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Acides aminés, peptides et protéines
Protéines
Protéines membranaires
Récepteurs de surface cellulaire
Récepteurs immunologiques
Intégrines
Intégrines : Questions médicales fréquentes
Termes MeSH sélectionnés :
Gain of Function Mutation
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"name": "Les troubles de la coagulation sont-ils liés aux intégrines ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies des intégrines peuvent provoquer des troubles de la coagulation sanguine."
}
},
{
"@type": "Question",
"name": "Comment les intégrines affectent-elles la cicatrisation ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les intégrines sont essentielles pour la migration cellulaire et la formation de nouveaux tissus lors de la cicatrisation."
}
},
{
"@type": "Question",
"name": "Les douleurs articulaires peuvent-elles être liées aux intégrines ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des dysfonctionnements des intégrines peuvent contribuer à des douleurs articulaires et à l'arthrite."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes cutanés associés aux intégrines ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des anomalies des intégrines peuvent entraîner des maladies cutanées comme l'épidermolyse bulleuse."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les troubles liés aux intégrines ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée et un mode de vie sain peuvent aider à prévenir certains troubles liés aux intégrines."
}
},
{
"@type": "Question",
"name": "Les vaccinations influencent-elles les intégrines ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines vaccinations peuvent moduler l'expression des intégrines, influençant la réponse immunitaire."
}
},
{
"@type": "Question",
"name": "L'exercice physique affecte-t-il les intégrines ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exercice régulier peut améliorer la fonction des intégrines et la santé cellulaire."
}
},
{
"@type": "Question",
"name": "Le stress a-t-il un impact sur les intégrines ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le stress chronique peut altérer l'expression des intégrines, affectant la santé immunitaire."
}
},
{
"@type": "Question",
"name": "Les habitudes alimentaires influencent-elles les intégrines ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation riche en antioxydants peut soutenir la fonction des intégrines et la santé cellulaire."
}
},
{
"@type": "Question",
"name": "Quels traitements ciblent les intégrines ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies biologiques, comme les inhibiteurs d'intégrines, sont utilisées pour traiter certaines maladies auto-immunes."
}
},
{
"@type": "Question",
"name": "Les médicaments anti-inflammatoires aident-ils les intégrines ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les anti-inflammatoires peuvent réduire l'inflammation liée aux dysfonctionnements des intégrines."
}
},
{
"@type": "Question",
"name": "La thérapie génique peut-elle corriger les anomalies des intégrines ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est une approche prometteuse pour corriger certaines anomalies des intégrines."
}
},
{
"@type": "Question",
"name": "Les greffes d'organes sont-elles affectées par les intégrines ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les intégrines jouent un rôle clé dans l'acceptation ou le rejet des greffes d'organes."
}
},
{
"@type": "Question",
"name": "Comment les intégrines sont-elles ciblées dans le cancer ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des traitements ciblant les intégrines peuvent inhiber la métastase et la progression tumorale."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec des anomalies des intégrines ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications incluent des infections récurrentes, des troubles de la coagulation et des maladies auto-immunes."
}
},
{
"@type": "Question",
"name": "Les anomalies des intégrines peuvent-elles causer des cancers ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies dans l'expression des intégrines sont associées à une augmentation du risque de cancer."
}
},
{
"@type": "Question",
"name": "Comment les intégrines affectent-elles la santé cardiovasculaire ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des dysfonctionnements des intégrines peuvent contribuer à des maladies cardiovasculaires et à l'athérosclérose."
}
},
{
"@type": "Question",
"name": "Les complications cutanées sont-elles fréquentes avec les intégrines ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies des intégrines peuvent entraîner des maladies cutanées graves comme l'épidermolyse."
}
},
{
"@type": "Question",
"name": "Les troubles neurologiques peuvent-ils être liés aux intégrines ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines études suggèrent un lien entre les anomalies des intégrines et des troubles neurologiques."
}
},
{
"@type": "Question",
"name": "Quels facteurs augmentent le risque de troubles des intégrines ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs génétiques, des infections chroniques et des maladies auto-immunes augmentent le risque."
}
},
{
"@type": "Question",
"name": "L'âge influence-t-il la fonction des intégrines ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le vieillissement peut altérer l'expression et la fonction des intégrines dans le corps."
}
},
{
"@type": "Question",
"name": "Le tabagisme affecte-t-il les intégrines ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le tabagisme peut perturber l'expression des intégrines et affecter la santé cellulaire."
}
},
{
"@type": "Question",
"name": "Le diabète influence-t-il les intégrines ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le diabète peut altérer la fonction des intégrines, augmentant le risque de complications."
}
},
{
"@type": "Question",
"name": "Le stress oxydatif affecte-t-il les intégrines ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le stress oxydatif peut endommager les intégrines et perturber leur fonction normale."
}
}
]
}
]
}
Hereby, we describe the molecular mechanisms underlying the acquisition of azole resistance by a Candida parapsilosis isolate following fluconazole treatment due to candiduria....
A set of three consecutive C. parapsilosis isolates were recovered from the urine samples of a patient with candiduria. Whole-genome sequencing and antifungal susceptibility assays were performed. The...
The initial isolate CPS-A was susceptible to all three azoles tested (fluconazole, voriconazole and posaconazole); isolate CPS-B, collected after the second cycle of treatment, exhibited a susceptible...
Our results describe clinical azole cross-resistance acquisition in C. parapsilosis due to a G1810A (G604R) gain-of-function mutation, resulting in MRR1 hyperactivation and consequently, MDR1 efflux p...
Heterozygous STAT1 Gain-of-Function (GOF) mutations are the most common cause of chronic mucocutaneous candidiasis (CMC) among Inborn Errors of Immunity. Clinically, these mutations manifest as a broa...
We analyzed clinical presentations, cellular phenotypes, and functional impacts in five Taiwanese patients with STAT1 GOF....
We identified two novel GOF mutations in 5 patients from 2 Taiwanese families, presenting with symptoms of CMC, late-onset rosacea, and autoimmunity. The enhanced phosphorylation and delayed dephospho...
Our study provides the first comprehensive clinical and molecular characteristics in STAT1 GOF patient in Taiwan and highlights the dysregulated T and B cells subsets which may hinge the autoimmunity ...
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome associated with Ca...
Haemoglobin H (Hb H) disease (intermediate status of α-thalassemia) shows marked phenotypic variability from asymptomatic to severe anaemia. Apart from the combined β-thalassemia allele ameliorating c...
To further elucidate the clinical, immunological and genetic features of chronic mucocutaneous candidiasis (CMC) due to STAT1 GOF mutation in the Chinese population....
Clinical data for a proband were collected, and pedigree analyses were performed. Whole-exome sequencing and targeted Sanger sequencing were conducted to explore genetic factors of a Chinese pedigree ...
An autosomal dominant CMC pedigree was identified, and both the proband and his father had mucocutaneous Candida infections without involvement of other systems. A rare mutation (c.T1175C) in STAT1 wa...
STAT1 GOF mutation at c.T1175C (p.M392T) may lead to mucocutaneous Candida infections and an increase in serum IFN-α. T385M in the DNA-binding domain is the most common STAT1 GOF mutation found in the...
Although the molecular features of pancreatic ductal adenocarcinoma (PDAC) have been well described, the impact of detailed gene mutation subtypes on disease progression remained unclear. This study a...
We included 639 patients treated with PDAC in Ruijin Hospital affiliated to Shanghai Jiaotong University School of Medicine between Jan 2019 and Jun 2021. The genomic alterations of PDAC were analyzed...
TP53 missense mutation was significantly associated with poor differentiation in KRAS...
TP53 missense mutation was associated with poor tumor differentiation, and revealed gain-of-function properties in small-sized KRAS transformed PDAC. Nonetheless, it was not associated with insensitiv...
We investigated an early adolescent female with intellectual disability, drug-responsive epilepsy and white matter abnormalities. Through exome sequencing, we identified the novel de novo variant (NM_...
In vitro analyses revealed that the p.F28S variant was spontaneously activated by substantially increased intrinsic GTP/GDP-exchange activity and bound to downstream effectors tested, such as PAK1 and...
Our results indicate that RAC3 is critical for brain development and the p.F28S variant causes morphological and functional defects in cortical neurons, likely due to the hyperactivation of PAK1....
Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence i...
Hereby, we report on a four-generation Italian family with DA5. Our first proband was a newborn with prenatal suspicion of AMC. At birth, clinical findings were compatible with a DA diagnosis. Family ...
Our patients contribute to the current DA5 genomic database, and to a better characterization of the disease. Clinicians may have suspicion of a DA diagnosis based on suggestive (also prenatal) clinic...
Polycomb repressive complex 2 (PRC2) suppresses gene transcription by methylating lysine 27 of histone H3 (H3K27) and plays critical roles in embryonic development. Among the core PRC2 subunits, EZH2 ...
Inherited autosomal dominant gain-of-function (GOF) mutations of signal transducer and activator of transcription 1 (STAT1) cause a wide range of symptoms affecting multiple systems, including chronic...