Works by Bjørkhaug, Lise

Results: 25

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

Published in:

Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29448-w

By:

Kaci, Alba;
Keindl, Magdalena;
Solheim, Marie H.;
Njølstad, Pål R.;
Bjørkhaug, Lise;
Aukrust, Ingvild

Publication type:

Article

Incidence of HNF1A and GCK MODY Variants in a South African Population.

Published in:

Application of Clinical Genetics, 2020, v. 13, p. 209, doi. 10.2147/TACG.S281872

By:

Matsha, Tandi E;
Raghubeer, Shanel;
Tshivhase, Abegail M;
Davids, Saarah FG;
Hon, Gloudina M;
Bjørkhaug, Lise;
Erasmus, Rajiv T

Publication type:

Article

A new candidate region for the positional cloning of the XLP gene.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 5, p. 509, doi. 10.1038/sj.ejhg.5200249

By:

Bolino, Alessandra;
Yin, Luo;
Seri, Marco;
Cusano, Roberto;
Cinti, Roberta;
Coffey, Alison;
Brooksbank, Robert;
Howell, Gareth;
Bentley, David;
Davis, Jack R;
Lanyi, Arpad;
Huang, Doli;
Stark, Markus;
Creaven, Martina;
Bjørkhaug, Lise;
Heitzmann, Fabrice;
Lamartine, Jérôme;
Gaudi, Simona;
Sylla, Bakary S

Publication type:

Article

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.

Published in:

Nature Genetics, 2006, v. 38, n. 1, p. 54, doi. 10.1038/ng1708

By:

Ræder, Helge;
Johansson, Stefan;
Holm, Pål I;
Haldorsen, Ingfrid S;
Mas, Eric;
Sbarra, Véronique;
Nermoen, Ingrid;
Eide, Stig Å;
Grevle, Louise;
Bjørkhaug, Lise;
Sagen, Jørn V;
Aksnes, Lage;
Søvik, Oddmund;
Lombardo, Dominique;
Molven, Anders;
Njølstad, Pål Rasmus

Publication type:

Article

Hepatocyte Nuclear Factor-1α Gene Mutations and Diabetes in Norway.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 2, p. 920, doi. 10.1210/jc.2002-020945

By:

BJØRKHAUG, LISE;
SAGEN, JØRN V.;
THORSBY, PER;
SØVIK, ODDMUND;
MOLVEN, ANDERS;
NJØLSTAD, PÅL R.

Publication type:

Article

The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.

Published in:

Diabetologia, 2023, v. 66, n. 1, p. 116, doi. 10.1007/s00125-022-05806-2

By:

Stalbow, Lauren A.;
Preuss, Michael H.;
Smit, Roelof A. J.;
Chami, Nathalie;
Bjørkhaug, Lise;
Aukrust, Ingvild;
Gloyn, Anna L.;
Loos, Ruth J. F.

Publication type:

Article

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.

Published in:

2003

By:

Njølstad PR;
Sagen JV;
Bjørkhaug L;
Odili S;
Shehadeh N;
Bakry D;
Sarici SU;
Alpay F;
Molnes J;
Molven A;
Søvik O;
Matschinsky FM;
Njølstad, Pål R;
Sagen, Jørn V;
Bjørkhaug, Lise;
Odili, Stella;
Shehadeh, Naim;
Bakry, Doua;
Sarici, S Umit;
Alpay, Faruk

Publication type:

journal article

Permanent Neonatal Diabetes Caused by Glucokinase Deficiency.

Published in:

Diabetes, 2003, v. 52, n. 11, p. 2854, doi. 10.2337/diabetes.52.11.2854

By:

Njølstad, Pål R.;
Sagen, Jørn V.;
Bjørkhaug, Lise;
Odili, Stella;
Shehadeh, Naim;
Bakry, Doua;
Sarici, S. Umit;
Alpay, Faruk;
Molnes, Janne;
Molven, Anders;
Søvik, Oddmund;
Matschinsky, Franz M.

Publication type:

Article

Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.

Published in:

Diabetologia, 2023, v. 66, n. 12, p. 2226, doi. 10.1007/s00125-023-06012-4

By:

Svalastoga, Pernille;
Kaci, Alba;
Molnes, Janne;
Solheim, Marie H.;
Johansson, Bente B.;
Krogvold, Lars;
Skrivarhaug, Torild;
Valen, Eivind;
Johansson, Stefan;
Molven, Anders;
Sagen, Jørn V.;
Søfteland, Eirik;
Bjørkhaug, Lise;
Tjora, Erling;
Aukrust, Ingvild;
Njølstad, Pål R.

Publication type:

Article

Diagnostic screening of MODY2/ GCK mutations in the Norwegian MODY Registry.

Published in:

Pediatric Diabetes, 2008, v. 9, n. 5, p. 442, doi. 10.1111/j.1399-5448.2008.00399.x

By:

Sagen, Jørn V;
Bjørkhaug, Lise;
Molnes, Janne;
Ræder, Helge;
Grevle, Louise;
Søvik, Oddmund;
Molven, Anders;
Njølstad, Pål R

Publication type:

Article

Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 10, p. 894, doi. 10.1093/hmg/ddae027

By:

Kaci, Alba;
Solheim, Marie Holm;
Silgjerd, Trine;
Hjaltadottir, Jorunn;
Hornnes, Lorentze Hope;
Molnes, Janne;
Madsen, Andre;
Sjøholt, Gry;
Bellanné-Chantelot, Christine;
Caswell, Richard;
Sagen, Jørn V;
Njølstad, Pål R;
Aukrust, Ingvild;
Bjørkhaug, Lise

Publication type:

Article

Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population.

Published in:

JAMA: Journal of the American Medical Association, 2014, v. 311, n. 22, p. 2305, doi. 10.1001/jama.2014.6511

By:

Estrada, Karol;
Aukrust, Ingvild;
Bjørkhaug, Lise;
Burtt, Noël P.;
Mercader, Josep M.;
García-Ortiz, Humberto;
Huerta-Chagoya, Alicia;
Moreno-Macías, Hortensia;
Walford, Geoffrey;
Flannick, Jason;
Williams, Amy L.;
Gómez-Vázquez, María J.;
Fernandez-Lopez, Juan C.;
Martínez-Hernández, Angélica;
Centeno-Cruz, Federico;
Mendoza-Caamal, Elvia;
Revilla-Monsalve, Cristina;
Islas-Andrade, Sergio;
Córdova, Emilio J.;
Soberón, Xavier

Publication type:

Article

The Female Menstrual Cycles Effect on Strength and Power Parameters in High-Level Female Team Athletes.

Published in:

Frontiers in Physiology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphys.2021.600668

By:

Dasa, Marcus S.;
Kristoffersen, Morten;
Ersvær, Elisabeth;
Bovim, Lars Peder;
Bjørkhaug, Lise;
Moe-Nilssen, Rolf;
Sagen, Jørn V.;
Haukenes, Inger

Publication type:

Article

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0146-0

By:

Heimdal, Ketil;
Sanchez-Guixé, Monica;
Aukrust, Ingvild;
Bollerslev, Jens;
Bruland, Ove;
Jablonski, Greg Eigner;
Erichsen, Anne Kjersti;
Gude, Einar;
Koht, Jeanette A.;
Erdal, Sigrid;
Fiskerstrand, Torunn;
Haukanes, Bjørn Ivar;
Boman, Helge;
Bjørkhaug, Lise;
Tallaksen, Chantal M. E.;
Knappskog, Per M.;
Johansson, Stefan

Publication type:

Article

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.

Published in:

2014

By:

Heimdal, Ketil;
Sanchez-Guixé, Monica;
Aukrust, Ingvild;
Bollerslev, Jens;
Bruland, Ove;
Jablonski, Greg Eigner;
Erichsen, Anne Kjersti;
Gude, Einar;
Koht, Jeanette A;
Erdal, Sigrid;
Fiskerstrand, Torunn;
Haukanes, Bjørn Ivar;
Boman, Helge;
Bjørkhaug, Lise;
Tallaksen, Chantal M E;
Knappskog, Per M;
Johansson, Stefan

Publication type:

journal article

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

Published in:

2020

By:

Malikova, Jana;
Kaci, Alba;
Dusatkova, Petra;
Aukrust, Ingvild;
Torsvik, Janniche;
Vesela, Klara;
Kankova, Pavla Dvorakova;
Njølstad, Pål R;
Pruhova, Stepanka;
Bjørkhaug, Lise

Publication type:

journal article

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

Published in:

2015

By:

Rozenkova, Klara;
Malikova, Jana;
Nessa, Azizun;
Dusatkova, Lenka;
Bjørkhaug, Lise;
Obermannova, Barbora;
Dusatkova, Petra;
Kytnarova, Jitka;
Aukrust, Ingvild;
Najmi, Laeya A;
Rypackova, Blanka;
Sumnik, Zdenek;
Lebl, Jan;
Njølstad, Pål R;
Hussain, Khalid;
Pruhova, Stepanka

Publication type:

journal article

Functional Dissection of the HNF-1alpha Transcription Factor: A Study on Nuclear Localization and Transcriptional Activation.

Published in:

DNA & Cell Biology, 2005, v. 24, n. 11, p. 661, doi. 10.1089/dna.2005.24.661

By:

Bjørkhaug, Lise;
Bratland, André;
Njølstad, Pål Rasmus;
Molven, Anders

Publication type:

Article

Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity.

Published in:

FEBS Journal, 2011, v. 278, n. 13, p. 2372, doi. 10.1111/j.1742-4658.2011.08160.x

By:

Molnes, Janne;
Teigen, Knut;
Aukrust, Ingvild;
Bjørkhaug, Lise;
Søvik, Oddmund;
Flatmark, Torgeir;
Njølstad, Pål Rasmus

Publication type:

Article

Catalytic activation of human glucokinase by substrate binding – residue contacts involved in the binding ofD-glucose to the super-open form and conformational transitions.

Published in:

FEBS Journal, 2008, v. 275, n. 10, p. 2467, doi. 10.1111/j.1742-4658.2008.06391.x

By:

Molnes, Janne;
Bjørkhaug, Lise;
Søvik, Oddmund;
Njølstad, Pål R.;
Flatmark, Torgeir

Publication type:

Article

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.

Published in:

2017

By:

Najmi, Laeya Abdoli;
Aukrust, Ingvild;
Flannick, Jason;
Molnes, Janne;
Burtt, Noel;
Molven, Anders;
Groop, Leif;
Altshuler, David;
Johansson, Stefan;
Bjørkhaug, Lise;
Njølstad, Pål Rasmus

Publication type:

journal article

A Hepatocyte Nuclear Factor-4α Gene (HNF4A) P2 Promoter Haplotype Linked With Late-Onset Diabetes.

Published in:

Diabetes, 2006, v. 55, n. 6, p. 1899, doi. 10.2337/db05-1677

By:

Ræder, Helge;
Bjørkhaug, Lise;
Johansson, Stefan;
Mangseth, Kjersti;
Sagen, Jørn V.;
Hunting, Anne;
Følling, Ivar;
Johansen, Odd;
Bjørgaas, Marit;
Paus, Povel N.;
Søvik, Oddmund;
Molven, Anders;
Njølstad, Pål R.

Publication type:

Article

From Clinicogenetic Studies of Maturity-Onset Diabetes of the Young to Unraveling Complex Mechanisms of Glucokinase Regulation.

Published in:

Diabetes, 2006, v. 55, n. 6, p. 1713, doi. 10.2337/db05-1513

By:

Sagen, Jørn V.;
Odili, Stella;
Bjørkhaug, Lise;
Zelent, Dorothy;
Buettger, Carol;
Kwagh, Jae;
Stanley, Charles;
Dahl-Jørgensen, Knut;
de Beaufort, Carine;
Bell, Graeme I.;
Han, Yi;
Grimsby, Joseph;
Taub, Rebecca;
Molven, Anders;
Søvik, Oddmund;
Njølstad, Pål R.;
Matschinsky, Franz M.

Publication type:

Article

Acute response in circulating microRNAs following a single bout of short-sprint and heavy strength training in well-trained cyclists.

Published in:

Frontiers in Physiology, 2024, p. 01, doi. 10.3389/fphys.2024.1365357

By:

Ryningen, Anita;
Rostad, Kari;
Ersvær, Elisabeth;
Sjøholt, Gry;
Paulsen, Gøran;
Gundersen, Hilde;
Kristoffersen, Morten;
Bjørkhaug, Lise

Publication type:

Article

Monogenic diabetes mellitus in Norway.

Published in:

Norsk Epidemiologi, 2013, v. 23, n. 1, p. 55

By:

Søvik, Oddmund;
Irgens, Henrik Underthun;
Molnes, Janne;
Sagen, Jørn V.;
Bjørkhaug, Lise;
Ræder, Helge;
Molven, Anders;
Njølstad, Pål R.

Publication type:

Article