Thomas Koed Doktor

Søgeresultater

• 2023

  Genome-wide epigenetic and mRNA-expression profiling followed by CRISPR/Cas9-mediated gene-disruptions corroborate the MIR141/MIR200C-ZEB1/ZEB2-FGFR1 axis in acquired EMT-associated EGFR TKI-resistance in NSCLC cells

  Vad-Nielsen, J., Staunstrup, N. H., Kjeldsen, M. L., Dybdal, N., Flandin, G., De Stradis, C., Daugaard, T. F., Vilsbøll-Larsen, T., Maansson, C. T., Doktor, T. K., Sorensen, B. S. & Nielsen, A. L., 31. jan. 2023, I: Translational Lung Cancer Research. 12, 1, s. 42-65

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  • Clustered Regularly Interspaced Short Palindromic Repeats 100%
  • Epithelial-Mesenchymal Transition 90%
  • ErbB Receptors 83%
  • Protein-Tyrosine Kinases 79%
  • Non-Small Cell Lung Carcinoma 77%
  1 Downloads (Pure)
• 2022

  Antisense oligonucleotide rescue of deep-intronic variants activating pseudoexons in the 6-pyruvoyl-tetrahydropterin synthase gene

  Martínez-Pizarro, A., Leal, F., Holm, L. L., Doktor, T. K., Petersen, U. S. S., Bueno, M., Thöny, B., Pérez, B., Andresen, B. S. & Desviat, L. R., okt. 2022, I: Nucleic Acid Therapeutics. 32, 5, s. 378-390

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  • 6-pyruvoyltetrahydropterin synthase 100%
  • Antisense Oligonucleotide 75%
  • Antisense Oligonucleotides 62%
  • RNA Splice Sites 50%
  • Phenylketonurias 34%
  25 Downloads (Pure)

• Essential role of CK2α for the interaction and stability of replication fork factors during DNA synthesis and activation of the S-phase checkpoint

  Guerra, B., Doktor, T. K., Frederiksen, S. B., Somyajit, K. & Andresen, B. S., jun. 2022, I: Cellular and Molecular Life Sciences. 79, 6, 339.

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  • S Phase Cell Cycle Checkpoints 100%
  • Ataxia Telangiectasia 81%
  • Fibroblast Growth Factors 77%
  • DNA Replication 64%
  • Casein Kinase II 57%
  32 Downloads (Pure)

• Pseudoexon activation in disease by non-splice site deep intronic sequence variation — wild type pseudoexons constitute high-risk sites in the human genome

  Petersen, U. S. S., Doktor, T. K. & Andresen, B. S., feb. 2022, I: Human Mutation. 43, 2, s. 103-127

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  • Human Genome 100%
  • Nonsense Mediated mRNA Decay 47%
  • RNA Splicing 42%
  • Consensus Sequence 36%
  • Computer Simulation 30%
  65 Downloads (Pure)

• VEGFA-targeting miR-agshRNAs combine efficacy with specificity and safety for retinal gene therapy

  Alsing, S., Doktor, T. K., Askou, A. L., Jensen, E. G., Ahmadov, U., Kristensen, L. S., Andresen, B. S., Aagaard, L. & Corydon, T. J., 14. jun. 2022, I: Molecular Therapy - Nucleic Acids. 28, s. 58-76 19 s.

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  • Small Interfering RNA 100%
  • MicroRNA 88%
  • Retinal 82%
  • Genetic Therapy 66%
  • Safety 61%
  23 Downloads (Pure)

• Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers

  Holm, L. L., Doktor, T. K., Hansen, M. B., Petersen, U. S. S. & Andresen, B. S., feb. 2022, I: Human Mutation. 43, 2, s. 253-265

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  • Exons 100%
  • Mutation 42%
  • Introns 10%
  • Computer Simulation 10%
  • Single Nucleotide Polymorphism 9%
  40 Downloads (Pure)
• 2021

  Identification of SRSF10 as a regulator of SMN2 ISS-N1

  Frederiksen, S. B., Holm, L. L., Larsen, M. R., Doktor, T. K., Andersen, H. S., Hastings, M. L., Hua, Y., Krainer, A. R. & Andresen, B. S., mar. 2021, I: Human Mutation. 42, 3, s. 246-260

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  • RNA Splicing Factors 100%
  • Protein Isoforms 80%
  • hnRNP A2 47%
  • Heterogeneous Nuclear Ribonucleoprotein A1 40%
  • Transcriptional Silencer Elements 38%
  29 Downloads (Pure)
• 2020

  DeepCLIP: predicting the effect of mutations on protein-RNA binding with deep learning

  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., 27. jul. 2020, I: Nucleic Acids Research. 48, 13, s. 7099-7118

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  • Deep Learning 100%
  • RNA-Binding Proteins 84%
  • Mutation 40%
  • Nucleotides 23%
  • Antisense Oligonucleotides 16%
  63 Downloads (Pure)

• Tissue-resident macrophages in omentum promote metastatic spread of ovarian cancer

  Etzerodt, A., Moulin, M., Doktor, T. K., Delfini, M., Mossadegh-Keller, N., Bajenoff, M., Sieweke, M. H., Moestrup, S. K., Auphan-Anezin, N. & Lawrence, T., 6. apr. 2020, I: The Journal of Experimental Medicine. 217, 4, e20191869.

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  • Omentum 100%
  • Ovarian Neoplasms 73%
  • Macrophages 56%
  • Neoplasms 22%
  • Neoplasm Metastasis 14%
  95 Downloads (Pure)
• 2019

  Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genes

  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, I: Scientific Reports. 9, 1, 16 s., 14581.

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  • Minichromosome Maintenance Proteins 100%
  • DNA Replication 62%
  • Casein Kinase II 55%
  • Cell Cycle 49%
  • Down-Regulation 43%
  77 Downloads (Pure)

• Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease

  Dembic, M., Andersen, H. S., Bastin, J., Doktor, T. K., Corydon, T. J., Sass, J. O., Costa, A. L., Djouadi, F. & Andresen, B. S., jan. 2019, I: Molecular Genetics and Metabolism. 126, 1, s. 64-76

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  • Canavan Disease 100%
  • Resveratrol 74%
  • High-Throughput Nucleotide Sequencing 56%
  • RNA 40%
  • Sirtuin 1 24%
  193 Downloads (Pure)
• 2018

  Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

  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., 6. sep. 2018, I: Nucleic Acids Research. 46, 15, s. 7938-7952

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  • Familial Dysautonomia 100%
  • Heterogeneous Nuclear Ribonucleoprotein A1 86%
  • Exons 50%
  • RNA Splice Sites 18%
  • Binding Sites 11%
  131 Downloads (Pure)
• 2017

  DFI-seq identification of environment-specific gene expression in uropathogenic Escherichia coli

  Madelung, M., Kronborg, T., Doktor, T. K., Struve, C., Krogfelt, K. A. & Møller-Jensen, J., 2017, I: BMC Microbiology. 17, 1, 19 s., 99.

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  • Uropathogenic Escherichia coli 100%
  • Fluorescence 57%
  • Gene Expression 42%
  • Genes 28%
  • Urinary Bladder 28%
  214 Downloads (Pure)

• RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

  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., jan. 2017, I: Nucleic Acids Research. 45, 1, s. 395-416

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  • Spinal Muscular Atrophy 100%
  • RNA Sequence Analysis 86%
  • Introns 74%
  • Motor Neurons 46%
  • Small Nuclear Ribonucleoproteins 28%
  215 Downloads (Pure)

• Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans

  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, I: Nature. 541, 7635, s. 102-106

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  • RNA Splicing Factors 100%
  • Mechanistic Target of Rapamycin Complex 1 94%
  • RNA Precursors 85%
  • Longevity 67%
  • Healthy Aging 62%
  270 Downloads (Pure)
• 2016

  Global identification of hnRNP A1 binding sites for SSO-based splicing modulation

  Bruun, G. H., Doktor, T. K., Borch-Jensen, J., Masuda, A., Krainer, A. R., Ohno, K. & Andresen, B. S., 7. jul. 2016, I: BMC Biology. 14, 1, s. 54

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  • Heterogeneous Nuclear Ribonucleoprotein A1 100%
  • Oligonucleotides 63%
  • oligonucleotides 62%
  • mutation 60%
  • exons 54%
  343 Downloads (Pure)

• The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

  Palhais, B., Dembic, M., Sabaratnam, R., Nielsen, K. S., Doktor, T. K., Bruun, G. H. & Andresen, B. S., 27. aug. 2016, I: Molecular Genetics and Metabolism. 119, 3, s. 258-269

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  • Heterogeneous-Nuclear Ribonucleoprotein Group A-B 100%
  • Fabry Disease 77%
  • RNA Splice Sites 71%
  • Mutation 31%
  • Oligonucleotides 29%
• 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

  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, I: Nucleic Acids Research. 43, 9, s. 4627-4639

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  Fil

  • Oligonucleotides 100%
  • Point Mutation 93%
  • Heterogeneous Nuclear Ribonucleoprotein A1 78%
  • Homocystinuria 71%
  • Mutation 53%
  390 Downloads (Pure)
• 2014

  Absence of an Intron Splicing Silencer in Porcine Smn1 Intron 7 Confers Immunity to the Exon Skipping Mutation in Human SMN2

  Doktor, T., Lisbeth, S., Andersen, H. S., Brøner, S., Kitewska, A., Sørensen, C. B. & Andresen, B. S., 3. jun. 2014, I: PLOS ONE. 9, 6, s. e98841 10 s., e98841 .

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  • Introns 100%
  • Exons 86%
  • Heterogeneous Nuclear Ribonucleoprotein A1 84%
  • Immunity 84%
  • Swine 82%

• The ETFDH c.158A>G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl-CoA Dehydrogenation Deficiency

  Olsen, R. K. J., Brøner, S., Sabaratnam, R., Doktor, T. K., Andersen, H. S., Bruun, G. H., Gahrn, B., Stenbroen, V., Olpin, S. E., Dobbie, A., Gregersen, N. & Andresen, B. S., 2014, I: Human Mutation. 35, 1, s. 86-95

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  • Acyl Coenzyme A 100%
  • Oxidoreductases 68%
  • Carrier Proteins 63%
  • Exons 62%
  • Heterogeneous-Nuclear Ribonucleoprotein Group F-H 56%
• 2013

  A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation

  Bruun, G. H., Doktor, T. K. & Andresen, B. S., 2013, I: Molecular Genetics and Metabolism. 110, 1-2, s. 122-128

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  • Fatty Acids 100%
  • Exons 97%
  • Fatty Acid 94%
  • Alleles 85%
  • Protein Splicing 57%
• 2012

  Global analysis of RNA-binding sites of CUGBP1 and MBNL1 reveals their preferential binding to 3’ UTRs and a new role for MBNL1 in mRNA decay

  Masuda, A., Andersen, H. S., Doktor, T., Okamoto, T., Ito, M., Andresen, B. S. & Ohno, K., 2012, I: Scientific Reports. 2, 209

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• 2011

  SMN2 exon 7 splicing is inhibited by binding of hnRNPA1 to a common ESS motif that spans the 3’ splice site.

  Doktor, T. K., Schröder, LD., Jensen, AV., Palmfeldt, J., Andersen, H. S., Gregersen, N. & Andresen, B. S., 2011, I: Human Mutation. 32, 2, s. 220-230

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• 2010

  The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

  Homolova, K., Zavadakova, P., Doktor, T. K., Schroeder, L. D., Kozich, V. & Andresen, B. S., 2010, I: Human Mutation. 31, 4, s. 437-444

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• The PAH c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer

  Dobrowolski, SF., Andersen, H. S., Doktor, T. K. & Andresen, B. S., 2010, I: Molecular Genetics and Metabolism. 100, s. 316–323

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• The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer

  Dobrowolski, S. F., Andersen, H. S., Doktor, T. K. & Andresen, B. S., aug. 2010, I: Molecular Genetics and Metabolism. 100, 4, s. 316-323

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  • Phenylalanine Hydroxylase 100%
  • Phenylalanine 67%
  • Exons 37%
  • sapropterin 31%
  • Messenger RNA 25%
• 2007

  Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

  Nielsen, K. B., Sørensen, S., Cartegni, L., Corydon, T. J., Doktor, T. K., Schroeder, L. D., Reinert, L. S., Elpeleg, O., Krainer, A. R., Gregersen, N., Kjems, J. & Andresen, B. S., 2007, I: American Journal of Human Genetics. 80, 3, s. 416-432

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  • Acyl-CoA Dehydrogenase 100%
  • Silent Mutation 88%
  • Single Nucleotide Polymorphism 53%
  • Exons 53%
  • Immunity 52%