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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
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5870, doi. 10.3390/ijms22115870
By:
- Pakdaman, Yasaman;
- Berland, Siren;
- Bustad, Helene J.;
- Erdal, Sigrid;
- Thompson, Bryony A.;
- James, Paul A.;
- Power, Kjersti N.;
- Ellingsen, Ståle;
- Krooni, Martin;
- Berge, Line I.;
- Sexton, Adrienne;
- Bindoff, Laurence A.;
- Knappskog, Per M.;
- Johansson, Stefan;
- Aukrust, Ingvild
Publication type:
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
NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant – a case report.
Published in:
BMC Medical Genetics, 2018, v. 19, p. 1, doi. 10.1186/s12881-018-0559-z
By:
- McTiernan, Nina;
- Støve, Svein Isungset;
- Aukrust, Ingvild;
- Mårli, Marita Torrisen;
- Myklebust, Line M.;
- Houge, Gunnar;
- Arnesen, Thomas
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
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
Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.
Published in:
Diabetologia, 2017, v. 60, n. 4, p. 625, doi. 10.1007/s00125-016-4167-1
By:
- Johansson, Bente;
- Irgens, Henrik;
- Molnes, Janne;
- Sztromwasser, Paweł;
- Aukrust, Ingvild;
- Juliusson, Petur;
- Søvik, Oddmund;
- Levy, Shawn;
- Skrivarhaug, Torild;
- Joner, Geir;
- Molven, Anders;
- Johansson, Stefan;
- Njølstad, Pål
Publication type:
Article
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins.
Published in:
Bioscience Reports, 2017, v. 37, n. 2, p. 1, doi. 10.1042/BSR20170251
By:
- Pakdaman, Yasaman;
- Sanchez-Guixé, Monica;
- Kleppe, Rune;
- Erdal, Sigrid;
- Bustad, Helene J.;
- Bjrkhaug, Lise;
- Haugarvoll, Kristoffer;
- Tzoulis, Charalampos;
- Heimdal, Ketil;
- Knappskog, Per M.;
- Johansson, Stefan;
- Aukrust, Ingvild
Publication type:
Article
Pellino‐2 in nonimmune cells: novel interaction partners and intracellular localization.
Published in:
FEBS Letters, 2021, v. 595, n. 23, p. 2909, doi. 10.1002/1873-3468.14212
By:
- Cristea, Ileana;
- Bruland, Ove;
- Aukrust, Ingvild;
- Rødahl, Eyvind;
- Bredrup, Cecilie
Publication type:
Article
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
Published in:
BMC Cancer, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12885-023-10790-w
By:
- Bassi, Nicola;
- Hovland, Henrikke Nilsen;
- Rasheed, Kashif;
- Jarhelle, Elisabeth;
- Pedersen, Nikara;
- Mchaina, Eunice Kabanyana;
- Bakkan, Sara Marie Engelsvold;
- Iversen, Nina;
- Høberg-Vetti, Hildegunn;
- Haukanes, Bjørn Ivar;
- Knappskog, Per Morten;
- Aukrust, Ingvild;
- Ognedal, Elisabet;
- Van Ghelue, Marijke
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
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
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss‐of‐function phenotypes in vitro.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 240, doi. 10.1002/jimd.12309
By:
- Velasco, Kelly;
- St‐Louis, Johanna L.;
- Hovland, Henrikke N.;
- Thompson, Nels;
- Ottesen, Åsta;
- Choi, Man Hung;
- Pedersen, Line;
- Njølstad, Pål R.;
- Arnesen, Thomas;
- Fjeld, Karianne;
- Aukrust, Ingvild;
- Myklebust, Line M.;
- Molven, Anders
Publication type:
Article
Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies.
Published in:
Acta Ophthalmologica (1755375X), 2021, v. 99, n. 5, p. e733, doi. 10.1111/aos.14679
By:
- Holtan, Josephine Prener;
- Aukrust, Ingvild;
- Jansson, Ragnhild Wivestad;
- Berland, Siren;
- Bruland, Ove;
- Gjerde, Birgitt Løkhaug;
- Stokowy, Tomasz;
- Bojovic, Ognjen;
- Forsaa, Vegard;
- Austeng, Dordi;
- Rødahl, Eyvind;
- Bredrup, Cecilie;
- Knappskog, Per Morten;
- Bragadóttir, Ragnheiður
Publication type:
Article
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
Published in:
Acta Ophthalmologica (1755375X), 2017, v. 95, n. 3, p. 240, doi. 10.1111/aos.13273
By:
- Aukrust, Ingvild;
- Jansson, Ragnhild W.;
- Bredrup, Cecilie;
- Rusaas, Hilde E.;
- Berland, Siren;
- Jørgensen, Agnete;
- Haug, Marte G.;
- Rødahl, Eyvind;
- Houge, Gunnar;
- Knappskog, Per M.
Publication type:
Article
Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish.
Published in:
Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.723912
By:
- Pakdaman, Yasaman;
- Denker, Elsa;
- Austad, Eirik;
- Norton, William H. J.;
- Rolfsnes, Hans O.;
- Bindoff, Laurence A.;
- Tzoulis, Charalampos;
- Aukrust, Ingvild;
- Knappskog, Per M.;
- Johansson, Stefan;
- Ellingsen, Ståle
Publication type:
Article
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories.
Published in:
Familial Cancer, 2022, v. 21, n. 4, p. 389, doi. 10.1007/s10689-021-00286-6
By:
- Hovland, Henrikke N.;
- Al-Adhami, Rafal;
- Ariansen, Sarah Louise;
- Van Ghelue, Marijke;
- Sjursen, Wenche;
- Lima, Sigrid;
- Bolstad, Marte;
- Berger, Amund H.;
- Høberg-Vetti, Hildegunn;
- Knappskog, Per;
- Haukanes, Bjørn Ivar;
- Aukrust, Ingvild;
- Ognedal, Elisabet
Publication type:
Article
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
Published in:
Cells (2073-4409), 2023, v. 12, n. 20, p. 2469, doi. 10.3390/cells12202469
By:
- Larasati, Yonika A.;
- Solis, Gonzalo P.;
- Koval, Alexey;
- Griffiths, Silja T.;
- Berentsen, Ragnhild;
- Aukrust, Ingvild;
- Lesca, Gaetan;
- Chatron, Nicolas;
- Ville, Dorothée;
- Korff, Christian M.;
- Katanaev, Vladimir L.
Publication type:
Article
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
Post-translational modifications of Annexin A2 are linked to its association with perinuclear nonpolysomal mRNP complexes.
Published in:
FEBS Open Bio, 2017, v. 7, n. 2, p. 160, doi. 10.1002/2211-5463.12173
By:
- Aukrust, Ingvild;
- Rosenberg, Linn Andersen;
- Ankerud, Mia Madeleine;
- Bertelsen, Vibeke;
- Hollås, Hanne;
- Saraste, Jaakko;
- Grindheim, Ann Kari;
- Vedeler, Anni
Publication type:
Article
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions.
Published in:
Genes, 2023, v. 14, n. 2, p. 262, doi. 10.3390/genes14020262
By:
- Hovland, Henrikke Nilsen;
- Mchaina, Eunice Kabanyana;
- Høberg-Vetti, Hildegunn;
- Ariansen, Sarah Louise;
- Sjursen, Wenche;
- Van Ghelue, Marijke;
- Haukanes, Bjørn Ivar;
- Knappskog, Per Morten;
- Aukrust, Ingvild;
- Ognedal, Elisabet
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
Ubiquitinated annexin A2 is enriched in the cytoskeleton fraction
Published in:
FEBS Letters, 2005, v. 579, n. 1, p. 203, doi. 10.1016/j.febslet.2004.11.076
By:
- Lauvrak, Silje U.;
- Hollås, Hanne;
- Døskeland, Anne P.;
- Aukrust, Ingvild;
- Flatmark, Torgeir;
- Vedeler, Anni
Publication type:
Article
246-LB: Rare Noncoding Intronic HNF1A Sequence Variants Cause Aberrant mRNA Processing in MODY.
Published in:
Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-246-LB
By:
- SOLHEIM, MARIE H.;
- KHAKIANI, MOJDEH NASROLLAHZADEH;
- MOLNES, JANNE;
- AUKRUST, INGVILD;
- NJøLSTAD, PåL RASMUS;
- JOHANSSON, STEFAN
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

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