Search Results - "Brage, S"

Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome by Petersen, Ulrika S. S., Doktor, Thomas K., Andresen, Brage S.

“…Accuracy of pre‐messenger RNA (pre‐mRNA) splicing is crucial for normal gene expression. Complex regulation supports the spliceosomal distinction between…”
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Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans by Heintz, Caroline, Doktor, Thomas K., Lanjuin, Anne, Escoubas, Caroline C., Zhang, Yue, Weir, Heather J., Dutta, Sneha, Silva-García, Carlos Giovanni, Bruun, Gitte H., Morantte, Ianessa, Hoxhaj, Gerta, Manning, Brendan D., Andresen, Brage S., Mair, William B.

“…Precursor mRNA splicing homeostasis is a biomarker and predictor of life expectancy in Caenorhabditis elegans and defects in global pre-mRNA splicing…”
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All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing by Holm, Lise L, Doktor, Thomas K, Flugt, Katharina K, Petersen, Ulrika S S, Petersen, Rikke, Andresen, Brage S

“…It is now widely accepted that aberrant splicing of constitutive exons is often caused by mutations affecting cis-acting splicing regulatory elements (SREs),…”
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Proteomics analysis of melanoma metastases: association between S100A13 expression and chemotherapy resistance by Azimi, A, Pernemalm, M, Frostvik Stolt, M, Hansson, J, Lehtiö, J, Egyházi Brage, S, Hertzman Johansson, C

“…Background: Disseminated cutaneous malignant melanoma (CMM) is commonly unresponsive to standard chemotherapies, and there are as yet no predictive markers of…”
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Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site by Martínez-Pizarro, Ainhoa, Dembic, Maja, Pérez, Belén, Andresen, Brage S, Desviat, Lourdes R

“…Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene…”
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descriptive epidemiology of accelerometer-measured physical activity in older adults by Berkemeyer, K, Wijndaele, K, White, T, Cooper, A. J. M, Luben, R, Westgate, K, Griffin, S. J, Khaw, K. T, Wareham, N. J, Brage, S

“…BACKGROUND: Objectively measured physical activity between older individuals and between populations has been poorly described. We aimed to describe and…”
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Essential role of CK2α for the interaction and stability of replication fork factors during DNA synthesis and activation of the S-phase checkpoint by Guerra, Barbara, Doktor, Thomas K., Frederiksen, Sabrina B., Somyajit, Kumar, Andresen, Brage S.

“…The ataxia telangiectasia mutated and Rad3-related (ATR)-CHK1 pathway is the major signalling cascade activated in response to DNA replication stress. This…”
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Global identification of hnRNP A1 binding sites for SSO-based splicing modulation by Bruun, Gitte H, Doktor, Thomas K, Borch-Jensen, Jonas, Masuda, Akio, Krainer, Adrian R, Ohno, Kinji, Andresen, Brage S

“…Many pathogenic genetic variants have been shown to disrupt mRNA splicing. Besides splice mutations in the well-conserved splice sites, mutations in splicing…”
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Adiposity and grip strength as long-term predictors of objectively measured physical activity in 93 015 adults: the UK Biobank study by Kim, Y, White, T, Wijndaele, K, Sharp, S J, Wareham, N J, Brage, S

“…Background/Objectives: Fatness and fitness are associated with physical activity (PA) but less is known about the prospective associations of adiposity and…”
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VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria by Evans, Maureen, Andresen, Brage S., Nation, Judy, Boneh, Avihu

“…Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have…”
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A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1 by Grønskov, Karen, Jespersgaard, Cathrine, Bruun, Gitte Hoffmann, Harris, Pernille, Brøndum-Nielsen, Karen, Andresen, Brage S., Rosenberg, Thomas

“…Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder. Six genes are associated with autosomal recessive OCA ( TYR , OCA2 , TYRP1 , SLC45A2 ,…”
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Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers by Holm, Lise L., Doktor, Thomas K., Hansen, Michael B., Petersen, Ulrika S. S., Andresen, Brage S.

“…It is now widely accepted that aberrant splicing of constitutive exons is often caused by mutations affecting cis‐acting splicing regulatory elements, but…”
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The descriptive epidemiology of the diurnal profile of bouts and breaks in sedentary time in older English adults by Yerrakalva, D, Cooper, A J, Westgate, K, Khaw, K T, Wareham, N J, Brage, S, Griffin, S J, Wijndaele, K

“…High sedentary time is associated with adverse metabolic health outcomes and mortality in older adults. It has been suggested that breaking up sedentary time…”
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Molecular subtype and tumor characteristics of breast cancer metastases as assessed by gene expression significantly influence patient post-relapse survival by Tobin, N.P., Harrell, J.C., Lövrot, J., Egyhazi Brage, S., Frostvik Stolt, M., Carlsson, L., Einbeigi, Z., Linderholm, B., Loman, N., Malmberg, M., Walz, T., Fernö, M., Perou, C.M., Bergh, J., Hatschek, T., Lindström, L.S., Hatschek, Thomas, Fernö, Mårten, Lindström, Linda Sofie, Hedenfalk, Ingrid, Brandberg, Yvonne, Carstensen, John, Egyhazy, Suzanne, Stolt, Marianne Frostvik, Skoog, Lambert, Hellström, Mats, Maliniemi, Maarit, Svensson, Helene, Åström, Gunnar, Bergh, Jonas, Bjöhle, Judith, Lidbrink, Elisabet, Rotstein, Sam, Wallberg, Birgitta, Einbeigi, Zakaria, Carlsson, Per, Linderholm, Barbro, Walz, Thomas, Loman, Niklas, Malmström, Per, Söderberg, Martin, Malmberg, Martin, Carlsson, Lena, Umeå, Lindh, Birgitta, Sundqvist, Marie, Malmberg, Lena

“…We and others have recently shown that tumor characteristics are altered throughout tumor progression. These findings emphasize the need for re-examination of…”
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Cardiorespiratory fitness levels and associations with physical activity and body composition in young South African adults from Soweto by Prioreschi, A, Brage, S, Westgate, K, Norris, S A, Micklesfield, L K

“…This observational study aims to describe fitness, and objectively measured physical activity levels and patterns in 409 young black South African adults (aged…”
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Body weight control via protein kinase CK2: diet-induced obesity counteracted by pharmacological targeting by Buchwald, Laura M., Neess, Ditte, Hansen, Daniel, Doktor, Thomas K., Ramesh, Vignesh, Steffensen, Lasse B., Blagoev, Blagoy, Litchfield, David W., Andresen, Brage S., Ravnskjaer, Kim, Færgeman, Nils J., Guerra, Barbara

“…Protein kinase CK2 is a highly conserved enzyme implicated in the pathogenesis of various human illnesses including obesity. Despite compelling evidence for…”
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Independent associations of physical activity and cardiorespiratory fitness with metabolic risk factors in children: the European youth heart study by Ekelund, U, Anderssen, S. A, Froberg, K, Sardinha, L. B, Andersen, L. B, Brage, S

“…Aims/hypothesis High levels of cardiorespiratory fitness (CRF) and physical activity (PA) are associated with a favourable metabolic risk profile. However,…”
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Effect of glucocorticoids for the management of immune-related adverse events on outcome in melanoma patients treated with immunotherapy—a retrospective and biomarker study by Costa Svedman, F., Liapi, M., Månsson-Broberg, A., Chatzidionysiou, K., Egyhazi Brage, S.

“…Immune-related adverse events (IRAEs) during therapy with immune checkpoint inhibitors (ICIs) are common, and their management sometimes requires…”
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Efficient well placement optimization under uncertainty using a virtual drilling procedure by Kristoffersen, Brage S., Silva, Thiago L., Bellout, Mathias C., Berg, Carl Fredrik

“…An Automatic Well Planner (AWP) is used to efficiently adjust pre-determined well paths to honor near-well properties and increase overall production. AWP…”
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An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency by Mosegaard, Signe, Bruun, Gitte Hoffmann, Flyvbjerg, Karen Freund, Bliksrud, Yngve Thomas, Gregersen, Niels, Dembic, Maja, Annexstad, Ellen, Tangeraas, Trine, Olsen, Rikke Katrine Jentoft, Andresen, Brage S.

“…Vitamin B2, riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism, through its role…”
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