Mari Ann Kulseth


    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

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