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Morphological, Biochemical, and Molecular Diversity Assessment of Egyptian Bottle Gourd Cultivars 埃及瓶葫芦栽培品种的形态、生化和分子多样性评估
IF 1.5 4区 生物学
Genetics research Pub Date : 2024-01-03 DOI: 10.1155/2024/4182158
Ehab A. Ibrahim, H. Alhaithloul, Sahar A. M. Shamseldin, S. B. Awaly, Abd El-Latif Hesham, Mohamed F. M. Abdelkader, M. M. Alqahtani, F. Alzuaibr, Abdulrahman Alasmari, Noha A. Sukar, Mohamed Z. Diyasty, M. A. Abdein
{"title":"Morphological, Biochemical, and Molecular Diversity Assessment of Egyptian Bottle Gourd Cultivars","authors":"Ehab A. Ibrahim, H. Alhaithloul, Sahar A. M. Shamseldin, S. B. Awaly, Abd El-Latif Hesham, Mohamed F. M. Abdelkader, M. M. Alqahtani, F. Alzuaibr, Abdulrahman Alasmari, Noha A. Sukar, Mohamed Z. Diyasty, M. A. Abdein","doi":"10.1155/2024/4182158","DOIUrl":"https://doi.org/10.1155/2024/4182158","url":null,"abstract":"The genetic variability and relationships between ten bottle gourd cultivars were evaluated based on morphological, biochemical, and molecular parameters. The results displayed high variability among selected cultivars in terms of photosynthetic pigments, total free amino acids, total phenol content, isozymes pattern, and protein electrophoresis. Furthermore, differences in molecular markers were revealed by the SCoT technique. The peroxidase (POD) and polyphenyl oxidase (PPO) isozymes patterns did not detect significant differences in bands among cultivars. The protein patterns revealed seventeen bands ranging from 126 to 9 kDa and five polymorphic bands representing 29.41%. On the other hand, eight SCoT primers were used to evaluate the genetic variability and relationships between the ten Egyptian bottle gourd cultivars. The results of SCoT analysis detected 44 amplicons with 50% polymorphism. In addition, the results of the phylogenetic tree that is constructed based on the similarity coefficient revealed by SCoT analysis confirm the results of biochemical analysis indicating a genetic relationship between the most efficient bottle gourd cultivars (S1 and S2 cultivars). In addition, there is a genetic relationship among the less efficient bottle gourd cultivars (S4 and S5 cultivars). These results could be beneficial to distinguish among bottle gourd cultivars in the plant breeding programs.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"16 11","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139389602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Integrated Analysis of Single-Cell RNA-Seq and Bulk RNA-Seq Unravels the Molecular Feature of Tumor-Associated Macrophage of Acute Myeloid Leukemia. 单细胞RNA-Seq和大量RNA-Seq的综合分析揭示了急性髓性白血病肿瘤相关巨噬细胞的分子特征
IF 1.4 4区 生物学
Genetics research Pub Date : 2024-01-02 eCollection Date: 2024-01-01 DOI: 10.1155/2024/5539065
Xin Gao
{"title":"Integrated Analysis of Single-Cell RNA-Seq and Bulk RNA-Seq Unravels the Molecular Feature of Tumor-Associated Macrophage of Acute Myeloid Leukemia.","authors":"Xin Gao","doi":"10.1155/2024/5539065","DOIUrl":"10.1155/2024/5539065","url":null,"abstract":"<p><strong>Background: </strong>The association between acute myeloid leukemia (AML) and macrophage remains to be deeply explored.</p><p><strong>Methods: </strong>Gene expression profiles and clinical variable characteristics of AML patients were collected from TCGA, GEO, and TARGET databases. Consensus clustering was employed to construct the macrophage-related clusters. The macrophage-related index (MRI) was constructed using the LASSO and multivariate Cox analysis. The GSE71014 and TARGET datasets were utilized as external validation sets. Single-cell sequencing data for AML (GSE116256) was adopted to analyze modeled gene expression levels in cells.</p><p><strong>Results: </strong>Two macrophage-related clusters with different prognostic and immune infiltration characteristics were constructed in AML. Cluster B had a poorer prognosis, more cancer-promoting pathway enrichment, and an immunosuppressive microenvironment. Relied on the MRI, patients of different groups showed different levels of immune infiltration, different mutations, and prognoses. LGALS1 and BCL2A1 may play roles in promoting cancer in AML, while ELANE may have a significant effect on suppressing cancer.</p><p><strong>Conclusion: </strong>Macrophage-related genes (MRGs) had significant impacts on the occurrence and progression of AML. MRI may better evaluate the prognosis and immune features of AML patients.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2024 ","pages":"5539065"},"PeriodicalIF":1.4,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10776189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139416831","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}
引用次数: 0
Multidimensional Analysis of PANoptosis-Related Molecule CASP8: Prognostic Significance, Immune Microenvironment Effect, and Therapeutic Implications in Hepatocellular Carcinoma 肝细胞凋亡相关分子 CASP8 的多维分析:肝细胞癌的预后意义、免疫微环境效应和治疗意义
IF 1.5 4区 生物学
Genetics research Pub Date : 2023-12-30 DOI: 10.1155/2023/2406193
Fei Peng, Fang Zhu, Baodi Cao, Liang Peng
{"title":"Multidimensional Analysis of PANoptosis-Related Molecule CASP8: Prognostic Significance, Immune Microenvironment Effect, and Therapeutic Implications in Hepatocellular Carcinoma","authors":"Fei Peng, Fang Zhu, Baodi Cao, Liang Peng","doi":"10.1155/2023/2406193","DOIUrl":"https://doi.org/10.1155/2023/2406193","url":null,"abstract":"Background. Hepatocellular carcinoma (HCC) presents significant challenges in diagnosis and treatment. Understanding the role of PANoptosis-related molecules in HCC is crucial for advancing therapeutic strategies. Methods. We conducted a comprehensive analysis using public data from the Cancer Genome Atlas, Human Protein Atlas, Tumor Immune Single Cell Hub, and STRING databases. Techniques included Kaplan–Meier survival curves, Cox regression, LASSO analysis, and various computational methods for understanding the tumor microenvironment. We also employed ClueGO, gene set enrichment analysis, and other algorithms for biological enrichment analysis. Results. CASP8 emerged as a significant molecule in HCC, correlated with poor survival outcomes. Its expression was predominant in the nucleoplasm and cytosol and varied across different cancer types. Biological enrichment analysis revealed CASP8’s association with critical cellular activities and immune responses. In the tumor microenvironment, CASP8 showed correlations with various immune cell types. A nomogram plot was developed for better clinical prognostication. Mutation analysis indicated a higher frequency of TP53 mutations in patients with elevated CASP8 expression. In addition, CASP8 was found to regulate YEATS2 in HCC, highlighting a potential pathway in tumor progression. Conclusions. Our study underscores the multifaceted role of CASP8 in HCC, emphasizing its prognostic and therapeutic significance. The regulatory relationship between CASP8 and YEATS2 opens new avenues for understanding HCC pathogenesis and treatment strategies.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":" 10","pages":""},"PeriodicalIF":1.5,"publicationDate":"2023-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139140333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19. 人类血管紧张素转换酶 2 的基因变异与对冠状病毒疾病-19 的易感性。
IF 1.4 4区 生物学
Genetics research Pub Date : 2023-11-29 eCollection Date: 2023-01-01 DOI: 10.1155/2023/2593199
Taravat Talebi, Tannaz Masoumi, Katayoun Heshmatzad, Mahshid Hesami, Majid Maleki, Samira Kalayinia
{"title":"Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19.","authors":"Taravat Talebi, Tannaz Masoumi, Katayoun Heshmatzad, Mahshid Hesami, Majid Maleki, Samira Kalayinia","doi":"10.1155/2023/2593199","DOIUrl":"10.1155/2023/2593199","url":null,"abstract":"<p><strong>Background: </strong>Health and economies are both affected by the coronavirus disease-19 (COVID-19) global pandemic. Angiotensin-converting enzyme 2 (<i>ACE2</i>) is a polymorphic enzyme that is a part of the renin-angiotensin system, and it plays a crucial role in viral entry. Previous investigations and studies revealed that severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and <i>ACE2</i> have a considerable association. Recently, <i>ACE2</i> variants have been described in human populations in association with cardiovascular and pulmonary conditions. In this study, genetic susceptibility to COVID-19 in different populations was investigated.</p><p><strong>Methods and results: </strong>We evaluated the identified variants based on the predictive performance of 5 deleteriousness-scoring methods and the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines. The results indicated 299 variants within the <i>ACE2</i> gene. The variants were analyzed by different <i>in-silico</i> analysis tools to assess their functional effects. Ultimately, 5 more deleterious variants were found in the <i>ACE2</i> gene.</p><p><strong>Conclusions: </strong>Collecting more information about the variations in binding affinity between SARS-CoV-2 and host-cell receptors due to <i>ACE2</i> variants leads to progress in treatment strategies for COVID-19. The evidence accumulated in this study showed that <i>ACE2</i> variants in different populations may be associated with the genetic susceptibility, symptoms, and outcome of SARS-CoV-2 infection.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2023 ","pages":"2593199"},"PeriodicalIF":1.4,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10699955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138802803","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}
引用次数: 0
The Clinical and Cellular Impact of RBMS2 on the Progression and Prognosis of Kidney Renal Clear Cell Carcinoma. RBMS2对肾透明细胞癌进展和预后的临床和细胞影响。
IF 1.4 4区 生物学
Genetics research Pub Date : 2023-11-28 eCollection Date: 2023-01-01 DOI: 10.1155/2023/5512781
Zhixiang Gao, Shouren Fan
{"title":"The Clinical and Cellular Impact of RBMS2 on the Progression and Prognosis of Kidney Renal Clear Cell Carcinoma.","authors":"Zhixiang Gao, Shouren Fan","doi":"10.1155/2023/5512781","DOIUrl":"10.1155/2023/5512781","url":null,"abstract":"<p><p>This research delves into the implications of the RNA binding motif, single stranded interacting protein 2 (RBMS2)-a gene associated with tumor-suppressing functions-in the context of kidney renal clear cell carcinoma (ccRCC). Through meticulous exploration of online databases, we have identified a negative association between RBMS2 expression and adverse clinico-pathological features, such as advanced TNM stage. Furthermore, our findings indicate that RBMS2 acts as a prognostic predictor for clinical outcomes in ccRCC, evidenced by both univariate and multivariate analyses. Cellular assays have corroborated these findings, revealing that an overexpression of RBMS2 curtails ccRCC cell proliferation and migration. Additionally, our research has unearthed links between RBMS2 and immune infiltration within the ccRCC tumor microenvironment. Collectively, our results underscore the tumor-inhibiting role of RBMS2 in ccRCC and spotlight its potential as a prognostic marker and therapeutic intervention target.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2023 ","pages":"5512781"},"PeriodicalIF":1.4,"publicationDate":"2023-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10697775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138498215","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}
引用次数: 0
The Clinical Relevance and Functional Implications of Thymosin Beta-10 in Glioma 胸腺酶β -10在胶质瘤中的临床意义和功能意义
4区 生物学
Genetics research Pub Date : 2023-11-09 DOI: 10.1155/2023/5517445
Weimin Li, Jinliang Chen, Chengwei Xiang, Yong Long, Ke Wu, Juan Li
{"title":"The Clinical Relevance and Functional Implications of Thymosin Beta-10 in Glioma","authors":"Weimin Li, Jinliang Chen, Chengwei Xiang, Yong Long, Ke Wu, Juan Li","doi":"10.1155/2023/5517445","DOIUrl":"https://doi.org/10.1155/2023/5517445","url":null,"abstract":"Glioma is a highly aggressive form of brain cancer characterized by limited treatment options and poor patient prognosis. In this study, we aimed to elucidate the oncogenic role of thymosin beta-10 (TMSB10) in glioma through comprehensive analyses of patient data from the TCGA and GTEx databases. Our investigation encompassed several key aspects, including the analysis of patients’ clinical characteristics, survival analysis, in vitro and in vivo functional experiments, and the exploration of correlations between TMSB10 expression and immune cell infiltration. Our findings revealed a significant upregulation of TMSB10 expression in glioma tissues compared to normal brain tissues, with higher expression levels observed in tumors of advanced histological grades. Moreover, we observed positive correlations between TMSB10 expression and patient age, while no significant association with gender was detected. Additionally, TMSB10 exhibited marked elevation in gliomas with wild-type IDH and noncodeletion of 1p/19q. Survival analysis indicated that high TMSB10 expression was significantly associated with worse overall survival, disease-specific survival, and progression-free survival in glioma patients. Functionally, knockdown of TMSB10 in glioma cells resulted in reduced cellular growth rates and impaired tumor growth in xenograft models. Furthermore, our study revealed intriguing correlations between TMSB10 expression and immune cell infiltration within the tumor microenvironment. Specifically, TMSB10 showed negative associations with plasmacytoid dendritic cells (pDC) and γδ T cells (Tgd), while displaying positive correlations with neutrophils and macrophages. These findings collectively provide valuable insights into the oncogenic properties of TMSB10 in glioma, suggesting its potential as a therapeutic target and a biomarker for patient stratification.","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":" 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135290928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pharmacogenetic Approach for the Prevention of Rivaroxaban's ADRs: A Systematic Review and Meta-Analysis. 预防利伐沙班不良反应的药物遗传学方法:系统综述和荟萃分析。
IF 1.4 4区 生物学
Genetics research Pub Date : 2023-10-31 eCollection Date: 2023-01-01 DOI: 10.1155/2023/6105320
Parham Mardi, Bahareh Abbasi, Arman Shafiee, Tara Afsharmoghaddam
{"title":"Pharmacogenetic Approach for the Prevention of Rivaroxaban's ADRs: A Systematic Review and Meta-Analysis.","authors":"Parham Mardi, Bahareh Abbasi, Arman Shafiee, Tara Afsharmoghaddam","doi":"10.1155/2023/6105320","DOIUrl":"10.1155/2023/6105320","url":null,"abstract":"<p><strong>Introduction: </strong>Pharmacogenetics is a potential approach that can be applied to decline the burden of rivaroxaban's ADRs. The current systematic review and meta-analysis aim to identify genetic variants correlated with rivaroxaban exposure and evaluate their importance.</p><p><strong>Methods: </strong>We systematically searched PubMed, Web of Science, and Scopus databases for all observational and interventional studies. The fixed effect method was used to pool the data when the Q-test's <i>p</i> value was higher than 0.1. We used random models when the <i>p</i> value was less than 0.1.</p><p><strong>Results: </strong>Data from ten studies (4721 participants) were analyzed in the current review. Qualitative synthesis from included studies found that two variants of ABCB1 (rs1045642 and rs2032582) and one variant of APOB (rs13306198) are potential contributors to rivaroxaban concentrations. Both wild homozygotes (AA) and heterozygotes (AC) of rs1045642 have significantly lower rivaroxaban concentrations compared to mutated homozygotes (CC) (SMD = 0.516, 95% CI: 0.115 to 0.917; SMD = 0.772, 95% CI: 0.088 to 1.455, respectively). Nevertheless, pooling unadjusted odds ratios did not yield a statistically significant correlation between rivaroxaban ADRs and genetic mutations.</p><p><strong>Conclusion: </strong>This study revealed that being an AC or CC for rs1045642 is attributed to a considerably higher rivaroxaban level in participants using rivaroxaban. That is to say, rs1045642 is a remarkable predictor of rivaroxaban metabolism. We concluded that identifying rs1045642 before drug administration might decrease ADRs although further studies adjusted for potential confounders are strongly suggested.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2023 ","pages":"6105320"},"PeriodicalIF":1.4,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10630013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71521183","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}
引用次数: 0
XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population. XRCC1 R194W和R399Q多态性与墨西哥东北部人群结直肠癌癌症风险。
IF 1.4 4区 生物学
Genetics research Pub Date : 2023-10-04 eCollection Date: 2023-01-01 DOI: 10.1155/2023/5565646
Juan Pablo Meza-Espinoza, Valeria Peralta-Leal, Jorge Durán-González, Nelly Macías-Gómez, Anabel Bocanegra-Alonso, Evelia Leal-Ugarte
{"title":"<i>XRCC1</i> R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population.","authors":"Juan Pablo Meza-Espinoza, Valeria Peralta-Leal, Jorge Durán-González, Nelly Macías-Gómez, Anabel Bocanegra-Alonso, Evelia Leal-Ugarte","doi":"10.1155/2023/5565646","DOIUrl":"10.1155/2023/5565646","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is one of the most common cancers worldwide. Its etiopathogenesis is complex, mainly influenced by genetic instability caused by the accumulation of mutations. The <i>XRCC1</i> gene, which is involved in DNA repair, has been associated with CRC through the R194W (C194T) and R399Q (G399A) polymorphisms, but the results are inconsistent. Here, we analyzed the association of these polymorphisms with sporadic CRC in a northeastern Mexican population, including 155 male CRC patients and 155 male controls. Genotyping was performed using the RFLP method. An association with CRC was found for the 399A allele (G vs A; OR = 1.48 (1.03-2.13), <i>P</i>=0.034) and for the 399AA genotype in a codominant model (AA vs GG; OR = 3.11 (1.06-9.10), <i>P</i>=0.031). In contrast, there were no significant differences between CRC patients and controls for the C194T polymorphism (C vs T; OR = 0.82 (0.52-1.31), <i>P</i>=0.41). These results are consistent with many similar studies, but further research is needed to verify whether the <i>XRCC1</i> R194W and R399Q polymorphisms play a role in CRC etiology. The functional significance of these polymorphisms is unclear, but some studies suggest that they influence DNA repair capacity and, thus, cancer risk.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2023 ","pages":"5565646"},"PeriodicalIF":1.4,"publicationDate":"2023-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10567464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41199045","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}
引用次数: 0
A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family. 一个有血缘关系的克什米尔家庭中一个新表型的外胚层发育不良综合征相关NECTIN4的复发性无义突变。
IF 1.4 4区 生物学
Genetics research Pub Date : 2023-10-04 eCollection Date: 2023-01-01 DOI: 10.1155/2023/9999660
Ghazanfar Ali, Sadia Sadia, Syeda Ain-Ul-Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur-Rehman, Zeeshan Anjum, Fazal- Ur-Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan
{"title":"A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family.","authors":"Ghazanfar Ali, Sadia Sadia, Syeda Ain-Ul-Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur-Rehman, Zeeshan Anjum, Fazal- Ur-Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan","doi":"10.1155/2023/9999660","DOIUrl":"10.1155/2023/9999660","url":null,"abstract":"<p><p>EDSS1, a syndrome characterized by ectodermal dysplasia-syndactyly, is inherited in an autosomal recessive manner due to mutations in the NECTIN4/PVRL4 gene. Clinical manifestations of the syndrome include defective nail plate, sparse to absent scalp and body hair, spaced teeth with enamel hypoplasia, and bilateral cutaneous syndactyly in the fingers and toes. Here, we report a consanguineous family of Kashmiri origin presenting features of EDSS1. Using whole exome sequencing, we found a recurrent nonsense mutation (NM_030916: c.181C > T, p.(Gln61 <i>∗</i>)) in the NECTIN4 gene. The variant segregated perfectly with the disorder within the family. The candidate variant was absent in 50 in-house exomes pertaining to other disorders from the same population. In addition to the previously reported clinical phenotype, an upper lip cleft was found in one of the affected members as a novel phenotype that is not reported by previous studies in EDSS1 patients. Therefore, the study presented here, which was conducted on the Kashmiri population, is the first to document a NECTIN4 mutation associated with the upper lip cleft as a novel phenotype. This finding broadens the molecular and phenotypic spectrum of EDSS1.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2023 ","pages":"9999660"},"PeriodicalIF":1.4,"publicationDate":"2023-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10567209/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41199046","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}
引用次数: 0
Orthodenticle Homeobox OTX1 Promotes Papillary Thyroid Carcinoma Progression and Is a Potential Prognostic Biomarker. 口腔同源盒OTX1促进甲状腺乳头状癌的进展,是一种潜在的预后生物标志物。
IF 1.4 4区 生物学
Genetics research Pub Date : 2023-09-21 eCollection Date: 2023-01-01 DOI: 10.1155/2023/5513812
Jing Wei, Xin Wang, Kai Jiao
{"title":"Orthodenticle Homeobox OTX1 Promotes Papillary Thyroid Carcinoma Progression and Is a Potential Prognostic Biomarker.","authors":"Jing Wei, Xin Wang, Kai Jiao","doi":"10.1155/2023/5513812","DOIUrl":"10.1155/2023/5513812","url":null,"abstract":"<p><p>Papillary thyroid carcinoma (PTC) is the most common type of thyroid neoplasms, characterized by evidence of follicular cell differentiation. Orthodenticle homeobox 1 (OTX1) is a transcription factor which has been implicated in numerous diseases, including malignancies. The objective of this research was to explore the function of OTX1 in PTC. Immunohistochemistry (IHC) was employed to determine the protein level of OTX1 in PTC specimens. Cell viability was assessed by the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. Furthermore, a xenograft model on nude mice was established to investigate in vivo effects of OTX1. Our results revealed that OTX1 was significantly upregulated within specific PTC tissues and was remarkably correlated with unfavorable clinical outcomes in PTC. Silencing OTX1 resulted in a significant inhibition in cell viability and suppressed cell proliferation. In addition, in vivo experiments demonstrated that OTX1 silencing resulted in a significant suppression of tumor growth in nude mice. Collectively, these results suggest that OTX1 may play crucial roles in promoting PTC progression.</p>","PeriodicalId":12778,"journal":{"name":"Genetics research","volume":"2023 ","pages":"5513812"},"PeriodicalIF":1.4,"publicationDate":"2023-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10539079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41121808","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}
引用次数: 0
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