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From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.
Hum Mutat. 2019 Dec;40(12):2414-2429. doi: 10.1002/humu.23898. Epub 2019 Sep 15.
Hum Mutat. 2019.
PMID: 31448843
Free PMC article.
Poly(A)-specific ribonuclease (PARN): an allosterically regulated, processive and mRNA cap-interacting deadenylase.
Virtanen A, Henriksson N, Nilsson P, Nissbeck M.
Virtanen A, et al. Among authors: nissbeck m.
Crit Rev Biochem Mol Biol. 2013 Mar-Apr;48(2):192-209. doi: 10.3109/10409238.2013.771132. Epub 2013 Mar 15.
Crit Rev Biochem Mol Biol. 2013.
PMID: 23496118
Review.
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Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
Dhanraj S, Gunja SM, Deveau AP, Nissbeck M, Boonyawat B, Coombs AJ, Renieri A, Mucciolo M, Marozza A, Buoni S, Turner L, Li H, Jarrar A, Sabanayagam M, Kirby M, Shago M, Pinto D, Berman JN, Scherer SW, Virtanen A, Dror Y.
Dhanraj S, et al. Among authors: nissbeck m.
J Med Genet. 2015 Nov;52(11):738-48. doi: 10.1136/jmedgenet-2015-103292. Epub 2015 Sep 4.
J Med Genet. 2015.
PMID: 26342108
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Insights from engineering the Affibody-Fc interaction with a computational-experimental method.
Nosrati M, Solbak S, Nordesjö O, Nissbeck M, Dourado DFAR, Andersson KG, Housaindokht MR, Löfblom J, Virtanen A, Danielson UH, Flores SC.
Nosrati M, et al. Among authors: nissbeck m.
Protein Eng Des Sel. 2017 Sep 1;30(9):593-601. doi: 10.1093/protein/gzx023.
Protein Eng Des Sel. 2017.
PMID: 28472513
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