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AMME chromosomal region gene 1基因变异矮小相关综合征一例及文献复习
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作者 王小红 杨海花 +2 位作者 高静 陈永兴 卫海燕 《中国医学工程》 2024年第2期66-69,共4页
目的探讨1例身材矮小、面中部发育不全患儿的病因,以提高临床医师对特殊矮小综合征的认识。方法收集1例身材矮小、面中部发育不全患儿的临床资料,对患儿及父母行基因检测,并给予患儿常规治疗、随访。结果结合患儿特殊面容及基因检测,诊... 目的探讨1例身材矮小、面中部发育不全患儿的病因,以提高临床医师对特殊矮小综合征的认识。方法收集1例身材矮小、面中部发育不全患儿的临床资料,对患儿及父母行基因检测,并给予患儿常规治疗、随访。结果结合患儿特殊面容及基因检测,诊断为AMMECR1基因变异矮小相关综合征,结合文献复习总结AMMECR1基因变异矮小相关综合征特点。结论AMMECR1基因变异矮小相关综合征是一种罕见的X连锁遗传性疾病,临床主要表现为身材矮小、运动语言落后、肌张力减低、听力损失、面中部发育不全,部分存在心脏改变、腭裂、骨骼改变及椭圆形红细胞增多症、智力落后和肾钙质沉着症。该文报道1例AMMECR1基因新变异引起身材矮小、面中部发育不全患儿的病例资料,结合特殊面容及基因检测,诊断为AMMECR1基因变异矮小相关综合征。AMMECR1基因变异矮小相关综合征是一种罕见的X连锁遗传性疾病,本文初步概括其特点,并结合文献进行分析,以提高临床医师对AMMECR1基因变异矮小相关综合征的诊治。 展开更多
关键词 AMMECR1基因 身材矮小 面中部发育不全 发育迟缓 Xq22.3-q23微缺失
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应用Minigene剪接变异体分析技术诊断PMM2基因非经典剪接位点新变异的致病性
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作者 周琴 林伟霞 宋元宗 《暨南大学学报(自然科学与医学版)》 CAS 北大核心 2024年第2期124-131,共8页
目的:研究Minigene剪接变异体分析技术在诊断磷酸甘露糖变位酶2(PMM2)相关先天性糖基化障碍(PMM2-CDG)中的价值,探讨磷酸甘露糖变位酶2(PMM2)基因剪接位点新变异对其转录产物的影响。方法:通过对1例PMM2-CDG患儿进行高通量测序查找可能... 目的:研究Minigene剪接变异体分析技术在诊断磷酸甘露糖变位酶2(PMM2)相关先天性糖基化障碍(PMM2-CDG)中的价值,探讨磷酸甘露糖变位酶2(PMM2)基因剪接位点新变异对其转录产物的影响。方法:通过对1例PMM2-CDG患儿进行高通量测序查找可能的遗传学病因,利用Minigene剪接变异体分析技术,研究PMM2基因新剪接位点变异的致病性。根据美国医学遗传学与基因组学学会(ACMG)指南,判断新变异的致病性。结果:遗传学分析发现患儿系PMM2基因母源性c.691G>A(p.Val231Met)变异和父源性c.447+5G>A变异复合杂合子。Minigene剪接变异体分析发现:变异c.447+5G>A导致PMM2基因转录产物形成r.348_447del转录本,为致病性PMM2基因变异。患儿的临床特征为皮肤巩膜黄染,血清总胆红素、非结合胆红素和总胆汁酸明显升高,白蛋白明显降低,甲胎蛋白、铁蛋白和促甲状腺素等升高,对症支持治疗效果欠佳。结论:Minigene剪接变异体分析可为PMM2-CDG确诊和家系遗传咨询提供新的分子标记物,扩展了PMM2基因变异谱,为该病的临床诊治提供新的参考依据。 展开更多
关键词 磷酸甘露糖变位酶2(PMM2)基因 PMM2相关先天性糖基化障碍(PMM2-CDG) Minigene剪接变异体分析
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Decoding Retinoblastoma: Differential Gene Expression
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作者 Ahmed Jasim Mahmood Al-Mashhadani Franko Shehaj Lianhong Zhou 《International Journal of Clinical Medicine》 CAS 2024年第4期177-196,共20页
Background: Retinoblastoma, the most common intraocular pediatric cancer, presents complexities in its genetic landscape that necessitate a deeper understanding for improved therapeutic interventions. This study lever... Background: Retinoblastoma, the most common intraocular pediatric cancer, presents complexities in its genetic landscape that necessitate a deeper understanding for improved therapeutic interventions. This study leverages computational tools to dissect the differential gene expression profiles in retinoblastoma. Methods: Employing an in silico approach, we analyzed gene expression data from public repositories by applying rigorous statistical models, including limma and de seq 2, for identifying differentially expressed genes DEGs. Our findings were validated through cross-referencing with independent datasets and existing literature. We further employed functional annotation and pathway analysis to elucidate the biological significance of these DEGs. Results: Our computational analysis confirmed the dysregulation of key retinoblastoma-associated genes. In comparison to normal retinal tissue, RB1 exhibited a 2.5-fold increase in expression (adjusted p Conclusions: Our analysis reinforces the critical genetic alterations known in retinoblastoma and unveils new avenues for research into the disease’s molecular basis. The discovery of chemoresistance markers and immune-related genes opens potential pathways for personalized treatment strategies. The study’s outcomes emphasize the power of in silico analyses in unraveling complex cancer genomics. 展开更多
关键词 Retinoblastoma gene Expression In Silico Study Differentially Expressed genes CHEMORESISTANCE Immune Response Computational Biology
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Morgan’s Mistake Leads to a Revolution in Genetics
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作者 Muying Zhou 《Open Journal of Genetics》 CAS 2024年第2期27-36,共10页
This paper reviews the authors research since 2018 on Mendels gene assumption. The main conclusion is that Morgans misreading of Mendels gene assumption would lead to the inevitable Copernican-like revolution (geocent... This paper reviews the authors research since 2018 on Mendels gene assumption. The main conclusion is that Morgans misreading of Mendels gene assumption would lead to the inevitable Copernican-like revolution (geocentrism replaced by heliocentrism) in genetics. The evidence for this judgment comes from written records in Morgans The Theory of the Gene. The result of Mendels experiment proposed the second question of genetics (template question), aim at which he assumed the gene was the element controlling individual specification. This led to dualistic genetics (two elements forming the germplasm). However, the gene located by Morgan was germplasm able to give rise to the individualthe answer to the first question of genetics. It ushered in gene-monistic genetics. The confirmation of the gene as DNA has opened a new era of physical verification of gene intension. The inability of DNA to build 3,5-phosphodiester bonds revealed that the gene has neither the ability to produce individuals nor is it self-replicating;consequently, the basis of gene monistic genetics completely collapsed. Instead, the universal fact that the eggs transcriptase initiates DNA (genome) transcription giving rise to the individual (unless accidents occur) confirms that Mendelian dualistic genetics is scientific genetics. 展开更多
关键词 MENDEL MORGAN GERMPLASM genes Transcriptase
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Fate and Behavior of Tetracycline Resistance Genes in Activated Carbon Adsorption
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作者 Sri Anggreini Alma Rizky Aurellya +1 位作者 Wenqing Li Fusheng Li 《Journal of Water Resource and Protection》 CAS 2024年第1期1-16,共16页
The accessibility of tetracycline resistance gene (tetG) into the pores of activated carbon (AC), as well as the impact of the pore size distribution (PSD) of AC on the uptake capacity of tetG, were investigated using... The accessibility of tetracycline resistance gene (tetG) into the pores of activated carbon (AC), as well as the impact of the pore size distribution (PSD) of AC on the uptake capacity of tetG, were investigated using eight types of AC (four coal-based and four wood-based). AC showed the capability to admit tetG and the average reduction of tetG for coal-based and wood-based ACs at the AC dose of 1 g·L<sup>-1</sup> was 3.12 log and 3.65 log, respectively. The uptake kinetic analysis showed that the uptake of the gene followed the pseudo-second-order kinetics reaction, and the uptake rate constant for the coal-based and wood-based ACs was in the range of 5.97 × 10<sup>-12</sup> - 4.64 × 10<sup>-9</sup> and 7.02 × 10<sup>-11</sup> - 1.59 × 10<sup>-8</sup> copies·mg<sup>-1</sup>·min<sup>-1</sup>, respectively. The uptake capacity analysis by fitting the obtained experiment data with the Freundlich isotherm model indicated that the uptake constant (K<sub>F</sub>) values were 1.71 × 10<sup>3</sup> - 8.00 × 10<sup>9</sup> (copies·g<sup>-1</sup>)<sup>1-1/n</sup> for coal-based ACs and 7.00 × 10<sup>8</sup> - 3.00 × 10<sup>10</sup> (copies·g<sup>-1</sup>)<sup>1-1/n</sup> for wood-based ones. In addition, the correlation analysis between K<sub>F</sub> values and pore volume as well as pore surface at different pore size regions of ACs showed that relatively higher positive correlation was found for pores of 50 - 100 Å, suggesting ACs with more pores in this size region can uptake more tetG. The findings of this study are valuable as reference for optimizing the adsorption process regarding antibiotic resistance-related concerns in drinking water treatment. 展开更多
关键词 Antibiotic Resistance genes ADSORPTION Activated Carbon Drinking Water Treatment
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The Application of Nicotiana benthamiana as a Transient Expression Host to Clone the Coding Sequences of Plant Genes
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作者 Jianzhong Huang Peng Jia +3 位作者 Xiaoju Zhong Xiuying Guan Hongbin Zhang Honglei Ruan 《American Journal of Molecular Biology》 CAS 2024年第2期54-65,共12页
Coding sequences (CDS) are commonly used for transient gene expression, in yeast two-hybrid screening, to verify protein interactions and in prokaryotic gene expression studies. CDS are most commonly obtained using co... Coding sequences (CDS) are commonly used for transient gene expression, in yeast two-hybrid screening, to verify protein interactions and in prokaryotic gene expression studies. CDS are most commonly obtained using complementary DNA (cDNA) derived from messenger RNA (mRNA) extracted from plant tissues and generated by reverse transcription. However, some CDS are difficult to acquire through this process as they are expressed at extremely low levels or have specific spatial and/or temporal expression patterns in vivo. These challenges require the development of alternative CDS cloning technologies. In this study, we found that the genomic intron-containing gene coding sequences (gDNA) from Arabidopsis thaliana, Oryza sativa, Brassica napus, and Glycine max can be correctly transcribed and spliced into mRNA in Nicotiana benthamiana. In contrast, gDNAs from Triticum aestivum and Sorghum bicolor did not function correctly. In transient expression experiments, the target DNA sequence is driven by a constitutive promoter. Theoretically, a sufficient amount of mRNA can be extracted from the N. benthamiana leaves, making it conducive to the cloning of CDS target genes. Our data demonstrate that N. benthamiana can be used as an effective host for the cloning CDS of plant genes. 展开更多
关键词 Coding Sequence Genomic Sequence Nicotiana benthamiana Plant genes
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Dissemination of Resistance Integrons and Genes Coding for Blse and Cabapenemases in the Urban Drainage Network in Cote d’Ivoire
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作者 Coulibaly Kalpy Julien Diaby Aboubakar Sidik +8 位作者 Vakou N’dri Sabine M’bengue Gbonon Valérie Carole Claon Jean Stephane Yao Kouamé Eric Gnali Gbohounou Fabrice Yéo Yéfougnini Bagré Issa Djaman Allico Joseph Dosso Mireille 《Advances in Microbiology》 CAS 2024年第5期268-286,共19页
Antibiotic resistance has become a major threat to human health worldwide. Environment, particularly the water environment, has long been overlooked as a player in the antibiotic resistance cycle, although its role re... Antibiotic resistance has become a major threat to human health worldwide. Environment, particularly the water environment, has long been overlooked as a player in the antibiotic resistance cycle, although its role remains unclear. These can provide an ideal setting for the acquisition and dissemination of antibiotic resistance, as they are frequently affected by anthropogenic activities. The objective of this study was to establish a diffusion map of resistance integrons used as genetic markers of resistance associated with antibiotic resistance conferring genes (ARGs). Total DNA extracts from non-cultivable bacterial communities were used for the analyses. These communities were obtained from wastewater samples from 14 sites upstream and downstream of drainage channels or effluents in the cities of Abidjan, Bouaké, and Yamoussoukro. The results obtained correspond to the number of positives among the treated samples (n = 39). Among the genetic markers of dissemination, class 1 integrons were the most evident in 94.8% of samples in Abidjan (93.3%), Bouaké (100%) and Yamoussoukro (91.6%). Class 2 integrons and class 3 integrons were found respectively in 41% and 51% of all samples. Genes coding for β-lactamases and blaTEM was identified in almost all samples at a rate of 97.4%. A co-presence of the three genes blaTEM, blaSHV and blaCTX-M is also remarkable in the sites of the city of Yamoussoukro. Among the genes coding for carbapenemases, only blaKPC 17.94%, blaNDM 30.76% and blaOXA48 38.46% were detected in the samples. 展开更多
关键词 Antibiotic Resistance WASTEWATER Resistance Integrons (RIs) Resistance genes
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Identification and Validation of Vascular-Associated Biomarkers for the Prognosis and Potential Pathogenesis of Hypertension Using Comprehensive Bioinformatics Methods
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作者 Xiangguang Chang Lei Guo +2 位作者 Liying Zou Yazhao Ma Jilin Feng 《World Journal of Cardiovascular Diseases》 CAS 2024年第3期115-128,共14页
Background: Hypertension, also known as increased blood pressure, is a phenomenon in which blood flows in blood vessels and causes persistently higher-than-normal pressure on the vessel wall. The identification of nov... Background: Hypertension, also known as increased blood pressure, is a phenomenon in which blood flows in blood vessels and causes persistently higher-than-normal pressure on the vessel wall. The identification of novel prognostic and pathogenesis biomarkers plays a key role in the management of hypertension. Methods: The GSE7483 and GSE75815 datasets from the gene expression omnibus (GEO) database were used to identify the genes associated with hypertension that were differentially expressed genes (DEGs). The functional role of the DEGs was elucidated by gene body (GO) enrichment analysis. In addition, we performed an immune infiltration assay and GSEA on the DEGs of hypertensive patients and verified the expression of novel DEGs in the blood of hypertensive patients by RT-qPCR. Results: A total of 267 DEGs were identified from the GEO database. GO analysis revealed that these genes were associated mainly with biological processes such as fibroblast proliferation, cell structural organization, extracellular matrix organization, vasculature development regulation, and angiogenesis. We identified five possible biomarkers, Ecm1, Sparc, Sphk1, Thbsl, and Mecp2, which correlate with vascular development and angiogenesis characteristic of hypertension by bioinformatics, and explored the clinical expression levels of these genes by RT-qPCR, and found that Sparc, Sphk1, and Thbs1 showed significant up-regulation, in agreement with the results of the bioinformatics analysis. Conclusion: Our study suggested that Sparc, Sphk1 and Thbs1 may be potential novel biomarkers for the diagnosis, treatment and prognosis of hypertension and that they are involved in the regulation of vascular development and angiogenesis in hypertension. 展开更多
关键词 HYPERTENSION Biomarkers Differentially Expressed genes Vascular Development and Angiogenesis Bioinformatics Analysis
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A Theory of Bio-Quantum Genetics
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作者 Jianzhong Zhao 《Journal of Quantum Information Science》 CAS 2024年第1期15-27,共13页
The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics... The physical mechanism of heredity or inheritance of genes is a quantum mechanical and/or quantum computational process. A theory of bio-quantum genetics is established in this paper. Principle of Bio-quantum Genetics is suggested. I propose and define the soft-genes of genetics controlling the processes of heredity or inheritance of genes. This research deals with the quantum mechanisms of Mendel plant heredity and family inheritance as examples of bio-quantum genetics, deepening our understanding of heredity or inheritance. I believe that more contributions will be made to promote researches of bio-quantum genetics or quantum biology at large. 展开更多
关键词 Bio-Quantum genetics Quantum Mechanics geneS Soft genes Quantum Mechanism of Mendel Plant Heredity Quantum Mechanism of Family Inheritance
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Molecular Detection of Resistance and Virulence Genes in Coagulase Negative Staphylococci Isolated from Blood Cultures at the University Teaching Hospital of Bouake
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作者 Oby Zéphirin Wayoro Ahou Micheline N’Guessan +7 位作者 Adjaratou Traore Akissi Christine Houssou Etilé Augustin Anoh Abdoulaye Diarrassouba Safiatou Karidioula Juste Olivier Tadet Pacôme Monemo Chantal Akoua-Koffi 《Journal of Biosciences and Medicines》 2024年第6期52-63,共12页
Introduction: Coagulase-negative staphylococci (CoNS) are currently recognized as genuine pathogens. However, little is known about the resistance and virulence genes that explain their pathogenicity in hospitals in C... Introduction: Coagulase-negative staphylococci (CoNS) are currently recognized as genuine pathogens. However, little is known about the resistance and virulence genes that explain their pathogenicity in hospitals in Cte d'Ivoire. The aim of this study was to contribute to the genotypic identification of resistance and virulence genes in CoNS isolated from blood cultures at the University Teaching Hospital (CHU) of Bouak, in order to improve patient management. Material and Methods: This was a descriptive study conducted from September to December 2023. The CoNS isolates studied came from the collection of strains isolated from blood cultures of febrile patients hospitalized or attending consultations at the CHU of Bouak. The strains were analyzed using conventional simplex PCR. Results: Of the 45 isolates analyzed, 46.7% carried both the aacA-aphD and tetK genes and 40% carried the mecA gene. With regard to virulence genes, only the LukS-PV gene was observed in S. epidermidis and S. haemolyticus isolates. Conclusion: The high prevalence of CoNS isolates carrying the mecA gene and the presence of virulence genes observed in this study give cause for concern in hospitals. It is important to develop comprehensive surveillance strategies against nosocomial and multi-resistant infections at the CHU of Bouak. 展开更多
关键词 Coagulase-Negative Staphylococcus gene MULTIRESISTANCE VIRULENCE Bouaké
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Cellular Senescence and SENEX Gene on the Peripheral CD4+CD25+ Treg Cells Enhancement in Elderly
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作者 Mengxin Wen Jing Chai Beng Wen 《Journal of Biosciences and Medicines》 2024年第2期70-79,共10页
Cellular senescence is a signal transduction process which maintained genomic stability and stopped mammalian cell growth. Furthermore, cellular senescence induces a protective response to a variety of DNA damage. How... Cellular senescence is a signal transduction process which maintained genomic stability and stopped mammalian cell growth. Furthermore, cellular senescence induces a protective response to a variety of DNA damage. However, this process is also associated with apoptosis, upregulated secretion of inflammatory cytokine, and promoted surrounding tissue damage. When cellular senescence accumulates to a certain extent, it triggers geriatric diseases, such as chronic inflammation, immune senescence-associated tumors and incontrollable infections. Cellular senescence gene SENEX, which was cloned in 2004, has been demonstrated to play a unique gatekeeper function in human endothelial cells when stress-induced pre-mature senescence and apoptosis occurr. The phenomenon that CD4+CD25+ Treg cells accumulated in the aged population has been well studied in recent years. Now Treg accumulation related to immune-pathology has attracted more interest. CD4+CD25+ Treg did not decline and age, but accumulated and suppressed immunoreaction. The enhanced Treg number and function may be associated with stress-induced premature senescence-mediated unique cellular senescence protection mechanisms, and SENEX may play a critical role in this process. In this article, we summarize the cellular senescence and SENEX gene in the accumulation and functional activity of CD4+CD25+ Treg in the elderly. 展开更多
关键词 Cellular Senescence gene SENEX CD4 CD25 Treg ELDER
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Multi-Organ Pathogenesis and Therapeutic Strategies for Cystic Fibrosis
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作者 Oluwaseun Babatunde Ogonna William David +1 位作者 Richard Ifeanyichukwu Ikwugbado Oluwaseyi Oyewole 《Journal of Biosciences and Medicines》 2024年第5期312-329,共18页
Cystic Fibrosis (CF) is the most common lethal autosomal inherited disorder that affects all races and ethnicities in the United States. However, it is mostly predominant in the Caucasian populace accounting for about... Cystic Fibrosis (CF) is the most common lethal autosomal inherited disorder that affects all races and ethnicities in the United States. However, it is mostly predominant in the Caucasian populace accounting for about 80% of all CF cases. CF most severe complication can be referred to as pulmonary bronchiectasis and infections of the airways, nonetheless, the devastating effects of the disease have far-reaching consequences beyond lung damage. CF is a heterogeneous disease that is caused by mutations in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. The impairment or absence of this gene can affect multiple organs and systems and is characterized not only by chronic lung blockage, infections, and inflammation but also by exocrine gland dysfunction, intestinal obstruction, liver pathology, elevated sweat chloride concentration, and in males, infertility due to the congenital bilateral absence of the vas deferens. To this end, we briefly explore the pathological effects of CF and how CF mediates the destruction of several critical organs in the body and some of the gene therapeutical approaches such as gene editing and viral-based strategies available for the treatment of this multi-organ disease. 展开更多
关键词 Cystic Fibrosis gene Therapy Organ Damage
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To Analyze the Sensitivity of RT-PCR Assays Employing S Gene Target Failure with Whole Genome Sequencing Data during Third Wave by SARS-CoV-2 Omicron Variant
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作者 Pooja Patel Yogita Mistry +1 位作者 Monika Patel Summaiya Mullan 《Advances in Microbiology》 CAS 2024年第5期247-255,共9页
Introduction: Omicron is a highly divergent variant of concern (VOCs) of a severe acute respiratory syndrome SARS-CoV-2. It carries a high number of mutations in its spike protein hence;it is more transmissible in the... Introduction: Omicron is a highly divergent variant of concern (VOCs) of a severe acute respiratory syndrome SARS-CoV-2. It carries a high number of mutations in its spike protein hence;it is more transmissible in the community by immune evasion mechanisms. Due to mutation within S gene, most Omicron variants have reported S gene target failure (SGTF) with some commercially available PCR kits. Such diagnostic features can be used as markers to screen Omicron. However, Whole Genome Sequencing (WGS) is the only gold standard approach to confirm novel microorganisms at genetically level as similar mutations can also be found in other variants that are circulating at low frequencies worldwide. This Retrospective study is aimed to assess RT-PCR sensitivity in the detection of S gene target failure in comparison with whole genome sequencing to detect variants of Omicron. Methods: We have analysed retrospective data of SARS-CoV-2 positive RT-PCR samples for S gene target failure (SGTF) with TaqPath COVID-19 RT-PCR Combo Kit (ThermoFisher) and combined with sequencing technologies to study the emerged pattern of SARS-CoV-2 variants during third wave at the tertiary care centre, Surat. Results: From the first day of December 2021 till the end of February 2022, a total of 321,803 diagnostic RT-PCR tests for SARS-CoV-2 were performed, of which 20,566 positive cases were reported at our tertiary care centre with an average cumulative positivity of 6.39% over a period of three months. In the month of December 21 samples characterized by the SGTF (70/129) were suggestive of being infected by the Omicron variant and identified as Omicron (B.1.1.529 lineage) when sequence. In the month of January, we analysed a subset of samples (n = 618) with SGTF (24%) and without SGTF (76%) with Ct values Conclusions: During the COVID-19 pandemic, it took almost more than 15 days to diagnose infection and identify pathogen by sequencing technology. In contrast to that molecular assay provided quick identification with the help of SGTF phenomenon within 5 hours of duration. This strategy helps scientists and health policymakers for the quick isolation and identification of clusters. That ultimately results in a decreased transmission of pathogen among the community. 展开更多
关键词 SARS-CoV-2 S gene Target Failure Whole Genome Sequencing Omicron
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Identification of Prognosis-Related Genes and Key Target Genes for Pancreatic Cancer: A Bioinformatics Analysis
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作者 Zhonghua Shang Nicaise Patient Woulaidjei Ntomo +1 位作者 Achi Ntiak Ernestina Apeku 《Journal of Biosciences and Medicines》 2024年第6期159-177,共19页
Objective: The mortality and morbidity rates associated with pancreatic cancer (PaCa) are extremely high. Various studies have demonstrated that pancreatic cancer will be the fourth cancer-related death by 2030, raisi... Objective: The mortality and morbidity rates associated with pancreatic cancer (PaCa) are extremely high. Various studies have demonstrated that pancreatic cancer will be the fourth cancer-related death by 2030, raising more concern for scholars to find effective methods to prevent and treat in order to improve the pancreatic cancer outcome. Using bioinformatic analysis, this study aims to pinpoint key genes that could impact PaCa patients’ prognosis and could be used as therapeutic targets. Methods: The TCGA and GEO datasets were integratively analyzed to identify prognosis-related differentially expressed genes. Next, the STRING database was used to develop PPI networks, and the MCODE and CytoNCA Cytoscape in Cytoscape were used to screen for critical genes. Through CytoNCA, three kinds of topology analysis were considered (degree, betweenness, and eigenvector). Essential genes were confirmed as potential target treatment through Go function and pathways enrichment analysis, a developed predictive risk model based on multivariate analysis, and the establishment of nomograms using the clinical information. Results: Overall, the GSE183795 and TCGA datasets associated 1311 and 2244 genes with pancreatic cancer prognosis, respectively. We identified 132 genes that were present in both datasets. The PPI network analysis using, the centrality analysis approach with the CytoNCA plug-in, showed that CDK2, PLK1, CCNB1, and TOP2A ranked in the top 5% across all three metrics. The independent analysis of a risk model revealed that the four key genes had a Hazard Ratio (HR) > 1. The monogram showed the predictive risk model and individual patient survival predictions were accurate. The results indicate that the effect of the selected vital genes was significant and that they could be used as biomarkers to predict a patient’s outcome and as possible target therapy in patients with pancreatic cancer. GO function and pathway analysis demonstrated that crucial genes might affect the P53 signaling pathway and FoxO signaling pathway, through which Meiotic nuclear division and cell cycle may have a significant function in essential genes affecting the outcome of patients who have pancreatic cancer. Conclusions: This study suggests that CDK2, CCNB1, PLK1 and TOP2A are four key genes that have a significant influence on PaCa migration and proliferation. CDK2, CCNB1, PLK1, and TOP2A can be used as potential PaCa prognostic biomarkers and therapeutic targets. However, experimental validation is necessary to confirm these predictions. Our study comes into contributions to the development of personalized target therapy for pancreatic cancer patients. 展开更多
关键词 Pancreatic Cancer Target genes Protein-Protein Network BIOINFORMATICS
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The Pathogenesis and Treatment Progress of Androgenic Alopecia
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作者 Huijuan Fan Faqing Huang 《Journal of Biosciences and Medicines》 2024年第6期149-158,共10页
Androgenic alopecia, also known as seborrheic alopecia, is the most common hair loss disorder in dermatology clinics, mainly characterized by hair follicle miniaturization and progressive hair loss. The etiology and p... Androgenic alopecia, also known as seborrheic alopecia, is the most common hair loss disorder in dermatology clinics, mainly characterized by hair follicle miniaturization and progressive hair loss. The etiology and pathogenesis of androgenic alopecia are not clear, but may be related to heredity and androgen metabolism. Currently, minoxidil and finasteride are the only two drugs approved by the U.S. Food and Drug Administration (FDA) for AGA treatment, other treatments include oral minoxidil, hair transplantation, low energy laser therapy (LLLT), platelet-rich plasma (PRP), Chinese medicine microneedles, and combination therapy. With the development of medicine and science, we have ushered in the era of biologics and targeted therapy. In recent years, a variety of signaling pathways for androgenic alopecia have been found, which may provide a basis for targeted therapy for androgenic alopecia. 展开更多
关键词 Androgen Alopecia PATHOgeneSIS gene Expression Signal Transduction Treatment Progress Targeted Therapy
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The Influence of Aerial Exposure on Sea Anemones Aulactinia veratra Mucin Genes Expression Using the RNA Sequencing
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作者 Alaa Haridi 《Open Journal of Marine Science》 2024年第1期1-18,共18页
Mucin genes are the main component of mucus. The sea anemone species, Aulactinia veratra (Phylum Cnidaria) contains different types of mucin genes. In the intertidal zone, A. veratra is found to be exposed to air duri... Mucin genes are the main component of mucus. The sea anemone species, Aulactinia veratra (Phylum Cnidaria) contains different types of mucin genes. In the intertidal zone, A. veratra is found to be exposed to air during the low tide and produces large quantities of mucus as an external covering. The relation between low tide and mucus secretion is still unclear, and what is the role of mucin during arial exposure is not yet investigated. This study hypothesised that the mucin genes in A. veratra would have significantly high expression in response to aerial exposure. Therefore, the aim of current study was to examine and analyses the response of A. veratra mucins in response to an experiment involving three hours of aerial exposure. To achieve this, aim the RNA-sequencing and bioinformatics analyses were used to examine the expression profile of A. veratra mucin genes in response to aerial exposure. The generated results have shown that, Mucin4-like and mucin5B-like were up-regulated in response to the three hours of aerial exposure in A. veratra. This finding shows a significant role of mucin5B-like and mucin4-like genes in response to air stress at low tide. The data generated from this study could be used in conjunction with future mucin gene studies of sea anemones and other cnidarians to compare A. veratra mucin gene expression results across time, and to extend our understanding of mucin stress response in this phylum. 展开更多
关键词 Aulactinia veratra Mucin4-Like Mucin5B-Like CNIDARIA Mucin gene Expression RNA-Sequencing Sea Anemones MUCUS Aerial Exposure
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西安地区256例Gene Xpert MTB/RIF阳性肺结核患者rpoB基因突变特征分析
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作者 崔尖 贺志清 《国际医药卫生导报》 2024年第12期1988-1992,共5页
目的分析西安地区256例利福平耐药实时荧光定量核酸扩增检测技术(Gene Xpert MTB/RIF)阳性肺结核患者rpoB基因突变特征。方法本研究为回顾性分析。256株结核分枝杆菌(MTB)菌株分离自2020年6月至2022年6月于陕西省结核病防治院就诊的Gene... 目的分析西安地区256例利福平耐药实时荧光定量核酸扩增检测技术(Gene Xpert MTB/RIF)阳性肺结核患者rpoB基因突变特征。方法本研究为回顾性分析。256株结核分枝杆菌(MTB)菌株分离自2020年6月至2022年6月于陕西省结核病防治院就诊的Gene Xpert MTB/RIF阳性肺结核门诊及住院患者,菌株无重复收集,来自痰液标本174份、支气管肺泡灌洗液标本82份,患者年龄(45.67±8.36)岁。采用DNA直接测序法对256株利福平耐药MTB菌株rpoB基因的PCR产物进行分析。将256株利福平耐药MTB菌株根据利福平耐药程度分为低、中、高耐药MTB菌株,采用χ^(2)检验比较3种菌株突变位点。人工诱导3株利福平耐药MTB菌株,采用DNA直接测序法对其rpoB基因的PCR产物进行分析。结果测序报告显示,256株利福平耐药MTB菌株中有253株发生rpoB基因位点突变,突变率为98.83%(253/256)。突变类型包括C→T、T→G、C→G、A→T、C→A、A→G、G→A、G→T、T→C、A→C共计10种,涉及丝氨酸、亮氨酸、丙氨酸、组氨酸、酪氨酸、谷氨酸、赖氨酸、精氨酸、天冬氨酸、脯氨酸、蛋氨酸、缬氨酸、异亮氨酸、甘氨酸共14个氨基酸密码子,均为点突变。利福平耐药菌株突变主要集中在531位[53.75%(136/253)]、526位[23.32%(59/253)],其他位点包括513、516、533、515、513、532、522、511、519、518、533。高耐药MTB菌株531位氨基酸突变发生率与低、中耐药MTB菌株比较[66.91%(91/136)比37.88%(25/66)、37.04%(20/54)],差异有统计学意义(χ^(2)=22.154,P<0.001);低、中耐药MTB菌株531位氨基酸突变发生率比较,差异无统计学意义(P>0.05)。低、中、高耐药MTB菌株526位氨基酸突变发生率比较[22.73%(15/66)、25.93%(14/54)、22.06%(30/136)],差异无统计学意义(χ^(2)=0.331,P=0.847)。人工诱导的3株利福平耐药MTB菌株均发生rpoB基因位点突变,低、中耐药MTB菌株突变均位于526位点,高耐药MTB菌株突变位于531位点。结论西安地区Gene Xpert MTB/RIF阳性肺结核患者rpoB基因突变率较高,以点突变为主,主要集中在531位、526位,531位TCG→TTG突变在rpoB基因突变类型中突变频率最高,且与高耐药有关。 展开更多
关键词 肺结核 利福平耐药 实时荧光定量核酸扩增检测 RPOB基因 突变特征
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In Vivo Improvements in Facial Appearance and in Vitro Changes in Gene Expression Using a Topical Formulation Designed to Repair Environmentally Induced DNA Damage
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作者 Amaryllis Aganahi Richard Parker Yohei Tanaka 《Journal of Cosmetics, Dermatological Sciences and Applications》 2024年第2期141-173,共33页
Background: While sunscreen has been accepted as a mainline defence against photodamage from ultraviolet, visible light and near-infrared radiation, there appears to be a lack of research into photorepair. The concept... Background: While sunscreen has been accepted as a mainline defence against photodamage from ultraviolet, visible light and near-infrared radiation, there appears to be a lack of research into photorepair. The concept of protecting the skin during the day and repairing cellular damage at night is intuitive, yet specific strategies revolving around combinations of proven reparative active ingredients remain unelucidated. Purpose: To investigate the efficacy of a solar repair Formulation following ultraviolet and environmental exposure in order to improve overall skin health and appearance through three hypotheses: The Formulation increases expression of DNA repair mechanisms markers;The Formulation enhances overall skin appearance through reducing signs of inflammation, elevating hydration, reinforcing skin firmness and amplifying radiance;In-Vivo efficacy test results are aligned with measured gene expression changes. Methods: The Formulation (#6NIC1.V1.1-1) was tested for: In-vitro LDH cytotoxicity activity, In-vitro qPCR gene expression with and without ultraviolet exposure on a reconstructed 3-dimensional skin model, and In-Vivo efficacy study on a panel of 22 participants objectively and subjectively. Results: Skin radiance, firmness, hydration, redness, and inflammation are significantly improved after In-Vivo skin exposure to the Formulation and environmental challenges such as ultraviolet radiation. These outcomes were confirmed by in-vitro genetic testing on a reconstructed human skin model. Conclusion: The studies allowed us to identify and group results in four main skin functions that were significantly enhanced following the application of the Formulation: firmness, hydration, radiance and soothing. 展开更多
关键词 PHOTOPROTECTION Photorepair DNA Repair Anti-Photoaging gene Expression Antioxidant REJUVENATION
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Rapid Prototype Development Approach for Genetic Programming
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作者 Pei He Lei Zhang 《Journal of Computer and Communications》 2024年第2期67-79,共13页
Genetic Programming (GP) is an important approach to deal with complex problem analysis and modeling, and has been applied in a wide range of areas. The development of GP involves various aspects, including design of ... Genetic Programming (GP) is an important approach to deal with complex problem analysis and modeling, and has been applied in a wide range of areas. The development of GP involves various aspects, including design of genetic operators, evolutionary controls and implementations of heuristic strategy, evaluations and other mechanisms. When designing genetic operators, it is necessary to consider the possible limitations of encoding methods of individuals. And when selecting evolutionary control strategies, it is also necessary to balance search efficiency and diversity based on representation characteristics as well as the problem itself. More importantly, all of these matters, among others, have to be implemented through tedious coding work. Therefore, GP development is both complex and time-consuming. To overcome some of these difficulties that hinder the enhancement of GP development efficiency, we explore the feasibility of mutual assistance among GP variants, and then propose a rapid GP prototyping development method based on πGrammatical Evolution (πGE). It is demonstrated through regression analysis experiments that not only is this method beneficial for the GP developers to get rid of some tedious implementations, but also enables them to concentrate on the essence of the referred problem, such as individual representation, decoding means and evaluation. Additionally, it provides new insights into the roles of individual delineations in phenotypes and semantic research of individuals. 展开更多
关键词 genetic Programming Grammatical Evolution gene Expression Programming Regression Analysis Mathematical Modeling Rapid Prototype Development
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人类“绿色基因”假说(Human"Green-Gene"Hypothesis):核心内容、科学佐证与实践意义 被引量:3
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作者 李树华 康宁 +1 位作者 向鹏天 孟令爽 《中国园林》 CSCD 北大核心 2023年第2期6-12,共7页
首先,对人类“绿色基因”的形成进行探讨,包括人类(动物)与植物共同维持大气中碳氧平衡、人类(动物)与植物互为食物链关系、人体功能中存在植物性功能、绿色是人类眼睛最易看到的颜色、人类血红蛋白的结构相似于叶绿素结构、作为人体呼... 首先,对人类“绿色基因”的形成进行探讨,包括人类(动物)与植物共同维持大气中碳氧平衡、人类(动物)与植物互为食物链关系、人体功能中存在植物性功能、绿色是人类眼睛最易看到的颜色、人类血红蛋白的结构相似于叶绿素结构、作为人体呼吸器官的肺部相似于树木地上部形状(树形)、人类肠道绒毛相似于植物根系毛细根等方面。进而对支持早期人类生活的植物类型与栽培植物诞生进行研究。在此基础上,提出人类“绿色基因”假说及其核心内容,归纳该假说的科学佐证。人类“绿色基因”假说从整体的、发展的思维解释人类与植物关系,奠定了园艺疗法、园林康养、森林康养的坚实基础,并指出接触植物、进行园艺操作与田园劳作是人们实现接地、激发触觉潜在功能的途径。 展开更多
关键词 风景园林 人类与植物关系 人类“绿色基因”假说 绿色脉络 园林康养 园艺疗法
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