Kristian Tveten

 

Publications 2019

Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D et al. (2019)
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases
Am J Med Genet A, 179 (9), 1884-1894
DOI 10.1002/ajmg.a.61282, PubMed 31313512

Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA et al. (2019)
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Am J Hum Genet, 104 (3), 530-541
DOI 10.1016/j.ajhg.2019.01.010, PubMed 30827496

Crotti L, Spazzolini C, Tester DJ, Ghidoni A, Baruteau AE, Beckmann BM, Behr ER, Bennett JS, Bezzina CR, Bhuiyan ZA, Celiker A, Cerrone M, Dagradi F, De Ferrari GM, Etheridge SP, Fatah M, Garcia-Pavia P, Al-Ghamdi S, Hamilton RM, Al-Hassnan ZN, Horie M, Jimenez-Jaimez J, Kanter RJ, Kaski JP, Kotta MC et al. (2019)
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry
Eur Heart J, 40 (35), 2964-2975
DOI 10.1093/eurheartj/ehz311, PubMed 31170290

Dulovic-Mahlow M, Trinh J, Kandaswamy KK, Braathen GJ, Di Donato N, Rahikkala E, Beblo S, Werber M, Krajka V, Busk ØL, Baumann H, Al-Sannaa NA, Hinrichs F, Affan R, Navot N, Al Balwi MA, Oprea G, Holla ØL, Weiss MER, Jamra RA, Kahlert AK, Kishore S, Tveten K, Vos M, Rolfs A et al. (2019)
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
Am J Hum Genet, 105 (1), 213-220
DOI 10.1016/j.ajhg.2019.05.005, PubMed 31230721

Dyment DA, Terhal PA, Rustad CF, Tveten K, Griffith C, Jayakar P, Shinawi M, Ellingwood S, Smith R, van Gassen K, McWalter K, Innes AM, Lines MA (2019)
De novo substitutions of TRPM3 cause intellectual disability and epilepsy
Eur J Hum Genet, 27 (10), 1611-1618
DOI 10.1038/s41431-019-0462-x, PubMed 31278393

Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS et al. (2019)
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
Eur J Hum Genet, 27 (5), 738-746
DOI 10.1038/s41431-018-0292-2, PubMed 30679813

Publications 2018

Gibbs C, Thalamus J, Tveten K, Busk ØL, Hysing J, Haugaa KH, Holla ØL (2018)
Genetic and Phenotypic Characterization of Community Hospital Patients With QT Prolongation
J Am Heart Assoc, 7 (16), e009706
DOI 10.1161/JAHA.118.009706, PubMed 30369311

Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, Baple EL, Dean J, Fong CT, Hickey SE, Hudgins L, Leon E, Madan-Khetarpal S, Rawlins L, Rustad CF, Stray-Pedersen A, Tveten K, Wenger O, Diaz J, Jenkins L, Martin L et al. (2018)
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
Genet Med, 21 (3), 663-675
DOI 10.1038/s41436-018-0085-6, PubMed 30158690

Publications 2017

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE et al. (2017)
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Am J Hum Genet, 101 (5), 768-788
DOI 10.1016/j.ajhg.2017.10.003, PubMed 29100089

Nordang GBN, Busk ØL, Tveten K, Hanevik HI, Fell AKM, Hjelmesæth J, Holla ØL, Hertel JK (2017)
Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls
Mol Genet Metab, 121 (1), 51-56
DOI 10.1016/j.ymgme.2017.03.007, PubMed 28377240

Publications 2015

Braathen GJ, Høyer H, Busk ØL, Tveten K, Skjelbred CF, Russell MB (2015)
Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family
Acta Neurol Scand, 134 (1), 67-75
DOI 10.1111/ane.12515, PubMed 26517670

Holla ØL, Busk ØL, Tveten K, Hilmarsen HT, Strand L, Høyer H, Bakken A, Skjelbred CF, Braathen GJ (2015)
Clinical exome sequencing – Norwegian findings
Tidsskr Nor Laegeforen, 135 (20), 1833-7
DOI 10.4045/tidsskr.14.1442, PubMed 26534809

Publications 2014

Strøm TB, Tveten K, Laerdahl JK, Leren TP (2014)
Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum
FEBS Open Bio, 4, 321-7
DOI 10.1016/j.fob.2014.03.007, PubMed 24918045

Strøm TB, Tveten K, Leren TP (2014)
PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum
Biochem J, 457 (1), 99-105
DOI 10.1042/BJ20130930, PubMed 24144304

Publications 2013

Tveten K, Strøm TB, Berge KE, Leren TP (2013)
PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment
J Lipid Res, 54 (6), 1560-6
DOI 10.1194/jlr.M034371, PubMed 23509406

Publications 2012

Cameron J, Bogsrud MP, Tveten K, Strøm TB, Holven K, Berge KE, Leren TP (2012)
Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways
Transl Res, 160 (2), 125-30
DOI 10.1016/j.trsl.2012.01.010, PubMed 22683370

Tveten K, Strøm TB, Cameron J, Berge KE, Leren TP (2012)
Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia
Atherosclerosis, 225 (2), 370-5
DOI 10.1016/j.atherosclerosis.2012.10.026, PubMed 23102784

Publications 2011

Holla ØL, Cameron J, Tveten K, Strøm TB, Berge KE, Laerdahl JK, Leren TP (2011)
Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
J Lipid Res, 52 (10), 1787-94
DOI 10.1194/jlr.M018093, PubMed 21771976

Holla ØL, Laerdahl JK, Strøm TB, Tveten K, Cameron J, Berge KE, Leren TP (2011)
Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor
Biochem Biophys Res Commun, 406 (2), 234-8
DOI 10.1016/j.bbrc.2011.02.023, PubMed 21324305

Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum
Biochem Biophys Res Commun, 415 (4), 642-5
DOI 10.1016/j.bbrc.2011.10.127, PubMed 22079632

Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation
Biochem Biophys Res Commun, 408 (4), 642-6
DOI 10.1016/j.bbrc.2011.04.077, PubMed 21531209

Tveten K, Holla ØL, Cameron J, Strøm TB, Berge KE, Laerdahl JK, Leren TP (2011)
Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification
Hum Mol Genet, 21 (6), 1402-9
DOI 10.1093/hmg/ddr578, PubMed 22156580

Tveten K, Strøm TB, Cameron J, Holla ØL, Berge KE, Leren TP (2011)
Characterization of a naturally occurring degradation product of the LDL receptor
Mol Genet Metab, 105 (1), 149-54
DOI 10.1016/j.ymgme.2011.10.008, PubMed 22078455

Publications 2010

Strøm TB, Holla ØL, Tveten K, Cameron J, Berge KE, Leren TP (2010)
Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain
Mol Genet Metab, 101 (1), 76-80
DOI 10.1016/j.ymgme.2010.05.003, PubMed 20659812

Publications 2009

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 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

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

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