Gene ReportsPub Date : 2025-01-10DOI: 10.1016/j.genrep.2025.102134
Muhammad Zahid Farooq , Abdur Rahman Ansari
{"title":"Transcriptomic analysis reveals the effect of leucine deprivations and starvation on glucose and lipid metabolism on mice liver","authors":"Muhammad Zahid Farooq , Abdur Rahman Ansari","doi":"10.1016/j.genrep.2025.102134","DOIUrl":"10.1016/j.genrep.2025.102134","url":null,"abstract":"<div><div>Leucine, one of the branched-chain amino acids (BCAAs), is not only a nutritional substrate for cellular metabolism, but also a signaling molecule, mediating a number of biological activities. Energy-metabolic responses are among the complicated metabolic reactions triggered by starvation in which the liver plays a crucial role. As a result of hunger, several genes were changed in the livers of mice, suggesting a general reduction in cellular activity. Focusing on better recognizing the significant candidate genes and their functional pathways affected by leucine deprivation and starvation, a relative transcriptome investigation was performed between control versus leucine deprived and starvation mice groups. Taking it all into consideration, 841 genes were identified as DEGs, including 544 up- and 297 down-regulated genes after leucine deprivation and 1174 DEGs were identified after starvation, out of which 354 were up-regulated while 820 were down-regulated. Many GO terms and KEGG pathways relevant to glucose and lipid metabolism are heavily influenced by functional enrichment investigation, which dominates the field, suggesting the potential relationship between control versus leucine and starvation groups affecting the glucose and lipid metabolism. Furthermore, the expression levels of selected genes were confirmed using qRT-PCR. Together, transcriptome profiling of leucine deprived and starved mouse liver reveals the links with the glucose and lipid metabolism. Hence, the current findings offer a great service and publically accessible novel database of changed gene profiles in the livers of mice during the first 24 h of fasting and leucine deprivation.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102134"},"PeriodicalIF":1.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134520","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}
Gene ReportsPub Date : 2025-01-08DOI: 10.1016/j.genrep.2025.102133
Chenxia Xu , Chunhua Lai , Sheng Zhang , Chouju Zhuang , Kunyi Deng , Shengping Xiao
{"title":"Bernard-Soulier syndrome case caused by novel compound heterozygous variants in the GP1BA gene: Case report","authors":"Chenxia Xu , Chunhua Lai , Sheng Zhang , Chouju Zhuang , Kunyi Deng , Shengping Xiao","doi":"10.1016/j.genrep.2025.102133","DOIUrl":"10.1016/j.genrep.2025.102133","url":null,"abstract":"<div><div>Bernard-Soulier Syndrome (BSS) is a rare bleeding disorder characterized by macrothrombocytopenia and mucocutaneous bleeding, arising from defects in the glycoprotein Ib-IX-V complex. While several variations in the <em>GP1BA</em> gene are known to cause BSS, compound heterozygous mutations remain uncommon. This study used Whole Exome Sequencing (WES) and targeted Sanger sequencing to investigate the genetic basis of BSS in a pediatric patient with unexplained bleeding symptoms, supported by flow cytometry, platelet aggregation, and blood smear analyses. We identified novel compound heterozygous variations, c.656A>T (p.H219L) and c.987G>A (p.W329X), which significantly affected the expression and function of the glycoprotein complex, consistent with typical BSS features. These findings expand our understanding of the genetic diversity in BSS and emphasize the importance of comprehensive genetic testing in cases of unexplained bleeding disorders, underscoring the value of advanced diagnostics for effective management of rare hematological conditions.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102133"},"PeriodicalIF":1.0,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143135488","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":"Investigation of MTHFR, NR5A1 gene polymorphisms in association with infertility in couples: A case-control and in silico study","authors":"Mandeep Kaur , Rajinder Kaur , Harmanpreet Singh Kapoor , Kiran Chhabra , Preeti Khetarpal","doi":"10.1016/j.genrep.2025.102128","DOIUrl":"10.1016/j.genrep.2025.102128","url":null,"abstract":"<div><div>Polymorphisms in the genes that encode folate related enzymes are potential risk factors for infertility. Several studies have suggested that genetic polymorphisms in <em>MTHFR</em> and <em>NR5A1</em> genes may play a significant role in the pathophysiology of infertility. Still the results are contradictory and further, no study has been reported from Malwa region of Punjab. The present study aimed to investigate the association of genetic variants in the <em>MTHFR</em> (C677T, A1298C), <em>NR5A1</em> (A66G) genes and the risk of infertility. A case-control study was conducted on 197 male subjects, with 92 cases and 105 controls; and 197 female subjects, with 96 cases and 101 controls. Genotyping was performed by polymerase chain reaction-restriction length polymorphism (PCR-RFLP) and confirmed by Sanger sequencing. Genotype-tissue expression was observed using GTEx portal. To evaluate the deleterious SNP prediction six in silico tools (I-Mutant 2.0, PolyPhen-2, SNPs & GO, SIFT, RegulomeDB and CADD) were used. A significant difference was observed between cases and controls for <em>MTHFR</em> A1298C among females. <em>MTHFR</em> A1298C gene variant was associated with increased risk of primary and secondary infertility among females. <em>NR5A1</em> A66G gene variant is associated with decreased risk of primary infertility among males. <em>MTHFR</em> C677T, A1298C and <em>NR5A1</em> A66G are found to decrease the stability of protein. Genetic variants in the <em>MTHFR</em> gene (A1298C) and <em>NR5A1</em> (A66G) could be an important predisposing genetic factor to infertility. However, further studies are needed to confirm the findings in large sample size.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102128"},"PeriodicalIF":1.0,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134519","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":"Differential expression and pathological implications of Linc01089 and Linc01578 in acute myeloid leukemia","authors":"Zahra Khosroabadi , Mohammadreza Sharifi , Mansour Salehi , Valiollah Mehrzad","doi":"10.1016/j.genrep.2025.102129","DOIUrl":"10.1016/j.genrep.2025.102129","url":null,"abstract":"<div><h3>Background</h3><div>Acute myeloid leukemia (AML) is a type of blood cancer that has an outlook emphasizing the importance of finding treatment targets. This research delves into the differences in expression of different types of coding RNAs in AML, specifically focusing on Linc01089 and Linc01578.</div></div><div><h3>Methods</h3><div>We carried out an analysis using AML datasets to pinpoint non-coding RNAs showing significant expression differences. Subsequently, we used PCR (qPCR) on samples from AML patients and healthy individuals to validate our discoveries. Furthermore, we used weighted gene co-navigation analysis (WGCNA) to investigate the pathways and key genes associated with these non-coding RNAs.</div></div><div><h3>Results</h3><div>Our analysis revealed a decrease in the levels of Linc01089 and Linc01578 in AML samples compared to those from individuals. The qPCR validation supported these findings by showing expression levels in AML patients. Because of WGCNA, we found pathways related to disease, such as mismatch repair, cell cycle regulation, and p53 signaling, that these coding RNAs might affect. Additionally, we figured out 20 genes closely linked to Linc01089 and Linc01578. We established a protein-protein interaction (PPI) network to gain a deeper understanding of their roles in AML.</div></div><div><h3>Conclusions</h3><div>While proposing their involvement in cancer-causing pathways, our study emphasizes the reduction of Linc01089 and Linc01578 in AML cases. This discovery lays the groundwork for exploration into how these lncRNAs could serve as targets for interventions in AML.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102129"},"PeriodicalIF":1.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134516","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}
Gene ReportsPub Date : 2025-01-06DOI: 10.1016/j.genrep.2025.102130
Samira Dortaj , Mohammad Ali Sadighi Gilani , Marjan Sabbaghian
{"title":"Genetic investigations of SEPTIN12 gene in infertile men with acephalic sperm syndrome","authors":"Samira Dortaj , Mohammad Ali Sadighi Gilani , Marjan Sabbaghian","doi":"10.1016/j.genrep.2025.102130","DOIUrl":"10.1016/j.genrep.2025.102130","url":null,"abstract":"<div><div>Acephalic sperm syndrome represents a rare form of teratozoospermia with significant implications for male fertility. It is characterized by sperm displaying headless flagella, heads lacking flagella, or abnormal head-to-flagella connections, all resulting from genetic factors. Among the genes implicated in this syndrome is <em>SEPTIN12</em>, crucial for the final differentiation of male germ cells, particularly expressed in the head, neck, and sperm annulus post-meiosis. In the present study, genetic variations within exons 5, 6, and 7 of the <em>SEPTIN12</em> gene in patients with acephalic sperm syndrome were investigated, using DNA sequencing on 20 cases. Notably, a homozygous pathogenic single nucleotide variant, c.474G>A, in exon 5 of the <em>SEPTIN12</em> gene was identified in an individual of Iranian descent affected by acephalic sperm syndrome. No variation was found in exons 6 and 7 of the <em>SEPTIN12</em> gene in cases and controls. According to previous studies, this synonymous nucleotide change may lead to the production of a truncated protein, potentially contributing to the development of acephalic sperm syndrome.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102130"},"PeriodicalIF":1.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134518","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}
Gene ReportsPub Date : 2025-01-06DOI: 10.1016/j.genrep.2025.102132
Ali Naghiloo , Jalal Gharesouran , Shadi Shiva , Vahid Pourabdollah , Ali Reyhanian , Soudeh Ghafouri-Fard , Maryam Rezazadeh
{"title":"Compound heterozygous mutations in ADSL gene in a patient with autism spectrum disorder and epilepsy","authors":"Ali Naghiloo , Jalal Gharesouran , Shadi Shiva , Vahid Pourabdollah , Ali Reyhanian , Soudeh Ghafouri-Fard , Maryam Rezazadeh","doi":"10.1016/j.genrep.2025.102132","DOIUrl":"10.1016/j.genrep.2025.102132","url":null,"abstract":"<div><div>Adenylosuccinate lyase (ADSL) deficiency is an inherited metabolic disorder that is classified into three categories with specific age of onset and severity of symptoms, namely fatal neonatal form, type I and type II. In our study, one Turkish client, with the clinical diagnosis of epilepsy, which presented with autism spectrum symptoms, generalized seizures, psychomotor retardation, slowing of thought and physical movement, muscle weakness and speech problems, was sequenced by whole exome sequencing (WES). Subsequently, a standard interpretation of the identified variants was performed referring to the recently updated guidelines. Finally, we identified two variants (NM_000026:exon12:c.C1354T:p.R452C and NM_000026:exon9:c.G1010A: p.R337Q) in <em>ADSL</em> gene. In summary, our findings suggested possible role of these variants as the underlying cause of ADSL deficiency.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102132"},"PeriodicalIF":1.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134595","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}
Gene ReportsPub Date : 2025-01-06DOI: 10.1016/j.genrep.2025.102131
Tania Souza de Liz , Ana Gabriela Rosa , Mariana Martins Vernaschi , Júlia Cisilotto , Tânia Beatriz Creczynski-Pasa
{"title":"Differential expression of microRNAs in a patient with B-cell acute lymphoblastic leukemia with TCF3-PBX1 gene fusion resulting from t(1;19)(q23;p13.3) translocation: A case report","authors":"Tania Souza de Liz , Ana Gabriela Rosa , Mariana Martins Vernaschi , Júlia Cisilotto , Tânia Beatriz Creczynski-Pasa","doi":"10.1016/j.genrep.2025.102131","DOIUrl":"10.1016/j.genrep.2025.102131","url":null,"abstract":"<div><div>B-cell Acute Lymphoblastic Leukemia (B-ALL) is a hematologic disease characterized by the uncontrolled proliferation of B lymphoid precursor cells in the bone marrow. The t(1;19)(q23;p13) translocation with TCF3-PBX1 fusion is one of the most common rearrangement in children with B-ALL, occurring in approximately 6 % of the cases. The detection of genetic abnormalities is an important factor in these events, helping to elucidate prognosis, as well as to determine the treatment to be followed. Small RNA molecules capable of regulating gene expression, called microRNAs (miRNAs), play an important role in cell development and consequently are also involved in tumor development. The expression of miRNAs has been widely studied as biomarkers of several neoplasms, including the differential ones, which can identify genetic subtypes of the same disease. For this reason, this work reports a miRNA expression profile of a patient with childhood B-ALL diagnosed with TCF3-PBX1 rearrangement originated from t(1;19)(q23;p13.3) to identify miRNAs that might be involved in such translocation. As result, 29 miRNAs were shown to be differentially expressed (<em>p</em> < 0.0001, fold change >100) when compared to healthy controls. Among these miRNAs, miR-34a-5p, miR-708-5p, and miR-128-3p were overexpressed in the patient studied, which corroborates findings in the literature for patients with B-ALL without translocation specification. Conversely, miR-765, miR-455-3p, and miR-4697-5p were described for the first time in relation to B-ALL cases.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102131"},"PeriodicalIF":1.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143135493","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}
Gene ReportsPub Date : 2024-12-27DOI: 10.1016/j.genrep.2024.102127
Xiaohui Jin , Helin Jiang , Haizhong Jiang , Xuguang Wang , Yi Chen , Jiyun Zhu , Hequn He
{"title":"Exploring of prognostic biomarkers in elderly gastric cancer by neoadjuvant therapy: Insights from differential gene screening, mutation analysis, and immune profiling","authors":"Xiaohui Jin , Helin Jiang , Haizhong Jiang , Xuguang Wang , Yi Chen , Jiyun Zhu , Hequn He","doi":"10.1016/j.genrep.2024.102127","DOIUrl":"10.1016/j.genrep.2024.102127","url":null,"abstract":"<div><div>Elderly gastric cancer is a high-risk population among all gastric cancer patients. However, there is still limited research on this group of gastric cancer patients, and further exploration is needed. In this study, differential gene screening and enrichment analysis, gene mutation analysis, clinical characteristic study, tumor-related signaling pathway calculation, tumor stemness analysis, immune correlation calculation, clinical prognosis model construction, drug sensitivity prediction, and in vitro cell validation experiments were conducted. Potential first four genes CST1, CLDN3, TOP2A, and MYBL2 were identified through differential gene screening and enrichment analysis. Subsequently, the results showed that the main mutation types of these four genes were missense mutations and splice-site mutations. Furthermore, gastric cancer patients with high expression of these four genes had lower overall survival time compared to those with low expression, and they were mainly concentrated in stage T3N1M0, with a higher probability of postoperative metastasis than recurrence. Additionally, all four genes showed a positive correlation with key regulatory genes in the DNA damage signaling pathway, and there were statistical differences. On the other hand, CLDN3, TOP2A, and MYBL2 were positively correlated with tumor stemness index, while CST was negatively correlated. At the immune level, T cells and Macrophage cells were found in samples with high expression of the four genes, while other immune cells appeared to varying degrees in the four gene high expression group. Finally, in the clinical prediction model, only CLDN3 showed good prognostic ability. In terms of chemotherapeutic drug sensitivity prediction and in vitro cell validation experiments, patients with high expression of CST1, TOP2A, and MYBL2 may develop drug resistance after re-chemotherapy, while patients with high expression of CLDN3 can continue to benefit from the original chemotherapy regimen. This study provides new predictive biomarkers and possible molecular mechanisms for elderly gastric cancer patients receiving neoadjuvant therapy.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102127"},"PeriodicalIF":1.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143135492","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}
Gene ReportsPub Date : 2024-12-21DOI: 10.1016/j.genrep.2024.102122
Nesreen M. Aboraia , Aliaa A. Ali , Amal T. Abdel-Rahman , Omayma O. Abdelaleem
{"title":"Serum interleukin-37 and its gene polymorphism (rs3811047) in Egyptian patients with alopecia areata","authors":"Nesreen M. Aboraia , Aliaa A. Ali , Amal T. Abdel-Rahman , Omayma O. Abdelaleem","doi":"10.1016/j.genrep.2024.102122","DOIUrl":"10.1016/j.genrep.2024.102122","url":null,"abstract":"<div><h3>Background</h3><div>Alopecia areata (AA) is an immune-mediated disorder that manifests by non-scarring hair loss. Interleukin (IL)-37 is an anti-inflammatory cytokine that plays a main role in autoimmune disease.</div></div><div><h3>Subjects and methods</h3><div>This study incorporated 40 alopecia areata patients and 45 healthy individuals as control group. Serum IL-37 levels were measured in all patients and control group by <strong>Enzyme-Linked Immunosorbent Assay</strong> (ELISA) technique and its gene polymorphism (rs3811047) was assessed using real-time polymerase chain reaction (RT-PCR).</div></div><div><h3>Results</h3><div>Serum IL-37 level was elevated in alopecia areata patients compared with controls in a statistically significant manner. Also, significant positive correlation was found between Severity of Alopecia Tool (SALT) score and serum level of IL-37(<em>r</em> = 0.371, <em>p</em> = 0.018). Furthermore, IL-37 level was significantly elevated in patients with SALT score severity (S2–4) as well as in patients with severe degree of AA (<em>p</em> = 0.049 and <em>p</em> = 0.006, respectively).</div><div>Regarding IL-37gene polymorphism (rs3811047), no significant relation between various genotypes of rs3811047 and risk of AA disease was detected. Conclusion: Serum IL-37 mostly affects pathophysiology of alopecia areata and correlates with the severity of the condition. IL-37 gene polymorphism (rs3811047) has not been associated with the abovementioned disease.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102122"},"PeriodicalIF":1.0,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134515","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":"Whole exome sequencing based coding variation in nasopharyngeal cancer from tribal population of North-East India","authors":"Sudip Kumar Ghosh , Raima Das Kundu , Sankar Kumar Ghosh","doi":"10.1016/j.genrep.2024.102126","DOIUrl":"10.1016/j.genrep.2024.102126","url":null,"abstract":"<div><div>Genome-wide association studies (GWAS) have emerged due to the advent of high-throughput genotyping tools in the study of genetic architecture. Next-generation sequencing techniques, particularly whole exome sequencing (WES) in single nucleotide polymorphism (SNP) analysis, have been used to identify unusual coding variations. Across various demographic groups worldwide, coding differences have varied impacts on the evolution of NPC. However, certain loci related to NPC susceptibility are shared by multiple population types, with the North Eastern (NE) region exhibiting ethnicity-specific cancer variations. In this study, we focused on the major North Eastern tribal populations (Mizoram, Manipur, and Nagaland) to identify NPC-focused germline coding variations through WES. To better understand the genetic association of coding variants with NPC, WES was performed on 15 samples from affected patients and healthy individuals from three different ethnic groups (N = 9 cases and N = 6 controls). Variants were called using the Ion Proton™ platform, and case-control variants were screened for their association studies. All variants were filtered using Haploview, and PLINK software was used to assess the statistical significance of the passed case-control variants. Furthermore, the filtered variants, along with significant variants, were analyzed using different bioinformatics tools and compared with other clinical databases. A total of 60,387 (61.50 %) variations were discovered, of which 578 (p-value ≤0.05) were determined to be significant coding variants. These variants were then processed and filtered using several in silico techniques. The coding regions (exonic) of 10 genes, including <em>CR1</em>, <em>GBP3</em>, <em>QPCT</em>, <em>ADGRV1</em>, <em>ADGB</em>, <em>ALG9</em>, <em>DLAT</em>, <em>CCT6B</em>, <em>GP6</em>, and <em>LRRN4</em>, revealed ten SNPs, all of which are thought to be strongly linked with the NPCs of the three main NER tribes. It is anticipated that protein stability varies as a result of mutation, based on different in silico software such as I-mutant 3.0, MUpro, MutPred, Consurf, Netsurf 3.0, ProtParam tool, and HOPE, where the protein's structural and functional analyses are verified. Nearly all of the 10 nsSNPs exhibit intolerant alterations, indicating their functional significance in crucial areas and potential impact on the stability and function of the corresponding protein. In comparison to the current accepted genetic testing methodology, our work reveals greater sensitivity and specificity for the identification of harmful germline mutations.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"38 ","pages":"Article 102126"},"PeriodicalIF":1.0,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143134517","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}