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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: backe ph. 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.
DNA base repair--recognition and initiation of catalysis.
Dalhus B, Laerdahl JK, Backe PH, Bjørås M. Dalhus B, et al. Among authors: backe ph. 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.
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
Lundin KE, Hamasy A, Backe PH, Moens LN, Falk-Sörqvist E, Elgstøen KB, Mørkrid L, Bjørås M, Granert C, Norlin AC, Nilsson M, Christensson B, Stenmark S, Smith CI. Lundin KE, et al. Among authors: backe ph. Clin Immunol. 2015 Dec;161(2):366-72. doi: 10.1016/j.clim.2015.10.002. Epub 2015 Oct 19. Clin Immunol. 2015. PMID: 26482871 Free PMC article.
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.
Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A. Sorte HS, et al. Among authors: backe ph. Mol Genet Genomic Med. 2016 Sep 17;4(6):604-616. doi: 10.1002/mgg3.237. eCollection 2016 Nov. Mol Genet Genomic Med. 2016. PMID: 27896283 Free PMC article.
Novel UCHL1 mutations reveal new insights into ubiquitin processing.
Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK. Rydning SL, et al. Among authors: backe ph. Hum Mol Genet. 2017 Mar 15;26(6):1031-1040. doi: 10.1093/hmg/ddw391. Hum Mol Genet. 2017. PMID: 28007905
35 results