Holla ØL - Search Results

1

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.

Jørgensen SF, Buechner J, Myhre AE, Galteland E, Spetalen S, Kulseth MA, Sorte HS, Holla ØL, Lundman E, Alme C, Heier I, Flægstad T, Fløisand Y, Benneche A, Fevang B, Aukrust P, Stray-Pedersen A, Gedde-Dahl T, Nordøy I. Jørgensen SF, et al. Among authors: holla ol. J Clin Immunol. 2022 Feb;42(2):404-420. doi: 10.1007/s10875-021-01189-y. Epub 2021 Dec 10. J Clin Immunol. 2022. PMID: 34893945 Free PMC article.

2

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Mah-Som AY, Daw J, Huynh D, Wu M, Creekmore BC, Burns W, Skinner SA, Holla ØL, Smeland MF, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah MA, Sczakiel HL, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth CG, Pena L, Ramsey K, Narayanan V, Seaver LH, Rodriguez D, Afenjar A, Burglen L, Lee EB, Chou TF, Weihl CC, Shinawi MS. Mah-Som AY, et al. Among authors: holla ol. Am J Hum Genet. 2023 Nov 2;110(11):1959-1975. doi: 10.1016/j.ajhg.2023.10.007. Epub 2023 Oct 25. Am J Hum Genet. 2023. PMID: 37883978 Free PMC article.

3

Effect of mutations in the PCSK9 gene on the cell surface LDL receptors.

Cameron J, Holla ØL, Ranheim T, Kulseth MA, Berge KE, Leren TP. Cameron J, et al. Among authors: holla ol. Hum Mol Genet. 2006 May 1;15(9):1551-8. doi: 10.1093/hmg/ddl077. Epub 2006 Mar 28. Hum Mol Genet. 2006. PMID: 16571601

4

Low-density lipoprotein receptor activity in Epstein-Barr virus-transformed lymphocytes from heterozygotes for the D374Y mutation in the PCSK9 gene.

Holla ØL, Cameron J, Berge KE, Kulseth MA, Ranheim T, Leren TP. Holla ØL, et al. Scand J Clin Lab Invest. 2006;66(4):317-28. doi: 10.1080/00365510600672775. Scand J Clin Lab Invest. 2006. PMID: 16777760

5

4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor.

Tveten K, Holla ØL, Ranheim T, Berge KE, Leren TP, Kulseth MA. Tveten K, et al. Among authors: holla ol. FEBS J. 2007 Apr;274(8):1881-93. doi: 10.1111/j.1742-4658.2007.05735.x. Epub 2007 Mar 5. FEBS J. 2007. PMID: 17408384 Free article.

6

Characterization of novel mutations in the catalytic domain of the PCSK9 gene.

Cameron J, Holla OL, Laerdahl JK, Kulseth MA, Ranheim T, Rognes T, Berge KE, Leren TP. Cameron J, et al. Among authors: holla ol. J Intern Med. 2008 Apr;263(4):420-31. doi: 10.1111/j.1365-2796.2007.01915.x. Epub 2008 Feb 2. J Intern Med. 2008. PMID: 18266662 Free article.

7

Genome-wide expression analysis of cells expressing gain of function mutant D374Y-PCSK9.

Ranheim T, Mattingsdal M, Lindvall JM, Holla OL, Berge KE, Kulseth MA, Leren TP. Ranheim T, et al. Among authors: holla ol. J Cell Physiol. 2008 Nov;217(2):459-67. doi: 10.1002/jcp.21519. J Cell Physiol. 2008. PMID: 18570182

8

Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion.

Cameron J, Holla ØL, Berge KE, Kulseth MA, Ranheim T, Leren TP, Laerdahl JK. Cameron J, et al. Among authors: holla ol. FEBS J. 2008 Aug;275(16):4121-33. doi: 10.1111/j.1742-4658.2008.06553.x. Epub 2008 Jul 9. FEBS J. 2008. PMID: 18631360 Free article.

9

Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage.

Cameron J, Holla ØL, Laerdahl JK, Kulseth MA, Berge KE, Leren TP. Cameron J, et al. Among authors: holla ol. Atherosclerosis. 2009 Mar;203(1):161-5. doi: 10.1016/j.atherosclerosis.2008.10.007. Epub 2008 Oct 17. Atherosclerosis. 2009. PMID: 19022446

10

Nonsense-mediated decay of human LDL receptor mRNA.

Holla ØL, Kulseth MA, Berge KE, Leren TP, Ranheim T. Holla ØL, et al. Scand J Clin Lab Invest. 2009;69(3):409-17. doi: 10.1080/00365510802707163. Scand J Clin Lab Invest. 2009. PMID: 19148831

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