Publication list - Publika - Scientific publications from Oslo University Hospital

Publications by Mari Ann Kulseth

54 publications found

Original articles

Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S, Genomics England Research Consortium, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A et al. (2023)
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Hum Mol Genet, 32 (4), 580-594
DOI 10.1093/hmg/ddac225, PubMed 36067010

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 (2021)
A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT
J Clin Immunol, 42 (2), 404-420
DOI 10.1007/s10875-021-01189-y, PubMed 34893945

Tønne E, Due-Tønnessen BJ, Mero IL, Wiig US, Kulseth MA, Vigeland MD, Sheng Y, von der Lippe C, Tveten K, Meling TR, Helseth E, Heimdal KR (2020)
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
Eur J Hum Genet, 29 (6), 920-929
DOI 10.1038/s41431-020-00788-4, PubMed 33288889

Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT (2020)
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
Hum Mutat, 42 (2), 135-141
DOI 10.1002/humu.24137, PubMed 33169484

Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B (2018)
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report
BMC Med Genet, 19 (1), 155
DOI 10.1186/s12881-018-0671-0, PubMed 30170566

Sitek JC, Kulseth MA, Rypdal KB, Skodje T, Sheng Y, Retterstøl L (2018)
Whole-exome sequencing for diagnosis of hereditary ichthyosis
J Eur Acad Dermatol Venereol, 32 (6), 1022-1027
DOI 10.1111/jdv.14870, PubMed 29444371

Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K (2017)
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
Mol Genet Metab, 121 (4), 325-328
DOI 10.1016/j.ymgme.2017.06.004, PubMed 28673549

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR et al. (2016)
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
J Allergy Clin Immunol, 139 (1), 232-245
DOI 10.1016/j.jaci.2016.05.042, PubMed 27577878

Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A (2016)
Two male sibs with severe micrognathia and a missense variant in MED12
Eur J Med Genet, 59 (8), 367-72
DOI 10.1016/j.ejmg.2016.06.001, PubMed 27286923

Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
PLoS One, 10 (7), e0131637
DOI 10.1371/journal.pone.0131637, PubMed 26154504

Heimdal K, Dalhus B, Rødningen OK, Kroken M, Eiklid K, Dheyauldeen S, Røysland T, Andersen R, Kulseth MA (2015)
Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1
Clin Genet, 89 (2), 182-6
DOI 10.1111/cge.12612, PubMed 25970827

Kulseth MA, Fagerlund A, Myrset AH (2014)
Affinity selection using filamentous phage display
Methods Mol Biol, 1088, 67-80
DOI 10.1007/978-1-62703-673-3_5, PubMed 24146397

Fagerlund A, Myrset AH, Kulseth MA (2014)
Construction of a filamentous phage display peptide library
Methods Mol Biol, 1088, 19-33
DOI 10.1007/978-1-62703-673-3_2, PubMed 24146394

Sorte H, Mørkrid L, Rødningen O, Kulseth MA, Stray-Pedersen A, Matthijs G, Race V, Houge G, Fiskerstrand T, Bjurulf B, Lyle R, Prescott T (2012)
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Eur J Med Genet, 55 (3), 196-202
DOI 10.1016/j.ejmg.2012.01.003, PubMed 22306853

Myrset AH, Fjerdingstad HB, Bendiksen R, Arbo BE, Bjerke RM, Johansen JH, Kulseth MA, Skurtveit R (2011)
Design and characterization of targeted ultrasound microbubbles for diagnostic use
Ultrasound Med Biol, 37 (1), 136-50
DOI 10.1016/j.ultrasmedbio.2010.10.010, PubMed 21144962

Kulseth MA, Lyle R, Rødningen OK, Sorte H, Prescott T (2010)
Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
Eur J Med Genet, 54 (2), 130-5
DOI 10.1016/j.ejmg.2010.10.011, PubMed 21044704

Kulseth MA, Berge KE, Bogsrud MP, Leren TP (2010)
Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site
J Hum Genet, 55 (10), 676-80
DOI 10.1038/jhg.2010.87, PubMed 20703241

Cameron J, Ranheim T, Halvorsen B, Kulseth MA, Leren TP, Berge KE (2009)
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C
Atherosclerosis, 209 (1), 163-6
DOI 10.1016/j.atherosclerosis.2009.08.039, PubMed 19765707

Tveten K, Khoo KL, Berge KE, Leren TP, Kulseth MA (2009)
Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene
Genet Test Mol Biomarkers, 13 (2), 243-8
DOI 10.1089/gtmb.2008.0125, PubMed 19371225

Tveten K, Ranheim T, Berge KE, Leren TP, Kulseth MA (2009)
The effect of bafilomycin A1 and protease inhibitors on the degradation and recycling of a Class 5-mutant LDLR
Acta Biochim Biophys Sin (Shanghai), 41 (3), 246-55
DOI 10.1093/abbs/gmp008, PubMed 19280064

Cameron J, Holla ØL, Kulseth MA, Leren TP, Berge KE (2009)
Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3
Clin Chim Acta, 403 (1-2), 131-5
DOI 10.1016/j.cca.2009.02.001, PubMed 19361455

Holla ØL, Kulseth MA, Berge KE, Leren TP, Ranheim T (2009)
Nonsense-mediated decay of human LDL receptor mRNA
Scand J Clin Lab Invest, 69 (3), 409-17
DOI 10.1080/00365510802707163, PubMed 19148831

Ranheim T, Mattingsdal M, Lindvall JM, Holla OL, Berge KE, Kulseth MA, Leren TP (2008)
Genome-wide expression analysis of cells expressing gain of function mutant D374Y-PCSK9
J Cell Physiol, 217 (2), 459-67
DOI 10.1002/jcp.21519, PubMed 18570182

Cameron J, Holla ØL, Laerdahl JK, Kulseth MA, Berge KE, Leren TP (2008)
Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage
Atherosclerosis, 203 (1), 161-5
DOI 10.1016/j.atherosclerosis.2008.10.007, PubMed 19022446

Fagerlund A, Myrset AH, Kulseth MA (2008)
Construction and characterization of a 9-mer phage display pVIII-library with regulated peptide density
Appl Microbiol Biotechnol, 80 (5), 925-36
DOI 10.1007/s00253-008-1630-z, PubMed 18716770

Cameron J, Holla ØL, Berge KE, Kulseth MA, Ranheim T, Leren TP, Laerdahl JK (2008)
Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion
FEBS J, 275 (16), 4121-33
DOI 10.1111/j.1742-4658.2008.06553.x, PubMed 18631360

Cameron J, Ranheim T, Kulseth MA, Leren TP, Berge KE (2008)
Berberine decreases PCSK9 expression in HepG2 cells
Atherosclerosis, 201 (2), 266-73
DOI 10.1016/j.atherosclerosis.2008.02.004, PubMed 18355829

Cameron J, Holla OL, Laerdahl JK, Kulseth MA, Ranheim T, Rognes T, Berge KE, Leren TP (2008)
Characterization of novel mutations in the catalytic domain of the PCSK9 gene
J Intern Med, 263 (4), 420-31
DOI 10.1111/j.1365-2796.2007.01915.x, PubMed 18266662

Tveten K, Holla ØL, Ranheim T, Berge KE, Leren TP, Kulseth MA (2007)
4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor
FEBS J, 274 (8), 1881-93
DOI 10.1111/j.1742-4658.2007.05735.x, PubMed 17408384

Ranheim T, Kulseth MA, Berge KE, Leren TP (2006)
Model system for phenotypic characterization of sequence variations in the LDL receptor gene
Clin Chem, 52 (8), 1469-79
DOI 10.1373/clinchem.2006.068627, PubMed 16740646

Tveten K, Ranheim T, Berge KE, Leren TP, Kulseth MA (2006)
Analysis of alternatively spliced isoforms of human LDL receptor mRNA
Clin Chim Acta, 373 (1-2), 151-7
DOI 10.1016/j.cca.2006.05.031, PubMed 16828075

Cameron J, Holla ØL, Ranheim T, Kulseth MA, Berge KE, Leren TP (2006)
Effect of mutations in the PCSK9 gene on the cell surface LDL receptors
Hum Mol Genet, 15 (9), 1551-8
DOI 10.1093/hmg/ddl077, PubMed 16571601

Holla ØL, Cameron J, Berge KE, Kulseth MA, Ranheim T, Leren TP (2006)
Low-density lipoprotein receptor activity in Epstein-Barr virus-transformed lymphocytes from heterozygotes for the D374Y mutation in the PCSK9 gene
Scand J Clin Lab Invest, 66 (4), 317-28
DOI 10.1080/00365510600672775, PubMed 16777760

Sørensen S, Ranheim T, Bakken KS, Leren TP, Kulseth MA (2005)
Retention of mutant low density lipoprotein receptor in endoplasmic reticulum (ER) leads to ER stress
J Biol Chem, 281 (1), 468-76
DOI 10.1074/jbc.M507071200, PubMed 16257961

Gedde-Dahl A, Kulseth MA, Ranheim T, Drevon CA, Rustan AC (2002)
Reduced secretion of triacylglycerol in CaCo-2 cells transfected with intestinal fatty acid-binding protein
Lipids, 37 (1), 61-8
DOI 10.1007/s11745-002-0864-8, PubMed 11876264

Kulseth MA, Kolset SO, Ranheim T (1999)
Stimulation of serglycin and CD44 mRNA expression in endothelial cells exposed to TNF-alpha and IL-1alpha
Biochim Biophys Acta, 1428 (2-3), 225-32
DOI 10.1016/s0304-4165(99)00096-3, PubMed 10434040

Finstad HS, Drevon CA, Kulseth MA, Synstad AV, Knudsen E, Kolset SO (1998)
Cell proliferation, apoptosis and accumulation of lipid droplets in U937-1 cells incubated with eicosapentaenoic acid
Biochem J, 336 ( Pt 2) (Pt 2), 451-9
DOI 10.1042/bj3360451, PubMed 9820824

Kulseth MA, Mustorp SL, Uhlin-Hansen L, Oberg F, Kolset SO (1998)
Serglycin expression during monocytic differentiation of U937-1 cells
Glycobiology, 8 (8), 747-53
DOI 10.1093/glycob/8.8.747, PubMed 9639535

Halvorsen B, Aas UK, Kulseth MA, Drevon CA, Christiansen EN, Kolset SO (1998)
Proteoglycans in macrophages: characterization and possible role in the cellular uptake of lipoproteins
Biochem J, 331 ( Pt 3) (Pt 3), 743-52
DOI 10.1042/bj3310743, PubMed 9560300

Kulseth MA, Krajci P, Myklebost O, Rogne S (1995)
Cloning and characterization of two forms of bovine polymeric immunoglobulin receptor cDNA
DNA Cell Biol, 14 (3), 251-6
DOI 10.1089/dna.1995.14.251, PubMed 7880445

Kulseth MA, Rogne S (1994)
Cloning and characterization of the bovine immunoglobulin J chain cDNA and its promoter region
DNA Cell Biol, 13 (1), 37-42
DOI 10.1089/dna.1994.13.37, PubMed 8286037

Kulseth MA, Helgeland L (1993)
A highly sensitive chromogenic microplate assay for quantification of rat and human plasminogen
Anal Biochem, 210 (2), 314-7
DOI 10.1006/abio.1993.1201, PubMed 8512067

Myrset AH, Johnsen BR, Kulseth MA, Wassdal I, Helgeland L (1991)
Investigation of a possible correlation between rates of secretion and microsomal membrane association of plasma proteins synthesized by rat liver
Biochim Biophys Acta, 1070 (1), 229-36
DOI 10.1016/0005-2736(91)90169-9, PubMed 1751530