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Acides aminés, peptides et protéines
Protéines
Protéines de tissu nerveux
Protéines associées aux microtubules
Kinésine
Kinésine : Questions médicales fréquentes
Termes MeSH sélectionnés :
DNA Copy Number Variations
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"description": "Comment diagnostiquer une dysfonction des kinésines ?\nQuels examens sont utilisés pour évaluer les kinésines ?\nLes tests sanguins peuvent-ils détecter des anomalies kinésines ?\nQuels symptômes indiquent un problème avec les kinésines ?\nLes biopsies musculaires sont-elles utiles pour les kinésines ?",
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"@type": "Question",
"name": "Comment diagnostiquer une dysfonction des kinésines ?",
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"text": "Des tests génétiques et des analyses de protéines peuvent aider à diagnostiquer."
}
},
{
"@type": "Question",
"name": "Quels examens sont utilisés pour évaluer les kinésines ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'électrophorèse des protéines et la microscopie électronique sont couramment utilisés."
}
},
{
"@type": "Question",
"name": "Les tests sanguins peuvent-ils détecter des anomalies kinésines ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des tests sanguins peuvent révéler des niveaux anormaux de protéines motrices."
}
},
{
"@type": "Question",
"name": "Quels symptômes indiquent un problème avec les kinésines ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des troubles neurologiques ou musculaires peuvent signaler une dysfonction des kinésines."
}
},
{
"@type": "Question",
"name": "Les biopsies musculaires sont-elles utiles pour les kinésines ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles peuvent montrer des anomalies dans les protéines motrices au niveau cellulaire."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en kinésines ?",
"position": 6,
"acceptedAnswer": {
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"text": "Faiblesse musculaire, troubles de la coordination et problèmes neurologiques."
}
},
{
"@type": "Question",
"name": "Les douleurs musculaires sont-elles liées aux kinésines ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des douleurs peuvent survenir en raison d'une mauvaise fonction des kinésines."
}
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{
"@type": "Question",
"name": "Comment les kinésines affectent-elles le système nerveux ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles sont essentielles pour le transport des neurotransmetteurs et la signalisation."
}
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{
"@type": "Question",
"name": "Les troubles de la vision peuvent-ils être liés aux kinésines ?",
"position": 9,
"acceptedAnswer": {
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"text": "Oui, des anomalies kinésines peuvent affecter les cellules nerveuses de la rétine."
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"@type": "Question",
"name": "Y a-t-il des symptômes cognitifs associés aux kinésines ?",
"position": 10,
"acceptedAnswer": {
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"text": "Des troubles cognitifs peuvent survenir en raison de dysfonctionnements neuronaux."
}
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{
"@type": "Question",
"name": "Peut-on prévenir les troubles liés aux kinésines ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée et un mode de vie sain peuvent aider à prévenir certains troubles."
}
},
{
"@type": "Question",
"name": "L'exercice régulier aide-t-il à la santé des kinésines ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exercice régulier favorise la santé musculaire et neuronale."
}
},
{
"@type": "Question",
"name": "Les examens médicaux réguliers sont-ils importants ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils permettent de détecter précocement des anomalies kinésines."
}
},
{
"@type": "Question",
"name": "Y a-t-il des vaccins pour prévenir les troubles kinésines ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de vaccins spécifiques pour les troubles kinésines."
}
},
{
"@type": "Question",
"name": "Le stress peut-il affecter les kinésines ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le stress chronique peut nuire à la fonction cellulaire et aux kinésines."
}
},
{
"@type": "Question",
"name": "Quels traitements existent pour les troubles kinésines ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique et les médicaments ciblés sont des options de traitement."
}
},
{
"@type": "Question",
"name": "La physiothérapie aide-t-elle en cas de dysfonction kinésines ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie peut améliorer la force et la coordination musculaire."
}
},
{
"@type": "Question",
"name": "Des suppléments nutritionnels peuvent-ils aider ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains suppléments, comme les acides gras oméga-3, peuvent soutenir la fonction cellulaire."
}
},
{
"@type": "Question",
"name": "Les médicaments anti-inflammatoires sont-ils utiles ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent réduire l'inflammation et améliorer la fonction musculaire."
}
},
{
"@type": "Question",
"name": "La recherche sur les kinésines progresse-t-elle ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des études sont en cours pour développer de nouveaux traitements ciblés."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec des troubles kinésines ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications neurologiques, musculaires et métaboliques peuvent se développer."
}
},
{
"@type": "Question",
"name": "Les troubles kinésines peuvent-ils entraîner des maladies graves ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent contribuer à des maladies neurodégénératives comme la maladie d'Alzheimer."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de paralysie avec des troubles kinésines ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles graves peuvent entraîner une paralysie ou une perte de mobilité."
}
},
{
"@type": "Question",
"name": "Les troubles kinésines peuvent-ils affecter la respiration ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des complications peuvent affecter les muscles respiratoires et la fonction pulmonaire."
}
},
{
"@type": "Question",
"name": "Des troubles kinésines peuvent-ils causer des problèmes cardiaques ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des dysfonctionnements peuvent affecter le cœur et la circulation sanguine."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les troubles kinésines ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs génétiques, l'âge avancé et les maladies métaboliques augmentent le risque."
}
},
{
"@type": "Question",
"name": "Le mode de vie influence-t-il les troubles kinésines ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un mode de vie sédentaire et une mauvaise alimentation peuvent aggraver les troubles."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de troubles neurologiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "Le stress est-il un facteur de risque pour les kinésines ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le stress chronique peut affecter la fonction des kinésines et la santé cellulaire."
}
},
{
"@type": "Question",
"name": "L'exposition à des toxines influence-t-elle les kinésines ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à certaines toxines peut nuire à la fonction des kinésines."
}
}
]
}
]
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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 ...
Posttraumatic stress disorder (PTSD) is a heritable (h...
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...
In the last decade, new tumor entities have been described, including...
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,...