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Page 1
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Svalastoga P, Kaci A, Molnes J, Solheim MH, Johansson BB, Krogvold L, Skrivarhaug T, Valen E, Johansson S, Molven A, Sagen JV, Søfteland E, Bjørkhaug L, Tjora E, Aukrust I, Njølstad PR. Svalastoga P, et al. Among authors: solheim mh. Diabetologia. 2023 Dec;66(12):2226-2237. doi: 10.1007/s00125-023-06012-4. Epub 2023 Oct 5. Diabetologia. 2023. PMID: 37798422 Free PMC article.
GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation.
Negahdar M, Aukrust I, Molnes J, Solheim MH, Johansson BB, Sagen JV, Dahl-Jørgensen K, Kulkarni RN, Søvik O, Flatmark T, Njølstad PR, Bjørkhaug L. Negahdar M, et al. Among authors: solheim mh. Mol Cell Endocrinol. 2014 Jan 25;382(1):55-65. doi: 10.1016/j.mce.2013.08.020. Epub 2013 Aug 31. Mol Cell Endocrinol. 2014. PMID: 24001579
Nuclear import of glucokinase in pancreatic beta-cells is mediated by a nuclear localization signal and modulated by SUMOylation.
Johansson BB, Fjeld K, Solheim MH, Shirakawa J, Zhang E, Keindl M, Hu J, Lindqvist A, Døskeland A, Mellgren G, Flatmark T, Njølstad PR, Kulkarni RN, Wierup N, Aukrust I, Bjørkhaug L. Johansson BB, et al. Among authors: solheim mh. Mol Cell Endocrinol. 2017 Oct 15;454:146-157. doi: 10.1016/j.mce.2017.06.020. Epub 2017 Jun 22. Mol Cell Endocrinol. 2017. PMID: 28648619
The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice.
Fjeld K, Gravdal A, Brekke RS, Alam J, Wilhelm SJ, El Jellas K, Pettersen HN, Lin J, Solheim MH, Steine SJ, Johansson BB, Njølstad PR, Verbeke CS, Xiao X, Lowe ME, Molven A. Fjeld K, et al. Among authors: solheim mh. Pancreatology. 2022 Dec;22(8):1099-1111. doi: 10.1016/j.pan.2022.11.003. Epub 2022 Nov 9. Pancreatology. 2022. PMID: 36379850 Free PMC article.
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.
Thuesen ACB, Stæger FF, Kaci A, Solheim MH, Aukrust I, Jørsboe E, Santander CG, Andersen MK, Li Z, Gilly A, Stinson SE, Gjesing AP, Bjerregaard P, Pedersen ML, Larsen CVL, Grarup N, Jørgensen ME, Zeggini E, Bjørkhaug L, Njølstad PR, Albrechtsen A, Moltke I, Hansen T. Thuesen ACB, et al. Among authors: solheim mh. Lancet Reg Health Eur. 2022 Nov 11;24:100529. doi: 10.1016/j.lanepe.2022.100529. eCollection 2023 Jan. Lancet Reg Health Eur. 2022. PMID: 36649380 Free PMC article.
17 results