Zobrazeno 1 - 10
of 143
pro vyhledávání: '"Brage S. Andresen"'
Autor:
Trine V. Larsen, Christoffer T. Maansson, Tina F. Daugaard, Brage S. Andresen, Boe S. Sorensen, Anders L. Nielsen
Publikováno v:
Cells, Vol 12, Iss 24, p 2844 (2023)
Immunotherapy using checkpoint inhibitors targeting the interaction between PD-1 on T cells and PD-L1 on cancer cells has shown significant results in non-small-cell lung cancer (NSCLC). Not all patients respond to the therapy, and PD-L1 expression h
Externí odkaz:
https://doaj.org/article/8b598cdcff564ab383c64d7315497334
Autor:
Alexander Varzari, Igor V. Deyneko, Gitte Hoffmann Bruun, Maja Dembic, Winfried Hofmann, Victor M. Cebotari, Sergei S. Ginda, Brage S. Andresen, Thomas Illig
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Inborn errors of immunity are known to influence susceptibility to mycobacterial infections. The aim of this study was to characterize the genetic profile of nine patients with mycobacterial infections (eight with BCGitis and one with disseminated tu
Externí odkaz:
https://doaj.org/article/45a80c359357407798df86e0a462fdeb
Autor:
Barbara Guerra, Maja Dembic, Mohammad A. Siddiqui, Isabel Dominguez, Paolo Ceppi, Brage S. Andresen
Publikováno v:
Cellular Physiology and Biochemistry, Vol 54, Iss 6, Pp 1177-1198 (2020)
Externí odkaz:
https://doaj.org/article/c120bb2aa4184d4aa5daa39500c27a9d
Autor:
Simon E. Olpin, Shirley Clark, Jane Dalley, Brage S. Andresen, Joanne Croft, Camilla A. Scott, Aneal Khan, Richard J. Kirk, Rebecca Sparkes, Marisa Chard, Alicia Chan, Emma Glamuzina, Jean Bastin, Nigel J. Manning, Rodney J. Pollitt
Publikováno v:
International Journal of Neonatal Screening, Vol 3, Iss 1, p 2 (2017)
Very-long chain acyl-CoA dehydrogenase deficiency (VLCADD) is a clinically heterogeneous disorder with three major phenotypes: severe neonatal/infantile, milder childhood and late onset myopathic. VLCADD is genetically heterogeneous with numerous pat
Externí odkaz:
https://doaj.org/article/b8698ab65b934b559c33cf4ea396d746
Publikováno v:
PLoS Genetics, Vol 14, Iss 4, p e1007360 (2018)
Phenylketonuria (PKU), one of the most common inherited diseases of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene. Recently, PAH exon 11 was identified as a vulnerable exon due to a weak 3' splice site, wit
Externí odkaz:
https://doaj.org/article/d17d627fd2f7476eac78b77d9b73921e
Autor:
Mohammad Aarif Siddiqui, Barbara Guerra, Maja Dembic, Paolo Ceppi, Isabel Dominguez, Brage S. Andresen
Publikováno v:
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
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
BACKGROUND/AIMS: Compelling evidence indicates that CK2α, which is one of the two catalytic isoforms of protein kinase CK2, is required for cell viability and plays an important role in cell proliferation and differentiation. While much is known on
Autor:
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
We report two new 6-pyruvoyl-tetrahydropterin synthase splicing variants identified through genomic sequencing and transcript analysis in a patient with tetrahydrobiopterin deficiency, presenting with hyperphenylalaninemia and monoamine neurotransmit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a26cff279e476a23d1e4b9c9ae9508c
Publikováno v:
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
Accuracy of pre-mRNA splicing is crucial for normal gene expression. Complex regulation supports the spliceosomal distinction between authentic exons and the many seemingly functional splice sites delimiting pseudoexons. Pseudoexons are nonfunctional
Autor:
Marie Bækvad-Hansen, Flemming Wibrand, Rikke Katrine Jentoft Olsen, David M. Hougaard, Kristin Skogstrand, Allan M. Lund, Morten Duno, Niels Gregersen, Brage S. Andresen
Publikováno v:
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
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
Historically, the analyses used for newborn screening (NBS) were biochemical, but increasingly, molecular genetic analyses are being introduced in the workflow. We describe the application of molecular genetic analyses in the Danish NBS programme and
Autor:
Barbara, Guerra, Maja, Dembic, Mohammad A, Siddiqui, Isabel, Dominguez, Paolo, Ceppi, Brage S, Andresen
Publikováno v:
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology. 54(6)
Compelling evidence indicates that CK2α, which is one of the two catalytic isoforms of protein kinase CK2, is required for cell viability and plays an important role in cell proliferation and differentiation. While much is known on CK2 in the contex