Gitte Hoffmann Bruun
Overview
Explore the profile of Gitte Hoffmann Bruun including associated specialties, affiliations and a list of published articles.
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Articles
10
Citations
308
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Recent Articles
1.
Varzari A, Deyneko I, Bruun G, Dembic M, Hofmann W, Cebotari V, et al.
Front Genet
. 2022 Nov;
13:969895.
PMID: 36338958
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...
2.
Gronning A, Doktor T, Larsen S, Spangsberg Petersen U, Holm L, Bruun G, et al.
Nucleic Acids Res
. 2020 Jun;
48(13):7099-7118.
PMID: 32558887
Nucleotide variants can cause functional changes by altering protein-RNA binding in various ways that are not easy to predict. This can affect processes such as splicing, nuclear shuttling, and stability...
3.
Gronskov K, Jespersgaard C, Bruun G, Harris P, Brondum-Nielsen K, Andresen B, et al.
Sci Rep
. 2019 Jan;
9(1):645.
PMID: 30679655
Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder. Six genes are associated with autosomal recessive OCA (TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and LRMDA), and one gene, GPR143, is associated with...
4.
Mosegaard S, Bruun G, Flyvbjerg K, Bliksrud Y, Gregersen N, Dembic M, et al.
Mol Genet Metab
. 2017 Nov;
122(4):182-188.
PMID: 29122468
Vitamin B2, riboflavin is essential for cellular function, as it participates in a diversity of redox reactions central to human metabolism, through its role as precursor for the cofactors flavin...
5.
Heintz C, Doktor T, Lanjuin A, Escoubas C, Zhang Y, Weir H, et al.
Nature
. 2016 Dec;
541(7635):102-106.
PMID: 27919065
Ageing is driven by a loss of transcriptional and protein homeostasis and is the key risk factor for multiple chronic diseases. Interventions that attenuate or reverse systemic dysfunction associated with...
6.
Palhais B, Dembic M, Sabaratnam R, Nielsen K, Doktor T, Bruun G, et al.
Mol Genet Metab
. 2016 Sep;
119(3):258-269.
PMID: 27595546
Fabry disease is an X-linked recessive inborn disorder of the glycosphingolipid metabolism, caused by total or partial deficiency of the lysosomal α-galactosidase A enzyme due to mutations in the GLA...
7.
Doktor T, Hua Y, Andersen H, Broner S, Liu Y, Wieckowska A, et al.
Nucleic Acids Res
. 2016 Aug;
45(1):395-416.
PMID: 27557711
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by insufficient levels of the Survival of Motor Neuron (SMN) protein. SMN is expressed ubiquitously and functions in RNA processing pathways...
8.
Palhais B, Praestegaard V, Sabaratnam R, Doktor T, Lutz S, Burda P, et al.
Nucleic Acids Res
. 2015 Apr;
43(9):4627-39.
PMID: 25878036
The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinuria by strengthening an SRSF1 binding site in an ESE leading to activation of a pseudoexon. We hypothesized that...
9.
Bruun G, Doktor T, Andresen B
Mol Genet Metab
. 2013 Jul;
110(1-2):122-8.
PMID: 23810226
In recent studies combining genome-wide association and tandem-MS based metabolic profiling, a single-nucleotide polymorphism (SNP), rs211718C>T, located far upstream of the MCAD gene (ACADM) was found to be associated with...
10.
Pihlmann M, Askou A, Aagaard L, Bruun G, Svalgaard J, Holm-Nielsen M, et al.
J Gene Med
. 2012 Mar;
14(5):328-38.
PMID: 22438271
Background: Vascular endothelial growth factor (VEGF) is an angiogenic growth factor that plays a critical role in several diseases, including cancer, rheumatoid arthritis and diseases of the eye. Persistent regulation...