The Gain-of-Function Mutation,
Rice spotted-leaf mutants are ideal materials to study the molecular mechanism underlying programmed cell death and disease resistance in plants....
Signaux de polyadénylation : Questions médicales fréquentes
Questions fréquentes et termes MeSH associés
Diagnostic 5
#1
Comment identifier les signaux de polyadénylation ?
L'analyse bioinformatique et les séquençages d'ARN permettent d'identifier ces signaux.
#2
Quels tests sont utilisés pour étudier la polyadénylation ?
Les tests RT-PCR et Northern blot sont couramment utilisés pour étudier la polyadénylation.
#3
Les signaux de polyadénylation sont-ils visibles sur des gels ?
Oui, les produits de polyadénylation peuvent être visualisés sur des gels d'agarose après électrophorèse.
#4
Peut-on détecter des anomalies dans la polyadénylation ?
Des anomalies peuvent être détectées par des variations dans la taille des ARNm sur des gels.
#5
Quels marqueurs indiquent une polyadénylation efficace ?
La présence d'une queue poly-A et la stabilité de l'ARNm sont des marqueurs d'efficacité.
Symptômes 5
#1
Quels symptômes sont liés à des défauts de polyadénylation ?
Des défauts peuvent entraîner une instabilité de l'ARNm, affectant la synthèse protéique.
#2
Les maladies génétiques sont-elles liées à la polyadénylation ?
Oui, certaines maladies génétiques peuvent résulter de mutations affectant les signaux de polyadénylation.
#3
Comment la polyadénylation affecte-t-elle le cancer ?
Des altérations dans la polyadénylation peuvent conduire à une expression aberrante de gènes oncogènes.
#4
Y a-t-il des symptômes associés à des ARNm instables ?
Oui, des ARNm instables peuvent entraîner des troubles métaboliques et des anomalies cellulaires.
#5
Les infections virales affectent-elles la polyadénylation ?
Certaines infections virales peuvent perturber les signaux de polyadénylation, affectant l'hôte.
Prévention 5
#1
Peut-on prévenir les anomalies de polyadénylation ?
La prévention passe par une bonne santé génétique et des dépistages précoces des maladies.
#2
Quel rôle joue l'alimentation dans la polyadénylation ?
Une alimentation équilibrée peut influencer positivement la régulation des gènes liés à la polyadénylation.
#3
Les facteurs environnementaux affectent-ils la polyadénylation ?
Oui, des facteurs comme les toxines peuvent perturber les mécanismes de polyadénylation.
#4
Comment le stress oxydatif influence-t-il la polyadénylation ?
Le stress oxydatif peut endommager l'ADN et affecter les signaux de polyadénylation.
#5
Les vaccinations influencent-elles la polyadénylation ?
Certaines recherches suggèrent que les vaccinations peuvent moduler l'expression des gènes liés.
Traitements 5
#1
Existe-t-il des traitements pour les anomalies de polyadénylation ?
Actuellement, il n'existe pas de traitements spécifiques, mais des thérapies géniques sont explorées.
#2
Comment les médicaments peuvent-ils influencer la polyadénylation ?
Certains médicaments peuvent moduler l'expression des gènes impliqués dans la polyadénylation.
#3
Les thérapies ciblées peuvent-elles aider ?
Oui, les thérapies ciblées peuvent potentiellement corriger les défauts de polyadénylation.
#4
Y a-t-il des approches expérimentales en cours ?
Des recherches sur des inhibiteurs spécifiques de la polyadénylation sont en cours dans des modèles précliniques.
#5
Les suppléments nutritionnels peuvent-ils aider ?
Certaines études suggèrent que des nutriments spécifiques pourraient soutenir la polyadénylation.
Complications 5
#1
Quelles complications peuvent survenir avec des défauts de polyadénylation ?
Des complications incluent des troubles métaboliques, des cancers et des maladies neurodégénératives.
#2
Les complications sont-elles réversibles ?
Certaines complications peuvent être gérées, mais d'autres peuvent être irréversibles selon la gravité.
#3
Comment les complications affectent-elles la qualité de vie ?
Les complications peuvent réduire la qualité de vie en limitant les capacités fonctionnelles.
#4
Y a-t-il des risques de complications à long terme ?
Oui, des risques de complications à long terme existent, notamment des cancers et des maladies chroniques.
#5
Les complications peuvent-elles être prévenues ?
Certaines complications peuvent être prévenues par un suivi médical régulier et des interventions précoces.
Facteurs de risque 5
#1
Quels sont les facteurs de risque pour les anomalies de polyadénylation ?
Les facteurs incluent des mutations génétiques, des expositions environnementales et des infections.
#2
L'âge est-il un facteur de risque ?
Oui, l'âge avancé peut augmenter le risque de mutations affectant la polyadénylation.
#3
Les habitudes de vie influencent-elles la polyadénylation ?
Des habitudes comme le tabagisme et l'alcoolisme peuvent affecter les mécanismes de polyadénylation.
#4
Les maladies chroniques augmentent-elles les risques ?
Oui, certaines maladies chroniques peuvent prédisposer à des anomalies de polyadénylation.
#5
Les facteurs génétiques jouent-ils un rôle ?
Oui, des antécédents familiaux de maladies peuvent augmenter le risque d'anomalies de polyadénylation.
Contenu validé par Dr Olivier Menir
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 29/03/2025
Contenu vérifié selon les dernières recommandations médicales
Auteurs principaux
Xiaohui Wu
6 publications dans cette catégorie
Affiliations :
- Department of Automation, Xiamen University, Xiamen, China.
- National Institute for Data Science in Health and Medicine, Xiamen University, Xiamen, China.
- Innovation Center for Cell Signaling Network, Xiamen University, Xiamen, China.
Publications dans "Signaux de polyadénylation" :
-
Modeling of Genome-Wide Polyadenylation Signals in
Frontiers in genetics 2019-07-03
-
A survey on identification and quantification of alternative polyadenylation sites from RNA-seq data.
Briefings in bioinformatics
-
Genome-Wide Comparative Analyses of Polyadenylation Signals in Eukaryotes Suggest a Possible Origin of the AAUAAA Signal.
International journal of molecular sciences 2019-02-22
-
A Survey on Methods for Predicting Polyadenylation Sites from DNA Sequences, Bulk RNA-seq, and Single-cell RNA-seq.
Genomics, proteomics & bioinformatics 2022-09-24
-
scAPAtrap: identification and quantification of alternative polyadenylation sites from single-cell RNA-seq data.
Briefings in bioinformatics
Guoli Ji
6 publications dans cette catégorie
Affiliations :
- Department of Automation, Xiamen University, Xiamen, China.
- National Institute for Data Science in Health and Medicine, Xiamen University, Xiamen, China.
- Innovation Center for Cell Signaling Network, Xiamen University, Xiamen, China.
Publications dans "Signaux de polyadénylation" :
-
Modeling of Genome-Wide Polyadenylation Signals in
Frontiers in genetics 2019-07-03
-
A survey on identification and quantification of alternative polyadenylation sites from RNA-seq data.
Briefings in bioinformatics
-
Genome-Wide Comparative Analyses of Polyadenylation Signals in Eukaryotes Suggest a Possible Origin of the AAUAAA Signal.
International journal of molecular sciences 2019-02-22
-
scAPAtrap: identification and quantification of alternative polyadenylation sites from single-cell RNA-seq data.
Briefings in bioinformatics
-
scDAPA: detection and visualization of dynamic alternative polyadenylation from single cell RNA-seq data.
Bioinformatics (Oxford, England)
Congting Ye
5 publications dans cette catégorie
Affiliations :
- National Institute for Data Science in Health and Medicine, Xiamen University, Xiamen, China.
- Key Laboratory of the Ministry of Education for Coastal and Wetland Ecosystems, College of the Environment and Ecology, Xiamen University, Xiamen, China.
Publications dans "Signaux de polyadénylation" :
-
Modeling of Genome-Wide Polyadenylation Signals in
Frontiers in genetics 2019-07-03
-
A survey on identification and quantification of alternative polyadenylation sites from RNA-seq data.
Briefings in bioinformatics
-
A Survey on Methods for Predicting Polyadenylation Sites from DNA Sequences, Bulk RNA-seq, and Single-cell RNA-seq.
Genomics, proteomics & bioinformatics 2022-09-24
-
scAPAtrap: identification and quantification of alternative polyadenylation sites from single-cell RNA-seq data.
Briefings in bioinformatics
-
scDAPA: detection and visualization of dynamic alternative polyadenylation from single cell RNA-seq data.
Bioinformatics (Oxford, England)
Bin Tian
5 publications dans cette catégorie
Affiliations :
- Gene Expression and Regulation Program, The Wistar Institute, Philadelphia, PA 19104, USA.
Publications dans "Signaux de polyadénylation" :
-
The androgen receptor couples promoter recruitment of RNA processing factors to regulation of alternative polyadenylation at the 3' end of transcripts.
Nucleic acids research
-
SCAPTURE: a deep learning-embedded pipeline that captures polyadenylation information from 3' tag-based RNA-seq of single cells.
Genome biology 2021-08-10
-
ALYREF links 3'-end processing to nuclear export of non-polyadenylated mRNAs.
The EMBO journal 2019-03-11
-
MAAPER: model-based analysis of alternative polyadenylation using 3' end-linked reads.
Genome biology 2021-08-10
-
Transcriptomic analysis reveals regulation of adipogenesis via long non-coding RNA, alternative splicing, and alternative polyadenylation.
Scientific reports 2024-07-23
Mihaela Zavolan
5 publications dans cette catégorie
Affiliations :
- Computational and Systems Biology, Biozentrum, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.
- Swiss Institute of Bioinformatics, Biozentrum, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.
Publications dans "Signaux de polyadénylation" :
-
CFIm-mediated alternative polyadenylation remodels cellular signaling and miRNA biogenesis.
Nucleic acids research
-
PolyASite 2.0: a consolidated atlas of polyadenylation sites from 3' end sequencing.
Nucleic acids research
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
bioRxiv : the preprint server for biology 2023-06-26
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
RNA (New York, N.Y.) 2023-10-10
-
MAPP unravels frequent co-regulation of splicing and polyadenylation by RNA-binding proteins and their dysregulation in cancer.
Nature communications 2024-05-15
Wenbin Ye
4 publications dans cette catégorie
Affiliations :
- Department of Automation, Xiamen University, Xiamen 361005, China.
- Xiamen Research Institute of National Center of Healthcare Big Data, Xiamen 361005, China.
Publications dans "Signaux de polyadénylation" :
-
A survey on identification and quantification of alternative polyadenylation sites from RNA-seq data.
Briefings in bioinformatics
-
A Survey on Methods for Predicting Polyadenylation Sites from DNA Sequences, Bulk RNA-seq, and Single-cell RNA-seq.
Genomics, proteomics & bioinformatics 2022-09-24
-
scAPAtrap: identification and quantification of alternative polyadenylation sites from single-cell RNA-seq data.
Briefings in bioinformatics
-
TDP-43 dysregulation of polyadenylation site selection is a defining feature of RNA misprocessing in ALS/FTD and related disorders.
bioRxiv : the preprint server for biology 2024-01-22
Christina J Herrmann
4 publications dans cette catégorie
Affiliations :
- Computational and Systems Biology, Biozentrum, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.
- Swiss Institute of Bioinformatics, Biozentrum, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.
Publications dans "Signaux de polyadénylation" :
-
CFIm-mediated alternative polyadenylation remodels cellular signaling and miRNA biogenesis.
Nucleic acids research
-
PolyASite 2.0: a consolidated atlas of polyadenylation sites from 3' end sequencing.
Nucleic acids research
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
bioRxiv : the preprint server for biology 2023-06-26
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
RNA (New York, N.Y.) 2023-10-10
Alexander Kanitz
4 publications dans cette catégorie
Affiliations :
- Computational and Systems Biology, Biozentrum, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.
- Swiss Institute of Bioinformatics, Biozentrum, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.
Publications dans "Signaux de polyadénylation" :
-
CFIm-mediated alternative polyadenylation remodels cellular signaling and miRNA biogenesis.
Nucleic acids research
-
PolyASite 2.0: a consolidated atlas of polyadenylation sites from 3' end sequencing.
Nucleic acids research
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
bioRxiv : the preprint server for biology 2023-06-26
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
RNA (New York, N.Y.) 2023-10-10
Matthew R Gazzara
3 publications dans cette catégorie
Affiliations :
- Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Graduate Group in Genomics and Computational Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Publications dans "Signaux de polyadénylation" :
-
RNA Binding Protein CELF2 Regulates Signal-Induced Alternative Polyadenylation by Competing with Enhancers of the Polyadenylation Machinery.
Cell reports
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
bioRxiv : the preprint server for biology 2023-06-26
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
RNA (New York, N.Y.) 2023-10-10
Sven Danckwardt
3 publications dans cette catégorie
Affiliations :
- Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
- Center for Thrombosis and Hemostasis (CTH), University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
- German Center for Cardiovascular Research (DZHK), Rhine-Main, Germany.
Publications dans "Signaux de polyadénylation" :
-
Emerging Roles of RNA 3'-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders.
Biomolecules 2020-06-17
-
TRENDseq-A highly multiplexed high throughput RNA 3' end sequencing for mapping alternative polyadenylation.
Methods in enzymology 2021-05-26
-
The Bidirectional Link Between RNA Cleavage and Polyadenylation and Genome Stability: Recent Insights From a Systematic Screen.
Frontiers in genetics 2022-04-28
Hongjuan Fu
3 publications dans cette catégorie
Affiliations :
- Department of Automation, Xiamen University, Xiamen, China.
Publications dans "Signaux de polyadénylation" :
-
Modeling of Genome-Wide Polyadenylation Signals in
Frontiers in genetics 2019-07-03
-
A survey on identification and quantification of alternative polyadenylation sites from RNA-seq data.
Briefings in bioinformatics
-
scAPAmod: Profiling Alternative Polyadenylation Modalities in Single Cells from Single-Cell RNA-Seq Data.
International journal of molecular sciences 2022-07-23
Dinghai Zheng
3 publications dans cette catégorie
Affiliations :
- Department of Microbiology, Biochemistry and Molecular Genetics, Rutgers New Jersey Medical School, Newark, NJ 07103, USA.
Publications dans "Signaux de polyadénylation" :
-
The androgen receptor couples promoter recruitment of RNA processing factors to regulation of alternative polyadenylation at the 3' end of transcripts.
Nucleic acids research
-
ALYREF links 3'-end processing to nuclear export of non-polyadenylated mRNAs.
The EMBO journal 2019-03-11
-
MAAPER: model-based analysis of alternative polyadenylation using 3' end-linked reads.
Genome biology 2021-08-10
Kevin Struhl
3 publications dans cette catégorie
Affiliations :
- Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts, USA.
Publications dans "Signaux de polyadénylation" :
-
How is polyadenylation restricted to 3'-untranslated regions?
Yeast (Chichester, England) 2023-12-02
-
3' Untranslated Regions Are Modular Entities That Determine Polyadenylation Profiles.
Molecular and cellular biology 2022-08-16
-
Chromatin regulates alternative polyadenylation via the RNA polymerase II elongation rate.
Proceedings of the National Academy of Sciences of the United States of America 2024-05-15
Gregor Rot
3 publications dans cette catégorie
Affiliations :
- Institute of Molecular Life Sciences, Winterthurerstrasse 190, 8057 Zurich, Switzerland.
- Swiss Institute of Bioinformatics, Amphipôle, Quartier UNIL-Sorge, 1015 Lausanne, Switzerland.
Publications dans "Signaux de polyadénylation" :
-
Analysis of RNA Polyadenylation in Healthy and Osteoarthritic Human Articular Cartilage.
International journal of molecular sciences 2023-04-01
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
bioRxiv : the preprint server for biology 2023-06-26
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
RNA (New York, N.Y.) 2023-10-10
Joseph V Geisberg
3 publications dans cette catégorie
Affiliations :
- Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical Schoolgrid.471403.5, Boston, Massachusetts, USA.
Publications dans "Signaux de polyadénylation" :
-
3' Untranslated Regions Are Modular Entities That Determine Polyadenylation Profiles.
Molecular and cellular biology 2022-08-16
-
Chromatin regulates alternative polyadenylation via the RNA polymerase II elongation rate.
Proceedings of the National Academy of Sciences of the United States of America 2024-05-15
-
Location of polyadenylation sites within 3' untranslated regions is linked to biological function in yeast.
Genetics 2024-10-09
Zarmik Moqtaderi
3 publications dans cette catégorie
Affiliations :
- Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical Schoolgrid.471403.5, Boston, Massachusetts, USA.
Publications dans "Signaux de polyadénylation" :
-
3' Untranslated Regions Are Modular Entities That Determine Polyadenylation Profiles.
Molecular and cellular biology 2022-08-16
-
Chromatin regulates alternative polyadenylation via the RNA polymerase II elongation rate.
Proceedings of the National Academy of Sciences of the United States of America 2024-05-15
-
Location of polyadenylation sites within 3' untranslated regions is linked to biological function in yeast.
Genetics 2024-10-09
Wei Li
3 publications dans cette catégorie
Affiliations :
- Division of Computational Biomedicine, Department of Biological Chemistry, School of Medicine, University of California, Irvine, CA, United States. Electronic address: wei.li@uci.edu.
Publications dans "Signaux de polyadénylation" :
-
Computational analysis of alternative polyadenylation from standard RNA-seq and single-cell RNA-seq data.
Methods in enzymology 2021-04-23
-
3'aQTL-atlas: an atlas of 3'UTR alternative polyadenylation quantitative trait loci across human normal tissues.
Nucleic acids research
-
TDP-43 dysregulation of polyadenylation site selection is a defining feature of RNA misprocessing in ALS/FTD and related disorders.
bioRxiv : the preprint server for biology 2024-01-22
Leonard Schärfen
3 publications dans cette catégorie
Affiliations :
- Department of Molecular Biophysics & Biochemistry, Yale University, New Haven CT, USA.
Publications dans "Signaux de polyadénylation" :
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
bioRxiv : the preprint server for biology 2023-06-26
-
Extensible benchmarking of methods that identify and quantify polyadenylation sites from RNA-seq data.
RNA (New York, N.Y.) 2023-10-10
-
Identification of Alternative Polyadenylation in
Frontiers in genetics 2022-01-28
Ran Elkon
2 publications dans cette catégorie
Affiliations :
- Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Publications dans "Signaux de polyadénylation" :
Stefano Spada
2 publications dans cette catégorie
Affiliations :
- Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
- Center for Thrombosis and Hemostasis (CTH), University Medical Center of the Johannes Gutenberg University, 55131 Mainz, Germany.
Publications dans "Signaux de polyadénylation" :
-
Emerging Roles of RNA 3'-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders.
Biomolecules 2020-06-17
-
The Bidirectional Link Between RNA Cleavage and Polyadenylation and Genome Stability: Recent Insights From a Systematic Screen.
Frontiers in genetics 2022-04-28
Sources (10000 au total)
Gain-of-function mutations in the catalytic domain of
Lung cancer is a lethal malignancy lacking effective therapies. Emerging evidence suggests that epigenetic enzyme mutations are closely related to the malignant phenotype of lung cancer. Here, we iden...
Gain-of-function STAT1 mutation and visceral leishmaniasis.
Gain-of-function mutations in the STAT1 gene have been initially associated with chronic mucocutaneous candidiasis. However, further research has shown that STAT1 GOF variants may increase susceptibil...
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences.
The JAK/STAT signaling pathway plays a key role in cytokine signaling and is involved in development, immunity, and tumorigenesis for nearly any cell. At first glance, the JAK/STAT signaling pathway a...
Somatic gain-of-function mutations in BUD13 promote oncogenesis by disrupting Fbw7 function.
Somatic mutations occurring on key enzymes are extensively studied and targeted therapies are developed with clinical promises. However, context-dependent enzyme function through distinct substrates c...
SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.
Loss-of-function variants in SCN1A cause Dravet syndrome, the most common genetic developmental and epileptic encephalopathy (DEE). However, emerging evidence suggests separate entities of SCN1A-relat... Individuals carrying the recurrent SCN1A p.R1636Q variant were identified through diagnostic testing. Whole cell voltage-clamp electrophysiological recording in HEK-293 T cells was performed to compar... All four individuals had an early onset DEE characterized by focal tonic seizures and additional seizure types starting in the first few weeks of life. Electrophysiological analysis showed a mixed gai... The recurrent SCN1A p.R1636Q variant causes a clinical entity with a wider clinical spectrum than previously reported, characterized by neonatal onset epilepsy and absence of prominent movement disord...
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Sleep apnea is a common disorder that represents a global public health burden. KCNK3 encodes TASK-1, a K...
Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.
Orbital cavernous venous malformation (OCVM) is a sporadic vascular anomaly of uncertain etiology characterized by abnormally dilated vascular channels. Here, we identify a somatic missense mutation, ...
Cellular Mechanisms Underlying B Cell Abnormalities in Patients With Gain-of-Function Mutations in the
Activated phosphoinositide 3 kinase (PI3K) -delta syndrome (APDS) is an inborn error of immunity with variable clinical phenotype of immunodeficiency and immune dysregulation and caused by gain-of-fun... To explore unique B cell subsets and the pathomechanisms driving B cell dysregulation beyond the transitional B cell stage in APDS.... Clinical and immunological data was collected from 24 patients with APDS. In five cases, we performed an in-depth analysis of B cell phenotypes and cultured purified naïve B cells to evaluate their su... The patients had increased B cell sizes and higher proportions of IgM... The present study suggests additional mechanistic insight into B cell pathology of APDS: (1) decreased peripheral B cell numbers may be due to the increased death of naïve B cells; (2) larger B cell s...
Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca
Gain-of-function mutations of dynamin-2, a mechano-GTPase that remodels membrane and actin filaments, cause centronuclear myopathy (CNM), a congenital disease that mainly affects skeletal muscle tissu...