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ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.
Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X. Zak J, et al. Among authors: szumska d. Cell Death Differ. 2016 Dec;23(12):1973-1984. doi: 10.1038/cdd.2016.76. Epub 2016 Jul 22. Cell Death Differ. 2016. PMID: 27447114 Free PMC article.
Maternal iron deficiency perturbs embryonic cardiovascular development in mice.
Kalisch-Smith JI, Ved N, Szumska D, Munro J, Troup M, Harris SE, Rodriguez-Caro H, Jacquemot A, Miller JJ, Stuart EM, Wolna M, Hardman E, Prin F, Lana-Elola E, Aoidi R, Fisher EMC, Tybulewicz VLJ, Mohun TJ, Lakhal-Littleton S, De Val S, Giannoulatou E, Sparrow DB. Kalisch-Smith JI, et al. Among authors: szumska d. Nat Commun. 2021 Jun 8;12(1):3447. doi: 10.1038/s41467-021-23660-5. Nat Commun. 2021. PMID: 34103494 Free PMC article.
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.
Wilson R, Geyer SH, Reissig L, Rose J, Szumska D, Hardman E, Prin F, McGuire C, Ramirez-Solis R, White J, Galli A, Tudor C, Tuck E, Mazzeo CI, Smith JC, Robertson E, Adams DJ, Mohun T, Weninger WJ. Wilson R, et al. Among authors: szumska d. Wellcome Open Res. 2017 Feb 27;1:1. doi: 10.12688/wellcomeopenres.9899.2. eCollection 2016. Wellcome Open Res. 2017. PMID: 27996060 Free PMC article.
A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.
Ashrafian H, Docherty L, Leo V, Towlson C, Neilan M, Steeples V, Lygate CA, Hough T, Townsend S, Williams D, Wells S, Norris D, Glyn-Jones S, Land J, Barbaric I, Lalanne Z, Denny P, Szumska D, Bhattacharya S, Griffin JL, Hargreaves I, Fernandez-Fuentes N, Cheeseman M, Watkins H, Dear TN. Ashrafian H, et al. Among authors: szumska d. PLoS Genet. 2010 Jun 24;6(6):e1001000. doi: 10.1371/journal.pgen.1001000. PLoS Genet. 2010. PMID: 20585624 Free PMC article.
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.
Szumska D, Pieles G, Essalmani R, Bilski M, Mesnard D, Kaur K, Franklyn A, El Omari K, Jefferis J, Bentham J, Taylor JM, Schneider JE, Arnold SJ, Johnson P, Tymowska-Lalanne Z, Stammers D, Clarke K, Neubauer S, Morris A, Brown SD, Shaw-Smith C, Cama A, Capra V, Ragoussis J, Constam D, Seidah NG, Prat A, Bhattacharya S. Szumska D, et al. Genes Dev. 2008 Jun 1;22(11):1465-77. doi: 10.1101/gad.479408. Genes Dev. 2008. PMID: 18519639 Free PMC article.
31 results