questionsmedicales.fr
Techniques d'investigation
Techniques de chimie analytique
Chromatographie
Chromatographie en phase liquide
Chromatographie en phase liquide : Questions médicales fréquentes
Termes MeSH sélectionnés :
Gain of Function Mutation
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Chromatographie en phase liquide : Questions médicales les plus fréquentes",
"headline": "Chromatographie en phase liquide : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Chromatographie en phase liquide : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-06-16",
"dateModified": "2025-03-13",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Chromatographie en phase liquide"
},
"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": "Chromatographie",
"url": "https://questionsmedicales.fr/mesh/D002845",
"about": {
"@type": "MedicalCondition",
"name": "Chromatographie",
"code": {
"@type": "MedicalCode",
"code": "D002845",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "E05.196.181"
}
}
},
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Chromatographie d'affinité",
"alternateName": "Chromatography, Affinity",
"url": "https://questionsmedicales.fr/mesh/D002846",
"about": {
"@type": "MedicalCondition",
"name": "Chromatographie d'affinité",
"code": {
"@type": "MedicalCode",
"code": "D002846",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "E05.196.181.400.170"
}
},
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Purification par affinité en tandem",
"alternateName": "Tandem Affinity Purification",
"url": "https://questionsmedicales.fr/mesh/D000078791",
"about": {
"@type": "MedicalCondition",
"name": "Purification par affinité en tandem",
"code": {
"@type": "MedicalCode",
"code": "D000078791",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "E05.196.181.400.170.750"
}
}
}
]
},
{
"@type": "MedicalWebPage",
"name": "Chromatographie sur gel",
"alternateName": "Chromatography, Gel",
"url": "https://questionsmedicales.fr/mesh/D002850",
"about": {
"@type": "MedicalCondition",
"name": "Chromatographie sur gel",
"code": {
"@type": "MedicalCode",
"code": "D002850",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "E05.196.181.400.250"
}
},
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Chromatographie sur agarose",
"alternateName": "Chromatography, Agarose",
"url": "https://questionsmedicales.fr/mesh/D002847",
"about": {
"@type": "MedicalCondition",
"name": "Chromatographie sur agarose",
"code": {
"@type": "MedicalCode",
"code": "D002847",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "E05.196.181.400.250.200"
}
}
}
]
},
{
"@type": "MedicalWebPage",
"name": "Chromatographie en phase liquide à haute performance",
"alternateName": "Chromatography, High Pressure Liquid",
"url": "https://questionsmedicales.fr/mesh/D002851",
"about": {
"@type": "MedicalCondition",
"name": "Chromatographie en phase liquide à haute performance",
"code": {
"@type": "MedicalCode",
"code": "D002851",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "E05.196.181.400.300"
}
}
},
{
"@type": "MedicalWebPage",
"name": "Chromatographie d'échange d'ions",
"alternateName": "Chromatography, Ion Exchange",
"url": "https://questionsmedicales.fr/mesh/D002852",
"about": {
"@type": "MedicalCondition",
"name": "Chromatographie d'échange d'ions",
"code": {
"@type": "MedicalCode",
"code": "D002852",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "E05.196.181.400.383"
}
},
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Chromatographie sur DEAE-cellulose",
"alternateName": "Chromatography, DEAE-Cellulose",
"url": "https://questionsmedicales.fr/mesh/D002848",
"about": {
"@type": "MedicalCondition",
"name": "Chromatographie sur DEAE-cellulose",
"code": {
"@type": "MedicalCode",
"code": "D002848",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "E05.196.181.400.383.349"
}
}
}
]
},
{
"@type": "MedicalWebPage",
"name": "Chromatographie sur papier",
"alternateName": "Chromatography, Paper",
"url": "https://questionsmedicales.fr/mesh/D002854",
"about": {
"@type": "MedicalCondition",
"name": "Chromatographie sur papier",
"code": {
"@type": "MedicalCode",
"code": "D002854",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "E05.196.181.400.454"
}
}
},
{
"@type": "MedicalWebPage",
"name": "Chromatographie en phase inverse",
"alternateName": "Chromatography, Reverse-Phase",
"url": "https://questionsmedicales.fr/mesh/D056148",
"about": {
"@type": "MedicalCondition",
"name": "Chromatographie en phase inverse",
"code": {
"@type": "MedicalCode",
"code": "D056148",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "E05.196.181.400.495"
}
}
},
{
"@type": "MedicalWebPage",
"name": "Chromatographie sur couche mince",
"alternateName": "Chromatography, Thin Layer",
"url": "https://questionsmedicales.fr/mesh/D002855",
"about": {
"@type": "MedicalCondition",
"name": "Chromatographie sur couche mince",
"code": {
"@type": "MedicalCode",
"code": "D002855",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "E05.196.181.400.537"
}
}
}
],
"about": {
"@type": "MedicalCondition",
"name": "Chromatographie en phase liquide",
"alternateName": "Chromatography, Liquid",
"code": {
"@type": "MedicalCode",
"code": "D002853",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Mirjana Minceva",
"url": "https://questionsmedicales.fr/author/Mirjana%20Minceva",
"affiliation": {
"@type": "Organization",
"name": "Biothermodynamics, TUM School of Life Sciences Weihenstephan, Technical University of Munich, Maximus-von-Imhof-Forum 2, 85354 Freising, Germany. Electronic address: mirjana.minceva@tum.de."
}
},
{
"@type": "Person",
"name": "Melanie Gerigk",
"url": "https://questionsmedicales.fr/author/Melanie%20Gerigk",
"affiliation": {
"@type": "Organization",
"name": "Biothermodynamics, TUM School of Life Sciences, Technical University of Munich, 85354 Freising, Germany."
}
},
{
"@type": "Person",
"name": "Simon Vlad Luca",
"url": "https://questionsmedicales.fr/author/Simon%20Vlad%20Luca",
"affiliation": {
"@type": "Organization",
"name": "Biothermodynamics, TUM School of Life Sciences, Technical University of Munich, 85354 Freising, Germany."
}
},
{
"@type": "Person",
"name": "Shengqiang Tong",
"url": "https://questionsmedicales.fr/author/Shengqiang%20Tong",
"affiliation": {
"@type": "Organization",
"name": "College of Pharmaceutical Science, Zhejiang University of Technology, Hangzhou, 310032, China. Electronic address: sqtong@zjut.edu.cn."
}
},
{
"@type": "Person",
"name": "Gert Desmet",
"url": "https://questionsmedicales.fr/author/Gert%20Desmet",
"affiliation": {
"@type": "Organization",
"name": "Department of Chemical Engineering, Vrije Universiteit Brussel, Pleinlaan 2, B-1050 Brussel, Belgium."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.",
"datePublished": "2023-02-08",
"url": "https://questionsmedicales.fr/article/36758835",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.jaci.2023.01.023"
}
},
{
"@type": "ScholarlyArticle",
"name": "Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.",
"datePublished": "2022-05-21",
"url": "https://questionsmedicales.fr/article/35596857",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1007/s10875-022-01288-4"
}
},
{
"@type": "ScholarlyArticle",
"name": "Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure.",
"datePublished": "2022-07-06",
"url": "https://questionsmedicales.fr/article/35794153",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1038/s41467-022-31686-6"
}
},
{
"@type": "ScholarlyArticle",
"name": "Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.",
"datePublished": "2023-05-01",
"url": "https://questionsmedicales.fr/article/37122211",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1098/rstb.2022.0165"
}
},
{
"@type": "ScholarlyArticle",
"name": "Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells.",
"datePublished": "2023-03-10",
"url": "https://questionsmedicales.fr/article/36971438",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3791/64558"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Techniques d'investigation",
"item": "https://questionsmedicales.fr/mesh/D008919"
},
{
"@type": "ListItem",
"position": 3,
"name": "Techniques de chimie analytique",
"item": "https://questionsmedicales.fr/mesh/D002623"
},
{
"@type": "ListItem",
"position": 4,
"name": "Chromatographie",
"item": "https://questionsmedicales.fr/mesh/D002845"
},
{
"@type": "ListItem",
"position": 5,
"name": "Chromatographie en phase liquide",
"item": "https://questionsmedicales.fr/mesh/D002853"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Chromatographie en phase liquide - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Chromatographie en phase liquide",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-11",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Chromatographie en phase liquide",
"description": "Comment la chromatographie en phase liquide est-elle utilisée en diagnostic ?\nQuels types d'échantillons peuvent être analysés ?\nQuels sont les avantages de cette méthode pour le diagnostic ?\nPeut-on utiliser cette technique pour des médicaments ?\nLa chromatographie en phase liquide peut-elle détecter des toxines ?",
"url": "https://questionsmedicales.fr/mesh/D002853?mesh_terms=Gain+of+Function+Mutation&page=2#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Chromatographie en phase liquide",
"description": "Quels symptômes peuvent indiquer un besoin d'analyse par chromatographie ?\nLa chromatographie peut-elle aider à diagnostiquer des allergies ?\nQuels symptômes sont liés à des déséquilibres hormonaux ?\nPeut-on détecter des maladies métaboliques avec cette technique ?\nQuels symptômes peuvent indiquer une intoxication médicamenteuse ?",
"url": "https://questionsmedicales.fr/mesh/D002853?mesh_terms=Gain+of+Function+Mutation&page=2#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Chromatographie en phase liquide",
"description": "Comment la chromatographie contribue-t-elle à la prévention des maladies ?\nPeut-on utiliser cette technique pour le dépistage précoce ?\nQuels programmes de santé publique utilisent la chromatographie ?\nLa chromatographie peut-elle aider à prévenir les intoxications ?\nComment cette technique aide-t-elle à la recherche en santé publique ?",
"url": "https://questionsmedicales.fr/mesh/D002853?mesh_terms=Gain+of+Function+Mutation&page=2#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Chromatographie en phase liquide",
"description": "La chromatographie en phase liquide est-elle utilisée dans le traitement ?\nComment cette technique aide-t-elle à ajuster les traitements ?\nPeut-on utiliser la chromatographie pour évaluer l'efficacité d'un traitement ?\nQuels traitements peuvent être surveillés par cette méthode ?\nLa chromatographie peut-elle aider à détecter des effets secondaires ?",
"url": "https://questionsmedicales.fr/mesh/D002853?mesh_terms=Gain+of+Function+Mutation&page=2#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Chromatographie en phase liquide",
"description": "Quelles complications peuvent survenir lors de l'utilisation de cette technique ?\nLa chromatographie peut-elle causer des effets indésirables ?\nQuels risques sont associés à l'échantillonnage ?\nComment minimiser les complications lors de l'analyse ?\nLes résultats erronés peuvent-ils entraîner des complications cliniques ?",
"url": "https://questionsmedicales.fr/mesh/D002853?mesh_terms=Gain+of+Function+Mutation&page=2#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Chromatographie en phase liquide",
"description": "Quels facteurs de risque influencent l'analyse par chromatographie ?\nL'âge peut-il être un facteur de risque pour certaines analyses ?\nLes habitudes alimentaires affectent-elles les résultats ?\nLe mode de vie peut-il impacter les résultats d'analyse ?\nLes médicaments pris peuvent-ils influencer les résultats ?",
"url": "https://questionsmedicales.fr/mesh/D002853?mesh_terms=Gain+of+Function+Mutation&page=2#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment la chromatographie en phase liquide est-elle utilisée en diagnostic ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle permet d'analyser des échantillons biologiques pour détecter des substances spécifiques."
}
},
{
"@type": "Question",
"name": "Quels types d'échantillons peuvent être analysés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des échantillons de sang, d'urine, de tissus et d'autres fluides biologiques."
}
},
{
"@type": "Question",
"name": "Quels sont les avantages de cette méthode pour le diagnostic ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle offre une haute résolution et une grande sensibilité pour détecter des analytes."
}
},
{
"@type": "Question",
"name": "Peut-on utiliser cette technique pour des médicaments ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle est couramment utilisée pour analyser des médicaments dans le plasma."
}
},
{
"@type": "Question",
"name": "La chromatographie en phase liquide peut-elle détecter des toxines ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle est efficace pour identifier des toxines dans divers échantillons."
}
},
{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer un besoin d'analyse par chromatographie ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes inexpliqués, intoxications ou réactions indésirables aux médicaments."
}
},
{
"@type": "Question",
"name": "La chromatographie peut-elle aider à diagnostiquer des allergies ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle peut identifier des allergènes dans des échantillons biologiques."
}
},
{
"@type": "Question",
"name": "Quels symptômes sont liés à des déséquilibres hormonaux ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Fatigue, changements de poids, et irrégularités menstruelles peuvent être des indicateurs."
}
},
{
"@type": "Question",
"name": "Peut-on détecter des maladies métaboliques avec cette technique ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle permet d'analyser des métabolites pour diagnostiquer des maladies métaboliques."
}
},
{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer une intoxication médicamenteuse ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Nausées, vomissements, confusion et troubles respiratoires peuvent survenir."
}
},
{
"@type": "Question",
"name": "Comment la chromatographie contribue-t-elle à la prévention des maladies ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle permet de détecter précocement des biomarqueurs de maladies, facilitant l'intervention."
}
},
{
"@type": "Question",
"name": "Peut-on utiliser cette technique pour le dépistage précoce ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle est utilisée pour le dépistage de maladies comme le diabète et le cancer."
}
},
{
"@type": "Question",
"name": "Quels programmes de santé publique utilisent la chromatographie ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des programmes de dépistage des drogues et de surveillance des maladies infectieuses."
}
},
{
"@type": "Question",
"name": "La chromatographie peut-elle aider à prévenir les intoxications ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle permet d'analyser des aliments et des médicaments pour détecter des contaminants."
}
},
{
"@type": "Question",
"name": "Comment cette technique aide-t-elle à la recherche en santé publique ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle permet d'analyser des échantillons pour étudier l'épidémiologie des maladies."
}
},
{
"@type": "Question",
"name": "La chromatographie en phase liquide est-elle utilisée dans le traitement ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Indirectement, elle aide à surveiller les niveaux de médicaments dans le sang."
}
},
{
"@type": "Question",
"name": "Comment cette technique aide-t-elle à ajuster les traitements ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle permet de mesurer la concentration des médicaments pour optimiser les doses."
}
},
{
"@type": "Question",
"name": "Peut-on utiliser la chromatographie pour évaluer l'efficacité d'un traitement ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle permet de quantifier les biomarqueurs et les médicaments dans le corps."
}
},
{
"@type": "Question",
"name": "Quels traitements peuvent être surveillés par cette méthode ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements pour le cancer, les maladies infectieuses et les troubles psychiatriques."
}
},
{
"@type": "Question",
"name": "La chromatographie peut-elle aider à détecter des effets secondaires ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle peut identifier des métabolites associés à des effets indésirables."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir lors de l'utilisation de cette technique ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des erreurs d'analyse peuvent mener à des diagnostics erronés ou à des traitements inappropriés."
}
},
{
"@type": "Question",
"name": "La chromatographie peut-elle causer des effets indésirables ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, elle est une méthode analytique et ne cause pas d'effets indésirables directs."
}
},
{
"@type": "Question",
"name": "Quels risques sont associés à l'échantillonnage ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des risques d'infection ou de complications liées à la collecte d'échantillons biologiques."
}
},
{
"@type": "Question",
"name": "Comment minimiser les complications lors de l'analyse ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "En suivant des protocoles stricts de manipulation et d'analyse des échantillons."
}
},
{
"@type": "Question",
"name": "Les résultats erronés peuvent-ils entraîner des complications cliniques ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des résultats incorrects peuvent mener à des traitements inappropriés et à des complications."
}
},
{
"@type": "Question",
"name": "Quels facteurs de risque influencent l'analyse par chromatographie ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "La qualité des échantillons, la technique utilisée et l'expérience de l'opérateur."
}
},
{
"@type": "Question",
"name": "L'âge peut-il être un facteur de risque pour certaines analyses ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines maladies sont plus fréquentes chez les personnes âgées, influençant les résultats."
}
},
{
"@type": "Question",
"name": "Les habitudes alimentaires affectent-elles les résultats ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'alimentation peut influencer les niveaux de métabolites détectés dans les échantillons."
}
},
{
"@type": "Question",
"name": "Le mode de vie peut-il impacter les résultats d'analyse ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le tabagisme, l'alcool et d'autres facteurs de mode de vie peuvent affecter les résultats."
}
},
{
"@type": "Question",
"name": "Les médicaments pris peuvent-ils influencer les résultats ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains médicaments peuvent interférer avec les analyses et fausser les résultats."
}
}
]
}
]
}
Inborn errors of immunity have been implicated in causing immune dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses....
This study sought to characterize a novel gain-of-function STAT6 mutation identified in a child with severe allergic manifestations....
Whole-exome and targeted gene sequencing, lymphocyte characterization, and molecular and functional analyses of mutated STAT6 were performed....
This study reports a child with a missense mutation in the DNA binding domain of STAT6 (c.1114G>A, p.E372K) who presented with severe atopic dermatitis, eosinophilia, and elevated IgE. Naive lymphocyt...
This study identified a novel inborn error of immunity due to a STAT6 gain-of-function mutation that gave rise to severe allergic dysregulation. Janus kinase inhibitor therapy could represent an effec...
Ras-related C3 botulinum toxin substrate 2 (RAC2) is a GTPase exclusively expressed in hematopoietic cells that acts as a pivotal regulator of several aspects of cell behavior via various cellular pro...
Most known pathogenic mutations occur in protein-coding regions of DNA and change the way proteins are made. Taking protein structure into account has therefore provided great insight into the molecul...
The congenital short QT syndrome (SQTS) is a rare condition characterized by abbreviated rate-corrected QT (QTc) intervals on the electrocardiogram and by increased susceptibility to both atrial and v...
Throughout their lifetime, hematopoietic stem and progenitor cells (HSPCs) acquire somatic mutations. Some of these mutations alter HSPC functional properties such as proliferation and differentiation...
STAT1 is a transduction and transcriptional regulator that functions within the classical JAK/STAT pathway. In addition to chronic mucocutaneous candidiasis, bacterial infections are a common occurren...
Eleven patients (harboring nine different STAT1-GOF mutations) were enrolled. Reporter assays and immunoblot analyses were performed to confirm STAT1 mutations. Flow cytometry, deep sequencing, ELISA,...
All patients exhibited increased levels of phospho-STAT1 and total STAT1 protein, with two patients carrying novel mutations. In vitro assays showed that these two novel mutations were GOF mutations. ...
STAT1-GOF mutations disrupt B cell compartments and skew IGH characteristics, resulting in impaired affinity and antigen-specificity of antibodies and recurrent bacterial infections. Regular IVIG ther...
Dominant gain-of-function mechanisms in Huntington's disease (HD) suggest that selective silencing of mutant HTT produces robust therapeutic benefits. Here, capitalizing on exonic protospacer adjacent...
Autosomal dominant hypocalcemia (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of parathyroid hormone. The disease is caused by a heterozygous...
Autosomal dominant polycystic kidney disease is caused by mutations in PKD1 or PKD2 genes. The latter encodes polycystin-2 (PC2, also known as TRPP2), a member of the transient receptor potential ion ...
Gain-of-function (GOF) mutations in...