Dembic M - Search Results

1

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS. Mosegaard S, et al. Among authors: dembic m. Mol Genet Metab. 2017 Dec;122(4):182-188. doi: 10.1016/j.ymgme.2017.10.014. Epub 2017 Nov 2. Mol Genet Metab. 2017. PMID: 29122468

2

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.

Doktor TK, Hua Y, Andersen HS, Brøner S, Liu YH, Wieckowska A, Dembic M, Bruun GH, Krainer AR, Andresen BS. Doktor TK, et al. Among authors: dembic m. Nucleic Acids Res. 2017 Jan 9;45(1):395-416. doi: 10.1093/nar/gkw731. Epub 2016 Aug 23. Nucleic Acids Res. 2017. PMID: 27557711 Free PMC article.

3

The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.

Palhais B, Dembic M, Sabaratnam R, Nielsen KS, Doktor TK, Bruun GH, Andresen BS. Palhais B, et al. Among authors: dembic m. Mol Genet Metab. 2016 Nov;119(3):258-269. doi: 10.1016/j.ymgme.2016.08.007. Epub 2016 Aug 27. Mol Genet Metab. 2016. PMID: 27595546

4

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

Martínez-Pizarro A, Dembic M, Pérez B, Andresen BS, Desviat LR. Martínez-Pizarro A, et al. Among authors: dembic m. PLoS Genet. 2018 Apr 23;14(4):e1007360. doi: 10.1371/journal.pgen.1007360. eCollection 2018 Apr. PLoS Genet. 2018. PMID: 29684050 Free PMC article.

5

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.

Dembic M, Andersen HS, Bastin J, Doktor TK, Corydon TJ, Sass JO, Lopes Costa A, Djouadi F, Andresen BS. Dembic M, et al. Mol Genet Metab. 2019 Jan;126(1):64-76. doi: 10.1016/j.ymgme.2018.10.004. Epub 2018 Oct 22. Mol Genet Metab. 2019. PMID: 30446350

6

Down-Regulation of CK2α Leads toUp-Regulation of the Cyclin-Dependent Kinase Inhibitor p27^KIP1 in Conditions Unfavorable for the Growth of Myoblast Cells.

Guerra B, Dembic M, Siddiqui MA, Dominguez I, Ceppi P, Andresen BS. Guerra B, et al. Among authors: dembic m. Cell Physiol Biochem. 2020 Nov 21;54(6):1177-1198. doi: 10.33594/000000308. Cell Physiol Biochem. 2020. PMID: 33216476 Free article.

7

Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing.

Varzari A, Deyneko IV, Bruun GH, Dembic M, Hofmann W, Cebotari VM, Ginda SS, Andresen BS, Illig T. Varzari A, et al. Among authors: dembic m. Front Genet. 2022 Oct 20;13:969895. doi: 10.3389/fgene.2022.969895. eCollection 2022. Front Genet. 2022. PMID: 36338958 Free PMC article.

8

Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.

Spangsberg Petersen US, Dembic M, Martínez-Pizarro A, Richard E, Holm LL, Havelund JF, Doktor TK, Larsen MR, Færgeman NJ, Desviat LR, Andresen BS. Spangsberg Petersen US, et al. Among authors: dembic m. Mol Ther Nucleic Acids. 2023 Dec 13;35(1):102101. doi: 10.1016/j.omtn.2023.102101. eCollection 2024 Mar 12. Mol Ther Nucleic Acids. 2023. PMID: 38204914 Free PMC article.

9

The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.

Hedley PL, Kanters JK, Dembic M, Jespersen T, Skibsbye L, Aidt FH, Eschen O, Graff C, Behr ER, Schlamowitz S, Corfield V, McKenna WJ, Christiansen M. Hedley PL, et al. Among authors: dembic m. Circ Cardiovasc Genet. 2013 Oct;6(5):452-61. doi: 10.1161/CIRCGENETICS.113.000137. Epub 2013 Sep 10. Circ Cardiovasc Genet. 2013. PMID: 24021552

10

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M, van Brakel Andersen L, Larsen MJ, Mechlenburg I, Søballe K, Hertz JM. Dembic M, et al. Mol Genet Genomics. 2023 Mar;298(2):329-342. doi: 10.1007/s00438-022-01980-5. Epub 2022 Dec 1. Mol Genet Genomics. 2023. PMID: 36454308 Free PMC article.

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