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Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SA. Rutten JW, et al. Among authors: dauwerse jg. Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000151
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Gravesteijn G, Dauwerse JG, Overzier M, Brouwer G, Hegeman I, Mulder AA, Baas F, Kruit MC, Terwindt GM, van Duinen SG, Jost CR, Aartsma-Rus A, Lesnik Oberstein SAJ, Rutten JW. Gravesteijn G, et al. Among authors: dauwerse jg. Hum Mol Genet. 2020 Jul 21;29(11):1853-1863. doi: 10.1093/hmg/ddz285. Hum Mol Genet. 2020. PMID: 31960911 Free PMC article.
Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.
Rutten JW, Hack RJ, Duering M, Gravesteijn G, Dauwerse JG, Overzier M, van den Akker EB, Slagboom E, Holstege H, Nho K, Saykin A, Dichgans M, Malik R, Lesnik Oberstein SAJ. Rutten JW, et al. Among authors: dauwerse jg. Neurology. 2020 Sep 29;95(13):e1835-e1843. doi: 10.1212/WNL.0000000000010525. Epub 2020 Jul 30. Neurology. 2020. PMID: 32732295 Free PMC article.
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.
Lantinga-van Leeuwen IS, Dauwerse JG, Baelde HJ, Leonhard WN, van de Wal A, Ward CJ, Verbeek S, Deruiter MC, Breuning MH, de Heer E, Peters DJ. Lantinga-van Leeuwen IS, et al. Among authors: dauwerse jg. Hum Mol Genet. 2004 Dec 15;13(24):3069-77. doi: 10.1093/hmg/ddh336. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496422
High-resolution in situ hybridization using DNA halo preparations.
Wiegant J, Kalle W, Mullenders L, Brookes S, Hoovers JM, Dauwerse JG, van Ommen GJ, Raap AK. Wiegant J, et al. Among authors: dauwerse jg. Hum Mol Genet. 1992 Nov;1(8):587-91. doi: 10.1093/hmg/1.8.587. Hum Mol Genet. 1992. PMID: 1301167
46 results