{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "Protéines intrinsèquement désordonnées : Questions médicales les plus fréquentes",
"headline": "Protéines intrinsèquement désordonnées : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les Protéines intrinsèquement désordonnées : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-03-31",
"dateModified": "2025-03-26",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "Protéines intrinsèquement désordonnées"
},
"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": "Protéines",
"url": "https://questionsmedicales.fr/mesh/D011506",
"about": {
"@type": "MedicalCondition",
"name": "Protéines",
"code": {
"@type": "MedicalCode",
"code": "D011506",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D12.776"
}
}
},
"about": {
"@type": "MedicalCondition",
"name": "Protéines intrinsèquement désordonnées",
"alternateName": "Intrinsically Disordered Proteins",
"code": {
"@type": "MedicalCode",
"code": "D064267",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Vladimir N Uversky",
"url": "https://questionsmedicales.fr/author/Vladimir%20N%20Uversky",
"affiliation": {
"@type": "Organization",
"name": "USF Health Byrd Alzheimer's Research Institute, Morsani College of Medicine, University of South Florida, Tampa, FL USA."
}
},
{
"@type": "Person",
"name": "Damiano Piovesan",
"url": "https://questionsmedicales.fr/author/Damiano%20Piovesan",
"affiliation": {
"@type": "Organization",
"name": "Department of Biomedical Sciences, University of Padova, Padova, Italy."
}
},
{
"@type": "Person",
"name": "Silvio C E Tosatto",
"url": "https://questionsmedicales.fr/author/Silvio%20C%20E%20Tosatto",
"affiliation": {
"@type": "Organization",
"name": "Department of Biomedical Sciences, University of Padova, Padova, Italy."
}
},
{
"@type": "Person",
"name": "Lukasz Kurgan",
"url": "https://questionsmedicales.fr/author/Lukasz%20Kurgan",
"affiliation": {
"@type": "Organization",
"name": "Department of Computer Science, Virginia Commonwealth University, Richmond, VA 23284, USA."
}
},
{
"@type": "Person",
"name": "Alexander Miguel Monzon",
"url": "https://questionsmedicales.fr/author/Alexander%20Miguel%20Monzon",
"affiliation": {
"@type": "Organization",
"name": "Department of Biomedical Sciences, University of Padova, Padova, Italy."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Mapping recurrent mosaic copy number variation in human neurons.",
"datePublished": "2024-05-17",
"url": "https://questionsmedicales.fr/article/38760338",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1038/s41467-024-48392-0"
}
},
{
"@type": "ScholarlyArticle",
"name": "A pan-cancer landscape of pathogenic somatic copy number variations.",
"datePublished": "2023-10-18",
"url": "https://questionsmedicales.fr/article/37858853",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.jbi.2023.104529"
}
},
{
"@type": "ScholarlyArticle",
"name": "Copy number variations in SPAST and ATL1 are rare among Brazilians.",
"datePublished": "2023-01-15",
"url": "https://questionsmedicales.fr/article/36537231",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1111/cge.14280"
}
},
{
"@type": "ScholarlyArticle",
"name": "Copy number variation alters local and global mutational tolerance.",
"datePublished": "2023-08-31",
"url": "https://questionsmedicales.fr/article/37652668",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1101/gr.277625.122"
}
},
{
"@type": "ScholarlyArticle",
"name": "Contribution of copy number variations to the risk of severe eating disorders.",
"datePublished": "2022-06-20",
"url": "https://questionsmedicales.fr/article/35611833",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1111/pcn.13430"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Acides aminés, peptides et protéines",
"item": "https://questionsmedicales.fr/mesh/D000602"
},
{
"@type": "ListItem",
"position": 3,
"name": "Protéines",
"item": "https://questionsmedicales.fr/mesh/D011506"
},
{
"@type": "ListItem",
"position": 4,
"name": "Protéines intrinsèquement désordonnées",
"item": "https://questionsmedicales.fr/mesh/D064267"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : Protéines intrinsèquement désordonnées - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur Protéines intrinsèquement désordonnées",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-15",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Protéines intrinsèquement désordonnées",
"description": "Comment diagnostiquer une maladie liée aux IDP ?\nQuels tests sont utilisés pour les IDP ?\nLes IDP peuvent-elles être détectées par imagerie ?\nY a-t-il des biomarqueurs pour les IDP ?\nLes tests génétiques aident-ils pour les IDP ?",
"url": "https://questionsmedicales.fr/mesh/D064267?mesh_terms=DNA+Copy+Number+Variations&page=3#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Protéines intrinsèquement désordonnées",
"description": "Quels symptômes sont associés aux IDP ?\nLes IDP causent-elles des troubles neurologiques ?\nLes IDP sont-elles liées à des cancers ?\nPeut-on avoir des symptômes sans IDP ?\nLes IDP provoquent-elles des douleurs articulaires ?",
"url": "https://questionsmedicales.fr/mesh/D064267?mesh_terms=DNA+Copy+Number+Variations&page=3#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Protéines intrinsèquement désordonnées",
"description": "Peut-on prévenir les maladies liées aux IDP ?\nL'alimentation influence-t-elle les IDP ?\nLe stress affecte-t-il les IDP ?\nL'exercice physique aide-t-il avec les IDP ?\nLes contrôles médicaux réguliers sont-ils importants ?",
"url": "https://questionsmedicales.fr/mesh/D064267?mesh_terms=DNA+Copy+Number+Variations&page=3#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Protéines intrinsèquement désordonnées",
"description": "Comment traiter les maladies liées aux IDP ?\nY a-t-il des médicaments spécifiques pour les IDP ?\nLa thérapie génique aide-t-elle avec les IDP ?\nLes traitements naturels sont-ils efficaces pour les IDP ?\nLa physiothérapie aide-t-elle avec les IDP ?",
"url": "https://questionsmedicales.fr/mesh/D064267?mesh_terms=DNA+Copy+Number+Variations&page=3#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Protéines intrinsèquement désordonnées",
"description": "Quelles complications peuvent survenir avec les IDP ?\nLes IDP peuvent-elles entraîner des maladies chroniques ?\nY a-t-il des risques de récidive avec les IDP ?\nLes IDP peuvent-elles affecter la qualité de vie ?\nLes IDP sont-elles liées à des troubles mentaux ?",
"url": "https://questionsmedicales.fr/mesh/D064267?mesh_terms=DNA+Copy+Number+Variations&page=3#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Protéines intrinsèquement désordonnées",
"description": "Quels sont les facteurs de risque pour les IDP ?\nL'hérédité joue-t-elle un rôle dans les IDP ?\nL'exposition à des toxines influence-t-elle les IDP ?\nLe mode de vie affecte-t-il le risque d'IDP ?\nLes infections peuvent-elles être un facteur de risque ?",
"url": "https://questionsmedicales.fr/mesh/D064267?mesh_terms=DNA+Copy+Number+Variations&page=3#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostiquer une maladie liée aux IDP ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur des tests biochimiques et des analyses protéomiques."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour les IDP ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des techniques comme la spectroscopie RMN et la chromatographie sont courantes."
}
},
{
"@type": "Question",
"name": "Les IDP peuvent-elles être détectées par imagerie ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, l'imagerie ne détecte pas directement les IDP, mais peut montrer des effets cellulaires."
}
},
{
"@type": "Question",
"name": "Y a-t-il des biomarqueurs pour les IDP ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines IDP peuvent servir de biomarqueurs, mais cela reste en recherche."
}
},
{
"@type": "Question",
"name": "Les tests génétiques aident-ils pour les IDP ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests génétiques peuvent identifier des mutations, mais pas spécifiquement les IDP."
}
},
{
"@type": "Question",
"name": "Quels symptômes sont associés aux IDP ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes varient selon la maladie, incluant fatigue, douleurs et troubles neurologiques."
}
},
{
"@type": "Question",
"name": "Les IDP causent-elles des troubles neurologiques ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines IDP sont liées à des maladies neurodégénératives comme Alzheimer."
}
},
{
"@type": "Question",
"name": "Les IDP sont-elles liées à des cancers ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines IDP sont impliquées dans la régulation tumorale et peuvent favoriser le cancer."
}
},
{
"@type": "Question",
"name": "Peut-on avoir des symptômes sans IDP ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, de nombreux symptômes peuvent être causés par d'autres facteurs non liés aux IDP."
}
},
{
"@type": "Question",
"name": "Les IDP provoquent-elles des douleurs articulaires ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines maladies associées aux IDP peuvent entraîner des douleurs articulaires."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les maladies liées aux IDP ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais un mode de vie sain peut réduire les risques."
}
},
{
"@type": "Question",
"name": "L'alimentation influence-t-elle les IDP ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée peut soutenir la santé cellulaire, mais ne prévient pas directement les IDP."
}
},
{
"@type": "Question",
"name": "Le stress affecte-t-il les IDP ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le stress peut exacerber les symptômes, mais ne cause pas directement les IDP."
}
},
{
"@type": "Question",
"name": "L'exercice physique aide-t-il avec les IDP ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exercice régulier peut améliorer la santé générale et réduire certains symptômes."
}
},
{
"@type": "Question",
"name": "Les contrôles médicaux réguliers sont-ils importants ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des contrôles réguliers peuvent aider à détecter précocement des problèmes liés aux IDP."
}
},
{
"@type": "Question",
"name": "Comment traiter les maladies liées aux IDP ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement dépend de la maladie spécifique et peut inclure médicaments et thérapies."
}
},
{
"@type": "Question",
"name": "Y a-t-il des médicaments spécifiques pour les IDP ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de médicaments spécifiques, mais des traitements ciblent les symptômes."
}
},
{
"@type": "Question",
"name": "La thérapie génique aide-t-elle avec les IDP ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche pour certaines maladies liées aux IDP."
}
},
{
"@type": "Question",
"name": "Les traitements naturels sont-ils efficaces pour les IDP ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains traitements naturels peuvent soulager les symptômes, mais manquent de preuves solides."
}
},
{
"@type": "Question",
"name": "La physiothérapie aide-t-elle avec les IDP ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie peut aider à gérer les symptômes et améliorer la qualité de vie."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec les IDP ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques, des cancers et des maladies auto-immunes."
}
},
{
"@type": "Question",
"name": "Les IDP peuvent-elles entraîner des maladies chroniques ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines IDP sont associées à des maladies chroniques comme la fibromyalgie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de récidive avec les IDP ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines maladies liées aux IDP peuvent avoir des risques de récidive, selon le cas."
}
},
{
"@type": "Question",
"name": "Les IDP peuvent-elles affecter la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les IDP peuvent gravement affecter la qualité de vie en raison des symptômes chroniques."
}
},
{
"@type": "Question",
"name": "Les IDP sont-elles liées à des troubles mentaux ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines études suggèrent un lien entre IDP et troubles mentaux, mais les recherches continuent."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les IDP ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des prédispositions génétiques, l'âge et des facteurs environnementaux."
}
},
{
"@type": "Question",
"name": "L'hérédité joue-t-elle un rôle dans les IDP ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines IDP ont une composante héréditaire, augmentant le risque de maladies."
}
},
{
"@type": "Question",
"name": "L'exposition à des toxines influence-t-elle les IDP ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à certaines toxines peut augmenter le risque de maladies liées aux IDP."
}
},
{
"@type": "Question",
"name": "Le mode de vie affecte-t-il le risque d'IDP ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie malsain, comme le tabagisme, peut augmenter le risque de maladies liées aux IDP."
}
},
{
"@type": "Question",
"name": "Les infections peuvent-elles être un facteur de risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections virales sont associées à un risque accru de maladies liées aux IDP."
}
}
]
}
]
}
When somatic cells acquire complex karyotypes, they often are removed by the immune system. Mutant somatic cells that evade immune surveillance can lead to cancer. Neurons with complex karyotypes aris...
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....
Copy number variations (CNV) may represent a significant proportion of SPG4 and SPG3A diagnosis, the most frequent autosomal dominant subtypes of hereditary spastic paraplegias (HSP). We aimed to asse...
Copy number variants (CNVs), duplications and deletions of genomic sequences, contribute to evolutionary adaptation but can also confer deleterious effects and cause disease. Whereas the effects of am...
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....
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....
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 (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...
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...
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...
