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1
المؤلفون: Thomassen, Mads, Mesman, Romy L.S., Hansen, Thomas V.O., Menendez, Mireia, Rossing, Maria, Esteban-Sánchez, Ada, Tudini, Emma, Törngren, Therese, Parsons, Michael T., Pedersen, Inge S., Teo, Soo H., Kruse, Torben A., Møller, Pål, Borg, Åke, Jensen, Uffe B., Christensen, Lise L., Singer, Christian F., Muhr, Daniela, Santamarina, Marta, Brandao, Rita, Andresen, Brage S., Feng, Bing Jian, Canson, Daffodil, Richardson, Marcy E., Karam, Rachid, Pesaran, Tina, LaDuca, Holly, Conner, Blair R., Abualkheir, Nelly, Hoang, Lily, Calléja, Fabienne M.G.R., Andrews, Lesley, James, Paul A., Bunyan, Dave, Hamblett, Amanda, Radice, Paolo, Goldgar, David E., Walker, Logan C., Engel, Christoph, Claes, Kathleen B.M., Macháčková, Eva, Baralle, Diana, Viel, Alessandra, Wappenschmidt, Barbara, Lazaro, Conxi, Vega, Ana, Vreeswijk, Maaike P.G., de la Hoya, Miguel, Spurdle, Amanda B.
المصدر: Human Mutation. 43(12):1921-1944
مصطلحات موضوعية: ACMG/AMP classification, BRCA2, dPCR, functional analysis, quantitation, splicing, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics
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2Academic Journal
المؤلفون: Holm, Lise L, Doktor, Thomas K, Flugt, Katharina K, Petersen, Ulrika S S, Petersen, Rikke, Andresen, Brage S
المصدر: Holm , L L , Doktor , T K , Flugt , K K , Petersen , U S S , Petersen , R & Andresen , B S 2024 , ' All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing ' , Nucleic Acids Research , vol. 52 , no. 8 , pp. 4588-4603 . https://doi.org/10.1093/nar/gkae077
مصطلحات موضوعية: Exons/genetics, Humans, Mutation, RNA Splicing, RNA Splice Sites
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Guerra, Barbara, Jurcic, Kristina, van der Poel, Rachelle, Cousineau, Samantha Lynn, Doktor, Thomas K., Buchwald, Laura M., Roffey, Scott E., Lindegaard, Caroline A., Ferrer, Anna Z., Siddiqui, Mohammad A., Gyenis, Laszlo, Andresen, Brage S., Litchfield, David W.
المصدر: Cancer Cell International; 12/27/2024, Vol. 24 Issue 1, p1-22, 22p
مصطلحات موضوعية: PROTEIN kinase CK2, MONOUNSATURATED fatty acids, LIFE sciences, UNFOLDED protein response, MEDICAL sciences
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4Academic Journal
المؤلفون: Rauen, Katherine A, Schoyer, Lisa, Schill, Lisa, Stronach, Beth, Albeck, John, Andresen, Brage S, Cavé, Hélène, Ellis, Michelle, Fruchtman, Steven M, Gelb, Bruce D, Gibson, Christopher C, Gripp, Karen, Hefner, Erin, Huang, William YC, Itkin, Maxim, Kerr, Bronwyn, Linardic, Corinne M, McMahon, Martin, Oberlander, Beverly, Perlstein, Ethan, Ratner, Nancy, Rogers, Leslie, Schenck, Annette, Shankar, Suma, Shvartsman, Stanislav, Stevenson, David A, Stites, Edward C, Stork, Philip JS, Sun, Cheng, Therrien, Marc, Ullian, Erik M, Widemann, Brigitte C, Yeh, Erika, Zampino, Giuseppe, Zenker, Martin, Timmer, William, McCormick, Frank
المصدر: American Journal of Medical Genetics Part A. 176(12)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Congenital Structural Anomalies, Pediatric, Genetics, Cancer, 2.1 Biological and endogenous factors, Animals, Gene Expression Regulation, Genetic Association Studies, Genetic Predisposition to Disease, Human Development, Humans, Models, Biological, Molecular Targeted Therapy, Neoplasms, Organogenesis, Signal Transduction, Syndrome, ras Proteins, cardio-facio-cutaneous syndrome, clinical trial, Costello syndrome, Legius syndrome, neurofibromatosis type 1, Noonan syndrome, RAS/MAPK, RASopathies, signal transduction pathway, therapy, Clinical Sciences, Clinical sciences
وصف الملف: application/pdf
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5Academic Journal
المؤلفون: Larsen, Trine V., Maansson, Christoffer T., Daugaard, Tina F., Andresen, Brage S., Sorensen, Boe S., Nielsen, Anders L.
المصدر: Larsen , T V , Maansson , C T , Daugaard , T F , Andresen , B S , Sorensen , B S & Nielsen , A L 2023 , ' Trans-Regulation of Alternative PD-L1 mRNA Processing by CDK12 in Non-Small-Cell Lung Cancer Cells ' , Cells , vol. 12 , no. 24 , 2844 . https://doi.org/10.3390/cells12242844
مصطلحات موضوعية: CDK12, IFN-γ, immunotherapy, lung cancer, PD-L1, splicing
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6Academic Journal
المؤلفون: Martínez-Pizarro, Ainhoa, Dembic, Maja, Pérez, Belén, Andresen, Brage S., Desviat, Lourdes R.
المساهمون: UAM. Departamento de Biología Molecular
مصطلحات موضوعية: Base Sequence, Computer Simulation, Exons, Hep G2 Cells, Humans, Introns, Mutation, Phenylalanine Hydroxylase, Phenylketonurias, Ribonucleoprotein, U1 Small Nuclear, RNA Splice Sites, RNA Splicing, RNA, Small Nuclear, Biología y Biomedicina / Biología
وصف الملف: application/pdf
Relation: PLoS Genetics; https://doi.org/10.1371/journal.pgen.1007360; PLOS Genetics 14.4 (2018): e1007360; 1553-7390 (print); 1553-7404 (online); http://hdl.handle.net/10486/709212; 17; 14
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7Academic Journal
المؤلفون: Stevenson, David A, Schill, Lisa, Schoyer, Lisa, Andresen, Brage S, Bakker, Annette, Bayrak-Toydemir, Pinar, Burkitt-Wright, Emma, Chatfield, Kathryn, Elefteriou, Florent, Elgersma, Ype, Fisher, Michael J, Franz, David, Gelb, Bruce D, Goriely, Anne, Gripp, Karen W, Hardan, Antonio Y, Keppler-Noreuil, Kim M, Kerr, Bronwyn, Korf, Bruce, Leoni, Chiara, McCormick, Frank, Plotkin, Scott R, Rauen, Katherine A, Reilly, Karlyne, Roberts, Amy, Sandler, Abby, Siegel, Dawn, Walsh, Karin, Widemann, Brigitte C
المصدر: American Journal of Medical Genetics Part A. 170(8)
مصطلحات موضوعية: Biological Sciences, Genetics, Congenital Structural Anomalies, Neurosciences, Rare Diseases, Pediatric, Congenital, Capital Financing, Clinical Trials as Topic, Family, Genetic Diseases, Inborn, Humans, Intersectoral Collaboration, Mitogen-Activated Protein Kinases, Signal Transduction, ras Proteins, RASopathy, Ras, MAPK, cancer, rare disorders, clinical trials, experimental models, Ras/MAPK, Clinical Sciences, Clinical sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/42d8r4pn
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8Academic Journal
المؤلفون: Martínez-Pizarro, Ainhoa, Leal, Fátima, Holm, Lise Lolle, Doktor, Thomas K, Petersen, Ulrika S S, Bueno, María, Thöny, Beat, Pérez, Belén, Andresen, Brage S, Desviat, Lourdes R
المصدر: Martínez-Pizarro, Ainhoa; Leal, Fátima; Holm, Lise Lolle; Doktor, Thomas K; Petersen, Ulrika S S; Bueno, María; Thöny, Beat; Pérez, Belén; Andresen, Brage S; Desviat, Lourdes R (2022). Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene. Nucleic Acid Therapeutics, 32(5):378-390.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health
وصف الملف: application/pdf
Relation: https://www.zora.uzh.ch/id/eprint/228801/1/nat.2021.0066.pdf; info:pmid/35833796; urn:issn:2159-3337
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9Academic Journal
المؤلفون: Petersen, Ulrika S.S., Doktor, Thomas K., Andresen, Brage S.
المصدر: Petersen , U S S , Doktor , T K & Andresen , B S 2022 , ' Pseudoexon activation in disease by non-splice site deep intronic sequence variation — wild type pseudoexons constitute high-risk sites in the human genome ' , Human Mutation , vol. 43 , no. 2 , pp. 103-127 . https://doi.org/10.1002/humu.24306
مصطلحات موضوعية: aberrant splicing, deep intronic sequence variants, human genome, pre-mRNA splicing, pseudoexon, RNA sequencing
وصف الملف: application/pdf
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10Academic Journal
المؤلفون: Varzari, Alexander, Deyneko, Igor V., Bruun, Gitte Hoffmann, Dembic, Maja, Hofmann, Winfried, Cebotari, Victor M., Ginda, Sergei S., Andresen, Brage S., Illig, Thomas
المصدر: Varzari , A , Deyneko , I V , Bruun , G H , Dembic , M , Hofmann , W , Cebotari , V M , Ginda , S S , Andresen , B S & Illig , T 2022 , ' Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing ' , Frontiers in Genetics , vol. 13 , 969895 . https://doi.org/10.3389/fgene.2022.969895
مصطلحات موضوعية: BCG-itis, candidate genes approach, disseminated tuberculosis, oligogenic inheritance, pre-mRNA splicing, primary immunodeficiency (PID) disorders, trio analysis, whole-exome sequencing (WES)
وصف الملف: application/pdf
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11Academic Journal
المؤلفون: Guerra, Barbara, Doktor, Thomas K., Frederiksen, Sabrina B., Somyajit, Kumar, Andresen, Brage S.
المساهمون: Novo Nordisk Fonden
المصدر: Cellular and Molecular Life Sciences ; volume 79, issue 6 ; ISSN 1420-682X 1420-9071
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12Academic Journal
المؤلفون: Martínez-Pizarro, Ainhoa, Álvarez, Mar, Dembic, Maja, Lindegaard, Caroline A., Castro, Margarita, Richard, Eva, Andresen, Brage S., Desviat, Lourdes R.
المصدر: Nucleic Acid Therapeutics; Jun2024, Vol. 34 Issue 3, p134-142, 9p
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13Academic Journal
المؤلفون: Frederiksen, Sabrina B, Holm, Lise L, Larsen, Martin R, Doktor, Thomas K, Andersen, Henriette S, Hastings, Michelle L, Hua, Yimin, Krainer, Adrian R, Andresen, Brage S
المصدر: 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 2021 , ' Identification of SRSF10 as a regulator of SMN2 ISS-N1 ' , Human Mutation , vol. 42 , no. 3 , pp. 246-260 . https://doi.org/10.1002/humu.24149
مصطلحات موضوعية: SMN2, SRSF10, alternative splicing, antisense oligonucleotides, spinal muscular atrophy
وصف الملف: application/pdf
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14Electronic Resource
المؤلفون: Desviat, Lourdes R., Martínez-Pizarro, Ainhoa, Lucas, José Javier, Picó, Sara, Andresen, Brage S.
مصطلحات الفهرس: solicitud de patente
URL:
http://hdl.handle.net/10261/342776
EP4163373 A1 (2023-04-12)
Sí -
15Academic Journal
المؤلفون: Grønskov, Karen, Jespersgaard, Cathrine, Bruun, Gitte Hoffmann, Harris, Pernille, Brøndum-Nielsen, Karen, Andresen, Brage S, Rosenberg, Thomas
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
وصف الملف: application/pdf
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16Academic Journal
المؤلفون: Dembic, Maja, Andersen, Henriette S, Bastin, Jean, Doktor, Thomas K, Corydon, Thomas J, Sass, Jörn Oliver, Costa, Alexandra Lopes, Djouadi, Fatima, Andresen, Brage S
المصدر: Dembic , M , Andersen , H S , Bastin , J , Doktor , T K , Corydon , T J , Sass , J O , Costa , A L , Djouadi , F & Andresen , B S 2019 , ' Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease ' , Molecular Genetics and Metabolism , vol. 126 , no. 1 , pp. 64-76 . https://doi.org/10.1016/j.ymgme.2018.10.004
مصطلحات موضوعية: ASPA, Canavan disease, Fatty acid oxidation, RNA-seq, Sirtuin 1, alternative splicing, p53, resveratrol
وصف الملف: application/pdf
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17Academic Journal
المؤلفون: Schaefer, Susanne, Doktor, Thomas K, Frederiksen, Sabrina B, Chea, Kathleen, Hlavacova, Mirka, Bruun, Gitte H, Rabjerg, Maj, Andresen, Brage S, Dominguez, Isabel, Guerra, Barbara
المصدر: 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
وصف الملف: application/pdf
الاتاحة: https://vbn.aau.dk/da/publications/0a0517d3-e88b-46da-9462-d257ae8747a8
https://doi.org/10.1038/s41598-019-51056-5
https://vbn.aau.dk/ws/files/312888791/Schaefer_et_al_2019_Down_regulation_of_CK2_correlates_with_decreased_expression_levels_of_DNA_replication_minichromosome_maintenance_protein_complex_MCM_genes.pdf
http://www.scopus.com/inward/record.url?scp=85073102702&partnerID=8YFLogxK -
18Patent
المؤلفون: Desviat, Lourdes R., Martínez-Pizarro, Ainhoa, Lucas, José Javier, Picó, Sara, Andresen, Brage S.
وصف الملف: application/pdf
Relation: EP4163373 A1 (2023-04-12); Sí; WO2023/057575 A1; http://hdl.handle.net/10261/342776; PCT/EP2022/077822
الاتاحة: http://hdl.handle.net/10261/342776
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19Patent
المؤلفون: Desviat, Lourdes R., Martínez-Pizarro, Ainhoa, Lucas, José Javier, Picó, Sara, Andresen, Brage S.
وصف الملف: application/pdf
Relation: WO2023057575 A1 (2023-04-13); Sí; EP4163373 A1; http://hdl.handle.net/10261/342781
الاتاحة: http://hdl.handle.net/10261/342781
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20Academic Journal
المؤلفون: Bruun, Gitte H, Bang, Jeanne Mv, Christensen, Lise L, Brøner, Sabrina, Petersen, Ulrika Ss, Guerra, Barbara, Grønning, Alexander Gb, Doktor, Thomas K, Andresen, Brage S
المصدر: 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
وصف الملف: application/pdf
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