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A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome.
Sci Rep. 2021 May 5;11(1):9560. doi: 10.1038/s41598-021-88911-3.
Sci Rep. 2021.
PMID: 33953269
Free PMC article.
RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.
Bustos F, Segarra-Fas A, Chaugule VK, Brandenburg L, Branigan E, Toth R, Macartney T, Knebel A, Hay RT, Walden H, Findlay GM.
Bustos F, et al. Among authors: segarra fas a.
Cell Rep. 2018 May 8;23(6):1599-1611. doi: 10.1016/j.celrep.2018.04.022.
Cell Rep. 2018.
PMID: 29742418
Free PMC article.
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An RNF12-USP26 amplification loop drives germ cell specification and is disrupted by disease-associated mutations.
Segarra-Fas A, Espejo-Serrano C, Bustos F, Zhou H, Wang F, Toth R, Macartney T, Bach I, Nardocci G, Findlay GM.
Segarra-Fas A, et al.
Sci Signal. 2022 Jul 12;15(742):eabm5995. doi: 10.1126/scisignal.abm5995. Epub 2022 Jul 12.
Sci Signal. 2022.
PMID: 35857630
Free PMC article.
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Functional Diversification of SRSF Protein Kinase to Control Ubiquitin-Dependent Neurodevelopmental Signaling.
Bustos F, Segarra-Fas A, Nardocci G, Cassidy A, Antico O, Davidson L, Brandenburg L, Macartney TJ, Toth R, Hastie CJ, Moran J, Gourlay R, Varghese J, Soares RF, Montecino M, Findlay GM.
Bustos F, et al. Among authors: segarra fas a.
Dev Cell. 2020 Dec 7;55(5):629-647.e7. doi: 10.1016/j.devcel.2020.09.025. Epub 2020 Oct 19.
Dev Cell. 2020.
PMID: 33080171
Free PMC article.
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Profiling embryonic stem cell differentiation by MALDI TOF mass spectrometry: development of a reproducible and robust sample preparation workflow.
Heap RE , Segarra-Fas A , Blain AP , Findlay GM , Trost M .
Heap RE , et al. Among authors: segarra fas a.
Analyst. 2019 Oct 22;144(21):6371-6381. doi: 10.1039/c9an00771g.
Analyst. 2019.
PMID: 31566633
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Multiplex surface plasmon resonance biosensing and its transferability towards imaging nanoplasmonics for detection of mycotoxins in barley.
Joshi S, Segarra-Fas A, Peters J, Zuilhof H, van Beek TA, Nielen MW.
Joshi S, et al. Among authors: segarra fas a.
Analyst. 2016 Feb 21;141(4):1307-18. doi: 10.1039/c5an02512e.
Analyst. 2016.
PMID: 26763589
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