المؤلفون: Alexander Varzari, Igor V. Deyneko, Gitte Hoffmann Bruun, Maja Dembic, Winfried Hofmann, Victor M. Cebotari, Sergei S. Ginda, Brage S. Andresen, Thomas Illig

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: disseminated tuberculosis, BCG-itis, primary immunodeficiency (PID) disorders, whole-exome sequencing (WES), trio analysis, pre-mRNA splicing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.969895/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/45a80c359357407798df86e0a462fdeb

المؤلفون: Sabrina Brøner, Alexander G B Grønning, Lise Christensen, Gitte Hoffmann Bruun, Barbara Guerra, Thomas Koed Doktor, Brage S. Andresen, Ulrika S. S. Petersen, Jeanne M V Bang

المصدر: Nucleic Acids Research
Bruun, G H, Bang, J M, Christensen, L L, Brøner, S, Petersen, U S, Guerra, B, Grønning, A G, Doktor, T K & Andresen, B S 2018, ' Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells ', Nucleic Acids Research, vol. 46, no. 15, pp. 7938-7952 . https://doi.org/10.1093/nar/gky395

مصطلحات موضوعية: 0301 basic medicine, Heterogeneous Nuclear Ribonucleoprotein A1, RNA Splicing, Oligonucleotides, Regulatory Sequences, Nucleic Acid, Biology, environment and public health, Cell Line, 03 medical and health sciences, Exon, 0302 clinical medicine, RNA and RNA-protein complexes, Genetics, medicine, Humans, Cells, Cultured, Binding Sites, Base Sequence, IKBKAP, Intron, Exons, Fibroblasts, medicine.disease, Splicing regulatory element, Introns, Cell biology, 030104 developmental biology, Familial dysautonomia, Regulatory sequence, Mutation, RNA splicing, Transcriptional Elongation Factors, Carrier Proteins, 030217 neurology & neurosurgery, Minigene

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8a18e1f9d247ea9a4840dd1d2a3dbda
https://doi.org/10.1093/nar/gky395

المؤلفون: William B. Mair, Thomas Koed Doktor, Brendan D. Manning, Carlos G. Silva-García, Anne Lanjuin, Sneha Dutta, Yue Zhang, Gitte Hoffmann Bruun, Brage S. Andresen, Heather J. Weir, Caroline Heintz, Ianessa Morantte, Gerta Hoxhaj, Caroline C. Escoubas

المصدر: Nature
Heintz, C, Doktor, T K, Lanjuin, A, Escoubas, C C, Zhang, Y, Weir, H J, Dutta, S, Silva-García, C G, Bruun, G H, Morantte, I, Hoxhaj, G, Manning, B D, Andresen, B S & Mair, W B 2017, ' Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans ', Nature, vol. 541, no. 7635, pp. 102-106 . https://doi.org/10.1038/nature20789

مصطلحات موضوعية: 0301 basic medicine, Spliceosome, Aging, RNA Splicing, Longevity, Biology, AMP-Activated Protein Kinases, Mechanistic Target of Rapamycin Complex 1, Article, 03 medical and health sciences, Splicing factor, 0302 clinical medicine, Gene expression, RNA Precursors, Animals, Homeostasis, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Caloric Restriction, 2. Zero hunger, Regulation of gene expression, Genetics, Multidisciplinary, Genome, TOR Serine-Threonine Kinases, Alternative splicing, Ribosomal Protein S6 Kinases, 70-kDa, biology.organism_classification, 030104 developmental biology, Multiprotein Complexes, RNA splicing, RNA Splicing Factors, Precursor mRNA, Transcriptome, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10f5ce8d0c08a62143cbe9656c588616
http://europepmc.org/articles/PMC5361225

المؤلفون: Thomas Koed Doktor, Ulrika S. S. Petersen, Gitte Hoffmann Bruun, Alexander Gulliver Bjoernholt Groenning, Brage S. Andresen, Jan Baumbach, Simon J. Larsen, Michael Birkerod Hansen, Anne-Mette Hartung, Lise Lolle Holm

المصدر: Grønning, A G B, Doktor, T K, Larsen, S J, Petersen, U S S, Holm, L L, Bruun, G H, Hansen, M B, Hartung, A-M, Baumbach, J & Andresen, B S 2020, ' DeepCLIP : predicting the effect of mutations on protein-RNA binding with deep learning ', Nucleic acids research, vol. 48, no. 13, pp. 7099-7118 . https://doi.org/10.1093/nar/gkaa530
Nucleic Acids Research

مصطلحات موضوعية: Computer science, AcademicSubjects/SCI00010, Stability (learning theory), RNA-binding protein, Context (language use), Plasma protein binding, Computational biology, Biology, Exon, 03 medical and health sciences, Mice, Narese/16, 0302 clinical medicine, Deep Learning, Genetics, Animals, Humans, Computer Simulation, Binding site, Nucleic acid structure, Nucleotide Motifs, 030304 developmental biology, Sequence (medicine), 0303 health sciences, Binding Sites, Base Sequence, RNA, Computational Biology, RNA-Binding Proteins, Narese/24, RNA splicing, Mutation, Nucleic acid, Nucleic Acid Conformation, 030217 neurology & neurosurgery, Protein Binding

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f9df55350b26200afc645327c5e9008

المؤلفون: Maj Rabjerg, Kathleen Chea, Mirka Hlavacova, Thomas Koed Doktor, Susanne Schaefer, Isabel Dominguez, Brage S. Andresen, Sabrina Brøner Frederiksen, Barbara Guerra, Gitte Hoffmann Bruun

المصدر: Scientific Reports
Schaefer, S, Doktor, T K, Frederiksen, S B, Chea, K, Hlavacova, M, Bruun, G H, Rabjerg, M, Andresen, B S, Dominguez, I & Guerra, B 2019, ' Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genes ', Scientific Reports, vol. 9, no. 1, 14581 . https://doi.org/10.1038/s41598-019-51056-5
Schaefer, S, Doktor, T K, Brøner Frederiksen, S, Chea, K, Hlavacova, M, Bruun, G H, Rabjerg, M, Andresen, B S, Dominguez, I & Guerra, B 2019, ' Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genes ', Scientific Reports, vol. 9, no. 1, 14581 . https://doi.org/10.1038/s41598-019-51056-5
Scientific Reports, Vol 9, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: DNA Replication, Male, Cell biology, DNA replication initiation, lcsh:Medicine, Down-Regulation, Gene Expression Regulation, Enzymologic, Article, Cell Line, Myoblasts, 03 medical and health sciences, Mice, 0302 clinical medicine, Minichromosome maintenance, Catalytic Domain, Animals, Humans, RNA-Seq, Phosphorylation, lcsh:Science, Casein Kinase II, Gene, 030304 developmental biology, Cell Proliferation, 0303 health sciences, Multidisciplinary, biology, Minichromosome Maintenance Proteins, Cell growth, lcsh:R, Cell Cycle, Homozygote, Biological techniques, DNA replication, Helicase, Cell cycle, 030220 oncology & carcinogenesis, biology.protein, Disease Progression, Origin recognition complex, lcsh:Q, Female, Gene Deletion, DNA Damage

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77141bb9d770c788f93a9704b20f4846
https://pubmed.ncbi.nlm.nih.gov/31601942

المؤلفون: Thomas Rosenberg, Pernille Harris, Brage S. Andresen, Cathrine Jespersgaard, Karen Brøndum-Nielsen, Gitte Hoffmann Bruun, Karen Grønskov

المصدر: Grønskov, K, Jespersgaard, C, Bruun, G H, Harris, P, Brøndum-Nielsen, K, Andresen, B S & Rosenberg, T 2019, ' A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1 ', Scientific Reports, vol. 9, no. 1, 645 . https://doi.org/10.1038/s41598-018-37272-5
Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)
Scientific Reports

مصطلحات موضوعية: Male, 0301 basic medicine, Ocular albinism, SLC45A2, lcsh:Medicine, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, TYRP1, Allele, lcsh:Science, Genetics, OCA2, Partial albinism, Multidisciplinary, lcsh:R, Albinism, Ocular, medicine.disease, Oculocutaneous albinism, eye diseases, Pedigree, Europe, 030104 developmental biology, Haplotypes, Albinism, biology.protein, Female, lcsh:Q, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c25bf02308a568dcb575d66698db9d5
https://findresearcher.sdu.dk:8443/ws/files/148650010/A_pathogenic_haplotype_common.pdf

المؤلفون: Trine Tangeraas, Yngve Thomas Bliksrud, Signe Mosegaard, Karen Freund Flyvbjerg, Ellen Annexstad, Gitte Hoffmann Bruun, Maja Dembic, Niels Gregersen, Brage S. Andresen, Rikke Katrine Jentoft Olsen

المصدر: Mosegaard, S, Bruun, G H, Flyvbjerg, K F, Bliksrud, Y T, Gregersen, N, Dembic, M, Annexstad, E, Tangeraas, T, Olsen, R K J & Andresen, B S 2017, ' An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency ', Molecular Genetics and Metabolism, vol. 122, no. 4, pp. 182-188 . https://doi.org/10.1016/j.ymgme.2017.10.014

مصطلحات موضوعية: 0301 basic medicine, Heterozygote, Riboflavin, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Flavoprotein, Flavin mononucleotide, Dehydrogenase, Biology, Biochemistry, Cofactor, Receptors, G-Protein-Coupled, 03 medical and health sciences, Exon, chemistry.chemical_compound, Endocrinology, Pregnancy, Genetics, Journal Article, Humans, heterocyclic compounds, Multiple Acyl Coenzyme A Dehydrogenase Deficiency, Molecular Biology, Flavin adenine dinucleotide, Infant, Newborn, Genetic Variation, Membrane Transport Proteins, DNA, Exons, Fibroblasts, Molecular biology, Introns, Exon skipping, HEK293 Cells, 030104 developmental biology, chemistry, Case-Control Studies, Mutation, biology.protein, Female, Oxidation-Reduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8220353fc3a41b1c40b09353ef8c4f6a
https://pure.au.dk/portal/da/publications/an-intronic-variation-in-slc52a1-causes-exon-skipping-and-transient-riboflavinresponsive-multiple-acylcoa-dehydrogenation-deficiency(623aad37-edc1-4d44-a06f-8f82228906bd).html

المؤلفون: Rugivan Sabaratnam, Bruno Palhais, Veronica S. Præstegaard, Henriette Skovgaard Andersen, Viktor Kožich, Patricie Burda, Thomas Koed Doktor, Seraina Lutz, Brian Fowler, Gitte Hoffmann Bruun, Terttu Suormala, Matthias R. Baumgartner, Brage S. Andresen

المساهمون: University of Zurich, Andresen, Brage Storstein

المصدر: Palhais, B, Præstegaard, V, Sabaratnam, R, Doktor, T K, Lutz, S, Burda, P, Suormala, T, Baumgartner, M, Fowler, B, Bruun, G H, Andersen, H S, Kozich, V & Andresen, B S 2015, ' Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T >C MTRR mutation corrects splicing and restores enzyme activity in patient cells ', Nucleic Acids Research, vol. 43, no. 9, pp. 4627-4639 . https://doi.org/10.1093/nar/gkv275
Nucleic acids research
Nucleic Acids Research

مصطلحات موضوعية: Anemia, Megaloblastic, RNA Splicing, Oligonucleotides, Exonic splicing enhancer, 610 Medicine & health, Regulatory Sequences, Ribonucleic Acid, Biology, medicine.disease_cause, Cell Line, Exon, 1311 Genetics, Genetics, medicine, Humans, Exonic splicing silencer, Cells, Cultured, Mutation, Point mutation, Exons, MTRR, Ferredoxin-NADP Reductase, HEK293 Cells, 10036 Medical Clinic, Regulatory sequence, RNA splicing, RNA, Homocystinuria, RNA Splice Sites

وصف الملف: application/pdf; Nucl. Acids Res.-2015-Palhais-4627-39.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc5593c4df1086ed2ec9da4f833a3270
http://doc.rero.ch/record/292780/files/gkv275.pdf

المؤلفون: Anne Lanjuin, William B. Mair, Brendan D. Manning, Caroline Heintz, Caroline C. Escoubas, Gitte Hoffmann Bruun, Gerta Hoxhaj, Carlos G. Silva-García, Thomas Koed Doktor, Yue Zhang, Ianessa Morantte, Sneha Dutta, Heather J. Weir, Brage S. Andresen

المصدر: Heintz, C, Doktor, T K, Lanjuin, A, Escoubas, C C, Zhang, Y, Weir, H J, Dutta, S, Silva-García, C G, Bruun, G H, Morantte, I, Hoxhaj, G, Manning, B D, Andresen, B S & Mair, W B 2017, ' Correction: Corrigendum: Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans ', Nature, vol. 547, no. 7664, pp. 476 . https://doi.org/10.1038/nature23313

مصطلحات موضوعية: 0301 basic medicine, Genetics, 03 medical and health sciences, Splicing factor, 030104 developmental biology, Multidisciplinary, Published Erratum, media_common.quotation_subject, Longevity, Biology, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83555e39adf9e3fe159274aae908d480
https://portal.findresearcher.sdu.dk/da/publications/8a46cdde-5f19-4538-b380-d05e637ea688

المؤلفون: Gitte Hoffmann Bruun, Adrian R. Krainer, Anna Wieckowska, Henriette Skovgaard Andersen, Ying Hsiu Liu, Sabrina Brøner, Brage S. Andresen, Thomas Koed Doktor, Yimin Hua, Maja Dembic

المصدر: Doktor, T K, Hua, Y, Andersen, H S, Brøner, S, Liu, Y H, Wieckowska, A, Dembic, M, Bruun, G H, Krainer, A R & Andresen, B S 2017, ' RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns ', Nucleic Acids Research, vol. 45, no. 1 . https://doi.org/10.1093/nar/gkw731
Nucleic Acids Research

مصطلحات موضوعية: Male, 0301 basic medicine, RNA Splicing, Biology, Muscular Atrophy, Spinal, Mice, 03 medical and health sciences, Genetics, medicine, Animals, Humans, snRNP, RNA, Messenger, Ribonucleoprotein, Motor Neurons, Sequence Analysis, RNA, Intron, RNA, Survival of motor neuron, Spinal muscular atrophy, Oligonucleotides, Antisense, Ribonucleoproteins, Small Nuclear, medicine.disease, SMA, Survival of Motor Neuron 1 Protein, Molecular biology, Introns, Survival of Motor Neuron 2 Protein, Disease Models, Animal, 030104 developmental biology, Spinal Cord, nervous system, RNA splicing, Calcium, Female, Calcium Channels, HeLa Cells

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1602d31d000fd9e501155d5b724ecb3
https://findresearcher.sdu.dk:8443/ws/files/121342153/RNA_sequencing_of_a_mouse_model_of_Spinal_Muscular_Atrophy_reveals_tissue_wide_changes_in_splicing_of_U12_dependent_introns.pdf