Publications 2022

Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S, Consortium GER, Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Rhouma HB, Younes TB, Miladi Z, Turki IBY, Jones WD, Clement E, Eltze C, Mankad K, Merve A et al. (2022)
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Hum Mol Genet (in press)
DOI 10.1093/hmg/ddac225, PubMed 36067010

Publications 2021

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

Publications 2020

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

Publications 2018

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

Publications 2017

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

Publications 2016

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

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

Publications 2015

Abrahamsen BJ, Kulseth MA, Paus B (2015)
A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1
Chest, 147 (5), e166-e170
DOI 10.1378/chest.13-3002, PubMed 25940258

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

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

Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Waage Nielsen E, Heimdal K (2015)
Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1
PLoS One, 10 (8), e0136011
DOI 10.1371/journal.pone.0136011, PubMed 26270546

Publications 2014

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

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

Publications 2012

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

Publications 2011

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

Publications 2010

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

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

Publications 2009

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

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

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

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

Publications 2008

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

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, 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

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

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

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

Publications 2007

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

Publications 2006

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

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

Publications 2005

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

Publications 2002

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

Publications 1999

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

Publications 1998

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), 451-9
DOI 10.1042/bj3360451, PubMed 9820824

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), 743-52
DOI 10.1042/bj3310743, PubMed 9560300

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

Publications 1995

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

Publications 1994

Kulseth MA (1994)
The bovine immunoglobulin J chain and the polymeric immunoglobulin receptor: cloning and characterization
In Doctor scientiarum theses, UMB, Ås, 1994:9, 1 b. (flere pag.)
BIBSYS 972232397, ISBN 82-575-0217-0

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, Toldo SS, Fries R, Womack J, Lien S, Rogne S (1994)
Chromosomal localization and detection of DNA polymorphisms in the bovine polymeric immunoglobulin receptor gene
Anim Genet, 25 (2), 113-7
PubMed 7912048

Publications 1993

Brzozowska A, Grimholt U, Kulseth MA, Wold I, Rogne S (1993)
The sequence of porcine apolipoprotein E (APOE) cDNA
DNA Seq, 4 (3), 207-10
DOI 10.3109/10425179309015633, PubMed 8161823

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

Publications 1991

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

Publications 1989

Kulseth MA (1989)
Intracellulær transport av plasminogen i rotte
< M.A. Kulseth>, Oslo, 97 s.
BIBSYS 922154171

Publications 1985

Dyb K, Kristensen C, Kulseth MA, Sundbø J, Teigen MK, Hägg MB, Lindberg E (1985)
Produksjon av fosforsyreløsning
Telemark ingeniørhøgskole, Porsgrunn
BIBSYS 92213412x

Publications 1984

Dyb K, Karlson JR, Kulseth MA, Stendal L, Syvertsen EH, Mosbye J, Legar T (1984)
Beregning av varmeoverførende flater i en dampkjel
Telemark ingeniørhøgskole, Porsgrunn
BIBSYS 922132771

Kulseth MA, Lohne A, Meder N, Ellefsen L, Stangeland LJ, Torgrimsen T (1984)
Kartlegging av løsemidler på Tubefabrikken a.s.
Telemark ingeniørhøgskole, Porsgrunn
BIBSYS 922132348

Publications 1983

Broby H, Gurmark P, Kulseth MA, Meder N, Sundbø J, Stangeland LJ, Skogrand S (1983)
Framstilling av acetanilid
Telemark ingeniørhøgskole, Porsgrunn
BIBSYS 922131538