cardiomyopathy, and respiratory distresses.</div></div><div><h3>Methods</h3><div>In this study, we for the first time examined 67 individuals from 11 families, of whom 33 were affected ranging from 4 to 30 years. Whole exome sequencing was conducted on an index patient from each family, and the causative variants were identified using our in-house data analysis pipeline. The candidate variants were further validated through Sanger sequencing in the family to confirm the segregation of the affected alleles.</div></div><div><h3>Results</h3><div>Patients primarily showed progressive weakening of muscles, changes in muscle tone or structure and the development of an abnormal gait, eventually leading to loss of ambulation. The severity of the disease varied both within and between families. This study identified four novel pathogenic variants (<em>COL6A1</em>; c.1659_1665dup; p.Pro555_Asp557dup, <em>DMD</em>; 145.7Kb cytogenetic band Xp21.1 deletion, <em>DMD:</em> 40.3Kb cytogenetic band Xp21.1 duplication and <em>HMGCR</em>; c.1537C &gt; T; p.Pro513Ser) and six recurrent variants (<em>DMD</em>; c.1032 T &gt; A; p.Tyr344Ter, <em>DMD</em>; c.3923C &gt; A; p.Ser1308Ter, <em>CAPN3</em>; c.379 + 3 A &gt; G, <em>DYSF</em>; c.4251del; p.Ile1418SerfsTer47, <em>ANO5</em>; c.692G &gt; T; p.Gly231Val. and <em>LAMA2</em>; c.1300C &gt; T; p.Arg434Ter) in seven MDs associated genes (<em>COL6A1</em>, <em>DMD</em>, <em>CAPN3</em>, <em>DYSF</em>, <em>HMGCR</em>, <em>ANO5</em>, and <em>LAMA2</em>).</div></div><div><h3>Discussion</h3><div>In this study, we identified four novel and six recurrent pathogenic variants in seven genes, expanding the genetic basis of MD and providing a valuable resource for further diagnostic and therapeutic approaches. These findings have significant implications for enhancing the understanding of MD pathogenesis and may guide the development of personalized therapeutic strategies for affected individuals. Overall, this study contributes to advancing the genetic diagnostics of MD and offers new avenues for therapeutic interventions, potentially improving patient outcomes.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102218"},"PeriodicalIF":1.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143792330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinicopathological effects of FOXO4 downregulation and FOXO6 upregulation in Indian breast cancer patients","authors":"Sheersh Massey ,&nbsp;Maria Habib ,&nbsp;Samiha Saad ,&nbsp;Arzoo Bano ,&nbsp;Mohammad Aasif Khan ,&nbsp;Syeda Maryam Husain ,&nbsp;Sadaf ,&nbsp;Kapil Dev ,&nbsp;N.K. Shukla ,&nbsp;Syed Akhtar Husain","doi":"10.1016/j.genrep.2025.102212","DOIUrl":"10.1016/j.genrep.2025.102212","url":null,"abstract":"<div><div>FOXO (Forkhead box O) proteins modulates wide range of cellular functions including metabolism, longevity, growth and proliferation. Their aberrant expression, mutations or deletions are frequently reported in various human cancers making them crucial therapeutic candidates. In this study we aim to determine the expression pattern of comparatively less explored FOXO family proteins, FOXO4 and FOXO6 and their clinicopathological significance in Indian breast cancer patients. Breast tumor tissue and adjacent normal tissue samples were collected from the collaborating institute. FOXO4 and FOXO6 mRNA and protein expression were determined using Real Time PCR and Immunohistochemistry respectively. Further, GEPIA2 (Gene Expression Profiling Interactive Analysis 2) was used to corroborate the experimental results and prognostic significance of FOXO4 and FOXO6 was determined using KM-plotter. The mRNA expression of FOXO4 was found to be 3.25 fold downregulated while that of FOXO6 was 2.7 fold upregulated in breast cancer samples. The Immunohistochemistry results revealed weak expression of FOXO4 protein in 37 out of 52 cases and strong staining was observed for FOXO6 protein in 29 out of 52 cases. Lymph node status of the patients exhibited significant association with FOXO4 mRNA (<em>p</em> = 0.011) and protein level (<em>p</em> = 0.006). Whereas in case of FOXO6, enhanced expression showed substantial relation with ER status at protein level (<em>p</em> = 0.037) and with menopausal status of the patients at both mRNA (<em>p</em> = 0.042) and protein level (<em>p</em> = 0.015). Similar expression trend was observed in GEPIA2 database for both the genes. KM-plotter analysis further revealed that FOXO4 is significantly linked to relapse free survival of the patients. FOXO4 and FOXO6 genes manifest contrasting expression patterns, with lowered FOXO4 and elevated FOXO6 expression in Indian breast cancer samples. This study aims to provide insights into the clinical relevance of expression of both the genes. Future studies investigating their molecular interactions could be helpful in determining their relative significance as putative biomarkers in diagnosis and treatment of breast cancer.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102212"},"PeriodicalIF":1.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143792331","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unravelling the interplay of antimicrobial resistance and stress response in the saline desert metagenomes of Gujarat, India","authors":"R. Sahana ,&nbsp;Vishal Mevada ,&nbsp;Urvisha Beladiya ,&nbsp;Dhaval Prajapati ,&nbsp;Himani Gandhi ,&nbsp;Rajesh Patel","doi":"10.1016/j.genrep.2025.102216","DOIUrl":"10.1016/j.genrep.2025.102216","url":null,"abstract":"<div><div>The metagenomic analysis of the present study states the intricate community of salt-tolerant bugs living in saline soils from Kutch, Gujarat. Metagenomics sequencing has already been explored in this region for community analysis. However, we analyzed the metagenome of a saline desert and compared it with publicly available published metagenomes to identify common antimicrobial resistance found in the saline desert. The bioinformatics-based analysis revealed the presence of various antibiotic resistance (AMR) genes in <em>Escherichia coli</em> EF-Tu mutants, which confer resistance to several compounds, including Pulvomycin, FosG, rsmA, qacJ, and qacG. Additionally, the vanW gene in the vanI cluster and the vanY gene in the vanM cluster were identified. These mutants exhibit different resistance mechanisms, such as antibiotic inactivation (VanA — VIM-VIA), alteration of antibiotic targets (cfr and VanB), and the involvement of antibiotic efflux pumps, etc. The prevalence of AMR genes related to efflux pump indicates the importance of this genes (copR, bcrA, cesC, merA, narA, tetA, trxLHR and yfeB) toward salt tolerance and antibiotic resistance. This effect was robust even when human impacts were not substantial, illustrating the overwhelming adaptability of these organisms. The variable presence of these genes throughout the samples highlights an environmental effect on their distribution, suggesting a resistance mechanism. This work paves the way to understanding antimicrobial resistance genes produced in these pristine, human-untouched places.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102216"},"PeriodicalIF":1.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143767804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quantitative real-time PCR analysis of circulating MicroRNA levels in blood samples from pediatric patients with epilepsy","authors":"Haidar J. Muhammed ,&nbsp;Marwa M. Al-Attar ,&nbsp;Zainab Fayadh Shubrem ,&nbsp;Mohanad Kareem Aneed Al-Saedi ,&nbsp;Maryam Qasim Mohammed","doi":"10.1016/j.genrep.2025.102214","DOIUrl":"10.1016/j.genrep.2025.102214","url":null,"abstract":"<div><h3>Background</h3><div>Epilepsy in childhood is common in the first year and its incidence decreases with age increase. The prevalence of epilepsy in Iraq was 1.0 per 1000 children according to a previous investigation. MicroRNAs play crucial roles in various biological processes, including brain development and function, and have emerged as potential key players in the complex pathophysiology of epilepsy. This study aimed to investigate the expression levels of miRNAs in their mature forms including <em>miR-30a-5p</em> and <em>miR-577</em>, in epilepsy patients and to explore their potential as biomarkers for the disease.</div></div><div><h3>Methods</h3><div>Eighty participants were enrolled in the study classified as (<em>n</em> = 40) Epilepsy patients along with (n = 40) as healthy controls (HCs). The miRNA was extracted from whole blood, converted to complementary DNA (cDNA) using a specialized kit, and quantified using quantitative real-time PCR (qRT-PCR) for <em>miR-30a-5p, miR-577,</em> and the reference gene <em>snRNA-U6</em>.</div></div><div><h3>Results</h3><div>The results revealed a significant upregulation of <em>miR-30a-5p</em> in epilepsy patients compared to healthy controls with (<em>p</em>-value, 0.01). The <em>miR-577</em> expression did not differ between groups (<em>p</em>-value, 0.2). A weak negative correlation between the two miRNAs was observed, suggesting a potential inverse correlation. Receiver Operating Characteristic (ROC) curve analysis indicated that <em>miR-30a-5p</em> may serve as a biomarker for epilepsy.</div></div><div><h3>Conclusion</h3><div>This study suggests that <em>miR-30a-5p</em>, showing upregulation and according to the ROC curve may act as an early epilepsy detection biomarker. Conversely, miR-577, despite a decrease in expression, is deemed unsuitable as a biomarker due to its lack of statistical significance and poor diagnostic performance.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102214"},"PeriodicalIF":1.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143767803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sanguinarine targets the catalytic domain of MMP-9: Molecular dynamics and in vitro studies in MDA-MB 468 breast cancer cells","authors":"Rahul Kumar Vempati,&nbsp;Rama Rao Malla","doi":"10.1016/j.genrep.2025.102215","DOIUrl":"10.1016/j.genrep.2025.102215","url":null,"abstract":"<div><div>Matrix metalloproteinase 9 (MMP9) belongs to a group of endopeptidases. It is functionally involved in the proteolytic degradation of extracellular matrix proteins in various pathophysiological conditions. MMP9 is overexpressed in several cancers and is crucial for metastatic progression of triple negative breast cancer (TNBC). Because of its etiological significance in TNBC, it is considered a potential therapeutic target. In this study, our <em>in silico</em> studies demonstrated that Sanguinarine (SAN) could directly binds to catalytic domain (CD) of MMP9 <em>via</em> key amino acid residues involved in its enzymatic function. Docking studies using CB Dock, PyRx, Seam Dock, and 1-click docking have predicted that SAN binds the MMP9-CD with a binding affinity of −8.5 kcal/mol. Further, our docking studies also showed that structural derivatives of SAN bind to the CD of MMP9 with almost the same affinity as SAN. Structural derivatives 10-hydroxydihydrosanguinarine, dihydrosanguinarine, ethoxysanguinarine, and norsanguinarine were found to bind the MMP9-CD with binding affinities −8.3 kcal/mol,-8.2 kcal/mol,-7.5 kcal/mol, and -8.3 kcal/mol, respectively. Molecular dynamics simulation studies strongly validated our docking results showing that SAN forms stable interactions with critical amino acid residues Leu188, Tyr393, and Met 422 within the catalytic site of MMP9. Further, the effect of SAN on activity and expression of MMP9 was validated in MDA-MB 468, a TNBC cell line, along with known MMP9 inhibitor, Amentoflavone (AMF). Both SAN and AMF reduced the viability and proliferation of TNBC cells by damaging the cell integrity. On the whole, our study shows that SAN can directly inhibit MMP9 by binding to its CD and viability of breast cancer cells.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102215"},"PeriodicalIF":1.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143777249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative evaluation of macrophage polarization markers- nitric oxide, sCD163 and miRNA-21 in the saliva of healthy, gingivitis and periodontitis patients with and without type 2 diabetes mellitus: A case-control study","authors":"J. Akshaya,&nbsp;Dhayanand John Victor,&nbsp;Devapriya Appukuttan,&nbsp;Santhosh Venkadassalapathy,&nbsp;Sangeetha Subramanian,&nbsp;P.S.G. Prakash","doi":"10.1016/j.genrep.2025.102213","DOIUrl":"10.1016/j.genrep.2025.102213","url":null,"abstract":"<div><h3>Background</h3><div>M1/M2 macrophage phenotypes are crucial for periodontal tissue homeostasis, and their balance is modulated by micro-RNAs. This study sought to assess the potential of nitric oxide (NO), sCD163, and miRNA-21 to serve as diagnostic biomarkers.</div></div><div><h3>Materials and methods</h3><div>52 subjects categorised into 4 groups - Group A: systemically and periodontally healthy; Group B: systemically healthy with gingivitis; Group C: Stage- III or IV Periodontitis without Type 2 Diabetes Mellitus(T2DM) and Group D: stage III/IV periodontitis with T2DM.Saliva was analyzed for sCD163 using ELISA, NO by colorimetric assay and miRNA-21 by real time qPCR.</div></div><div><h3>Results</h3><div>Group C and D had higher concentration of sCD163 and NO, when compared to Groups A and B with the difference being statistically significant (<em>p</em> &lt; 0.001). The miRNA-21 CT values were highest in group B while it was lowest in group D, with this difference being significant (p &lt; 0.001). Higher miRNA-21 fold change was seen in group C which however was not statistically significant on comparing between the groups. sCD163 and NO values showed a positive correlation and miRNA-21 CT values showed a negative correlation with clinical parameters which was statistically significant (<em>p</em> &lt; 0.05). sCD163 and NO showed a significant positive correlation with each other, whereas miRNA-21 CT showed significant negative correlation with sCD163 (p &lt; 0.05).</div></div><div><h3>Conclusions</h3><div>Dysregulated macrophage polarization may play a prime role in the pathogenesis of periodontitis with or without diabetes mellitus. sCD163, NO, and miRNA-21 could be potential diagnostic biomarkers for evaluating macrophage polarization and periodontitis severity, which will however need to be confirmed through longitudinal trials.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102213"},"PeriodicalIF":1.0,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CRISPR interference for blaNDM-1 and blaOXA-48 genes suppression in carbapenemase-resistant Klebsiella pneumoniae strains","authors":"Yeganeh Hajizadeh ,&nbsp;Mana Oloomi","doi":"10.1016/j.genrep.2025.102210","DOIUrl":"10.1016/j.genrep.2025.102210","url":null,"abstract":"<div><div>One treatment option for multidrug-resistant strains, such as carbapenemase-producing <em>Klebsiella pneumoniae</em>, is the CRISPR interference (CRISPRi) technique, developed to address issues caused by these pathogens. This system includes a gRNA and a dCas9. This study investigates the effectiveness of the CRISPRi system in reducing meropenem resistance in <em>K. pneumoniae</em> harboring β-lactamase strains, specifically the <em>bla</em>_NDM-1 and <em>bla</em>_OXA-48 genes, both separately and simultaneously, by optimizing sgRNA designs. We designed and incorporated two optimal sgRNAs, which were then cloned into a pJMP1363 plasmid with the CRISPRi system to target the expression of the <em>bla</em>_NDM-1 and <em>bla</em>_OXA-48 genes separately and simultaneously. Antimicrobial resistance was evaluated using the MIC test, and gene expression was measured with qRT-PCR. The MIC test results showed a decrease in meropenem resistance in <em>K. pneumoniae</em> strains carrying the pJMP1363 construct (sgRNA+). The qRT-PCR analysis indicated a reduction in mRNA expression for strains carrying the construct (sgRNA+), with a 67-fold and 31-fold decrease for <em>bla</em>_OXA-48 and <em>bla</em>_NDM-1, respectively, and a 100-fold decrease for strains with both <em>bla</em>_OXA-48 and <em>bla</em>_NDM-1. The decrease in meropenem resistance was more noticeable in strains harboring both resistance genes compared to strains with either gene alone. The study also demonstrated that both sgRNA_OXA-48 and sgRNA_NDM-1, targeting the non-template and template strands of the respective genes, effectively lowered transcription levels of the target genes. Notably, sgRNA_OXA-48 significantly reduced the expression of the <em>bla</em>_OXA-48 gene.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102210"},"PeriodicalIF":1.0,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bioinformatic tools for CRISPR-mediated genome editing","authors":"Fatemeh Gila ,&nbsp;Shayan Shakeri ,&nbsp;Somayeh Khoddam ,&nbsp;Zahra Jamali ,&nbsp;Ali Saber Sichani ,&nbsp;Zeinab Dehghan ,&nbsp;Jafar Fallahi","doi":"10.1016/j.genrep.2025.102204","DOIUrl":"10.1016/j.genrep.2025.102204","url":null,"abstract":"<div><div>The groundbreaking gene-editing tool CRISPR-Cas9 has revolutionized molecular biology. It is a method that enables scientists to precisely alter the DNA of living cells, which holds great promise for treating genetic illnesses. The Cas9 protein and a guide RNA (gRNA) are the two critical parts of the CRISPR-Cas9 system. While the gRNA guides the Cas9 protein to the appropriate region in the genome, the Cas9 protein functions as a pair of molecular scissors, cutting the DNA at a specific location. In recent years, several databases have been created to assist researchers in designing efficient gRNAs. These databases provide information on the specificity and efficiency of various gRNAs and tools for designing custom gRNAs. This review article will go over the most beneficial and recent databases for gRNA design that are now accessible. These databases are crucial for attaining effective and precise gene editing and therapy using the CRISPR-Cas9 system.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102204"},"PeriodicalIF":1.0,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143716067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cerebrolysin in post-TBI recovery: Pharmacology and clinical evidence","authors":"Doha El-sayed Ellakwa ,&nbsp;Ahmed Said Mansour ,&nbsp;Rimon Gorgui ,&nbsp;Hala Mohamed Banksle","doi":"10.1016/j.genrep.2025.102202","DOIUrl":"10.1016/j.genrep.2025.102202","url":null,"abstract":"<div><div>Traumatic brain injury (TBI) affects millions of individuals globally on an annual basis, with present therapeutic approaches primarily concentrating on the management of symptoms and the prevention of secondary injuries. Affected individuals frequently encounter enduring cognitive and functional deficits, which substantially diminish their overall quality of life. Nonetheless, in spite of progress made in acute medical care, efficacious treatments aimed at facilitating neurorecovery and enhancing long-term outcomes remain limited. Consequently, researchers are investigating innovative therapeutic interventions, with cerebrolysin emerging as a notable candidate. This neuropeptide formulation has exhibited neuroprotective and neurorestorative capabilities in preclinical investigations, fostering neuroplasticity, augmenting neurogenesis, and mitigating neuronal injury in TBI models. Furthermore, clinical trials have revealed potential advantages for human patients. This review aims to elucidate the mechanisms of action of cerebrolysin and its prospective function in TBI recovery, scrutinizing preclinical evidence pertaining to its neuroprotective effects and facilitation of brain repair. Additionally, we assess clinical findings from randomized controlled trials, which indicate enhancements in motor skills, cognitive abilities, and overall functional outcomes among TBI patients administered cerebrolysin. While preliminary results are promising, we examine existing evidence deficiencies and domains necessitating additional inquiry, encompassing the identification of patient subpopulations that are most likely to derive benefit, the optimization of dosage protocols, and the execution of more extensive, multi-center clinical trials. This thorough analysis aspires to clarify the potential of cerebrolysin as a therapeutic modality and to inform subsequent research endeavors in this vital domain.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102202"},"PeriodicalIF":1.0,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143767802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decoding whole genome of an industrially important thermophilic bacterium Anoxybacteroides rupiense","authors":"Uroosa Ejaz ,&nbsp;Hassan Ghayas ,&nbsp;Sabiha Yousuf ,&nbsp;Ayaz Taj ,&nbsp;Muhammad Sohail","doi":"10.1016/j.genrep.2025.102207","DOIUrl":"10.1016/j.genrep.2025.102207","url":null,"abstract":"<div><div><em>Anoxybacteroides</em> (previously <em>Anoxybacillus)</em> is a relatively new genus, proposed in the year 2000, and comprised of many species which are reported to play a vital role in bioprocessing and bioremediation. Very few reports described the whole genome sequence (WGS) of this genus. Therefore, in this study, WGS of a new strain, UE27, was analyzed. This thermophilic strain was previously isolated from the crocodile pond of Manghopir, Karachi. The genome of <em>A. rupiense</em> (previously <em>Anoxybacillus rupiensis</em>) UE27 was submitted to NCBI GenBank with the accession number JBHLFH010000000.1. Genome size was found to be 3,771,980 bp with 76 contigs and 42.33 % GC content. Among 3789 genes, 3708 were found as protein coding genes. Interestingly, intake prophage genome was found which has not been previously reported in <em>A. rupiense</em>. The prophage region contained 68 coding sequence among which 48 were identified as phage-related genes with 40.09 % GC content. The xylan degradation genes were also annotated in the genome. Moreover, many genes responsible for azo dye degradation, heavy metal detoxification and hydrocarbon removal were found in the genome. Conclusively, this study provided insight into gene repertoire of <em>A. rupiense</em> and a basis for the potential application of this thermophilic bacterium in bioremediation and bioprospecting.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102207"},"PeriodicalIF":1.0,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143739019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}