Approximately 1 in 8 women will develop breast cancer during their lifetime and the risk factors include age, family history, and reproductive factors. In women with a family history of breast cancer, there is a propo...Approximately 1 in 8 women will develop breast cancer during their lifetime and the risk factors include age, family history, and reproductive factors. In women with a family history of breast cancer, there is a proportion in which a gene mutation can be the cause of the predisposition for breast cancer. A careful assessment of family and clinical history should be performed in these women in order to determine if a genetic counseling referral is indicated. In cases of hereditary breast cancer, genetic testing with a multigene panel can identify specific genetic mutations in over 100 genes. The most common genes mutated in hereditary breast cancer are the high-penetrance BRCA1 and BRCA2 genes. In addition, other mutations in high-penetrance genes in familial cancer syndromes and mutations in DNA repair genes can cause hereditary breast cancer. Mutations in low-penetrance genes and variants of uncertain significance may play a role in breast cancer development, but the magnitude and scope of risk in these cases remain unclear, thus the clinical utility of testing for these mutations is uncertain. In women with high-penetrance genetic mutations or lifetime risk of breast cancer > 20%, risk-reducing interventions, such as intensive screening, surgery, and chemoprevention, can decrease the incidence and mortality of breast cancer.展开更多
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,s...Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,short stature,scalp defects,dental abnormalities and abnormal hair patterns. Growth hormone deficiency,hypopituitarism,and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however,normal intelligence can occur. In the pancreas,there is a selective defect of acinar tissue,whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children,suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features,in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.展开更多
Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of...Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations.Methods:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this study.The NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and 21.Pregnant women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound examination.Interventional prenatal diagnosis and chromosome microarray analysis(CMA)were performed.The clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were analyzed.Additionally,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year post-birth.Results:A total of 53 cases among 3551 cases showed chromosomal copy number variation.Interventional prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test results.This indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and microduplications.However,further interventional prenatal diagnosis is still needed to identify fetal CNVs.展开更多
Test Case Prioritization(TCP)techniques perform better than other regression test optimization techniques including Test Suite Reduction(TSR)and Test Case Selection(TCS).Many TCP techniques are available,and their per...Test Case Prioritization(TCP)techniques perform better than other regression test optimization techniques including Test Suite Reduction(TSR)and Test Case Selection(TCS).Many TCP techniques are available,and their performance is usually measured through a metric Average Percentage of Fault Detection(APFD).This metric is value-neutral because it only works well when all test cases have the same cost,and all faults have the same severity.Using APFD for performance evaluation of test case orders where test cases cost or faults severity varies is prone to produce false results.Therefore,using the right metric for performance evaluation of TCP techniques is very important to get reliable and correct results.In this paper,two value-based TCP techniques have been introduced using Genetic Algorithm(GA)including Value-Cognizant Fault Detection-Based TCP(VCFDB-TCP)and Value-Cognizant Requirements Coverage-Based TCP(VCRCB-TCP).Two novel value-based performance evaluation metrics are also introduced for value-based TCP including Average Percentage of Fault Detection per value(APFDv)and Average Percentage of Requirements Coverage per value(APRCv).Two case studies are performed to validate proposed techniques and performance evaluation metrics.The proposed GA-based techniques outperformed the existing state-of-the-art TCP techniques including Original Order(OO),Reverse Order(REV-O),Random Order(RO),and Greedy algorithm.展开更多
Regression testing is a widely used approach to confirm the correct functionality of the software in incremental development.The use of test cases makes it easier to test the ripple effect of changed requirements.Rigo...Regression testing is a widely used approach to confirm the correct functionality of the software in incremental development.The use of test cases makes it easier to test the ripple effect of changed requirements.Rigorous testingmay help in meeting the quality criteria that is based on the conformance to the requirements as given by the intended stakeholders.However,a minimized and prioritized set of test cases may reduce the efforts and time required for testingwhile focusing on the timely delivery of the software application.In this research,a technique named Test Reduce has been presented to get a minimal set of test cases based on high priority to ensure that the web applicationmeets the required quality criteria.A new technique TestReduce is proposed with a blend of genetic algorithm to find an optimized and minimal set of test cases.The ultimate objective associated with this study is to provide a technique that may solve the minimization problem of regression test cases in the case of linked requirements.In this research,the 100-Dollar prioritization approach is used to define the priority of the new requirements.展开更多
BACKGROUND Several genetic testing techniques have been recommended as a first-tier diagnostic tool in clinical practice for diagnosing autism spectrum disorder(ASD).However,the actual usage rate varies dramatically.T...BACKGROUND Several genetic testing techniques have been recommended as a first-tier diagnostic tool in clinical practice for diagnosing autism spectrum disorder(ASD).However,the actual usage rate varies dramatically.This is due to various reasons,including knowledge and attitudes of caregivers,patients,and health providers toward genetic testing.Several studies have therefore been conducted worldwide to investigate the knowledge,experiences,and attitudes toward genetic testing among caregivers of children with ASD,adolescent and adult ASD patients,and health providers who provide medical services for them.However,no systematic review has been done.AIM To systematically review research on knowledge,experiences,and attitudes towards genetic testing among caregivers of children with ASD,adolescent and adult ASD patients,and health providers.METHODS We followed the Preferred Reporting Items for Systematic Reviews and Metaanalyses guidelines and searched the literature in three English language databases(PubMed,Web of Science,and PsychInfo)and two Chinese databases(CNKI and Wanfang).Searched literature was screened independently by two reviewers and discussed when inconsistency existed.Information on characteristics of the study,characteristics of participants,and main findings regarding knowledge,experience,and attitudes of caregivers of children with ASD,adolescent and adult ASD patients,and health providers concerning ASD genetic testing were extracted from included papers into a charting form for analysis.RESULTS We included 30 studies published between 2012 and 2022 and conducted in 9 countries.Most of the studies(n=29)investigated caregivers of children with ASD,one study also included adolescent and adult patients,and two covered health providers.Most(51.0%-100%)of the caregivers/patients knew there was a genetic cause for ASD and 17.0%to 78.1%were aware of ASD genetic testing.However,they lacked full understanding of genetic testing.They acquired relevant and necessary information from physicians,the internet,ASD organizations,and other caregivers.Between 9.1%to 72.7%of caregivers in different studies were referred for genetic testing,and between 17.4%to 61.7%actually obtained genetic testing.Most caregivers agreed there are potential benefits following genetic testing,including benefits for children,families,and others.However,two studies compared perceived pre-test and post-test benefits with conflicting findings.Caregivers concerns included high costs,unhelpful results,negative influences(e.g.,causing family conflicts,causing stress/risk/pain to children etc.)prevented some caregivers from using genetic testing.Nevertheless,46.7%to 95.0%caregivers without previous genetic testing experience intended to obtain it in the future,and 50.5%to 59.6%of parents previously obtaining genetic testing would recommend it to other parents.In a single study of child and adolescent psychiatrists,54.9%of respondents had ordered ASD genetic testing for their patients in the prior 12 mo,which was associated with greater knowledge of genetic testing.CONCLUSION Most caregivers are willing to learn about and use genetic testing.However,the review showed their current knowledge is limited and usage rates varied widely in different studies.展开更多
To identify the cause of mass mortality of adult Macrobrachium rosenbergii in a farm in Gaoyou City,Jiangsu Province,China,a dominant strain named DKQ-1 was isolated from the hepatopancreas of dying M.rosenbergii and ...To identify the cause of mass mortality of adult Macrobrachium rosenbergii in a farm in Gaoyou City,Jiangsu Province,China,a dominant strain named DKQ-1 was isolated from the hepatopancreas of dying M.rosenbergii and identified as Aeromonas dhakensis by purification culture,biochemical characterization,and 16S rRNA and gyrB gene sequence analysis.The results of the challenge test revealed that the strain was highly pathogenic and the 50%lethal dose(LD_(50))in 72 h to M.rosenbergii was 1.54×10^(5)CFU/mL.The amplification results of virulence genes show that strain DKQ-1 carried 9 virulence genes,including ascV,aexT,aer,act,lip,ompAI,gcaT,acg,and exu,supporting the strong virulence of strain DKQ-1 to M.rosenbergii.Histopathological observation of the hepatopancreas,gills,and intestines indicated that DKQ-1 injection into M.rosenbergii could cause serious tissue damage,which further supported the strong virulence of this strain.In addition,a drug susceptibility test revealed that strain DKQ-1 was sensitive to 16 kinds of antibiotics,resistant to 9 kinds of antibiotics,and had intermediate resistance to spectinomycin and kanamycin.This study is the first report of A.dhakensis isolated from M.rosenbergii and provided a reference for the pathogen identification of bacterial diseases in M.rosenbergii,and for the prevention and treatment caused by A.dhakensis.展开更多
Traditional transgenic detection methods require high test conditions and struggle to be both sensitive and efficient.In this study,a one-tube dual recombinase polymerase amplification(RPA)reaction system for CP4-EPSP...Traditional transgenic detection methods require high test conditions and struggle to be both sensitive and efficient.In this study,a one-tube dual recombinase polymerase amplification(RPA)reaction system for CP4-EPSPS and Cry1Ab/Ac was proposed and combined with a lateral flow immunochromatographic assay,named“Dual-RPA-LFD”,to visualize the dual detection of genetically modified(GM)crops.In which,the herbicide tolerance gene CP4-EPSPS and the insect resistance gene Cry1Ab/Ac were selected as targets taking into account the current status of the most widespread application of insect resistance and herbicide tolerance traits and their stacked traits.Gradient diluted plasmids,transgenic standards,and actual samples were used as templates to conduct sensitivity,specificity,and practicality assays,respectively.The constructed method achieved the visual detection of plasmid at levels as low as 100 copies,demonstrating its high sensitivity.In addition,good applicability to transgenic samples was observed,with no cross-interference between two test lines and no influence from other genes.In conclusion,this strategy achieved the expected purpose of simultaneous detection of the two popular targets in GM crops within 20 min at 37°C in a rapid,equipmentfree field manner,providing a new alternative for rapid screening for transgenic assays in the field.展开更多
Our previous studies have successfully grafted biotin and galactose onto chitosan(CS)and synthesized biotin modified galactosylated chitosan(Bio-GC).The optimum N/P ratio of Bio-GC and plasmid DNA was 3:1.At this N/P ...Our previous studies have successfully grafted biotin and galactose onto chitosan(CS)and synthesized biotin modified galactosylated chitosan(Bio-GC).The optimum N/P ratio of Bio-GC and plasmid DNA was 3:1.At this N/P ratio,the transfection efficiency in the hepatoma cells was the highest with a slow release effect.Bio-GC nanomaterials exhibit the protective effect of preventing the gene from nuclease degradation,and can target the transfection into hepatoma cells by combination with galactose and biotin receptors.The transfection rate was inhibited by the competition of galactose and biotin.Bio-GC nanomaterials were imported into cells’cytoplasm by their receptors,followed by the imported exogenous gene transfected into the cells.Bio-GC nanomaterials can also cause inhibitory activity in the hepatoma cells in the model of orthotopic liver transplantation in mice,by carrying the gene through the blood to the hepatoma tissue.Taken together,bio-GC nanomaterials act as gene vectors with the activity of protecting the gene from DNase degradation,improving the rate of transfection in hepatoma cells,and transporting the gene into the cytoplasm in vitro and in vivo.Therefore,they are efficient hepatoma-targeting gene carriers.展开更多
Confining stresses serve as a pivotal determinant in shaping the behavior of grouted rock bolts.Nonetheless,prior investigations have oversimplified the three-dimensional stress state,primarily assuming hydrostatic st...Confining stresses serve as a pivotal determinant in shaping the behavior of grouted rock bolts.Nonetheless,prior investigations have oversimplified the three-dimensional stress state,primarily assuming hydrostatic stress conditions.Under these conditions,it is assumed that the intermediate principal stress(σ_(2))equals the minimum principal stress(σ_(3)).This assumption overlooks the potential variations in magnitudes of in situ stress conditions along all three directions near an underground opening where a rock bolt is installed.In this study,a series of push tests was meticulously conducted under triaxial conditions.These tests involved applying non-uniform confining stresses(σ_(2)≠σ_(3))to cubic specimens,aiming to unveil the previously overlooked influence of intermediate principal stresses on the strength properties of rock bolts.The results show that as the confining stresses increase from zero to higher levels,the pre-failure behavior changes from linear to nonlinear forms,resulting in an increase in initial stiffness from 2.08 kN/mm to 32.51 kN/mm.The load-displacement curves further illuminate distinct post-failure behavior at elevated levels of confining stresses,characterized by enhanced stiffness.Notably,the peak load capacity ranged from 27.9 kN to 46.5 kN as confining stresses advanced from σ_(2)=σ_(3)=0 to σ_(2)=20 MPa and σ_(3)=10 MPa.Additionally,the outcomes highlight an influence of confining stress on the lateral deformation of samples.Lower levels of confinement prompt overall dilation in lateral deformation,while higher confinements maintain a state of shrinkage.Furthermore,diverse failure modes have been identified,intricately tied to the arrangement of confining stresses.Lower confinements tend to induce a splitting mode of failure,whereas higher loads bring about a shift towards a pure interfacial shear-off and shear-crushed failure mechanism.展开更多
Recurrent spontaneous abortion (RSA) is a complex and heterogeneous disorder with multiple etiologies. Genetic factors are thought to play an important role in the etiology of RSA. With recent advances in genetic test...Recurrent spontaneous abortion (RSA) is a complex and heterogeneous disorder with multiple etiologies. Genetic factors are thought to play an important role in the etiology of RSA. With recent advances in genetic testing technologies, there has been an increasing interest in using these tools to diagnose the etiology of RSA. This review discusses the different types of genetic testing methods, such as karyotyping, chromosomal microarray analysis, next-generation sequencing, and their applications in the diagnosis of the etiology RSA. The use of genetic testing in the diagnosis of RSA has the potential to improve the accuracy of diagnosis and the understanding of the underlying mechanisms of the disorder, which could lead to better management and treatment of affected individuals.展开更多
Jujube witches’broom(JWB)caused by phytoplasma has a severely negative effect on multiple metabolisms in jujube.The GST gene family in plants participates in the regulation of a variety of biotic and abiotic stresses...Jujube witches’broom(JWB)caused by phytoplasma has a severely negative effect on multiple metabolisms in jujube.The GST gene family in plants participates in the regulation of a variety of biotic and abiotic stresses.This study aims to identify and reveal the changes in the jujube GST gene family in response to phytoplasma infection.Here,70 ZjGSTs were identified in the jujube genome and divided into 8 classes.Among them,the Tau-class,including 44 genes,was the largest.Phylogenetic analysis indicated that Tau-class genes were highly conserved among species,such as Arabidopsis,cotton,chickpea,and rice.Through chromosome location analysis,37.1%of genes were clustered,and 8 of 9 gene clusters were composed of Tau class members.Through RT-PCR,qRT-PCR and enzyme activity detection,the results showed that the expression of half(20/40)of the tested ZjGSTs was inhibited by phytoplasma infection in field and tissue culture conditions,and GST activity was also significantly reduced.In the resistant and susceptible varieties under phytoplasma infection,ZjGSTU49-ZjGSTU54 in the cluster IV showed opposite expression patterns,which may be due to functional divergence during evolution.Some upregulated genes(ZjGSTU45,ZjGSTU49,ZjGSTU59,and ZjGSTU70)might be involved in the process of jujube against JWB.The yeast two-hybrid results showed that all 6 Tauclass proteins tested could form homodimers or heterodimers.Overall,the comprehensive analysis of the jujube GST gene family revealed that ZjGSTs responded actively to phytoplasma infection.Furthermore,some screened genes(ZjGSTU24,ZjGSTU49-52,ZjGSTU70,and ZjDHAR10)will contribute to further functional studies of jujube-phytoplasma interactions.展开更多
Edge devices,due to their limited computational and storage resources,often require the use of compilers for program optimization.Therefore,ensuring the security and reliability of these compilers is of paramount impo...Edge devices,due to their limited computational and storage resources,often require the use of compilers for program optimization.Therefore,ensuring the security and reliability of these compilers is of paramount importance in the emerging field of edge AI.One widely used testing method for this purpose is fuzz testing,which detects bugs by inputting random test cases into the target program.However,this process consumes significant time and resources.To improve the efficiency of compiler fuzz testing,it is common practice to utilize test case prioritization techniques.Some researchers use machine learning to predict the code coverage of test cases,aiming to maximize the test capability for the target compiler by increasing the overall predicted coverage of the test cases.Nevertheless,these methods can only forecast the code coverage of the compiler at a specific optimization level,potentially missing many optimization-related bugs.In this paper,we introduce C-CORE(short for Clustering by Code Representation),the first framework to prioritize test cases according to their code representations,which are derived directly from the source codes.This approach avoids being limited to specific compiler states and extends to a broader range of compiler bugs.Specifically,we first train a scaled pre-trained programming language model to capture as many common features as possible from the test cases generated by a fuzzer.Using this pre-trained model,we then train two downstream models:one for predicting the likelihood of triggering a bug and another for identifying code representations associated with bugs.Subsequently,we cluster the test cases according to their code representations and select the highest-scoring test case from each cluster as the high-quality test case.This reduction in redundant testing cases leads to time savings.Comprehensive evaluation results reveal that code representations are better at distinguishing test capabilities,and C-CORE significantly enhances testing efficiency.Across four datasets,C-CORE increases the average of the percentage of faults detected(APFD)value by 0.16 to 0.31 and reduces test time by over 50% in 46% of cases.When compared to the best results from approaches using predicted code coverage,C-CORE improves the APFD value by 1.1% to 12.3% and achieves an overall time-saving of 159.1%.展开更多
Noncoding RNAs instruct the Cas9 nuclease to site speifillyl cleave DNA in the CRISPR/Cas9 system.Despite the high incidence of hepatocellular carcinoma(HCC),the patient's outcome is poor.As a result of the emerge...Noncoding RNAs instruct the Cas9 nuclease to site speifillyl cleave DNA in the CRISPR/Cas9 system.Despite the high incidence of hepatocellular carcinoma(HCC),the patient's outcome is poor.As a result of the emergence of therapeutic resistance in HCC patients,dlinicians have faced difficulties in treating such tumor.In addition,CRISPR/Cas9 screens were used to identify genes that improve the dlinical response of HCC patients.It is the objective of this article to summarize the current understanding of the use of the CRISPR/Cas9 system for the treatment of cancer,with a particular emphasis on HCC as part of the current state of knowledge.Thus,in order to locate recent developments in oncology research,we examined both the Scopus database and the PubMed database.The ability to selectively interfere with gene expression in combinatorial CRISPR/Cas9 screening can lead to the discovery of new effective HCC treatment regimens by combining clinically approved drugs.Drug resistance can be overcome with the help of the CRISPR/Cas9 system.HCC signature genes and resistance to treatment have been uncovered by genome-scale CRISPR activation screening although this method is not without limitations.It has been extensively examined whether CRISPR can be used as a tool for disease research and gene therapy.CRISPR and its applications to tumor research,particularly in HCC,are examined in this study through a review of the literature.展开更多
Animal body size variation is of particular interest in evolutionary biology,but the genetic basis remains largely unknown.Previous studies have shown the presence of two parallel evolutionary genetic clusters within ...Animal body size variation is of particular interest in evolutionary biology,but the genetic basis remains largely unknown.Previous studies have shown the presence of two parallel evolutionary genetic clusters within the fish genus Epinephelus with evident divergence in body size,providing an excellent opportunity to investigate the genetic basis of body size variation in vertebrates.Herein,we performed phylotranscriptomic analysis and reconstructed the phylogeny of 13 epinephelids originating from the South China Sea.Two genetic clades with an estimated divergence time of approximately 15.4 million years ago were correlated with large and small body size,respectively.A total of 180 rapidly evolving genes and two positively selected genes were identified between the two groups.Functional enrichment analyses of these candidate genes revealed distinct enrichment categories between the two groups.These pathways and genes may play important roles in body size variation in groupers through complex regulatory networks.Based on our results,we speculate that the ancestors of the two divergent groups of groupers may have adapted to different environments through habitat selection,leading to genetic variations in metabolic patterns,organ development,and lifespan,resulting in body size divergence between the two locally adapted populations.These findings provide important insights into the genetic mechanisms underlying body size variation in groupers and species differentiation.展开更多
BACKGROUND A growing number of clinical examples suggest that coronavirus disease 2019(COVID-19)appears to have an impact on the treatment of patients with liver cancer compared to the normal population,and the preval...BACKGROUND A growing number of clinical examples suggest that coronavirus disease 2019(COVID-19)appears to have an impact on the treatment of patients with liver cancer compared to the normal population,and the prevalence of COVID-19 is significantly higher in patients with liver cancer.However,this mechanism of action has not been clarified.Gene sets for COVID-19(GSE180226)and liver cancer(GSE87630)were obtained from the Gene Expression Omnibus database.After identifying the common differentially expressed genes(DEGs)of COVID-19 and liver cancer,functional enrichment analysis,protein-protein interaction network construction and scree-ning and analysis of hub genes were performed.Subsequently,the validation of the differential expression of hub genes in the disease was performed and the regulatory network of transcription factors and hub genes was constructed.RESULTS Of 518 common DEGs were obtained by screening for functional analysis.Fifteen hub genes including aurora kinase B,cyclin B2,cell division cycle 20,cell division cycle associated 8,nucleolar and spindle associated protein 1,etc.,were further identified from DEGs using the“cytoHubba”plugin.Functional enrichment analysis of hub genes showed that these hub genes are associated with P53 signalling pathway regulation,cell cycle and other functions,and they may serve as potential molecular markers for COVID-19 and liver cancer.Finally,we selected 10 of the hub genes for in vitro expression validation in liver cancer cells.CONCLUSION Our study reveals a common pathogenesis of liver cancer and COVID-19.These common pathways and key genes may provide new ideas for further mechanistic studies.展开更多
Gene therapies,despite of being a relatively new therapeutic approach,have a potential to become an important alternative to current treatment strategies in glaucoma.Since glaucoma is not considered a single gene dise...Gene therapies,despite of being a relatively new therapeutic approach,have a potential to become an important alternative to current treatment strategies in glaucoma.Since glaucoma is not considered a single gene disease,the identified goals of gene therapy would be rather to provide neuroprotection of retinal ganglion cells,especially,in intraocular-pressure-independent manner.The most commonly reported type of vector for gene delivery in glaucoma studies is adeno-associated virus serotype 2 that has a high tro pism to retinal ganglion cells,res ulting in long-term expression and low immunogenic profile.The gene thera py studies recruit inducible and genetic animal models of optic neuropathy,like DBA/2J mice model of high-tension glaucoma and the optic nerve crush-model.Reported gene therapy-based neuroprotection of retinal ganglion cells is targeting specific genes translating to growth factors(i.e.,brain derived neurotrophic factor,and its receptor TrkB),regulation of apoptosis and neurodegeneration(i.e.,Bcl-xl,Xiap,FAS system,nicotinamide mononucleotide adenylyl transferase 2,Digit3 and Sarm1),immunomodulation(i.e.,Crry,C3 complement),modulation of neuroinflammation(i.e.,e rythropoietin),reduction of excitotoxicity(i.e.,Com KIlα)and transcription regulation(i.e.,Max,Nrf2).On the other hand,some of gene therapy studies focus on lowering intra ocular pressure,by impacting genes involved in both,decreasing aqueous humor production(i.e.,aquaporin 1),and increasing outflow facility(i.e.,COX2,prostaglandin F2a receptor,RhoA/RhoA kinase signaling pathway,MMP1,Myocilin).The goal of this review is to summarize the current stateof-art and the direction of development of gene therapy strategies for glaucomatous neuropathy.展开更多
文摘Approximately 1 in 8 women will develop breast cancer during their lifetime and the risk factors include age, family history, and reproductive factors. In women with a family history of breast cancer, there is a proportion in which a gene mutation can be the cause of the predisposition for breast cancer. A careful assessment of family and clinical history should be performed in these women in order to determine if a genetic counseling referral is indicated. In cases of hereditary breast cancer, genetic testing with a multigene panel can identify specific genetic mutations in over 100 genes. The most common genes mutated in hereditary breast cancer are the high-penetrance BRCA1 and BRCA2 genes. In addition, other mutations in high-penetrance genes in familial cancer syndromes and mutations in DNA repair genes can cause hereditary breast cancer. Mutations in low-penetrance genes and variants of uncertain significance may play a role in breast cancer development, but the magnitude and scope of risk in these cases remain unclear, thus the clinical utility of testing for these mutations is uncertain. In women with high-penetrance genetic mutations or lifetime risk of breast cancer > 20%, risk-reducing interventions, such as intensive screening, surgery, and chemoprevention, can decrease the incidence and mortality of breast cancer.
基金Supported by Grant from the German Research Foundation (DFG) to MZ
文摘Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,short stature,scalp defects,dental abnormalities and abnormal hair patterns. Growth hormone deficiency,hypopituitarism,and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however,normal intelligence can occur. In the pancreas,there is a selective defect of acinar tissue,whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children,suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features,in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.
基金Dongguan City Social Development Project(Project number:20161081101023)。
文摘Objective:To analyze the clinical value of non-invasive prenatal testing(NIPT)in detecting chromosomal copy number variations(CNVs)and to explore the relationship between gene expression and clinical manifestations of chromosomal copy number variations.Methods:3551 naturally conceived singleton pregnant women who underwent NIPT were included in this study.The NIPT revealed abnormalities other than sex chromosome abnormalities and trisomy 13,18,and 21.Pregnant women with chromosome copy number variations underwent genetic counseling and prenatal ultrasound examination.Interventional prenatal diagnosis and chromosome microarray analysis(CMA)were performed.The clinical phenotypes and pregnancy outcomes of different prenatal diagnoses were analyzed.Additionally,a follow-up was conducted by telephone to track fetal development after birth,at six months,and one year post-birth.Results:A total of 53 cases among 3551 cases showed chromosomal copy number variation.Interventional prenatal diagnosis was performed in 36 cases:27 cases were negative and 8 were consistent with the NIPT test results.This indicates that NIPT’s positive predictive value(PPV)in CNVs is 22.22%.Conclusion:NIPT has certain clinical significance in screening chromosome copy number variations and is expected to become a routine screening for chromosomal microdeletions and microduplications.However,further interventional prenatal diagnosis is still needed to identify fetal CNVs.
文摘Test Case Prioritization(TCP)techniques perform better than other regression test optimization techniques including Test Suite Reduction(TSR)and Test Case Selection(TCS).Many TCP techniques are available,and their performance is usually measured through a metric Average Percentage of Fault Detection(APFD).This metric is value-neutral because it only works well when all test cases have the same cost,and all faults have the same severity.Using APFD for performance evaluation of test case orders where test cases cost or faults severity varies is prone to produce false results.Therefore,using the right metric for performance evaluation of TCP techniques is very important to get reliable and correct results.In this paper,two value-based TCP techniques have been introduced using Genetic Algorithm(GA)including Value-Cognizant Fault Detection-Based TCP(VCFDB-TCP)and Value-Cognizant Requirements Coverage-Based TCP(VCRCB-TCP).Two novel value-based performance evaluation metrics are also introduced for value-based TCP including Average Percentage of Fault Detection per value(APFDv)and Average Percentage of Requirements Coverage per value(APRCv).Two case studies are performed to validate proposed techniques and performance evaluation metrics.The proposed GA-based techniques outperformed the existing state-of-the-art TCP techniques including Original Order(OO),Reverse Order(REV-O),Random Order(RO),and Greedy algorithm.
基金The authors extend their appreciation to the Deanship of Scientific Research at King Khalid University for funding this work through Large Groups,Project under grant number RGP.2/49/43.
文摘Regression testing is a widely used approach to confirm the correct functionality of the software in incremental development.The use of test cases makes it easier to test the ripple effect of changed requirements.Rigorous testingmay help in meeting the quality criteria that is based on the conformance to the requirements as given by the intended stakeholders.However,a minimized and prioritized set of test cases may reduce the efforts and time required for testingwhile focusing on the timely delivery of the software application.In this research,a technique named Test Reduce has been presented to get a minimal set of test cases based on high priority to ensure that the web applicationmeets the required quality criteria.A new technique TestReduce is proposed with a blend of genetic algorithm to find an optimized and minimal set of test cases.The ultimate objective associated with this study is to provide a technique that may solve the minimization problem of regression test cases in the case of linked requirements.In this research,the 100-Dollar prioritization approach is used to define the priority of the new requirements.
基金the National Natural Science Foundation of China,No.81920108018(Li T and Sham P),No.82001409(Zhang YM)the Key R&D Program of Zhejiang,No.2022C03096(Li T)Project for Hangzhou Medical Disciplines of Excellence。
文摘BACKGROUND Several genetic testing techniques have been recommended as a first-tier diagnostic tool in clinical practice for diagnosing autism spectrum disorder(ASD).However,the actual usage rate varies dramatically.This is due to various reasons,including knowledge and attitudes of caregivers,patients,and health providers toward genetic testing.Several studies have therefore been conducted worldwide to investigate the knowledge,experiences,and attitudes toward genetic testing among caregivers of children with ASD,adolescent and adult ASD patients,and health providers who provide medical services for them.However,no systematic review has been done.AIM To systematically review research on knowledge,experiences,and attitudes towards genetic testing among caregivers of children with ASD,adolescent and adult ASD patients,and health providers.METHODS We followed the Preferred Reporting Items for Systematic Reviews and Metaanalyses guidelines and searched the literature in three English language databases(PubMed,Web of Science,and PsychInfo)and two Chinese databases(CNKI and Wanfang).Searched literature was screened independently by two reviewers and discussed when inconsistency existed.Information on characteristics of the study,characteristics of participants,and main findings regarding knowledge,experience,and attitudes of caregivers of children with ASD,adolescent and adult ASD patients,and health providers concerning ASD genetic testing were extracted from included papers into a charting form for analysis.RESULTS We included 30 studies published between 2012 and 2022 and conducted in 9 countries.Most of the studies(n=29)investigated caregivers of children with ASD,one study also included adolescent and adult patients,and two covered health providers.Most(51.0%-100%)of the caregivers/patients knew there was a genetic cause for ASD and 17.0%to 78.1%were aware of ASD genetic testing.However,they lacked full understanding of genetic testing.They acquired relevant and necessary information from physicians,the internet,ASD organizations,and other caregivers.Between 9.1%to 72.7%of caregivers in different studies were referred for genetic testing,and between 17.4%to 61.7%actually obtained genetic testing.Most caregivers agreed there are potential benefits following genetic testing,including benefits for children,families,and others.However,two studies compared perceived pre-test and post-test benefits with conflicting findings.Caregivers concerns included high costs,unhelpful results,negative influences(e.g.,causing family conflicts,causing stress/risk/pain to children etc.)prevented some caregivers from using genetic testing.Nevertheless,46.7%to 95.0%caregivers without previous genetic testing experience intended to obtain it in the future,and 50.5%to 59.6%of parents previously obtaining genetic testing would recommend it to other parents.In a single study of child and adolescent psychiatrists,54.9%of respondents had ordered ASD genetic testing for their patients in the prior 12 mo,which was associated with greater knowledge of genetic testing.CONCLUSION Most caregivers are willing to learn about and use genetic testing.However,the review showed their current knowledge is limited and usage rates varied widely in different studies.
基金Supported by the Earmarked Fund for the China Agriculture Research System(No.CARS-48)the Key Scientific and Technological Grant of Zhejiang for Breeding New Agricultural Varieties(No.2021 C 02069-4-3)the Major Research&Development Program(modern agriculture)of Jiangsu Province(No.BE 2019352)。
文摘To identify the cause of mass mortality of adult Macrobrachium rosenbergii in a farm in Gaoyou City,Jiangsu Province,China,a dominant strain named DKQ-1 was isolated from the hepatopancreas of dying M.rosenbergii and identified as Aeromonas dhakensis by purification culture,biochemical characterization,and 16S rRNA and gyrB gene sequence analysis.The results of the challenge test revealed that the strain was highly pathogenic and the 50%lethal dose(LD_(50))in 72 h to M.rosenbergii was 1.54×10^(5)CFU/mL.The amplification results of virulence genes show that strain DKQ-1 carried 9 virulence genes,including ascV,aexT,aer,act,lip,ompAI,gcaT,acg,and exu,supporting the strong virulence of strain DKQ-1 to M.rosenbergii.Histopathological observation of the hepatopancreas,gills,and intestines indicated that DKQ-1 injection into M.rosenbergii could cause serious tissue damage,which further supported the strong virulence of this strain.In addition,a drug susceptibility test revealed that strain DKQ-1 was sensitive to 16 kinds of antibiotics,resistant to 9 kinds of antibiotics,and had intermediate resistance to spectinomycin and kanamycin.This study is the first report of A.dhakensis isolated from M.rosenbergii and provided a reference for the pathogen identification of bacterial diseases in M.rosenbergii,and for the prevention and treatment caused by A.dhakensis.
基金supported by the Scientific and Innovative Action Plan of Shanghai(21N31900800)Shanghai Rising-Star Program(23QB1403500)+4 种基金the Shanghai Sailing Program(20YF1443000)Shanghai Science and Technology Commission,the Belt and Road Project(20310750500)Talent Project of SAAS(2023-2025)Runup Plan of SAAS(ZP22211)the SAAS Program for Excellent Research Team(2022(B-16))。
文摘Traditional transgenic detection methods require high test conditions and struggle to be both sensitive and efficient.In this study,a one-tube dual recombinase polymerase amplification(RPA)reaction system for CP4-EPSPS and Cry1Ab/Ac was proposed and combined with a lateral flow immunochromatographic assay,named“Dual-RPA-LFD”,to visualize the dual detection of genetically modified(GM)crops.In which,the herbicide tolerance gene CP4-EPSPS and the insect resistance gene Cry1Ab/Ac were selected as targets taking into account the current status of the most widespread application of insect resistance and herbicide tolerance traits and their stacked traits.Gradient diluted plasmids,transgenic standards,and actual samples were used as templates to conduct sensitivity,specificity,and practicality assays,respectively.The constructed method achieved the visual detection of plasmid at levels as low as 100 copies,demonstrating its high sensitivity.In addition,good applicability to transgenic samples was observed,with no cross-interference between two test lines and no influence from other genes.In conclusion,this strategy achieved the expected purpose of simultaneous detection of the two popular targets in GM crops within 20 min at 37°C in a rapid,equipmentfree field manner,providing a new alternative for rapid screening for transgenic assays in the field.
基金Funded by the Scientific Research Project of Shanghai Municipal Health Commission(No.201940430)。
文摘Our previous studies have successfully grafted biotin and galactose onto chitosan(CS)and synthesized biotin modified galactosylated chitosan(Bio-GC).The optimum N/P ratio of Bio-GC and plasmid DNA was 3:1.At this N/P ratio,the transfection efficiency in the hepatoma cells was the highest with a slow release effect.Bio-GC nanomaterials exhibit the protective effect of preventing the gene from nuclease degradation,and can target the transfection into hepatoma cells by combination with galactose and biotin receptors.The transfection rate was inhibited by the competition of galactose and biotin.Bio-GC nanomaterials were imported into cells’cytoplasm by their receptors,followed by the imported exogenous gene transfected into the cells.Bio-GC nanomaterials can also cause inhibitory activity in the hepatoma cells in the model of orthotopic liver transplantation in mice,by carrying the gene through the blood to the hepatoma tissue.Taken together,bio-GC nanomaterials act as gene vectors with the activity of protecting the gene from DNase degradation,improving the rate of transfection in hepatoma cells,and transporting the gene into the cytoplasm in vitro and in vivo.Therefore,they are efficient hepatoma-targeting gene carriers.
文摘Confining stresses serve as a pivotal determinant in shaping the behavior of grouted rock bolts.Nonetheless,prior investigations have oversimplified the three-dimensional stress state,primarily assuming hydrostatic stress conditions.Under these conditions,it is assumed that the intermediate principal stress(σ_(2))equals the minimum principal stress(σ_(3)).This assumption overlooks the potential variations in magnitudes of in situ stress conditions along all three directions near an underground opening where a rock bolt is installed.In this study,a series of push tests was meticulously conducted under triaxial conditions.These tests involved applying non-uniform confining stresses(σ_(2)≠σ_(3))to cubic specimens,aiming to unveil the previously overlooked influence of intermediate principal stresses on the strength properties of rock bolts.The results show that as the confining stresses increase from zero to higher levels,the pre-failure behavior changes from linear to nonlinear forms,resulting in an increase in initial stiffness from 2.08 kN/mm to 32.51 kN/mm.The load-displacement curves further illuminate distinct post-failure behavior at elevated levels of confining stresses,characterized by enhanced stiffness.Notably,the peak load capacity ranged from 27.9 kN to 46.5 kN as confining stresses advanced from σ_(2)=σ_(3)=0 to σ_(2)=20 MPa and σ_(3)=10 MPa.Additionally,the outcomes highlight an influence of confining stress on the lateral deformation of samples.Lower levels of confinement prompt overall dilation in lateral deformation,while higher confinements maintain a state of shrinkage.Furthermore,diverse failure modes have been identified,intricately tied to the arrangement of confining stresses.Lower confinements tend to induce a splitting mode of failure,whereas higher loads bring about a shift towards a pure interfacial shear-off and shear-crushed failure mechanism.
文摘Recurrent spontaneous abortion (RSA) is a complex and heterogeneous disorder with multiple etiologies. Genetic factors are thought to play an important role in the etiology of RSA. With recent advances in genetic testing technologies, there has been an increasing interest in using these tools to diagnose the etiology of RSA. This review discusses the different types of genetic testing methods, such as karyotyping, chromosomal microarray analysis, next-generation sequencing, and their applications in the diagnosis of the etiology RSA. The use of genetic testing in the diagnosis of RSA has the potential to improve the accuracy of diagnosis and the understanding of the underlying mechanisms of the disorder, which could lead to better management and treatment of affected individuals.
基金supported by grants from the National Key R&D Program Project Funding(Grant No.2018YFD1000607)the Foundation for 100 Innovative Talents of Hebei Province(Grant No.SLRC2019031)+1 种基金the National Natural Science Foundation of China(Grant No.31772285)the Hebei Province Innovation Foundation for Postgraduates(Grant No.CXZZBS2020097)。
文摘Jujube witches’broom(JWB)caused by phytoplasma has a severely negative effect on multiple metabolisms in jujube.The GST gene family in plants participates in the regulation of a variety of biotic and abiotic stresses.This study aims to identify and reveal the changes in the jujube GST gene family in response to phytoplasma infection.Here,70 ZjGSTs were identified in the jujube genome and divided into 8 classes.Among them,the Tau-class,including 44 genes,was the largest.Phylogenetic analysis indicated that Tau-class genes were highly conserved among species,such as Arabidopsis,cotton,chickpea,and rice.Through chromosome location analysis,37.1%of genes were clustered,and 8 of 9 gene clusters were composed of Tau class members.Through RT-PCR,qRT-PCR and enzyme activity detection,the results showed that the expression of half(20/40)of the tested ZjGSTs was inhibited by phytoplasma infection in field and tissue culture conditions,and GST activity was also significantly reduced.In the resistant and susceptible varieties under phytoplasma infection,ZjGSTU49-ZjGSTU54 in the cluster IV showed opposite expression patterns,which may be due to functional divergence during evolution.Some upregulated genes(ZjGSTU45,ZjGSTU49,ZjGSTU59,and ZjGSTU70)might be involved in the process of jujube against JWB.The yeast two-hybrid results showed that all 6 Tauclass proteins tested could form homodimers or heterodimers.Overall,the comprehensive analysis of the jujube GST gene family revealed that ZjGSTs responded actively to phytoplasma infection.Furthermore,some screened genes(ZjGSTU24,ZjGSTU49-52,ZjGSTU70,and ZjDHAR10)will contribute to further functional studies of jujube-phytoplasma interactions.
文摘Edge devices,due to their limited computational and storage resources,often require the use of compilers for program optimization.Therefore,ensuring the security and reliability of these compilers is of paramount importance in the emerging field of edge AI.One widely used testing method for this purpose is fuzz testing,which detects bugs by inputting random test cases into the target program.However,this process consumes significant time and resources.To improve the efficiency of compiler fuzz testing,it is common practice to utilize test case prioritization techniques.Some researchers use machine learning to predict the code coverage of test cases,aiming to maximize the test capability for the target compiler by increasing the overall predicted coverage of the test cases.Nevertheless,these methods can only forecast the code coverage of the compiler at a specific optimization level,potentially missing many optimization-related bugs.In this paper,we introduce C-CORE(short for Clustering by Code Representation),the first framework to prioritize test cases according to their code representations,which are derived directly from the source codes.This approach avoids being limited to specific compiler states and extends to a broader range of compiler bugs.Specifically,we first train a scaled pre-trained programming language model to capture as many common features as possible from the test cases generated by a fuzzer.Using this pre-trained model,we then train two downstream models:one for predicting the likelihood of triggering a bug and another for identifying code representations associated with bugs.Subsequently,we cluster the test cases according to their code representations and select the highest-scoring test case from each cluster as the high-quality test case.This reduction in redundant testing cases leads to time savings.Comprehensive evaluation results reveal that code representations are better at distinguishing test capabilities,and C-CORE significantly enhances testing efficiency.Across four datasets,C-CORE increases the average of the percentage of faults detected(APFD)value by 0.16 to 0.31 and reduces test time by over 50% in 46% of cases.When compared to the best results from approaches using predicted code coverage,C-CORE improves the APFD value by 1.1% to 12.3% and achieves an overall time-saving of 159.1%.
文摘Noncoding RNAs instruct the Cas9 nuclease to site speifillyl cleave DNA in the CRISPR/Cas9 system.Despite the high incidence of hepatocellular carcinoma(HCC),the patient's outcome is poor.As a result of the emergence of therapeutic resistance in HCC patients,dlinicians have faced difficulties in treating such tumor.In addition,CRISPR/Cas9 screens were used to identify genes that improve the dlinical response of HCC patients.It is the objective of this article to summarize the current understanding of the use of the CRISPR/Cas9 system for the treatment of cancer,with a particular emphasis on HCC as part of the current state of knowledge.Thus,in order to locate recent developments in oncology research,we examined both the Scopus database and the PubMed database.The ability to selectively interfere with gene expression in combinatorial CRISPR/Cas9 screening can lead to the discovery of new effective HCC treatment regimens by combining clinically approved drugs.Drug resistance can be overcome with the help of the CRISPR/Cas9 system.HCC signature genes and resistance to treatment have been uncovered by genome-scale CRISPR activation screening although this method is not without limitations.It has been extensively examined whether CRISPR can be used as a tool for disease research and gene therapy.CRISPR and its applications to tumor research,particularly in HCC,are examined in this study through a review of the literature.
基金supported by the National Natural Science Foundation of China (32273136,31872572)Agriculture Research System of China (ARS-47)+1 种基金Science and Technology Planning Project of Guangdong Province (2023B1212060023)Southern Marine Science and Engineering Guangdong Laboratory (Zhuhai) (SML2023SP201)。
文摘Animal body size variation is of particular interest in evolutionary biology,but the genetic basis remains largely unknown.Previous studies have shown the presence of two parallel evolutionary genetic clusters within the fish genus Epinephelus with evident divergence in body size,providing an excellent opportunity to investigate the genetic basis of body size variation in vertebrates.Herein,we performed phylotranscriptomic analysis and reconstructed the phylogeny of 13 epinephelids originating from the South China Sea.Two genetic clades with an estimated divergence time of approximately 15.4 million years ago were correlated with large and small body size,respectively.A total of 180 rapidly evolving genes and two positively selected genes were identified between the two groups.Functional enrichment analyses of these candidate genes revealed distinct enrichment categories between the two groups.These pathways and genes may play important roles in body size variation in groupers through complex regulatory networks.Based on our results,we speculate that the ancestors of the two divergent groups of groupers may have adapted to different environments through habitat selection,leading to genetic variations in metabolic patterns,organ development,and lifespan,resulting in body size divergence between the two locally adapted populations.These findings provide important insights into the genetic mechanisms underlying body size variation in groupers and species differentiation.
文摘BACKGROUND A growing number of clinical examples suggest that coronavirus disease 2019(COVID-19)appears to have an impact on the treatment of patients with liver cancer compared to the normal population,and the prevalence of COVID-19 is significantly higher in patients with liver cancer.However,this mechanism of action has not been clarified.Gene sets for COVID-19(GSE180226)and liver cancer(GSE87630)were obtained from the Gene Expression Omnibus database.After identifying the common differentially expressed genes(DEGs)of COVID-19 and liver cancer,functional enrichment analysis,protein-protein interaction network construction and scree-ning and analysis of hub genes were performed.Subsequently,the validation of the differential expression of hub genes in the disease was performed and the regulatory network of transcription factors and hub genes was constructed.RESULTS Of 518 common DEGs were obtained by screening for functional analysis.Fifteen hub genes including aurora kinase B,cyclin B2,cell division cycle 20,cell division cycle associated 8,nucleolar and spindle associated protein 1,etc.,were further identified from DEGs using the“cytoHubba”plugin.Functional enrichment analysis of hub genes showed that these hub genes are associated with P53 signalling pathway regulation,cell cycle and other functions,and they may serve as potential molecular markers for COVID-19 and liver cancer.Finally,we selected 10 of the hub genes for in vitro expression validation in liver cancer cells.CONCLUSION Our study reveals a common pathogenesis of liver cancer and COVID-19.These common pathways and key genes may provide new ideas for further mechanistic studies.
基金supported by Medical University of Silesia research grants,No.PCN-1-129/N/2/O(to AS)。
文摘Gene therapies,despite of being a relatively new therapeutic approach,have a potential to become an important alternative to current treatment strategies in glaucoma.Since glaucoma is not considered a single gene disease,the identified goals of gene therapy would be rather to provide neuroprotection of retinal ganglion cells,especially,in intraocular-pressure-independent manner.The most commonly reported type of vector for gene delivery in glaucoma studies is adeno-associated virus serotype 2 that has a high tro pism to retinal ganglion cells,res ulting in long-term expression and low immunogenic profile.The gene thera py studies recruit inducible and genetic animal models of optic neuropathy,like DBA/2J mice model of high-tension glaucoma and the optic nerve crush-model.Reported gene therapy-based neuroprotection of retinal ganglion cells is targeting specific genes translating to growth factors(i.e.,brain derived neurotrophic factor,and its receptor TrkB),regulation of apoptosis and neurodegeneration(i.e.,Bcl-xl,Xiap,FAS system,nicotinamide mononucleotide adenylyl transferase 2,Digit3 and Sarm1),immunomodulation(i.e.,Crry,C3 complement),modulation of neuroinflammation(i.e.,e rythropoietin),reduction of excitotoxicity(i.e.,Com KIlα)and transcription regulation(i.e.,Max,Nrf2).On the other hand,some of gene therapy studies focus on lowering intra ocular pressure,by impacting genes involved in both,decreasing aqueous humor production(i.e.,aquaporin 1),and increasing outflow facility(i.e.,COX2,prostaglandin F2a receptor,RhoA/RhoA kinase signaling pathway,MMP1,Myocilin).The goal of this review is to summarize the current stateof-art and the direction of development of gene therapy strategies for glaucomatous neuropathy.
