Bjørås M - Search Results

1

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics; Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC. Stray-Pedersen A, et al. Among authors: bjoras m. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12. Am J Hum Genet. 2014. PMID: 24931394 Free PMC article.

2

Structural insight into repair of alkylated DNA by a new superfamily of DNA glycosylases comprising HEAT-like repeats.

Dalhus B, Helle IH, Backe PH, Alseth I, Rognes T, Bjørås M, Laerdahl JK. Dalhus B, et al. Among authors: bjoras m. Nucleic Acids Res. 2007;35(7):2451-9. doi: 10.1093/nar/gkm039. Epub 2007 Mar 29. Nucleic Acids Res. 2007. PMID: 17395642 Free PMC article.

3

DNA base repair--recognition and initiation of catalysis.

Dalhus B, Laerdahl JK, Backe PH, Bjørås M. Dalhus B, et al. Among authors: bjoras m. FEMS Microbiol Rev. 2009 Nov;33(6):1044-78. doi: 10.1111/j.1574-6976.2009.00188.x. Epub 2009 Jul 3. FEMS Microbiol Rev. 2009. PMID: 19659577 Free article. Review.

4

Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.

Brodtkorb E, Strand J, Backe PH, Lund AM, Bjørås M, Rootwelt T, Rootwelt H, Woldseth B, Eide L. Brodtkorb E, et al. Among authors: bjoras m. Mol Genet Metab. 2010 Aug;100(4):324-32. doi: 10.1016/j.ymgme.2010.04.017. Epub 2010 May 31. Mol Genet Metab. 2010. PMID: 20570198

5

The chromatin remodeling factor SMARCB1 forms a complex with human cytomegalovirus proteins UL114 and UL44.

Ranneberg-Nilsen T, Rollag H, Slettebakk R, Backe PH, Olsen Ø, Luna L, Bjørås M. Ranneberg-Nilsen T, et al. Among authors: bjoras m. PLoS One. 2012;7(3):e34119. doi: 10.1371/journal.pone.0034119. Epub 2012 Mar 27. PLoS One. 2012. PMID: 22479537 Free PMC article.

6

Structure and function of the human sperm-specific isoform of protein kinase A (PKA) catalytic subunit Cα2.

Hereng TH, Backe PH, Kahmann J, Scheich C, Bjørås M, Skålhegg BS, Rosendal KR. Hereng TH, et al. Among authors: bjoras m. J Struct Biol. 2012 Jun;178(3):300-10. doi: 10.1016/j.jsb.2012.03.013. Epub 2012 Apr 6. J Struct Biol. 2012. PMID: 22504716

7

Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA).

Søberg K, Larsen AC, Diskar M, Backe PH, Bjørås M, Jahnsen T, Laerdahl JK, Rognes T, Herberg FW, Skålhegg BS. Søberg K, et al. Among authors: bjoras m. PLoS One. 2012;7(4):e34838. doi: 10.1371/journal.pone.0034838. Epub 2012 Apr 13. PLoS One. 2012. PMID: 22514673 Free PMC article.

8

Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type.

Backe PH, Ytre-Arne M, Røhr AK, Brodtkorb E, Fowler B, Rootwelt H, Bjørås M, Mørkrid L. Backe PH, et al. Among authors: bjoras m. JIMD Rep. 2013;11:79-85. doi: 10.1007/8904_2013_225. Epub 2013 Apr 12. JIMD Rep. 2013. PMID: 23580368 Free PMC article.

9

A new family of proteins related to the HEAT-like repeat DNA glycosylases with affinity for branched DNA structures.

Backe PH, Simm R, Laerdahl JK, Dalhus B, Fagerlund A, Okstad OA, Rognes T, Alseth I, Kolstø AB, Bjørås M. Backe PH, et al. Among authors: bjoras m. J Struct Biol. 2013 Jul;183(1):66-75. doi: 10.1016/j.jsb.2013.04.007. Epub 2013 Apr 25. J Struct Biol. 2013. PMID: 23623903 Free article.

10

Human OXR1 maintains mitochondrial DNA integrity and counteracts hydrogen peroxide-induced oxidative stress by regulating antioxidant pathways involving p21.

Yang M, Luna L, Sørbø JG, Alseth I, Johansen RF, Backe PH, Danbolt NC, Eide L, Bjørås M. Yang M, et al. Among authors: bjoras m. Free Radic Biol Med. 2014 Dec;77:41-8. doi: 10.1016/j.freeradbiomed.2014.09.003. Epub 2014 Sep 16. Free Radic Biol Med. 2014. PMID: 25236744 Free article.

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