Titre : N-terminal acetyltransferase E

N-terminal acetyltransferase E : Questions médicales fréquentes

Termes MeSH sélectionnés :

DNA Copy Number Variations
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"fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur N-terminal acetyltransferase E", "description": "Comment diagnostiquer une déficience en N-terminal acetyltransferase E ?\nQuels tests sont utilisés pour évaluer l'activité de cette enzyme ?\nY a-t-il des biomarqueurs associés à cette enzyme ?\nQuels symptômes peuvent indiquer un problème avec cette enzyme ?\nPeut-on détecter des mutations génétiques liées à cette enzyme ?", "url": "https://questionsmedicales.fr/mesh/D063213?mesh_terms=DNA+Copy+Number+Variations&page=3#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur N-terminal acetyltransferase E", "description": "Quels sont les symptômes d'une déficience en N-terminal acetyltransferase E ?\nLes symptômes varient-ils selon l'âge ?\nY a-t-il des symptômes spécifiques à surveiller ?\nLes symptômes sont-ils réversibles ?\nComment les symptômes évoluent-ils avec le temps ?", "url": "https://questionsmedicales.fr/mesh/D063213?mesh_terms=DNA+Copy+Number+Variations&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur N-terminal acetyltransferase E", "description": "Peut-on prévenir les troubles liés à cette enzyme ?\nY a-t-il des conseils diététiques pour les patients ?\nLes tests génétiques peuvent-ils aider à la prévention ?\nLes vaccinations sont-elles importantes pour ces patients ?\nComment le suivi médical aide-t-il à la prévention ?", "url": "https://questionsmedicales.fr/mesh/D063213?mesh_terms=DNA+Copy+Number+Variations&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur N-terminal acetyltransferase E", "description": "Quels traitements sont disponibles pour cette condition ?\nY a-t-il des médicaments spécifiques pour cette enzyme ?\nLa thérapie génique est-elle une option ?\nComment la physiothérapie peut-elle aider ?\nLes traitements sont-ils personnalisés ?", "url": "https://questionsmedicales.fr/mesh/D063213?mesh_terms=DNA+Copy+Number+Variations&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur N-terminal acetyltransferase E", "description": "Quelles complications peuvent survenir avec cette condition ?\nLes complications sont-elles évitables ?\nComment les complications affectent-elles la qualité de vie ?\nY a-t-il des risques de complications à long terme ?\nLes complications peuvent-elles être gérées ?", "url": "https://questionsmedicales.fr/mesh/D063213?mesh_terms=DNA+Copy+Number+Variations&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur N-terminal acetyltransferase E", "description": "Quels sont les facteurs de risque associés à cette enzyme ?\nL'environnement joue-t-il un rôle dans cette condition ?\nLes facteurs de risque sont-ils modifiables ?\nY a-t-il des groupes à risque plus élevé ?\nLes tests de dépistage sont-ils recommandés pour les familles à risque ?", "url": "https://questionsmedicales.fr/mesh/D063213?mesh_terms=DNA+Copy+Number+Variations&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une déficience en N-terminal acetyltransferase E ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur des tests génétiques et des analyses enzymatiques." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour évaluer l'activité de cette enzyme ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests biochimiques mesurant l'acétylation des protéines sont utilisés." } }, { "@type": "Question", "name": "Y a-t-il des biomarqueurs associés à cette enzyme ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'existe pas de biomarqueurs spécifiques largement reconnus." } }, { "@type": "Question", "name": "Quels symptômes peuvent indiquer un problème avec cette enzyme ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Des troubles métaboliques ou neurologiques peuvent suggérer une anomalie." } }, { "@type": "Question", "name": "Peut-on détecter des mutations génétiques liées à cette enzyme ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des mutations dans le gène codant pour l'enzyme peuvent être identifiées." } }, { "@type": "Question", "name": "Quels sont les symptômes d'une déficience en N-terminal acetyltransferase E ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent inclure des troubles neurologiques et des anomalies de croissance." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon l'âge ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes peuvent se manifester différemment selon l'âge du patient." } }, { "@type": "Question", "name": "Y a-t-il des symptômes spécifiques à surveiller ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Des retards de développement et des troubles cognitifs sont à surveiller." } }, { "@type": "Question", "name": "Les symptômes sont-ils réversibles ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Certains symptômes peuvent être gérés, mais d'autres peuvent être permanents." } }, { "@type": "Question", "name": "Comment les symptômes évoluent-ils avec le temps ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent s'aggraver avec le temps sans intervention appropriée." } }, { "@type": "Question", "name": "Peut-on prévenir les troubles liés à cette enzyme ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La prévention est difficile, mais un diagnostic précoce peut aider à gérer les symptômes." } }, { "@type": "Question", "name": "Y a-t-il des conseils diététiques pour les patients ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Une alimentation équilibrée et riche en nutriments est recommandée." } }, { "@type": "Question", "name": "Les tests génétiques peuvent-ils aider à la prévention ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests génétiques peuvent identifier les porteurs et les risques." } }, { "@type": "Question", "name": "Les vaccinations sont-elles importantes pour ces patients ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Les vaccinations sont importantes pour prévenir les infections, surtout chez les enfants." } }, { "@type": "Question", "name": "Comment le suivi médical aide-t-il à la prévention ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Un suivi régulier permet d'identifier et de traiter rapidement les complications." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour cette condition ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent la thérapie symptomatique et le soutien nutritionnel." } }, { "@type": "Question", "name": "Y a-t-il des médicaments spécifiques pour cette enzyme ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'existe pas de médicaments spécifiques ciblant cette enzyme." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie génique est en recherche, mais pas encore disponible cliniquement." } }, { "@type": "Question", "name": "Comment la physiothérapie peut-elle aider ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "La physiothérapie peut améliorer la mobilité et la fonction physique des patients." } }, { "@type": "Question", "name": "Les traitements sont-ils personnalisés ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les traitements peuvent être adaptés en fonction des symptômes et des besoins." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec cette condition ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des troubles neurologiques graves et des retards de développement." } }, { "@type": "Question", "name": "Les complications sont-elles évitables ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être évitées avec un traitement précoce et approprié." } }, { "@type": "Question", "name": "Comment les complications affectent-elles la qualité de vie ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Les complications peuvent significativement réduire la qualité de vie des patients." } }, { "@type": "Question", "name": "Y a-t-il des risques de complications à long terme ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des risques de complications à long terme existent sans intervention adéquate." } }, { "@type": "Question", "name": "Les complications peuvent-elles être gérées ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, de nombreuses complications peuvent être gérées avec un suivi médical approprié." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque associés à cette enzyme ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs de risque incluent des antécédents familiaux et des mutations génétiques." } }, { "@type": "Question", "name": "L'environnement joue-t-il un rôle dans cette condition ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Des facteurs environnementaux peuvent influencer l'expression des gènes liés à l'enzyme." } }, { "@type": "Question", "name": "Les facteurs de risque sont-ils modifiables ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Certains facteurs, comme le mode de vie, peuvent être modifiés pour réduire les risques." } }, { "@type": "Question", "name": "Y a-t-il des groupes à risque plus élevé ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les individus avec des antécédents familiaux de troubles métaboliques sont à risque." } }, { "@type": "Question", "name": "Les tests de dépistage sont-ils recommandés pour les familles à risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage génétique est recommandé pour les familles avec des antécédents." } } ] } ] }

Sources (10000 au total)

A pan-cancer landscape of pathogenic somatic copy number variations.

Copy number variations (CNVs) play crucial roles in physiological and pathological processes, including cancer. However, the functional implications of somatic CNVs in tumor progression and evolution ... Starting from 7352 copy number profiles across 33 different cancer types, we infer the pathogenicity of each CNV and perform both intra- and inter-tumor analyses to predict the functional impact of di... Our analysis uncovered large heterogeneity among different tumors suggesting in many cases distinct genetic drivers of tumorigenesis. Recurrent genomic alterations frequently coincide with dysfunction... This study contributes to elucidate the functional impact of pathogenic CNVs in tumor progression and sheds light on their potential as prognostic markers in specific cancer types....

Contribution of copy number variations to the risk of severe eating disorders.

Eating disorders (EDs) are complex, multifactorial psychiatric conditions. Previous studies identified pathogenic copy number variations associated with NDDs (NDD-CNVs) in ED patients. However, no sta... Using array comparative genomic hybridization (aCGH), we conducted a high-resolution CNV analysis of 71 severe female ED patients and 1045 female controls. According to the American College of Medical... Of the samples analyzed with aCGH, 70 severe ED patients (98.6%) and 1036 controls (99.1%) passed our quality control filtering. We obtained 189 and 2539 rare CNVs from patients and controls, respecti... Our study provides the first preliminary evidence that NDD-CNVs may confer risk for severe EDs. The pathophysiology may involve synaptic dysfunction....

Prognostic and survival impact of BCL9 and RPS6KB1 copy number variation detected from circulating free DNA in hepatocellular carcinoma.

Circulating cell-free DNA (cfDNA) is a noninvasive substitute to liver biopsy for hepatocellular carcinoma (HCC) molecular profiling. This study aimed to use cfDNA to investigate copy number variation... Real-Time Polymerase Chain Reaction was used to determine the CNV and cfDNA integrity index in 100 HCC patients.... CNV gain in BCL9 and RPS6KB1 genes was detected in 14% and 24% of patients, respectively. Gain in CNV of BCL9 associated with risk of HCC in alcohol drinkers and hepatitis C seropositivity. In patient... cfDNA was used to detect BCL9 and RPS6KB1 CNVs, which influence prognosis and can be used as independent predictors of HCC patient survival....

Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism.

Venous thromboembolism (VTE) is a common disease with high heritability. However, only a small portion of the genetic variance of VTE can be explained by known genetic risk factors. Neutrophil extrace...

Mitochondrial DNA copy number and risk of papillary thyroid carcinoma.

Mitochondrial DNA (mtDNA) copy number is associated with tumor activity and carcinogenesis. This study was undertaken to investigate mtDNA copy number in papillary thyroid cancer (PTC) tissues and to ... DNA was extracted from 105 PTC tissues and 67 control thyroid tissues, and mtDNA copy number mtDNA oxidative damage were determined using qPCR techniques.... Overall, the relative mtDNA copy number was significantly higher in PTC patients (p < 0.001). The risk of developing PTC increased significantly across the tertiles of mtDNA copy number (p trend < 0.0... Our results indicated that the augmentation of mtDNA content plays a significant role during the initiation of thyroid cancer, and it might represent a potential biomarker for predicting the risk of P...

Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia.

Considering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes using karyotyping and CNVs and elucidate the associated gene... A total of 1157 azoospermia and oligospermia patients were recruited, of whom, 769 and 674 underwent next-generation sequencing (NGS) to identify CNVs and routine G-band karyotyping, respectively.... First, 286 patients were co-analyzed using CNV sequencing (CNV-seq) and karyotyping. Of the 725 and 432 patients with azoospermia and oligospermia, 33.8% and 48.9% had abnormal karyotypes and CNVs, re... Sex chromosome and autosomal CNV loci, such as Xp22.31 and 2p24.3, as well as the associated genes, such as VCX and NACAP9, could be candidate spermatogenesis genes. The high-frequency abnormal karyot...

dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations.

Copy number variation (CNV) is a type of structural variation, which is a gain or loss event with abnormal changes in copy number. Methods to predict the pathogenicity of CNVs are required to realize ... From single nucleotide polymorphism (SNP), gene and region dimensions, we collected 79 informative features that quantitatively describe the characteristics of CNV, such as CNV length, the number of p... The performance of the dbCNV suggest that functional deleteriousness-based model of CNV is a promising approach to support the classification prediction and to further understand the pathogenic mechan...