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Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.
Flannick J, Beer NL, Bick AG, Agarwala V, Molnes J, Gupta N, Burtt NP, Florez JC, Meigs JB, Taylor H, Lyssenko V, Irgens H, Fox E, Burslem F, Johansson S, Brosnan MJ, Trimmer JK, Newton-Cheh C, Tuomi T, Molven A, Wilson JG, O'Donnell CJ, Kathiresan S, Hirschhorn JN, Njølstad PR, Rolph T, Seidman JG, Gabriel S, Cox DR, Seidman CE, Groop L, Altshuler D. Flannick J, et al. Among authors: molnes j. Nat Genet. 2013 Nov;45(11):1380-5. doi: 10.1038/ng.2794. Epub 2013 Oct 6. Nat Genet. 2013. PMID: 24097065 Free PMC article.
Exome sequencing and genetic testing for MODY.
Johansson S, Irgens H, Chudasama KK, Molnes J, Aerts J, Roque FS, Jonassen I, Levy S, Lima K, Knappskog PM, Bell GI, Molven A, Njølstad PR. Johansson S, et al. Among authors: molnes j. PLoS One. 2012;7(5):e38050. doi: 10.1371/journal.pone.0038050. Epub 2012 May 25. PLoS One. 2012. PMID: 22662265 Free PMC article.
Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children.
Jahnavi S, Poovazhagi V, Mohan V, Bodhini D, Raghupathy P, Amutha A, Suresh Kumar P, Adhikari P, Shriraam M, Kaur T, Das AK, Molnes J, Njolstad PR, Unnikrishnan R, Radha V. Jahnavi S, et al. Among authors: molnes j. Clin Genet. 2013 May;83(5):439-45. doi: 10.1111/j.1399-0004.2012.01939.x. Epub 2012 Aug 20. Clin Genet. 2013. PMID: 22831748
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: molnes j. 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
Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.
Johansson BB, Irgens HU, Molnes J, Sztromwasser P, Aukrust I, Juliusson PB, Søvik O, Levy S, Skrivarhaug T, Joner G, Molven A, Johansson S, Njølstad PR. Johansson BB, et al. Among authors: molnes j. Diabetologia. 2017 Apr;60(4):625-635. doi: 10.1007/s00125-016-4167-1. Epub 2016 Dec 2. Diabetologia. 2017. PMID: 27913849
48 results