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Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS. Nielsen KB, et al. Among authors: corydon tj. Am J Hum Genet. 2007 Mar;80(3):416-32. doi: 10.1086/511992. Epub 2007 Jan 18. Am J Hum Genet. 2007. PMID: 17273963 Free PMC article.
Porcine models of choroidal neovascularization: A systematic review.
Jakobsen TS, Fabian-Jessing BK, Hansen S, Bek T, Askou AL, Corydon TJ. Jakobsen TS, et al. Among authors: corydon tj. Exp Eye Res. 2023 Sep;234:109590. doi: 10.1016/j.exer.2023.109590. Epub 2023 Jul 19. Exp Eye Res. 2023. PMID: 37474015 Free article. Review.
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kølvraa S. Gregersen N, et al. Among authors: corydon mj, corydon tj. Hum Mol Genet. 1998 Apr;7(4):619-27. doi: 10.1093/hmg/7.4.619. Hum Mol Genet. 1998. PMID: 9499414
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N. Andresen BS, et al. Among authors: corydon tj. Am J Hum Genet. 1999 Feb;64(2):479-94. doi: 10.1086/302261. Am J Hum Genet. 1999. PMID: 9973285 Free PMC article.
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.
Siggaard C, Rittig S, Corydon TJ, Andreasen PH, Jensen TG, Andresen BS, Robertson GL, Gregersen N, Bolund L, Pedersen EB. Siggaard C, et al. Among authors: corydon tj. J Clin Endocrinol Metab. 1999 Aug;84(8):2933-41. doi: 10.1210/jcem.84.8.5869. J Clin Endocrinol Metab. 1999. PMID: 10443701
Protein misfolding and degradation in genetic diseases.
Bross P, Corydon TJ, Andresen BS, Jørgensen MM, Bolund L, Gregersen N. Bross P, et al. Among authors: corydon tj. Hum Mutat. 1999;14(3):186-98. doi: 10.1002/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J. Hum Mutat. 1999. PMID: 10477427 Review.
Characterization of mouse Clpp protease cDNA, gene, and protein.
Andresen BS, Corydon TJ, Wilsbech M, Bross P, Schroeder LD, Hindkjaer TF, Bolund L, Gregersen N. Andresen BS, et al. Among authors: corydon tj. Mamm Genome. 2000 Apr;11(4):275-80. doi: 10.1007/s003350010052. Mamm Genome. 2000. PMID: 10754102
161 results