Publications by authors named "Ingvild Aukrust"

29Publications

Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.

Am J Hum Genet 2020 10 9;107(4):670-682. Epub 2020 Sep 9.

Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LE, UK; Division of Endocrinology, Department of Pediatrics, Stanford School of Medicine, Stanford University, Stanford, CA 94305-5101, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.08.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536579PMC
October 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.

J Clin Endocrinol Metab 2020 Apr;105(4)

Department of Safety, Chemistry and Biomedical Laboratory Sciences, Western Norway University of Applied Sciences, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/clinem/dgaa051DOI Listing
April 2020

Dominant ARL3-related retinitis pigmentosa.

Ophthalmic Genet 2019 04 1;40(2):124-128. Epub 2019 Apr 1.

d Department of Medical Genetics , Haukeland University Hospital , Bergen , Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810.2019.1586965DOI Listing
April 2019

The E3 SUMO ligase PIASγ is a novel interaction partner regulating the activity of diabetes associated hepatocyte nuclear factor-1α.

Sci Rep 2018 08 24;8(1):12780. Epub 2018 Aug 24.

KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5021, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-018-29448-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109179PMC
August 2018

Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation.

Mol Cell Endocrinol 2017 10 22;454:146-157. Epub 2017 Jun 22.

KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Norway; Department of Biomedicine, University of Bergen, Bergen, Norway; Department of Biomedical Laboratory Sciences and Chemical Engineering, Western Norway University of Applied Sciences, Bergen, Norway. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mce.2017.06.020DOI Listing
October 2017

The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.

Acta Ophthalmol 2017 May 24;95(3):240-246. Epub 2016 Oct 24.

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/aos.13273DOI Listing
May 2017

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.

J Clin Endocrinol Metab 2015 Dec 2;100(12):E1540-9. Epub 2015 Oct 2.

Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic; Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway; Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway; Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic; Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway; Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.), Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway; and Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2015-2763DOI Listing
December 2015

GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.

Mol Cell Endocrinol 2014 Jan 31;382(1):55-65. Epub 2013 Aug 31.

KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway; Department of Biomedicine, University of Bergen, Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.mce.2013.08.020DOI Listing
January 2014

The mRNA-binding site of annexin A2 resides in helices C-D of its domain IV.

J Mol Biol 2007 May 7;368(5):1367-78. Epub 2007 Mar 7.

Department of Biomedicine, University of Bergen, Jonas Lies Vei 91, N-5009 Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmb.2007.02.094DOI Listing
May 2007

Annexin A2 recognises a specific region in the 3'-UTR of its cognate messenger RNA.

Biochim Biophys Acta 2006 Nov 1;1763(11):1325-34. Epub 2006 Sep 1.

Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5009 Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbamcr.2006.08.043DOI Listing
November 2006

Ubiquitinated annexin A2 is enriched in the cytoskeleton fraction.

FEBS Lett 2005 Jan;579(1):203-6

Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5009 Bergen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.febslet.2004.11.076DOI Listing
January 2005