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: Pakdaman, Y, Berland, S, Bustad, HJ, Erdal, S, Thompson, BA, James, PA, Power, KN, Ellingsen, S, Krooni, M, Berge, LI, Sexton, A, Bindoff, LA, Knappskog, PM, Johansson, S, Aukrust, I

مصطلحات موضوعية: 0399 Other Chemical Sciences, 0604 Genetics, 0699 Other Biological Sciences, Chemical Physics, Adult, Age of Onset, Aged, Family, Female, Frontotemporal Dementia, Gene Expression, Genes, Dominant, Recessive, Heterozygote, Humans, Male, Middle Aged, Mutation, Pedigree, Protein Folding, Spinocerebellar Ataxias, Ubiquitin-Protein Ligases

وصف الملف: Electronic; application/pdf

العلاقة: Int J Mol Sci; Int J Mol Sci, 2021, 22, (11); http://hdl.handle.net/10453/154986Test

الإتاحة: http://hdl.handle.net/10453/154986Test

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: Pakdaman, Y, Berland, S, Bustad, HJ, Erdal, S, Thompson, BA, James, PA, Power, KN, Ellingsen, S, Krooni, M, Berge, LI, Sexton, A, Bindoff, LA, Knappskog, PM, Johansson, S, Aukrust, I

العلاقة: pii: ijms22115870; Pakdaman, Y., Berland, S., Bustad, H. J., Erdal, S., Thompson, B. A., James, P. A., Power, K. N., Ellingsen, S., Krooni, M., Berge, L. I., Sexton, A., Bindoff, L. A., Knappskog, P. M., Johansson, S. & Aukrust, I. (2021). Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22 (11), https://doi.org/10.3390/ijms22115870Test.; http://hdl.handle.net/11343/301881Test

الإتاحة: https://doi.org/10.3390/ijms22115870Test
http://hdl.handle.net/11343/301881Test

المؤلفون: Castilla-Vallmanya, L., Selmer, K.K., Dimartino, C., Rabionet, R., Blanco-Sanchez, B., Yang, S., Reijnders, M.R.F., van Essen, A.J., Oufadem, M., Vigeland, M.D., Stadheim, B., Houge, G., Cox, H., Kingston, H., Clayton-Smith, J., Innis, J.W., Iascone, M., Cereda, A., Gabbiadini, S., Chung, W.K., Sanders, V., Charrow, J., Bryant, E., Millichap, J., Vitobello, A., Thauvin, C., Mau-Them, F.T., Faivre, L., Lesca, G., Labalme, A., Rougeot, C., Chatron, N., Sanlaville, D., Christensen, K.M., Kirby, A., Lewandowski, R., Gannaway, R., Aly, M., Lehman, A., Clarke, L., Graul-Neumann, L., Zweier, C., Lessel, D., Lozic, B., Aukrust, I., Peretz, R., Stratton, R., Smol, T., Dieux-Coeslier, A., Meira, J., Gordon, Christopher T.

المصدر: Castilla-Vallmanya , L , Selmer , K K , Dimartino , C , Rabionet , R , Blanco-Sanchez , B , Yang , S , Reijnders , M R F , van Essen , A J , Oufadem , M , Vigeland , M D , Stadheim , B , Houge , G , Cox , H , Kingston , H , Clayton-Smith , J , Innis , J W , Iascone , M , Cereda , A , Gabbiadini , S , Chung , W K , Sanders , V , Charrow , J , Bryant , E ....

مصطلحات موضوعية: activation, akt1, blepharophimosis, craniofacial development, genomic analysis, intellectual disability, leads, meningiomas, mutations, nf-kappa-b, patent ductus arteriosus, polyubiquitination, protein, target, traf7

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/219e6f2d-7e00-41f9-b48c-41e6857f0ee8Test

الإتاحة: https://doi.org/10.1038/s41436-020-0792-7Test
https://cris.maastrichtuniversity.nl/en/publications/219e6f2d-7e00-41f9-b48c-41e6857f0ee8Test

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: 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: Bina, R, Matalon, D, Fregeau, B, Tarsitano, JJ, Aukrust, I, Houge, G, Bend, R, Warren, H, Stevenson, RE, Stuurman, Kyra, Barkovich, AJ, Sherr, EH

المصدر: Bina , R , Matalon , D , Fregeau , B , Tarsitano , JJ , Aukrust , I , Houge , G , Bend , R , Warren , H , Stevenson , RE , Stuurman , K , Barkovich , AJ & Sherr , EH 2020 , ' De novo variants inSUPT16Hcause neurodevelopmental disorders associated with corpus callosum abnormalities ' , Journal of Medical Genetics , vol. 57 , no. 7 , pp. 461-465 . https://doi.org/10.1136/jmedgenet-2019-106193Test

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

العلاقة: https://pure.eur.nl/en/publications/ea1c4a11-3f11-4f2a-9e32-c620f12069bbTest

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106193Test
https://pure.eur.nl/en/publications/ea1c4a11-3f11-4f2a-9e32-c620f12069bbTest

المؤلفون: Castilla-Vallmanya L, Selmer KK, Dimartino C, Raquel Rabionet Janssen, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R, Gordon CT

المصدر: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: craniofacial development, patent ductus arteriosus, TRAF7, intellectual disability, blepharophimosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8681f41dd6fc27fa740af813b6ca88f8Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718Test

المؤلفون: Moortgat, S., Berland, S., Aukrust, I., Maystadt, I., Baker, L., Benoit, V., Caro-Llopis, A., Cooper, N. S., Debray, F-G, Faivre, L., Gardeitchik, T., Haukanes, B. I., Houge, G., Kivuva, Emma, Martinez, F., Mehta, S. G., Nassogne, M-C, Powell-Hamilton, N., Pfundt, R., Rosello, M., Prescott, T., Vasudevan, P., van Loon, B., Verellen-Dumoulin, C., Verloes, A., Lippe, C. von der, Wakeling, E., Wilkie, A. O. M., Wilson, L., Yuen, A., Study, D., Low, K. J., Newbury-Ecob, R. A.

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

العلاقة: http://dx.doi.org/10.1038/s41431-017-0038-6Test; HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. 2017 Eur. J. Hum. Genet.; http://hdl.handle.net/11287/620570Test; European journal of human genetics : EJHG

الإتاحة: https://doi.org/10.1038/s41431-017-0038-6Test
http://hdl.handle.net/11287/620570Test