[Autism spectrum disorder in adulthood].
Autism is a neurodevelopmental disorder that starts in early childhood and persists over the lifespan. A combination of genetic factors and environmental factors around birth contribute to its etiolog...
Exons VDJ : Questions médicales fréquentes
Questions fréquentes et termes MeSH associés
Diagnostic 5
#1
Comment diagnostiquer une anomalie des exons VDJ ?
Un diagnostic se fait par séquençage de l'ADN et analyse des réarrangements génétiques.
#2
Quels tests sont utilisés pour les exons VDJ ?
Les tests PCR et le séquençage sont couramment utilisés pour évaluer les exons VDJ.
#3
Les exons VDJ peuvent-ils être détectés par imagerie ?
Non, les exons VDJ nécessitent des analyses moléculaires, pas d'imagerie.
#4
Quels marqueurs indiquent des problèmes avec les exons VDJ ?
Des niveaux anormaux d'anticorps ou des réarrangements génétiques peuvent indiquer des problèmes.
#5
Les tests génétiques sont-ils fiables pour les exons VDJ ?
Oui, les tests génétiques sont très fiables pour détecter les anomalies des exons VDJ.
Symptômes 5
#1
Quels symptômes sont liés aux anomalies des exons VDJ ?
Les anomalies peuvent entraîner des infections fréquentes et des troubles immunitaires.
#2
Les symptômes varient-ils selon le type d'anomalie VDJ ?
Oui, les symptômes peuvent varier selon la nature et la gravité de l'anomalie.
#3
Les anomalies VDJ causent-elles des douleurs ?
Les anomalies VDJ ne causent généralement pas de douleurs, mais des infections peuvent en provoquer.
#4
Peut-on avoir des symptômes sans anomalie VDJ ?
Oui, d'autres troubles immunitaires peuvent provoquer des symptômes similaires sans anomalies VDJ.
#5
Les symptômes des anomalies VDJ sont-ils spécifiques ?
Non, ils ne sont pas spécifiques et peuvent ressembler à d'autres troubles immunitaires.
Prévention 5
#1
Peut-on prévenir les anomalies des exons VDJ ?
Il n'existe pas de méthode de prévention spécifique pour les anomalies des exons VDJ.
#2
Les vaccinations aident-elles à prévenir les complications ?
Oui, les vaccinations peuvent aider à prévenir les infections chez les patients à risque.
#3
Un mode de vie sain peut-il réduire les risques ?
Un mode de vie sain peut renforcer le système immunitaire, mais ne prévient pas les anomalies VDJ.
#4
Les tests génétiques peuvent-ils aider à la prévention ?
Oui, les tests génétiques peuvent identifier les risques et permettre une surveillance précoce.
#5
Les conseils génétiques sont-ils utiles pour les familles ?
Oui, les conseils génétiques peuvent aider les familles à comprendre les risques d'anomalies VDJ.
Traitements 5
#1
Quels traitements existent pour les anomalies VDJ ?
Les traitements incluent des thérapies immunosuppressives et des transfusions d'anticorps.
#2
La thérapie génique est-elle une option pour les anomalies VDJ ?
La thérapie génique est en recherche, mais pas encore une option standard pour ces anomalies.
#3
Les antibiotiques sont-ils efficaces contre les anomalies VDJ ?
Les antibiotiques ne traitent pas les anomalies VDJ, mais peuvent traiter les infections secondaires.
#4
Les traitements sont-ils personnalisés pour les anomalies VDJ ?
Oui, les traitements peuvent être personnalisés selon le type et la gravité de l'anomalie.
#5
Les patients ont-ils besoin de suivi après traitement des anomalies VDJ ?
Oui, un suivi régulier est essentiel pour surveiller les infections et l'immunité.
Complications 5
#1
Quelles complications peuvent survenir avec les anomalies VDJ ?
Les complications incluent des infections récurrentes et des troubles auto-immuns.
#2
Les anomalies VDJ augmentent-elles le risque de cancer ?
Oui, certaines anomalies VDJ peuvent augmenter le risque de développer des cancers hématologiques.
#3
Les complications sont-elles réversibles ?
Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes.
#4
Les patients doivent-ils surveiller des signes de complications ?
Oui, une surveillance régulière est cruciale pour détecter rapidement les complications.
#5
Les complications affectent-elles la qualité de vie ?
Oui, les complications peuvent significativement affecter la qualité de vie des patients.
Facteurs de risque 5
#1
Quels sont les facteurs de risque pour les anomalies VDJ ?
Les facteurs incluent des antécédents familiaux et des expositions environnementales.
#2
L'âge influence-t-il le risque d'anomalies VDJ ?
Oui, certaines anomalies VDJ sont plus fréquentes chez les jeunes enfants et les adolescents.
#3
Les infections virales augmentent-elles le risque ?
Oui, certaines infections virales peuvent augmenter le risque d'anomalies VDJ.
#4
Le sexe joue-t-il un rôle dans les anomalies VDJ ?
Oui, certaines anomalies peuvent être plus fréquentes chez un sexe que l'autre.
#5
Les facteurs environnementaux influencent-ils les anomalies VDJ ?
Oui, l'exposition à des toxines ou à des radiations peut augmenter le risque d'anomalies.
Contenu validé par Dr Olivier Menir
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 11/04/2025
Contenu vérifié selon les dernières recommandations médicales
Auteurs principaux
Feng Wang
3 publications dans cette catégorie
Affiliations :
- Department of Laboratory Medicine, Ningbo Medical Center Lihuili Hospital, Ningbo 315040, Zhejiang, China.
Publications dans "Exons VDJ" :
-
Efficient exon skipping by base-editor-mediated abrogation of exonic splicing enhancers.
Cell reports 2023-10-30
-
Skipping of exon 10 in
Theranostics 2020-04-27
-
SRSF1 promotes the inclusion of exon 3 of SRA1 and the invasion of hepatocellular carcinoma cells by interacting with exon 3 of SRA1pre-mRNA.
Cell death discovery 2021-05-19
Sai Wang
3 publications dans cette catégorie
Affiliations :
- Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
- Department of Dermatology, Peking University First Hospital, Beijing, China.
Publications dans "Exons VDJ" :
-
Six Exonic Variants in the
Frontiers in genetics 2020-11-05
-
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
Endocrine 2019-02-21
-
Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.
Human molecular genetics
Yue Han
3 publications dans cette catégorie
Affiliations :
- Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Publications dans "Exons VDJ" :
-
Six Exonic Variants in the
Frontiers in genetics 2020-11-05
-
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
Endocrine 2019-02-21
-
Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.
Human molecular genetics
Leping Shao
3 publications dans cette catégorie
Affiliations :
- Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Publications dans "Exons VDJ" :
-
Six Exonic Variants in the
Frontiers in genetics 2020-11-05
-
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
Endocrine 2019-02-21
-
Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.
Human molecular genetics
Mateusz Kaduk
2 publications dans cette catégorie
Affiliations :
- Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
Publications dans "Exons VDJ" :
-
VDJ Gene Usage in IgM Repertoires of Rhesus and Cynomolgus Macaques.
Frontiers in immunology 2022-01-11
-
Rhesus and cynomolgus macaque immunoglobulin heavy-chain genotyping yields comprehensive databases of germline VDJ alleles.
Immunity 2021-01-22
Martin Corcoran
2 publications dans cette catégorie
Affiliations :
- Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
Publications dans "Exons VDJ" :
-
VDJ Gene Usage in IgM Repertoires of Rhesus and Cynomolgus Macaques.
Frontiers in immunology 2022-01-11
-
Rhesus and cynomolgus macaque immunoglobulin heavy-chain genotyping yields comprehensive databases of germline VDJ alleles.
Immunity 2021-01-22
Gunilla B Karlsson Hedestam
2 publications dans cette catégorie
Affiliations :
- Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
Publications dans "Exons VDJ" :
-
VDJ Gene Usage in IgM Repertoires of Rhesus and Cynomolgus Macaques.
Frontiers in immunology 2022-01-11
-
Rhesus and cynomolgus macaque immunoglobulin heavy-chain genotyping yields comprehensive databases of germline VDJ alleles.
Immunity 2021-01-22
Lise L Holm
2 publications dans cette catégorie
Affiliations :
- Department of Biochemistry and Molecular Biology, University of Southern Denmark, 5230 Odense M, Denmark.
- Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark.
Publications dans "Exons VDJ" :
-
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Nucleic acids research 2024-02-07
-
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.
Human mutation 2021-12-30
Thomas K Doktor
2 publications dans cette catégorie
Affiliations :
- Department of Biochemistry and Molecular Biology, University of Southern Denmark, 5230 Odense M, Denmark.
- Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark.
Publications dans "Exons VDJ" :
-
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Nucleic acids research 2024-02-07
-
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.
Human mutation 2021-12-30
Ulrika S S Petersen
2 publications dans cette catégorie
Affiliations :
- Department of Biochemistry and Molecular Biology, University of Southern Denmark, 5230 Odense M, Denmark.
- Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark.
Publications dans "Exons VDJ" :
-
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Nucleic acids research 2024-02-07
-
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.
Human mutation 2021-12-30
Brage S Andresen
2 publications dans cette catégorie
Affiliations :
- Department of Biochemistry and Molecular Biology, University of Southern Denmark, 5230 Odense M, Denmark.
- Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark.
Publications dans "Exons VDJ" :
-
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Nucleic acids research 2024-02-07
-
Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.
Human mutation 2021-12-30
Zhiying Liu
2 publications dans cette catégorie
Affiliations :
- Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Publications dans "Exons VDJ" :
-
Six Exonic Variants in the
Frontiers in genetics 2020-11-05
-
Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.
Human molecular genetics
Ruixiao Zhang
2 publications dans cette catégorie
Affiliations :
- Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Publications dans "Exons VDJ" :
-
Six Exonic Variants in the
Frontiers in genetics 2020-11-05
-
Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.
Human molecular genetics
Irene Bottillo
2 publications dans cette catégorie
Affiliations :
- Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Italy.
Publications dans "Exons VDJ" :
-
Six Exonic Variants in the
Frontiers in genetics 2020-11-05
-
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
Endocrine 2019-02-21
Lu Zhang
2 publications dans cette catégorie
Affiliations :
- Burning Rock Biotech, Guangzhou, Guangdong 510300, P.R. China.
Publications dans "Exons VDJ" :
-
Mutations in exon 8 of
Oncology letters 2019-07-16
-
DSab-origin: a novel IGHD sensitive VDJ mapping method and its application on antibody response after influenza vaccination.
BMC bioinformatics 2019-03-14
Lianghua Shen
2 publications dans cette catégorie
Affiliations :
- Institute of Genomic Medicine, College of Pharmacy, Jinan University, Guangzhou 510632, China.
- International Cooperative Laboratory of Traditional Chinese Medicine Modernization and Innovative Drug Development of Chinese Ministry of Education (MOE), College of pharmacy, Jinan University, Guangzhou 510632, China.
Publications dans "Exons VDJ" :
-
Skipping of exon 10 in
Theranostics 2020-04-27
-
SRSF1 promotes the inclusion of exon 3 of SRA1 and the invasion of hepatocellular carcinoma cells by interacting with exon 3 of SRA1pre-mRNA.
Cell death discovery 2021-05-19
Sijia Lei
2 publications dans cette catégorie
Affiliations :
- Institute of Genomic Medicine, College of Pharmacy, Jinan University, Guangzhou 510632, China.
- International Cooperative Laboratory of Traditional Chinese Medicine Modernization and Innovative Drug Development of Chinese Ministry of Education (MOE), College of pharmacy, Jinan University, Guangzhou 510632, China.
Publications dans "Exons VDJ" :
-
Skipping of exon 10 in
Theranostics 2020-04-27
-
SRSF1 promotes the inclusion of exon 3 of SRA1 and the invasion of hepatocellular carcinoma cells by interacting with exon 3 of SRA1pre-mRNA.
Cell death discovery 2021-05-19
Bin Zhang
2 publications dans cette catégorie
Affiliations :
- Institute of Genomic Medicine, College of Pharmacy, Jinan University, Guangzhou 510632, China.
- International Cooperative Laboratory of Traditional Chinese Medicine Modernization and Innovative Drug Development of Chinese Ministry of Education (MOE), College of pharmacy, Jinan University, Guangzhou 510632, China.
Publications dans "Exons VDJ" :
-
Skipping of exon 10 in
Theranostics 2020-04-27
-
SRSF1 promotes the inclusion of exon 3 of SRA1 and the invasion of hepatocellular carcinoma cells by interacting with exon 3 of SRA1pre-mRNA.
Cell death discovery 2021-05-19
Luyuan Huang
2 publications dans cette catégorie
Affiliations :
- Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institute of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China.
Publications dans "Exons VDJ" :
-
Skipping of exon 10 in
Theranostics 2020-04-27
-
SRSF1 promotes the inclusion of exon 3 of SRA1 and the invasion of hepatocellular carcinoma cells by interacting with exon 3 of SRA1pre-mRNA.
Cell death discovery 2021-05-19
Alexander Czachor
2 publications dans cette catégorie
Affiliations :
- Department of Internal Medicine, Morsani College of Medicine, University of South Florida, 12901 Bruce B. Downs Blvd, MDC 19, Tampa, FL 33612, USA.
Publications dans "Exons VDJ" :
-
Skipping of exon 10 in
Theranostics 2020-04-27
-
SRSF1 promotes the inclusion of exon 3 of SRA1 and the invasion of hepatocellular carcinoma cells by interacting with exon 3 of SRA1pre-mRNA.
Cell death discovery 2021-05-19
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Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by challenges in social interaction and communication and the presence of restricted interests and repetitive behaviors. ...
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Autism Spectrum Disorder and Epilepsy.
Autism spectrum disorder (ASD), was first described in 1943 as a disorder consisting of a triad of qualitative impairments of social interaction, communication and restricted repetitive patterns of be...
Usefulness of the autism spectrum quotient (AQ) in screening for autism spectrum disorder and social communication disorder.
In the Diagnostic and Statistical Manual and Mental Disorders, Fifth Edition (DSM-5), autism spectrum disorder (ASD) and social (pragmatic) communication disorder (SCD) were described as a new categor... Participants were 127 ASD patients, 52 SCD patients, and 49 NT individuals. Receiver operating characteristic (ROC) analyses were used to examine AQ-J total score cutoff values to distinguish between ... In the ROC analysis for the ASD and NT groups, the area under the curve (AUC) was 0.96, and the optimum cutoff value was 23 points (sensitivity 92.9%, specificity 85.7%). The AUC for the SCD and NT gr... Our findings suggest the usefulness of the AQ-J in screening for ASD and SCD....
Comorbidities in autism spectrum disorder and their etiologies.
Individuals with autism spectrum disorder (ASD), in addition to the core features of the disease, experience a higher burden of co-occurring medical conditions. This study sought to describe the frequ...
Associations of Autism Spectrum Disorder with PM
This retrospective cohort study examined associations of autism spectrum disorder (ASD) with prenatal exposure to major fine particulate matter (PM...
A snapshot on introspection of autism spectrum disorder.
Autism spectrum disorder is a neurodevelopmental condition marked by restricted interests and difficulty with social communication. ASD is characterized by heightened neuroinflammation and irregular n...
Autism Spectrum Disorder: The New Asthma?
While autism spectrum disorder (ASD) has traditionally been diagnosed in specialty care, rising prevalence rates have strained specialist capacity and created significant diagnostic bottlenecks. With ...