المؤلفون: Martínez Pizarro, Ainhoa, Leal, Fátima, Bueno, María, Estébanez Pérez, Belén, Ruiz Desviat, Lourdes, Lolle Holm, Lise, Doktor, Thomas K., S.S. Petersen, Ulrika, Thöny, Beat, S. Andresen, Brage

المساهمون: UAM. Departamento de Biología

مصطلحات موضوعية: pseudoexons, splicing, antisense oligonucleotides, tetrahydrobiopterin, Biología y Biomedicina / Biología

وصف الملف: application/pdf

Relation: Nucleic Acid Therapeutics; http://doi.org/10.1089/nat.2021.0066; Gobierno de España. PID2019-105344RB-I00; Gobierno de España. FEDER/AEI/10.13039/501100011033; http://hdl.handle.net/10486/709940; 378; 390; 32

الاتاحة: http://hdl.handle.net/10486/709940
https://doi.org/10.1089/nat.2021.0066

المؤلفون: Niall P. Keegan, Steve D. Wilton, Sue Fletcher

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: pseudoexons, cryptic splicing, splicing mutations, recursive splicing, poison exons, genetic disease, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.943044/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/69bdad9e8dbe4f62a1217208267b5403

المؤلفون: Niall P. Keegan, Steve D. Wilton, Sue Fletcher

المصدر: Frontiers in Genetics, Vol 12 (2022)

مصطلحات موضوعية: pseudoexons, cryptic splicing, splicing mutations, recursive splicing, poison exons, genetic disease, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.806946/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/8539cadce7004dbf8d01f49e526ad9c5

المؤلفون: D Alexieva, Y Long, R Sarkar, H Dhayan, E Bruet, R Winston, I Vorechovsky, Leandro Castellano, N J Dibb

مصطلحات موضوعية: Cryptic splice site, background splicing, cancer, exon skipping, pseudoexons, recursive splicing, Alternative Splicing, Computational Biology, Databases, Genetic, Exons, Gene Expression Profiling, Gene Expression Regulation, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Humans, Introns, Mutation, RNA Splice Sites, RNA Splicing

Relation: 10779/uos.23488721.v1; https://figshare.com/articles/journal_contribution/Background_splicing_as_a_predictor_of_aberrant_splicing_in_genetic_disease/23488721

الاتاحة: https://figshare.com/articles/journal_contribution/Background_splicing_as_a_predictor_of_aberrant_splicing_in_genetic_disease/23488721

المؤلفون: Alejandro Moles-Fernández, Joanna Domènech-Vivó, Anna Tenés, Judith Balmaña, Orland Diez, Sara Gutiérrez-Enríquez

المصدر: Cancers; Volume 13; Issue 13; Pages: 3341

مصطلحات موضوعية: spliceogenic deep intronic variants, pseudoexons, cryptic splice sites, splicing regulatory elements, hereditary breast ovarian cancer, in silico prediction tools

وصف الملف: application/pdf

Relation: Cancer Informatics and Big Data; https://dx.doi.org/10.3390/cancers13133341

الاتاحة: https://doi.org/10.3390/cancers13133341

المؤلفون: Fadwa A. Elsayed, Hans Morreau, Frederik J. Hes, Maartje Nielsen, Carli M. J. Tops, Tom van Wezel

المساهمون: Clinical sciences, Medical Genetics

المصدر: Familial Cancer, 21, 79-83. SPRINGER
Familial Cancer

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Genes, APC, Unexplained colorectal polyposis, Adenomatous Polyposis Coli Protein, Colorectal polyposis, 030105 genetics & heredity, Biology, Germline, DNA sequencing, 03 medical and health sciences, symbols.namesake, Mosaic variants, Genetics, Humans, Gene, Germ-Line Mutation, Genetics (clinical), Sanger sequencing, Intronic variants, High-Throughput Nucleotide Sequencing, Human genetics, APC, Pseudoexons, 030104 developmental biology, Adenomatous Polyposis Coli, Oncology, Mutation, Dutch Population, symbols, Original Article, Colorectal Neoplasms

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d71db9896bc8a6d1011a017383708c
https://doi.org/10.1007/s10689-021-00236-2

المؤلفون: Ainhoa Martínez-Pizarro, Fátima Leal, Lise Lolle Holm, Thomas K. Doktor, Ulrika S.S. Petersen, María Bueno, Beat Thöny, Belén Pérez, Brage S. Andresen, Lourdes R. Desviat

المساهمون: University of Zurich, Desviat, Lourdes R

مصطلحات موضوعية: 1303 Biochemistry, 3002 Drug Discovery, RNA Splicing, Oligonucleotides, 610 Medicine & health, Exons, Oligonucleotides, Antisense, Biochemistry, Introns, splicing, 1311 Genetics, 10036 Medical Clinic, 1313 Molecular Medicine, Drug Discovery, pseudoexons, tetrahydrobiopterin, Mutation, 1312 Molecular Biology, Genetics, Molecular Medicine, Humans, RNA Splice Sites, antisense oligonucleotides, Phosphorus-Oxygen Lyases, Molecular Biology

وصف الملف: application/pdf; nat.2021.0066.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a26cff279e476a23d1e4b9c9ae9508c

المؤلفون: Bruun, Gitte, Doktor, Thomas, Borch-Jensen, Jonas, Masuda, Akio, Krainer, Adrian, Ohno, Kinji, Andresen, Brage

مصطلحات موضوعية: hnRNP A1, iCLIP, Splicing splice-switching oligonucleotides (SSOs), Pseudoexons, Alternative splicing, Splicing silencer, Cross-linking immunoprecipitation (CLIP), RNA-seq, Surface plasmon resonance imaging (SPRi)

Relation: http://www.biomedcentral.com/1741-7007/14/54

الاتاحة: http://www.biomedcentral.com/1741-7007/14/54

المؤلفون: Niall P. Keegan (11991509), Steve D. Wilton (9425656), Sue Fletcher (77445)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, pseudoexons, cryptic splicing, splicing mutations, recursive splicing, poison exons, genetic disease

Relation: https://figshare.com/articles/figure/Image2_Analysis_of_Pathogenic_Pseudoexons_Reveals_Novel_Mechanisms_Driving_Cryptic_Splicing_tif/18971879

الاتاحة: https://doi.org/10.3389/fgene.2021.806946.s002

المؤلفون: Niall P. Keegan (11991509), Steve D. Wilton (9425656), Sue Fletcher (77445)

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, pseudoexons, cryptic splicing, splicing mutations, recursive splicing, poison exons, genetic disease

Relation: https://figshare.com/articles/dataset/Table1_Analysis_of_Pathogenic_Pseudoexons_Reveals_Novel_Mechanisms_Driving_Cryptic_Splicing_XLSX/18971888

الاتاحة: https://doi.org/10.3389/fgene.2021.806946.s004

المؤلفون: Niall P. Keegan, Steve D. Wilton, Sue Fletcher

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, pseudoexons, cryptic splicing, splicing mutations, recursive splicing, poison exons, genetic disease

Relation: https://figshare.com/articles/dataset/DataSheet1_Analysis_of_Pathogenic_Pseudoexons_Reveals_Novel_Mechanisms_Driving_Cryptic_Splicing_xlsx/20037029

الاتاحة: https://doi.org/10.3389/fgene.2021.806946.s005
https://figshare.com/articles/dataset/DataSheet1_Analysis_of_Pathogenic_Pseudoexons_Reveals_Novel_Mechanisms_Driving_Cryptic_Splicing_xlsx/20037029

المؤلفون: Elsayed, F.A., Tops, C.M.J., Nielsen, M., Morreau, H., Hes, F.J., Wezel, T. van

المصدر: Familial Cancer

مصطلحات موضوعية: Unexplained colorectal polyposis, APC, Mosaic variants, Intronic variants, Pseudoexons

وصف الملف: application/pdf

Relation: https://link.springer.com/content/pdf/10.1007/s10689-021-00236-2.pdf; lumc-id: 120444421; https://hdl.handle.net/1887/3212841

الاتاحة: https://hdl.handle.net/1887/3212841
https://link.springer.com/content/pdf/10.1007/s10689-021-00236-2.pdf
https://doi.org/10.1007/s10689-021-00236-2

المؤلفون: Collado Galbis, Constancio

المصدر: RiuNet. Repositorio Institucional de la Universitat Politécnica de Valéncia
instname

مصطلحات موضوعية: Pseudoexones, Intronic mutations, Predictores Bioinformáticos, Minigenes, Grado en Biotecnología-Grau en Biotecnologia, Splicing, Pseudoexons, Acute Myeloid Leukemya, TCGA, Leucemia Mieloide Aguda, BIOQUIMICA Y BIOLOGIA MOLECULAR, Bioinformatic Predictors, Mutaciones intronicas

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3aeaec383ad8657a98bcebfb1311fcca
https://hdl.handle.net/10251/150132

المؤلفون: Gitte Hoffmann Bruun, Kinji Ohno, Thomas Koed Doktor, Adrian R. Krainer, Akio Masuda, Jonas Borch-Jensen, Brage S. Andresen

المصدر: BMC Biology
Bruun, G H, Doktor, T K, Borch-Jensen, J, Masuda, A, Krainer, A R, Ohno, K & Andresen, B S 2016, ' Global identification of hnRNP A1 binding sites for SSO-based splicing modulation ', BMC Biology, vol. 14, no. 1, pp. 54 . https://doi.org/10.1186/s12915-016-0279-9

مصطلحات موضوعية: 0301 basic medicine, Physiology, Heterogeneous Nuclear Ribonucleoprotein A1, Exonic splicing enhancer, Oligonucleotides, Splicing silencer, Plant Science, Cross-linking immunoprecipitation (CLIP), Regulatory Sequences, Nucleic Acid, Exon, Structural Biology, Heterogeneous-Nuclear Ribonucleoprotein Group A-B, hnRNP A1, Genetics, Agricultural and Biological Sciences(all), Nucleotides, Exons, Cross-Linking Reagents, RNA splicing, Surface plasmon resonance imaging (SPRi), General Agricultural and Biological Sciences, ICLIP, Biotechnology, Research Article, RNA Splicing, iCLIP, Computational biology, Biology, Models, Biological, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Humans, Immunoprecipitation, Genetic Predisposition to Disease, Binding site, Ecology, Evolution, Behavior and Systematics, Binding Sites, Base Sequence, Biochemistry, Genetics and Molecular Biology(all), Alternative splicing, Intron, Cell Biology, Pseudoexons, 030104 developmental biology, HEK293 Cells, Splicing splice-switching oligonucleotides (SSOs), A549 Cells, RNA Splice Sites, RNA-seq, Transcriptome, Developmental Biology, HeLa Cells

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e129e9af45724aa69885ffd0ba5fb3
https://pubmed.ncbi.nlm.nih.gov/27380775

المؤلفون: Messaoud Khelifi, Mouna

Thesis Advisors: Montpellier 1, Tuffery-Giraud, Sylvie

مصطلحات موضوعية: Gène DMD, Epissage, Saut d'exon thérapeutique, Oligonucléotides antisens, Séquences cis-régulatrices, Pseudoexons, DMD gene, Splicing, Exon skipping therapeutic strategy, Antisense oligonucleotides, Cis-regulatory sequences

الاتاحة: http://www.theses.fr/2010MON13521/document

المؤلفون: Messaoud Khelifi, Mouna

المساهمون: Montpellier 1, Tuffery-Giraud, Sylvie

مصطلحات موضوعية: Gène DMD, Epissage, Saut d'exon thérapeutique, Oligonucléotides antisens, Séquences cis-régulatrices, Pseudoexons, DMD gene, Splicing, Exon skipping therapeutic strategy, Antisense oligonucleotides, Cis-regulatory sequences

Relation: http://www.theses.fr/2010MON13521/document

الاتاحة: http://www.theses.fr/2010MON13521/document

المؤلفون: García Gimeno, María Adelaida, Ibañez Company, Maria Amparo, Liquori, Alessandro, Universitat Politècnica de València. Departamento de Biotecnología - Departament de Biotecnologia, Universitat Politècnica de València. Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural - Escola Tècnica Superior d'Enginyeria Agronòmica i del Medi Natural, Collado Galbis, Constancio

مصطلحات الفهرس: Leucemia Mieloide Aguda, Splicing, Mutaciones intronicas, Pseudoexones, Minigenes, Predictores Bioinformáticos, TCGA., Acute Myeloid Leukemya, Intronic mutations, Pseudoexons, Bioinformatic Predictors, BIOQUIMICA Y BIOLOGIA MOLECULAR, Grado en Biotecnología-Grau en Biotecnologia, info:eu-repo/semantics/bachelorThesis

URL: http://hdl.handle.net/10251/150132