Gene Reports最新文献

{"title":"Assessment of MepA inhibition potential using thiadiazine derivatives through fluorometry, docking, and qPCR","authors":"Ana Carolina Justino de Araújo ,&nbsp;Priscilla Ramos Freitas ,&nbsp;Isaac Moura Araújo ,&nbsp;João Arthur de Oliveira Borges ,&nbsp;Ray Silva Almeida ,&nbsp;José Bezerra de Araújo-Neto ,&nbsp;Cícera Datiane de Moraes Oliveira-Tintino ,&nbsp;Igor José dos Santos Nascimento ,&nbsp;João Xavier de Araújo-Júnior ,&nbsp;Edeildo Ferreira da Silva-Júnior ,&nbsp;Thiago Mendonça de Aquino ,&nbsp;Francisco Jaime Bezerra Mendonça Junior ,&nbsp;Emmanuel Silva Marinho ,&nbsp;Helcio Silva dos Santos ,&nbsp;Julia Mariana Assis da Silva ,&nbsp;Tereza Cristina Leal Balbino ,&nbsp;Irwin Rose de Alencar Menezes ,&nbsp;Saulo Relison Tintino ,&nbsp;Henrique Douglas Melo Coutinho ,&nbsp;Maria Flaviana Bezerra Morais Braga","doi":"10.1016/j.genrep.2025.102162","DOIUrl":"10.1016/j.genrep.2025.102162","url":null,"abstract":"<div><div>Antibiotics are crucial in treating infectious diseases, but bacterial resistance is a serious public health issue, increasing costs and prolonging treatments. <em>Staphylococcus aureus</em> (<em>S. aureus</em>), especially strain K2068, exhibits resistance through efflux pumps, complicating treatment. To combat this, alternatives such as thiadiazine derivatives, promising organic compounds with antimicrobial and pharmacological properties, are suggested. To assess the potential of thiadiazine derivatives against the MepA pump, direct antibacterial activity assays, antibiotic action modifying, and ethidium bromide assays, fluorimetry, molecular docking, and real-time quantitative PCR (RT-qPCR) were performed. Although direct evaluation proved ineffective, interaction with bromide and antibiotics showed promising results indicating derivative activity. The other assays performed corroborated with the results found in microbiological analyses, highlighting the down-regulation presented by compound IJ11, which reduced target gene activity by about 15 times. All tested methodologies confirmed the activity of thiadiazine derivatives as an ally of ciprofloxacin in combating this bacterial strain.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102162"},"PeriodicalIF":1.0,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143429219","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":"Comparison of vitrification techniques for the formation of the first skin biobank of lesser grison (Galictis cuja Molina, 1782): Insights into species genetic conservation","authors":"Leonardo Vitorino Costa de Aquino ,&nbsp;Samara Lima Olindo ,&nbsp;Yasmin Beatriz França Moura ,&nbsp;Karinne Yáscara Pereira Amorim ,&nbsp;Ana Carolina Souza Maia ,&nbsp;Ana Caroline Freitas Caetano de Sousa ,&nbsp;Carlos Iberê Alves Freitas ,&nbsp;Alexsandra Fernandes Pereira","doi":"10.1016/j.genrep.2025.102166","DOIUrl":"10.1016/j.genrep.2025.102166","url":null,"abstract":"<div><h3>Background</h3><div>Although skin vitrification is a tool used to create biobanks for wildlife, its appropriate use can vary in a species-specific manner. Since there are no studies on the conservation of lesser grison skin.</div></div><div><h3>Objective</h3><div>We proposed to assess two vitrification techniques on the <em>in vitro</em> dynamics of cells recovered from cryopreserved skin.</div></div><div><h3>Methods</h3><div><em>S</em>kin (9.0 mm³) was cryopreserved using solid-surface vitrification [SSV group] and direct vitrification in cryovials [DVC group]. Non-cryopreserved skin fragments were used as a control (control group). All fragments were assessed for morphology, viability, degree of apoptosis, population doubling time (PDT), metabolism, reactive oxygen species (ROS) levels, and mitochondrial potential (ΔΨm).</div></div><div><h3>Results</h3><div>No differences were observed between the groups regarding morphology and metabolism. However, only the cells from the DVC group exhibited viability and PDT rates similar to the control group (<em>p</em> &lt; 0.05). Both vitrification techniques, DVC and SSV, resulted in significant changes in apoptosis, ROS levels, and ΔΨm compared to the control group (<em>p</em> &lt; 0.05).</div></div><div><h3>Conclusion</h3><div>Although both vitrification techniques promote the recovery of lesser grison somatic cells, DVC maintained a more significant number of cell quality parameters than SSV. These results are the first steps toward forming biobanks of genetic resources in this species.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102166"},"PeriodicalIF":1.0,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143403330","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":"Two missense mutations (p.H63D and p.C282Y) in HFE gene elevate the risk of iron-overload in HbE/β-thalassemia disease","authors":"Motiur Rahaman ,&nbsp;Shatarupa Bhattacharya ,&nbsp;Ramya Vaddi ,&nbsp;Mandrita Mukherjee ,&nbsp;Doyel Mani ,&nbsp;Manisha Jain ,&nbsp;Tuphan Kanti Dolai ,&nbsp;Prantar Chakrabarti ,&nbsp;Shashank Purwar ,&nbsp;Bhavna Dhingra ,&nbsp;Praphulla Chandra Shukla ,&nbsp;Gayatri Mukherjee ,&nbsp;Budhaditya Mukherjee ,&nbsp;Nishant Chakravorty","doi":"10.1016/j.genrep.2025.102165","DOIUrl":"10.1016/j.genrep.2025.102165","url":null,"abstract":"<div><div>Iron-overload is reported to be one of the major complications associated with HbE/β-thalassemia. Studies show that iron overload is often associated with both, transfusion-dependent thalassemia (TDT) and non-transfusion dependent thalassemia (NTDT) patients. Our results demonstrate that iron overloading, which is a known complication in HbE/β-thalassemia, is further aggravated with the coinheritance of HFE mutations (H63D and C282Y) even in heterozygous state. In the present study, we provide evidence that HFE mutations, p.H63D and p.C282Y, are associated with iron-overload condition and may act as genetic predisposition factors, in elevating the risk of iron overload in Indian HbE/β-thalassemia patients. Furthermore, we also identified significant association between human leukocyte antigen (HLA) alleles such as HLA-C*07, DRB1*15, DQB1*05, etc. with HFE gene mutations. These data suggest the importance of epidemiological studies on complex genetic mutations in HbE/β-thalassemia patients, and are a valuable contribution to a perspective study on iron-overload in HbE/β-thalassemia disease. Additional studies should consider larger patient cohort to further validate these effects of HFE mutations on iron overload in HbE/β-thalassemia disease.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102165"},"PeriodicalIF":1.0,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143429218","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":"Clinical and genetic characterization of a novel pathogenic TSC1 variant in a familial case of tuberous sclerosis complex","authors":"Meiting Liang ,&nbsp;Shanshan Fan ,&nbsp;Feilong Wang ,&nbsp;Yide Wu ,&nbsp;Jingyue Cai ,&nbsp;Jinliang Li","doi":"10.1016/j.genrep.2025.102168","DOIUrl":"10.1016/j.genrep.2025.102168","url":null,"abstract":"<div><div>Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease. TSC exhibits significant genotypic and phenotypic heterogeneity. There are considerable differences in the clinical manifestations of the disease between patients in the same family or different families, resulting in a more complex clinical diagnosis. We analyzed the genotype and phenotype characteristics of a familial TSC through genetic testing. The causative genes are divided into <em>TSC1</em> and <em>TSC2</em> genes. Cases transmitted within families often result in mild to moderate illnesses, which sometimes fail to meet all diagnostic criteria, and exhibit a higher frequency of changes in the <em>TSC1</em> gene. We reported a novel pathogenic <em>TSC1</em> variant in a familial case of TSC. The principal clinical manifestations in both brothers included epilepsy, the presence of skin depigmentation spots, and developmental delay. The mother experienced sporadic convulsions and exhibited patches resembling those found on a shark's skin, but without depigmentation spots. Her intellectual and motor development were both normal. The father showed no signs of abnormal clinical symptoms. Genetic testing identified a novel pathogenic variant in the <em>TSC1</em> gene, which was present in both brothers and their mother but not in the father. This discovery not only broadened the understanding of the <em>TSC1</em> gene's mutation spectrum but also contributed to the discourse on the intricate connection between genotype and the clinical expression of TSC.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102168"},"PeriodicalIF":1.0,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143386308","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":"Human transferrin receptor gene polymorphism and its association with periodontitis and type 2 diabetes mellitus in south Indian population","authors":"Usha Subbiah ,&nbsp;Athira Ajith ,&nbsp;Nihala Sidhic ,&nbsp;Kaniha Sivakumar ,&nbsp;Shaik Bibijanu ,&nbsp;Hakeem Arishiya","doi":"10.1016/j.genrep.2025.102161","DOIUrl":"10.1016/j.genrep.2025.102161","url":null,"abstract":"<div><h3>Background</h3><div>Periodontitis, the gum disease breakdown the soft tissue and bone that supports the teeth. Type 2 diabetes mellitus (T2DM) is a metabolic disorder characterised by impaired insulin production. Periodontitis aggravates diabetes by increasing the inflammatory status. Transferrin receptor (<em>TFRC</em>) is a cell surface receptor required for iron uptake from a glycoprotein transferrin through receptor-mediated endocytosis. Host <em>genetic variants</em> play a major role in periodontal inflammation and T2DM, as they coexist as comorbidities.</div></div><div><h3>Aim</h3><div>To investigate the genetic association of <em>TFRC</em> upstream variant rs11915082 (G/A) and missense variant rs3817672 (C/T) in periodontitis and T2DM.</div></div><div><h3>Methods</h3><div>SNPs in the <em>TFRC</em> rs11915082 (G/A) and missense variant rs3817672 (C/T) were analysed by PCR RFLP. The study group included periodontitis (<em>n</em> = 100), T2DM (n = 100), periodontitis with T2DM (n = 100), and healthy control (n = 100). The genetic association of the variants of the comorbidity was confirmed by sequencing. Further <em>TFRC</em> wild type with rs11915082 and rs3817672 impact on mRNA's secondary structure, and its protein was docked with gingipain (Kgp) of <em>P. gingivalis</em> using in silico prediction analysis.</div></div><div><h3>Result</h3><div><em>TFRC</em> SNPs rs11915082 variant AA genotype was not significantly associated with risk of periodontitis and T2DM. However, rs3817672 heterozygous allele was a significant (<em>p</em>-value &lt; 0.05) carrier for disease risk and the variant allele T was significantly associated (odds ratio &gt; 1 with 95 % confidence interval) with the risk for periodontitis, T2DM and in comorbid subjects. Hence the heterozygous CT and homozygous variant TT genotypes of rs3817672 SNP exhibited as a risk SNP for both periodontitis and T2DM. The wild-type had better stability than rs3817672 and vice versa in the variant rs11915082. The molecular interacting residues were SER598.AC (<em>TFRC</em>) with ASP 603.AN (Kgp) of <em>P. gingivalis</em>.</div></div><div><h3>Conclusion</h3><div>The <em>TFRC</em> missense variant rs3817672 could be used as a therapeutic marker for disease prognosis/diagnosis in periodontitis and T2DM.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102161"},"PeriodicalIF":1.0,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421991","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":"Comparison between the effect of gentamicin and purified Lactobacillus salivarius exopolysaccharides on the biofilm formation and Pseudomonas aeruginosa Rh1I gene expression","authors":"Ayaat H. Abd,&nbsp;Ibtesam Ghadban Auda,&nbsp;Likaa Hamied Mahdi","doi":"10.1016/j.genrep.2025.102164","DOIUrl":"10.1016/j.genrep.2025.102164","url":null,"abstract":"<div><div>Antibiotics have long been the only option to treat infections and biofilm inhibition. Still, in recent decades' researchers have begun to look for alternatives to them, and this study is one of the studies that look for alternatives to antibiotics. This study aimed to investigate the effect of purified <em>Lactobacillus salivarius</em> Exopolysaccharides (EPS) on the gene expression of the <em>rhlI</em> Quorum sensing gene of <em>Pseudomonas aeruginosa</em> compared with gentamicin. The highest L. <em>salivarius</em> isolates EPS production was used for isolation and purification of EPS. The sub-MIC of EPS and gentamicin was determined and used to inhibit both <em>Pseudomonas aeruginosa</em> biofilm and <em>rh1I</em> gene expression. The results revealed that OD of the biofilm before treatment is significantly higher (<em>P</em> &lt; 0.001) in the <em>P. aeruginosa</em> isolates than after gentamicin treatment and after purified EPS treatment. Moreover, the biofilm inhibition with EPS treatment was significantly (<em>P</em> &lt; 0.001) more efficient than gentamicin treatment. The <em>rh1l</em> gene expression in <em>P. aeruginosa</em> isolates after EPS sub-MIC treatment was decreased more than after gentamicin sub-MIC treatment. Depending on the results obtained, the EPS may be considered, after the performance of some toxicological tests (like MTT assay, in vivo effect of the EPS and histopathological effect), as a possible alternative to some systemic or topical antibiotics or perhaps as a preservative instead of a chemical preservative.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"39 ","pages":"Article 102164"},"PeriodicalIF":1.0,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143464716","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":"Evaluation of the association between the PNPLA3 rs738409 variants with the incidence of atherosclerosis in patients with different fatty liver grades","authors":"Shaimaa Mohamed ,&nbsp;Ghada M. Salum ,&nbsp;Reham Ibrahim Siddik ,&nbsp;Sherif Hassan Elwan ,&nbsp;Ahmed Ibrahim Saleh ,&nbsp;Hamdi Sweilam ,&nbsp;Reham M. Dawood","doi":"10.1016/j.genrep.2025.102160","DOIUrl":"10.1016/j.genrep.2025.102160","url":null,"abstract":"<div><h3>Background</h3><div>The role of PNPLA3 gene is pivotal in lipid droplet remodeling, VLDL secretion, contributing to the development of NAFLD. The data obtained from GWAS approach reported the importance of PNPLA3 gene polymorphism as a key factor on influencing the NAFLD susceptibility among different ethnicities. PNPLA3 rs738409 risk allele G is hypothesized to be linked with high levels of soluble intercellular adhesion molecule 1 (sICAM-1) which promotes leukocyte adhesion ending with atherosclerosis. The current study aims to investigate the association between the PNPLA3 rs738409 variant in a cohort of NAFLD patients' concomitant with atherosclerosis.</div><div>One hundred NAFLD patients and fifty healthy individuals have been recruited. The atherosclerosis was assessed by Carotid Doppler. The PNPLA3 (rs738409 C &gt; G) polymorphism is genotyped by using TaqMan probe assay.</div></div><div><h3>Results</h3><div>Despite the lack of statistical significance, the CG carriers of PNPLA3 had an increased risk of having NAFLD (1.8 folds) when compared to CC carriers. Additionally, by classifying patients based on atherosclerosis grades, a significant association was found between the GG risk genotype of PNPLA3 and advanced stages of atherosclerosis (<em>p</em> = 0.014).</div></div><div><h3>Conclusions</h3><div>This study highlights the link between risk allele (G) of PNPLA3 and the risk for having NAFLD, as well as the correlation with advanced atherosclerosis among Egyptian subjects. Also, our findings did not support a direct association between the histological severity of NAFLD and the progression of atherosclerosis stages.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102160"},"PeriodicalIF":1.0,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143386914","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":"Detection of a caf1 gene homolog associated with Yersinia pestis in rodent spleen samples in Lorestan Province, Iran","authors":"Mohammad Hassan Kayedi ,&nbsp;Saber Esmaeili ,&nbsp;Hossein Ahangari Cohan ,&nbsp;Ahmad Mahmoudi ,&nbsp;Ahmad Ghasemi ,&nbsp;Neda Baseri ,&nbsp;Asadollah Hosseini Chegeni ,&nbsp;Mahdi Rohani ,&nbsp;Ali Mohammadi ,&nbsp;Anne Derbise ,&nbsp;Abdolrazagh Hashemi Shahraki ,&nbsp;Ehsan Mostafavi","doi":"10.1016/j.genrep.2025.102158","DOIUrl":"10.1016/j.genrep.2025.102158","url":null,"abstract":"<div><div>This study aimed to investigate the presence of genes associated with <em>Yersinia pestis</em>, in rodents from plague reservoir environment in Lorestan Province, Iran.</div><div>In 2016 and 2017, rodents were trapped, and ectoparasites from their body surfaces were collected. DNA was extracted from the spleens of the rodents, and quantitative real-time polymerase chain reaction (qPCR) targeted the <em>pla</em> (pPCP1), <em>caf1</em> (pMT1), and <em>yihN</em> genes, while conventional PCR was amplified the <em>yihN</em>, <em>ymt</em>, <em>inv</em>, and <em>fur</em> genes. IgG antibodies against the F1 capsular antigen of <em>Y. pestis</em> were assessed using enzyme-linked immunosorbent assay (ELISA), and specimens from the second year were cultured to isolate <em>Y. pestis</em>.</div><div>The most frequently captured rodent was <em>Meriones persicus</em> (49.59 %), followed by <em>Mus. macedonicus</em> (17.88 %). Of the 234 ectoparasites found, 174 were fleas (170 from <em>Xenopsylla</em> and 4 from <em>Paradoxopsyllus</em> and 60 were ticks from the <em>Hyalomma</em> genus. Four rodent spleen samples (one <em>M. persicus</em>, one <em>Mus. macedonicus</em>, and two <em>Microtus</em> spp.) tested positive for the <em>caf1</em> gene homolog, but other genes associated with <em>Y. pestis</em> (<em>pla</em>, <em>yihN</em>, <em>ymt</em>, <em>inv</em>, and <em>fur</em>), IgG antibodies against the F1 antigen of <em>Y. pestis</em>, and culture tests were negative.</div><div>The presence of the <em>caf1</em> gene, along with the absence of other <em>Y. pestis</em> genes and negative serology results, suggests identification of <em>caf1</em> gene homolog, associated with <em>Y. pestis</em> in an unknown organism. Resource constraints limit our ability to conduct further tests for precise identification. Further studies should focus on additional tests to comprehensively identify the organism linked to the positive <em>caf1</em> result.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102158"},"PeriodicalIF":1.0,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143377624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"In silico elucidation and network pharmacology analysis of phytochemicals from Elephantorrhiza elephantina and Pentanisia prunelloides for antitubercular activity","authors":"Alaiha Zaheen ,&nbsp;Pinki Francina Lefalo ,&nbsp;Sanchaita Rajkhowa ,&nbsp;Subrata Sinha","doi":"10.1016/j.genrep.2025.102155","DOIUrl":"10.1016/j.genrep.2025.102155","url":null,"abstract":"<div><div>Tuberculosis (TB), caused by <em>Mycobacterium tuberculosis</em> (<em>Mtb</em>), remains a global health challenge, exacerbated by drug-resistant strains. Phytochemicals, bioactive compounds from plants, offer a promising avenue for new drug development due to their diverse biological activities. This study focuses on two traditional medicinal plants, <em>Elephantorrhiza elephantina</em> and <em>Pentanisia prunelloides</em>, to identify potential anti-tuberculosis compounds. The compounds were initially evaluated for drug-likeness, followed by ADMET (absorption, distribution, metabolism, excretion, and toxicity) screening. Five compounds meeting these criteria were selected for further analysis. The 3D structures of these compounds were analyzed using PharmMapper to identify potential protein targets, focusing on those relevant to <em>Mycobacterium tuberculosis</em>. Protein-protein interaction networks were analyzed using STRING and Cytoscape to identify key hub genes. Additionally, KEGG pathway analysis was conducted with KOBAS to elucidate the biological processes, molecular functions, and cellular components involved. Homology modeling was performed using ITASSER to predict the 3D structure of target proteins. Finally, molecular docking studies were carried out to evaluate the binding interactions between the selected compounds and the MurF protein of <em>Mycobacterium tuberculosis</em>, followed by molecular dynamics simulations to assess the stability and conformational changes of the resulting protein-ligand complex over time. Among the compounds, arabinose (CID439195) demonstrated the strongest binding affinity to MurF, suggesting its potential as an anti-TB agent. These findings suggest that <em>Elephantorrhiza elephantina</em> and <em>Pentanisia prunelloides</em> hold significant potential for the development of new anti-tuberculosis therapies. This study underscores the importance of integrating computational approaches in drug discovery and highlights the promising role of phytochemicals in addressing global health challenges such as tuberculosis.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102155"},"PeriodicalIF":1.0,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134930","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":"The effectiveness of genetic markers and the role of environmental factors in hip dysplasia and osteochondritis dissecans of the shoulder in German Shepherd, Labrador Retriever, and German Wirehaired Pointer (Deutsch Drahthaar) dogs","authors":"Sena Ardicli ,&nbsp;Pelin Yigitgor ,&nbsp;Dogukan Ozen ,&nbsp;Huseyn Babayev ,&nbsp;Berkay Bozkurt ,&nbsp;Nursen Senturk ,&nbsp;Ezgi Irem Bektas ,&nbsp;Ozge Ardicli ,&nbsp;Stephen Skolnick ,&nbsp;Mehmet Pilli ,&nbsp;Hakan Salci ,&nbsp;Deniz Seyrek Intas","doi":"10.1016/j.genrep.2025.102153","DOIUrl":"10.1016/j.genrep.2025.102153","url":null,"abstract":"<div><div>Canine Hip Dysplasia (CHD) is the most frequently diagnosed orthopedic condition in dogs. Similar to CHD, <em>osteochondritis dissecans</em> (OCD) of the shoulder is a developmental disorder in dogs that significantly impacts animal welfare. As polygenic genetic disorders, they exhibit a complex mode of inheritance. Although there are numerous clinical studies, there is insufficient information about the genetic basis of these disorders. Therefore, this study aimed to assess the relationship of the prognostic genetic test markers with CHD and OCD in German Shepherd, Labrador Retriever, and German Wirehaired Pointer dogs.</div><div>We evaluated the efficiency of five SNP markers from the prognostic genetic test for CHD (the Dysgen test) based on available GWAS data in German Shepherd, Labrador Retriever, and German Wirehaired Pointer dogs. Radiographs were captured and assessed according to the official FCI scale for hip dysplasia. In German Wirehaired Pointers, shoulder X-ray evaluations were also performed. We used custom FRET-based primer probes in Real-time PCR and Sanger sequencing for genotyping and tested the evaluation using multiple logistic regression procedures. German shepherds emerged as the most vulnerable to CHD (<em>P</em> &lt; 0.001). In the final logistic model, females are expected to have a 3.54 times higher likelihood of experiencing CHD compared to males (<em>P</em> &lt; 0.05). SNP BICF2G630558239 demonstrated a notable association with CHD, indicating that the GG genotype poses a risk. This SNP is situated in the intronic region of the <em>KIF26B</em> gene, a member of the kinesin superfamily implicated in evolutionarily conserved roles in embryogenesis. We did not observe any association between shoulder OCD-related arthrosis and the SNPs studied.</div><div>These results may contribute to understanding CHD by identifying genotypes associated with epidemiological risk, prompting the need to conduct more thorough investigations.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102153"},"PeriodicalIF":1.0,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134931","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}