Titre : Vitamin K epoxide reductases

Vitamin K epoxide reductases : Questions médicales fréquentes

Termes MeSH sélectionnés :

Gain of Function Mutation
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epoxide reductases", "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 Vitamin K epoxide reductases", "description": "Comment diagnostiquer une carence en vitamine K ?\nQuels tests sont utilisés pour évaluer l'activité des réductases ?\nQuels symptômes indiquent un dysfonctionnement des réductases ?\nComment les médicaments affectent-ils le diagnostic ?\nQuel rôle joue l'alimentation dans le diagnostic ?", "url": "https://questionsmedicales.fr/mesh/D064417?mesh_terms=Gain+of+Function+Mutation&page=3#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Vitamin K epoxide reductases", "description": "Quels sont les symptômes d'une carence en vitamine K ?\nComment se manifestent les troubles de coagulation ?\nLes douleurs articulaires sont-elles liées aux réductases ?\nQuels signes cutanés peuvent apparaître ?\nLes saignements menstruels peuvent-ils être affectés ?", "url": "https://questionsmedicales.fr/mesh/D064417?mesh_terms=Gain+of+Function+Mutation&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Vitamin K epoxide reductases", "description": "Comment prévenir une carence en vitamine K ?\nLes suppléments sont-ils recommandés ?\nQuels aliments sont riches en vitamine K ?\nLes personnes âgées ont-elles besoin de plus de vitamine K ?\nComment éviter les interactions médicamenteuses ?", "url": "https://questionsmedicales.fr/mesh/D064417?mesh_terms=Gain+of+Function+Mutation&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Vitamin K epoxide reductases", "description": "Comment traiter une carence en vitamine K ?\nQuels médicaments peuvent interférer avec les réductases ?\nY a-t-il des traitements alternatifs ?\nComment surveiller l'efficacité du traitement ?\nLes transfusions sanguines sont-elles nécessaires ?", "url": "https://questionsmedicales.fr/mesh/D064417?mesh_terms=Gain+of+Function+Mutation&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Vitamin K epoxide reductases", "description": "Quelles complications peuvent survenir en cas de carence ?\nLes complications sont-elles réversibles ?\nQuels risques sont associés à un surdosage de vitamine K ?\nLes complications affectent-elles la grossesse ?\nComment les maladies hépatiques influencent-elles les complications ?", "url": "https://questionsmedicales.fr/mesh/D064417?mesh_terms=Gain+of+Function+Mutation&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Vitamin K epoxide reductases", "description": "Quels sont les facteurs de risque de carence en vitamine K ?\nLes nouveau-nés sont-ils à risque ?\nLes personnes sous anticoagulants sont-elles à risque ?\nLes maladies intestinales augmentent-elles le risque ?\nLes personnes âgées sont-elles plus vulnérables ?", "url": "https://questionsmedicales.fr/mesh/D064417?mesh_terms=Gain+of+Function+Mutation&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une carence en vitamine K ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Un dosage des niveaux de prothrombine et de vitamine K dans le sang peut indiquer une carence." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour évaluer l'activité des réductases ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests de coagulation comme le temps de prothrombine (TP) sont utilisés pour évaluer l'activité." } }, { "@type": "Question", "name": "Quels symptômes indiquent un dysfonctionnement des réductases ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Des saignements excessifs ou des ecchymoses fréquentes peuvent indiquer un dysfonctionnement." } }, { "@type": "Question", "name": "Comment les médicaments affectent-ils le diagnostic ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Certains anticoagulants, comme la warfarine, peuvent fausser les résultats des tests de coagulation." } }, { "@type": "Question", "name": "Quel rôle joue l'alimentation dans le diagnostic ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Une alimentation pauvre en vitamine K peut contribuer à des résultats anormaux lors des tests." } }, { "@type": "Question", "name": "Quels sont les symptômes d'une carence en vitamine K ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des saignements, des ecchymoses, et des saignements des gencives." } }, { "@type": "Question", "name": "Comment se manifestent les troubles de coagulation ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Ils se manifestent par des saignements prolongés après une blessure ou des hémorragies internes." } }, { "@type": "Question", "name": "Les douleurs articulaires sont-elles liées aux réductases ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Des douleurs articulaires peuvent survenir en raison de saignements internes dans les articulations." } }, { "@type": "Question", "name": "Quels signes cutanés peuvent apparaître ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Des ecchymoses et des éruptions cutanées peuvent apparaître en cas de carence en vitamine K." } }, { "@type": "Question", "name": "Les saignements menstruels peuvent-ils être affectés ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des saignements menstruels plus abondants peuvent être un signe de carence en vitamine K." } }, { "@type": "Question", "name": "Comment prévenir une carence en vitamine K ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Une alimentation équilibrée riche en légumes à feuilles vertes aide à prévenir la carence." } }, { "@type": "Question", "name": "Les suppléments sont-ils recommandés ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Des suppléments peuvent être recommandés pour les personnes à risque, comme les nouveau-nés." } }, { "@type": "Question", "name": "Quels aliments sont riches en vitamine K ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Les légumes à feuilles vertes, le brocoli et les huiles végétales sont riches en vitamine K." } }, { "@type": "Question", "name": "Les personnes âgées ont-elles besoin de plus de vitamine K ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les personnes âgées peuvent nécessiter un apport accru en raison de l'absorption réduite." } }, { "@type": "Question", "name": "Comment éviter les interactions médicamenteuses ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Il est important de consulter un médecin avant de prendre des suppléments ou des médicaments." } }, { "@type": "Question", "name": "Comment traiter une carence en vitamine K ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement inclut des suppléments de vitamine K par voie orale ou intraveineuse." } }, { "@type": "Question", "name": "Quels médicaments peuvent interférer avec les réductases ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Les anticoagulants comme la warfarine peuvent inhiber l'activité des réductases." } }, { "@type": "Question", "name": "Y a-t-il des traitements alternatifs ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des modifications alimentaires pour augmenter l'apport en vitamine K peuvent être bénéfiques." } }, { "@type": "Question", "name": "Comment surveiller l'efficacité du traitement ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Des tests de coagulation réguliers permettent de surveiller l'efficacité du traitement." } }, { "@type": "Question", "name": "Les transfusions sanguines sont-elles nécessaires ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Dans les cas graves, des transfusions de plasma peuvent être nécessaires pour traiter les saignements." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir en cas de carence ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des complications incluent des hémorragies graves et des troubles de la coagulation." } }, { "@type": "Question", "name": "Les complications sont-elles réversibles ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, avec un traitement approprié, la plupart des complications peuvent être réversibles." } }, { "@type": "Question", "name": "Quels risques sont associés à un surdosage de vitamine K ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Un surdosage peut entraîner des problèmes de coagulation et des réactions allergiques." } }, { "@type": "Question", "name": "Les complications affectent-elles la grossesse ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une carence en vitamine K peut augmenter le risque de complications pendant la grossesse." } }, { "@type": "Question", "name": "Comment les maladies hépatiques influencent-elles les complications ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Les maladies hépatiques peuvent altérer le métabolisme de la vitamine K, augmentant les risques de complications." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque de carence en vitamine K ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent une alimentation déséquilibrée, des troubles d'absorption et certains médicaments." } }, { "@type": "Question", "name": "Les nouveau-nés sont-ils à risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les nouveau-nés ont un risque accru de carence en raison de réserves limitées de vitamine K." } }, { "@type": "Question", "name": "Les personnes sous anticoagulants sont-elles à risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les personnes sous anticoagulants comme la warfarine doivent surveiller leur apport en vitamine K." } }, { "@type": "Question", "name": "Les maladies intestinales augmentent-elles le risque ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les maladies comme la maladie cœliaque peuvent affecter l'absorption de la vitamine K." } }, { "@type": "Question", "name": "Les personnes âgées sont-elles plus vulnérables ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'absorption de la vitamine K peut diminuer avec l'âge, augmentant le risque de carence." } } ] } ] }

Sources (10000 au total)

Clinical azole cross-resistance in Candida parapsilosis is related to a novel MRR1 gain-of-function mutation.

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...

Immunophenotyping and Therapeutic Insights from Chronic Mucocutaneous Candidiasis Cases with STAT1 Gain-of-Function Mutations.

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 ...

Chinese Pedigree of Chronic Mucocutaneous Candidiasis Due to STAT1 Gain-of-Function Mutation: A Case Study and Literature Review.

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...

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

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...

Gain-of-function p.F28S variant in

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....

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.

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...

EZH2 W113C is a gain-of-function mutation in B-cell lymphoma enabling both PRC2 methyltransferase activation and tazemetostat resistance.

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 ...