المؤلفون: Kaci, A., Solheim, M. H., Silgjerd, T., Hjaltadottir, J., Hornnes, L. H., Molnes, J., Madsen, A., Sjøholt, G., Bellanné-Chantelot, C., Caswell, R., Sagen, J. V., Njølstad, P. R., Aukrust, I., Bjørkhaug, L.

مصطلحات موضوعية: DNA binding, Hnf4a-mody, functional studies, nuclear localization, transactivation

العلاقة: Kaci A, Solheim MH, Silgjerd T, Hjaltadottir J, Hornnes LH, Molnes J, et al. Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects. Hum Mol Genet. 2024.; Human molecular genetics; https://hdl.handle.net/11287/623199Test

الإتاحة: https://doi.org/10.1093/hmg/ddae027Test
https://hdl.handle.net/11287/623199Test

المؤلفون: Kind, L. (Laura), Raasakka, A. (Arne), Molnes, J. (Janne), Aukrust, I. (Ingvild), Bjørkhaug, L. (Lise), Njølstad, P. R. (Pål Rasmus), Kursula, P. (Petri), Arnesen, T. (Thomas)

مصطلحات موضوعية: DNA-binding protein, HNF-1A, MODY, biophysics, diabetes, pancreas, protein folding, protein stability, transcription factor, β-cell

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe2022091258401Test

المؤلفون: Matsha, T.E., Raghubeer, S., Tshivhase, A.M., Davids, S.F.G., Hon, G.M., Bjørkhaug, L., Erasmus, R.T.

المساهمون: Tandi E Matsha, Shanel Raghubeer, Abegail M Tshivhase, Saarah F G Davids, Gloudina M Hon, Rajiv T Erasmus: SAMRC/Cardiometabolic Health Research Unit, Department of Biomedical Sciences, Faculty of Health & Wellness Sciences, Cape Peninsula University of Technology, Bellville Campus, Cape Town 7530, South Africa.

مصطلحات موضوعية: GCK, HNF1A, MODY, South Africa, Diabetes mellitus, Monogenic diabetes

وصف الملف: application/pdf

العلاقة: Matsha TE, Raghubeer S, Tshivhase AM, Davids SFG, Hon GM, Bjørkhaug L, Erasmus RT. Incidence of HNF1A and GCK MODY Variants in a South African Population. Appl Clin Genet. 2020 Dec 14;13:209-219. doi:10.2147/TACG.S281872.; The Application of Clinical Genetics; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754620Test/; https://hdl.handle.net/11288/596185Test

الإتاحة: https://doi.org/10.2147/TACG.S281872Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754620Test/
https://hdl.handle.net/11288/596185Test

المؤلفون: Althari, S., Najmi, L.A., Bennett, A.J., Aukrust, I., Rundle, J.K., Colclough, K., Molnes, J., Kaci, A., Nawaz, S., van der Lugt, T., Hassanali, N., Mahajan, A., Molven, A., Ellard, S., McCarthy, M.I., Bjorkhaug, L., Njolstad, P.R., Gloyn, A.L.

المصدر: Althari , S , Najmi , L A , Bennett , A J , Aukrust , I , Rundle , J K , Colclough , K , Molnes , J , Kaci , A , Nawaz , S , van der Lugt , T , Hassanali , N , Mahajan , A , Molven , A , Ellard , S , McCarthy , M I , Bjorkhaug , L , Njolstad , P R & Gloyn , A L 2020 , ' Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation ' , American ....

مصطلحات موضوعية: association, classification, gene-mutations, mody, rare variants

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.08.016Test
https://cris.maastrichtuniversity.nl/en/publications/545ba7f9-0c97-44a8-a532-8cac87b44963Test

المؤلفون: Matsha TE, Raghubeer S, Tshivhase AM, Davids SFG, Hon GM, Bjørkhaug L, Erasmus RT

المصدر: The Application of Clinical Genetics, Vol Volume 13, Pp 209-219 (2020)

مصطلحات موضوعية: mody, hnf1a, gck, diabetes mellitus, monogenic diabetes, south africa, Medicine (General), R5-920, Genetics, QH426-470

العلاقة: https://www.dovepress.com/incidence-of-hnf1a-and-gck-mody-variants-in-a-south-african-population-peer-reviewed-article-TACGTest; https://doaj.org/toc/1178-704XTest; https://doaj.org/article/5d587344f57548d2a7a9e3462df7923dTest

الإتاحة: https://doaj.org/article/5d587344f57548d2a7a9e3462df7923dTest

المؤلفون: Thuesen, A., Staeger, F., Kaci, A., Solheim, M., Aukrust, I., Jorsboe, E., Santander, C., Andersen , M., Li, Z., Gilly, A., Stinson, S., Gjesing, A., Bjerregaard, P., Pedersen, M., Larsen, C., Grarup, N., Jorgensen, M., Zeggini, E., Bjorkhaug, L., Njolstad, P., Albrechtsen, A., Moltke, I., Hansen, T.

المصدر: The Lancet Regional Health-Europe

العلاقة: http://hdl.handle.net/21.11116/0000-000C-E82F-BTest

الإتاحة: https://doi.org/10.1016/j.lanepe.2022.100529Test
http://hdl.handle.net/21.11116/0000-000C-E82F-BTest

المؤلفون: Brudeli, G., Vestgård, B., Bjørkgård, S., Bjørkhaug, L.

المصدر: DRITEV – Drivetrain for Vehicles 2021 ; page 567-580

الإتاحة: https://doi.org/10.51202/9783181023815-567Test

المؤلفون: Bell, H., Bjørkhaug, L.

المصدر: eWork and eBusiness in Architecture, Engineering and Construction ; page 185-190 ; ISBN 9781003060819

الإتاحة: https://doi.org/10.1201/9781003060819-30Test

المؤلفون: Sagen, J.V., Bjørkhaug, L., Haukanes, B.I., Grevle, L., Molnes, J., Nedrebø, B.G., Søvik, O., Njølstad, P.R., Johansson, S., Molven, A.

المصدر: Diabetes Research and Clinical Practice ; volume 133, page 142-149 ; ISSN 0168-8227

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism, Internal Medicine

الإتاحة: https://doi.org/10.1016/j.diabres.2017.08.001Test
https://api.elsevier.com/content/article/PII:S0168822717306630?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0168822717306630?httpAccept=text/plainTest

المؤلفون: Balamurugan, K, Bjorkhaug, L, Mahajan, S, Kanthimathi, S, Njolstad, PR, Srinivasan, N, Mohan, V, Radha, V

مصطلحات موضوعية: Molecular Biophysics Unit

العلاقة: Balamurugan, K and Bjorkhaug, L and Mahajan, S and Kanthimathi, S and Njolstad, PR and Srinivasan, N and Mohan, V and Radha, V (2016) Structure-function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. In: CLINICAL GENETICS, 90 (6). pp. 486-495.

الإتاحة: https://doi.org/10.1111/cge.12757Test
http://eprints.iisc.ernet.in/55701Test/