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Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in sickle cell disease: A phase 2, open-label study.
van Dijk MJ, Rab MAE, van Oirschot BA, Bos J, Derichs C, Rijneveld AW, Cnossen MH, Nur E, Biemond BJ, Bartels M, Jans JJM, van Solinge WW, Schutgens REG, van Wijk R, van Beers EJ. van Dijk MJ, et al. Among authors: jans jjm. Am J Hematol. 2022 Jul;97(7):E226-E229. doi: 10.1002/ajh.26554. Epub 2022 Apr 16. Am J Hematol. 2022. PMID: 35384026 Free article. Clinical Trial. No abstract available.
Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles.
Andressoo JO, Jans J, de Wit J, Coin F, Hoogstraten D, van de Ven M, Toussaint W, Huijmans J, Thio HB, van Leeuwen WJ, de Boer J, Egly JM, Hoeijmakers JH, van der Horst GT, Mitchell JR. Andressoo JO, et al. PLoS Biol. 2006 Oct;4(10):e322. doi: 10.1371/journal.pbio.0040322. PLoS Biol. 2006. PMID: 17020410 Free PMC article.
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
Lipstein N, Verhoeven-Duif NM, Michelassi FE, Calloway N, van Hasselt PM, Pienkowska K, van Haaften G, van Haelst MM, van Empelen R, Cuppen I, van Teeseling HC, Evelein AM, Vorstman JA, Thoms S, Jahn O, Duran KJ, Monroe GR, Ryan TA, Taschenberger H, Dittman JS, Rhee JS, Visser G, Jans JJ, Brose N. Lipstein N, et al. J Clin Invest. 2017 Mar 1;127(3):1005-1018. doi: 10.1172/JCI90259. Epub 2017 Feb 13. J Clin Invest. 2017. PMID: 28192369 Free PMC article.
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
Jansen M, Schuldt M, van Driel BO, Schmidt AF, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Deprez RHL, Wilde AAM, Jans JJM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: jans jjm. Int J Mol Sci. 2023 Feb 17;24(4):4031. doi: 10.3390/ijms24044031. Int J Mol Sci. 2023. PMID: 36835444 Free PMC article.
Differential role of basal keratinocytes in UV-induced immunosuppression and skin cancer.
Jans J, Garinis GA, Schul W, van Oudenaren A, Moorhouse M, Smid M, Sert YG, van der Velde A, Rijksen Y, de Gruijl FR, van der Spek PJ, Yasui A, Hoeijmakers JH, Leenen PJ, van der Horst GT. Jans J, et al. Mol Cell Biol. 2006 Nov;26(22):8515-26. doi: 10.1128/MCB.00807-06. Epub 2006 Sep 11. Mol Cell Biol. 2006. PMID: 16966369 Free PMC article.
Powerful skin cancer protection by a CPD-photolyase transgene.
Jans J, Schul W, Sert YG, Rijksen Y, Rebel H, Eker AP, Nakajima S, van Steeg H, de Gruijl FR, Yasui A, Hoeijmakers JH, van der Horst GT. Jans J, et al. Curr Biol. 2005 Jan 26;15(2):105-15. doi: 10.1016/j.cub.2005.01.001. Curr Biol. 2005. PMID: 15668165 Free article.
83 results