Publications by authors named "Mari Ann Kulseth"

27Publications

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.

Mol Genet Metab 2017 08 17;121(4):325-328. Epub 2017 Jun 17.

Department of Medical Genetics, Oslo University Hospital, P.B 4956 Nydalen, 0424 Oslo, Norway. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.06.004DOI Listing
August 2017

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2016.05.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222743PMC
January 2017

Two male sibs with severe micrognathia and a missense variant in MED12.

Eur J Med Genet 2016 Aug 7;59(8):367-72. Epub 2016 Jun 7.

Baylor-Hopkins Center for Mendelian Genomics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Norwegian National Unit for Newborn Screening, Oslo University Hospital, 0424, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2016.06.001DOI Listing
August 2016

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 2015 May;147(5):e166-e170

Department of Medical Genetics, Oslo University Hospital, Oslo, Norway; Institute of Clinical Medicine, Oslo University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1378/chest.13-3002DOI Listing
May 2015

Affinity selection using filamentous phage display.

Methods Mol Biol 2014 ;1088:67-80

Department of Medical Genetics, Rikshospitalet, Oslo University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-62703-673-3_5DOI Listing
May 2014

Construction of a filamentous phage display peptide library.

Methods Mol Biol 2014 ;1088:19-33

Department of Pharmaceutical Biosciences, University of Oslo, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-62703-673-3_2DOI Listing
May 2014

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 2011 Mar-Apr;54(2):130-5. Epub 2010 Oct 31.

Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2010.10.011DOI Listing
August 2011

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 2010 Oct 12;55(10):676-80. Epub 2010 Aug 12.

Department of Medical Genetics, Oslo University Hospital, Rikshospitalet, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2010.87DOI Listing
October 2010

Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C.

Atherosclerosis 2010 Mar 29;209(1):163-6. Epub 2009 Aug 29.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet, Oslo University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosis.2009.08.039DOI Listing
March 2010

Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene.

Genet Test Mol Biomarkers 2009 Apr;13(2):243-8

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2008.0125DOI Listing
April 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 2009 May 7;403(1-2):131-5. Epub 2009 Feb 7.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2009.02.001DOI Listing
May 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) 2009 Mar;41(3):246-55

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, N-0027 Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/abbs/gmp008DOI Listing
March 2009

Nonsense-mediated decay of human LDL receptor mRNA.

Scand J Clin Lab Invest 2009 ;69(3):409-17

Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/00365510802707163DOI Listing
July 2009

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

Atherosclerosis 2009 Mar 17;203(1):161-5. Epub 2008 Oct 17.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, NO-0027 Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosis.2008.10.007DOI Listing
March 2009

Construction and characterization of a 9-mer phage display pVIII-library with regulated peptide density.

Appl Microbiol Biotechnol 2008 Oct 21;80(5):925-36. Epub 2008 Aug 21.

GE Healthcare Medical Diagnostics, FoUII-3, Nydalen, 0401 Oslo, Norway.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00253-008-1630-z
Publisher Site
http://dx.doi.org/10.1007/s00253-008-1630-zDOI Listing
October 2008

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

FEBS J 2008 Aug 9;275(16):4121-33. Epub 2008 Jul 9.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1742-4658.2008.06553.xDOI Listing
August 2008

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

J Cell Physiol 2008 Nov;217(2):459-67

Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcp.21519DOI Listing
November 2008

Berberine decreases PCSK9 expression in HepG2 cells.

Atherosclerosis 2008 Dec 15;201(2):266-73. Epub 2008 Feb 15.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosis.2008.02.004DOI Listing
December 2008

Analysis of alternatively spliced isoforms of human LDL receptor mRNA.

Clin Chim Acta 2006 Nov 26;373(1-2):151-7. Epub 2006 May 26.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Center, N-0027 Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2006.05.031DOI Listing
November 2006

Model system for phenotypic characterization of sequence variations in the LDL receptor gene.

Clin Chem 2006 Aug 1;52(8):1469-79. Epub 2006 Jun 1.

Department of Medical Genetics, Rikshospitalet-Radiumhospitalet Medical Center, N-0027 Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2006.068627DOI Listing
August 2006

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

Hum Mol Genet 2006 May 28;15(9):1551-8. Epub 2006 Mar 28.

Medical Genetics Laboratory, Department of Meical Genetics, Rikshospitalet University Hospital, N-0027 Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddl077DOI Listing
May 2006

Retention of mutant low density lipoprotein receptor in endoplasmic reticulum (ER) leads to ER stress.

J Biol Chem 2006 Jan 28;281(1):468-76. Epub 2005 Oct 28.

Medical Genetics Laboratory, Department of Medical Genetics, Rikshospitalet, University Hospital, N-0027 Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M507071200DOI Listing
January 2006

Reduced secretion of triacylglycerol in CaCo-2 cells transfected with intestinal fatty acid-binding protein.

Lipids 2002 Jan;37(1):61-8

Department of Pharmacology, School of Pharmacy, University of Oslo, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11745-002-0864-8DOI Listing
January 2002