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1989 1
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45 results

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Page 1
Reducing YAP expression in Pkd1 mutant mice does not improve the cystic phenotype.
Formica C, Kunnen S, Dauwerse JG, Mullick AE, Dijkstra KL, Scharpfenecker M, Peters DJM; DIPAK Consortium. Formica C, et al. Among authors: dauwerse jg. J Cell Mol Med. 2020 Aug;24(15):8876-8882. doi: 10.1111/jcmm.15512. Epub 2020 Jun 27. J Cell Mol Med. 2020. PMID: 32592332 Free PMC article.
A unifying genetic model for facioscapulohumeral muscular dystrophy.
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. Lemmers RJ, et al. Among authors: dauwerse jg. Science. 2010 Sep 24;329(5999):1650-3. doi: 10.1126/science.1189044. Epub 2010 Aug 19. Science. 2010. PMID: 20724583 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.
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.
45 results