N-terminal acetyltransferase E : Questions médicales fréquentes
Nom anglais: N-Terminal Acetyltransferase E
Descriptor UI:D063213
Tree Number:D08.811.913.050.134.423.500
Termes MeSH sélectionnés :
DNA Copy Number Variations
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "N-terminal acetyltransferase E : Questions médicales les plus fréquentes",
"headline": "N-terminal acetyltransferase E : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les N-terminal acetyltransferase E : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-03-04",
"dateModified": "2025-02-27",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "N-terminal acetyltransferase E"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "N-terminal acetyltransferases",
"url": "https://questionsmedicales.fr/mesh/D063206",
"about": {
"@type": "MedicalCondition",
"name": "N-terminal acetyltransferases",
"code": {
"@type": "MedicalCode",
"code": "D063206",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D08.811.913.050.134.423"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "N-terminal acetyltransferase E",
"alternateName": "N-Terminal Acetyltransferase E",
"code": {
"@type": "MedicalCode",
"code": "D063213",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Thomas Arnesen",
"url": "https://questionsmedicales.fr/author/Thomas%20Arnesen",
"affiliation": {
"@type": "Organization",
"name": "Department of Biological Sciences, University of Bergen, Bergen, Norway."
}
},
{
"@type": "Person",
"name": "Ronen Marmorstein",
"url": "https://questionsmedicales.fr/author/Ronen%20Marmorstein",
"affiliation": {
"@type": "Organization",
"name": "Department of Chemistry, University of Pennsylvania, Philadelphia, PA, United States; Abramson Family Cancer Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address: marmor@upenn.edu."
}
},
{
"@type": "Person",
"name": "Sunbin Deng",
"url": "https://questionsmedicales.fr/author/Sunbin%20Deng",
"affiliation": {
"@type": "Organization",
"name": "Department of Chemistry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, United States."
}
},
{
"@type": "Person",
"name": "Antonis Kirmizis",
"url": "https://questionsmedicales.fr/author/Antonis%20Kirmizis",
"affiliation": {
"@type": "Organization",
"name": "Epigenetics and Gene Regulation Laboratory, Department of Biological Sciences, University of Cyprus, Nicosia 2109, Cyprus."
}
},
{
"@type": "Person",
"name": "Henriette Aksnes",
"url": "https://questionsmedicales.fr/author/Henriette%20Aksnes",
"affiliation": {
"@type": "Organization",
"name": "Department of Biomedicine, University of Bergen, Bergen, Norway. Electronic address: henriette.aksnes@uib.no."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Copy-number analysis by base-level normalization: An intuitive visualization tool for evaluating copy number variations.",
"datePublished": "2022-10-03",
"url": "https://questionsmedicales.fr/article/36152294",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1111/cge.14236"
}
},
{
"@type": "ScholarlyArticle",
"name": "Multiple copy number variation in a patient with Kleefstra syndrome.",
"datePublished": "2023-09-15",
"url": "https://questionsmedicales.fr/article/37729241",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1590/1984-0462/2024/42/2022230"
}
},
{
"@type": "ScholarlyArticle",
"name": "Clinical Findings on Chromosome 1 Copy Number Variations.",
"datePublished": "2022-07-14",
"url": "https://questionsmedicales.fr/article/35835157",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1055/s-0042-1754162"
}
},
{
"@type": "ScholarlyArticle",
"name": "Copy Number Variation among Resistance Genes Analogues in",
"datePublished": "2022-11-04",
"url": "https://questionsmedicales.fr/article/36360273",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3390/genes13112037"
}
},
{
"@type": "ScholarlyArticle",
"name": "A crowdsourcing database for the copy-number variation of the Spanish population.",
"datePublished": "2023-03-09",
"url": "https://questionsmedicales.fr/article/36894999",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1186/s40246-023-00466-8"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Enzymes et coenzymes",
"item": "https://questionsmedicales.fr/mesh/D045762"
},
{
"@type": "ListItem",
"position": 3,
"name": "Enzymes",
"item": "https://questionsmedicales.fr/mesh/D004798"
},
{
"@type": "ListItem",
"position": 4,
"name": "Transferases",
"item": "https://questionsmedicales.fr/mesh/D014166"
},
{
"@type": "ListItem",
"position": 5,
"name": "Acyltransferases",
"item": "https://questionsmedicales.fr/mesh/D000217"
},
{
"@type": "ListItem",
"position": 6,
"name": "Acetyltransferases",
"item": "https://questionsmedicales.fr/mesh/D000123"
},
{
"@type": "ListItem",
"position": 7,
"name": "N-terminal acetyltransferases",
"item": "https://questionsmedicales.fr/mesh/D063206"
},
{
"@type": "ListItem",
"position": 8,
"name": "N-terminal acetyltransferase E",
"item": "https://questionsmedicales.fr/mesh/D063213"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : N-terminal acetyltransferase E - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur N-terminal acetyltransferase E",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-17",
"inLanguage": "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=2#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=2#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=2#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=2#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=2#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=2#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."
}
}
]
}
]
}
Next-generation sequencing (NGS) facilitates comprehensive molecular analyses that help with diagnosing unsolved disorders. In addition to detecting single-nucleotide variations and small insertions/d...
To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants....
Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar cre...
The presence of pathogenic CNVs and/or those of uncertain significance, located on chromosomes 2, 6 and Y, may be contributing to a variability in the patient's clinical condition (arachnoid cyst, sin...
Copy number variants (CNVs) are a major contribution to genome variability, and the presence of CNVs on chromosome 1 is a known cause of morbidity. The main objective of this study was to contribute t...
Copy number variations (CNVs) are defined as deletions, duplications and insertions among individuals of a species. There is growing evidence that CNV is a major factor underlining various autoimmune ...
Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood. The knowledge of the genetic variability, especia...
Here, we present the SPAnish Copy Number Alterations Collaborative Server (SPACNACS), which currently contains copy number variation profiles obtained from more than 400 genomes and exomes of unrelate...
SPACNACS facilitates disease gene discovery by providing detailed information of the local variability of the population and exemplifies how to reuse genomic data produced for other purposes to build ...
Turner syndrome (TS) is one of the most common chromosomal abnormalities with an incidence of approximately one in 2,500 live births. Short stature and primary ovarian insufficiency are two most impor...
Fifty-three patients diagnosed with TS, between the ages of 0-18 were included in the study. Peripheral blood samples were taken from 36 cases for microarray study....
Karyotypes were as follows: thirty-three of cases were 45,X, 7 were 45,X/46,XX, 6 were 45,X/46,Xi(Xq), 2 were 46,Xi(Xq), 2 were 45,X/46,r(X), 1 was 45,X/46,Xi(Xp), 1 was 45,X/46,XY and 1 was 45,X/46,X...
In conclusion, the microarray method has a great contribution in explaining many unexpected findings in TS cases. Moreover, those CNV findings may contribute for the explanation of the underlying mech...
As an important source of genetic variation, copy number variation (CNV) can alter the dosage of DNA segments, which in turn may affect gene expression level and phenotype. However, our knowledge of C...
In this study, we identified 914,610 CNVs comprising 14,839 CNV regions (CNVRs) from 346 apple accessions, including 289 cultivars and 57 wild relatives. CNVRs summed to 71.19 Mb, accounting for 10.03...
This study was based on identification of CNVs from 346 diverse apple accessions, which to our knowledge was the largest dataset for CNV analysis in apple. Our work presented the first comprehensive C...
Recent findings demonstrate that single nucleotide variants can cause non-obstructive azoospermia (NOA). In contrast, copy number variants (CNVs) were only analysed in few studies in infertile men. So...
This study aimed to elucidate if CNVs are associated with NOA....
We performed array-based comparative genomic hybridisation (aCGH) in 37 men with meiotic arrest, 194 men with Sertoli cell-only phenotype, and 21 control men. We filtered our data for deletions affect...
We determined the cause of infertility in two individuals with homozygous deletions of SYCE1 and in one individual with a heterozygous deletion of SYCE1 combined with a likely pathogenic missense vari...
While SYCE1 and MLH3 encode known meiosis-specific proteins, much less is known about the proteins encoded by the other identified candidate genes, warranting further analyses. We were able to identif...
As aCGH and exome sequencing are both expensive methods, combining both in a clinical routine is not an effective strategy. Instead, using CNV calling from exome data has recently become more precise,...