المؤلفون: Ainhoa Martínez-Pizarro, Maja Dembic, Belén Pérez, Brage S Andresen, Lourdes R Desviat

المصدر: PLoS Genetics, Vol 14, Iss 4, p e1007360 (2018)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5933811?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/d17d627fd2f7476eac78b77d9b73921e

المؤلفون: Anne-Mette Hartung, Jeff Swensen, Inaki E Uriz, Morten Lapin, Karen Kristjansdottir, Ulrika S S Petersen, Jeanne Mari V Bang, Barbara Guerra, Henriette Skovgaard Andersen, Steven F Dobrowolski, John C Carey, Ping Yu, Cecily Vaughn, Amy Calhoun, Martin R Larsen, Lars Dyrskjøt, David A Stevenson, Brage S Andresen

المصدر: PLoS Genetics, Vol 12, Iss 5, p e1006039 (2016)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4873146?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/1e346ab8d30947b8a0549231e917af6c

المؤلفون: Trine V. Larsen, Christoffer T. Maansson, Tina F. Daugaard, Brage S. Andresen, Boe S. Sorensen, Anders L. Nielsen

المصدر: Cells, Vol 12, Iss 24, p 2844 (2023)

مصطلحات موضوعية: immunotherapy, lung cancer, PD-L1, splicing, IFN-γ, CDK12, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/24/2844; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/8b598cdcff564ab383c64d7315497334

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: Barbara Guerra, Maja Dembic, Mohammad A. Siddiqui, Isabel Dominguez, Paolo Ceppi, Brage S. Andresen

المصدر: Cellular Physiology and Biochemistry, Vol 54, Iss 6, Pp 1177-1198 (2020)

مصطلحات موضوعية: Physiology, QP1-981, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: https://www.cellphysiolbiochem.com/Articles/000308/; https://doaj.org/toc/1015-8987

URL الوصول: https://doaj.org/article/c120bb2aa4184d4aa5daa39500c27a9d

المؤلفون: Mohammad Aarif Siddiqui, Barbara Guerra, Maja Dembic, Paolo Ceppi, Isabel Dominguez, Brage S. Andresen

المصدر: Cellular Physiology and Biochemistry, Vol 54, Iss 6, Pp 1177-1198 (2020)
Guerra, B, Dembic, M, Siddiqui, M A, Dominguez, I, Ceppi, P & Andresen, B S 2020, ' Down-regulation of CK2α leads to up-regulation of the cyclin-dependent kinase inhibitor p27KIP1 in conditions unfavorable for the growth of myoblast cells ', Cellular Physiology and Biochemistry, vol. 54, no. 6, pp. 1177-1198 . https://doi.org/10.33594/000000308

مصطلحات موضوعية: 0301 basic medicine, biology, lcsh:QP1-981, Physiology, Cell growth, Kinase, Chemistry, lcsh:Physiology, Cell biology, lcsh:Biochemistry, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Cyclin-dependent kinase, Cell culture, 030220 oncology & carcinogenesis, biology.protein, lcsh:QD415-436, CDKN1B, Ck2α, Cell cycle progression, p27KIP1, Dyrk1B, AMPK, E2F, Transcription factor, Cyclin

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3faac6ea035c772464b1938725783e4d
https://www.cellphysiolbiochem.com/Articles/000308/

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: Ulrika S. S. Petersen, Brage S. Andresen, Thomas Koed Doktor

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: deep intronic sequence variants, pseudoexon, Genome, Human, In silico, RNA Splicing, Wild type, RNA sequencing, Computational biology, Exons, Biology, Introns, aberrant splicing, Exon, human genome, pre-mRNA splicing, RNA splicing, Genetics, Consensus sequence, Humans, splice, Human genome, RNA Splice Sites, RNA, Messenger, Genetics (clinical), Sequence (medicine)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ed010790b431d0ccbd12b9d862a58e0
https://pubmed.ncbi.nlm.nih.gov/34837434

المؤلفون: Marie Bækvad-Hansen, Flemming Wibrand, Rikke Katrine Jentoft Olsen, David M. Hougaard, Kristin Skogstrand, Allan M. Lund, Morten Duno, Niels Gregersen, Brage S. Andresen

المصدر: International Journal of Neonatal Screening, Vol 7, Iss 50, p 50 (2021)
International Journal of Neonatal Screening
Lund, A M, Wibrand, F, Skogstrand, K, Bækvad-Hansen, M, Gregersen, N, Andresen, B S, Hougaard, D M, Dunø, M & Olsen, R K J 2021, ' Use of molecular genetic analyses in danish routine newborn screening ', International Journal of Neonatal Screening, vol. 7, no. 3, 50 . https://doi.org/10.3390/IJNS7030050
Volume 7
Issue 3

مصطلحات موضوعية: Newborn screening, 0301 basic medicine, Tandem mass spectrometry, Computer science, Population, Computational biology, 030105 genetics & heredity, second-tier test, Pediatrics, Article, RJ1-570, 03 medical and health sciences, 0302 clinical medicine, Immunology and Microbiology (miscellaneous), Targeted ngs, Next generation sequencing, tandem mass spectrometry, neonatal screening, education, Therapeutic strategy, next generation sequencing, First-tier test, education.field_of_study, newborn screening, Molecular genetic testing, Obstetrics and Gynecology, food and beverages, Second-tier test, Biomarker (cell), Workflow, first-tier test, Pediatrics, Perinatology and Child Health, embryonic structures, False positive rate, Neonatal screening, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::028e16b2c4c83805efa15bcf63e1a9ad
https://www.mdpi.com/2409-515X/7/3/50

المؤلفون: Beverly Oberlander, Katherine A. Rauen, Christopher C. Gibson, Beth Stronach, John G. Albeck, Frank McCormick, William Timmer, Erin Hefner, William Y. C. Huang, Michelle Ellis, Edward C. Stites, Lisa Schoyer, Stanislav Y. Shvartsman, Ethan O. Perlstein, Suma P. Shankar, Martin McMahon, Philip J.S. Stork, Erika Yeh, Karen W. Gripp, Marc Therrien, Bruce D. Gelb, Annette Schenck, David A. Stevenson, Leslie Rogers, Lisa Schill, Cheng Sun, Bronwyn Kerr, Hélène Cavé, Brigitte C. Widemann, Corinne M. Linardic, Maxim Itkin, Steven M Fruchtman, Martin Zenker, Erik M. Ullian, Brage S. Andresen, Nancy Ratner, Giuseppe Zampino

المصدر: American Journal of Medical Genetics Part A. 176:2924-2929

مصطلحات موضوعية: 0301 basic medicine, Legius syndrome, MAPK/ERK pathway, business.industry, Cancer, medicine.disease, Bioinformatics, medicine.disease_cause, Phenotype, Germline, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Costello syndrome, 030220 oncology & carcinogenesis, Genetics, medicine, Noonan syndrome, Carcinogenesis, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4c9efc4ac4581e8dcdbb0bb1fa168b24
https://doi.org/10.1002/ajmg.a.40632