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Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.
Murray A, Gough G, Cindrić A, Vučković F, Koschut D, Borelli V, Petrović DJ, Bekavac A, Plećaš A, Hribljan V, Brunmeir R, Jurić J, Pučić-Baković M, Slana A, Deriš H, Frkatović A, Groet J, O'Brien NL, Chen HY, Yeap YJ, Delom F, Havlicek S, Gammon L, Hamburg S, Startin C, D'Souza H, Mitrečić D, Kero M, Odak L, Krušlin B, Krsnik Ž, Kostović I, Foo JN, Loh YH, Dunn NR, de la Luna S, Spector T, Barišić I, Thomas MSC, Strydom A, Franceschi C, Lauc G, Krištić J, Alić I, Nižetić D. Murray A, et al. Among authors: d souza h. EBioMedicine. 2023 Aug;94:104692. doi: 10.1016/j.ebiom.2023.104692. Epub 2023 Jul 12. EBioMedicine. 2023. PMID: 37451904 Free PMC article.
The importance of understanding individual differences in Down syndrome.
Karmiloff-Smith A, Al-Janabi T, D'Souza H, Groet J, Massand E, Mok K, Startin C, Fisher E, Hardy J, Nizetic D, Tybulewicz V, Strydom A. Karmiloff-Smith A, et al. F1000Res. 2016 Mar 23;5:F1000 Faculty Rev-389. doi: 10.12688/f1000research.7506.1. eCollection 2016. F1000Res. 2016. PMID: 27019699 Free PMC article. Review.
Face processing in Williams syndrome is already atypical in infancy.
D'Souza D, Cole V, Farran EK, Brown JH, Humphreys K, Howard J, Rodic M, Dekker TM, D'Souza H, Karmiloff-Smith A. D'Souza D, et al. Front Psychol. 2015 Jun 15;6:760. doi: 10.3389/fpsyg.2015.00760. eCollection 2015. Front Psychol. 2015. PMID: 26124729 Free PMC article.
73 results