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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.
Activity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome.
Bustos F, Mathur S, Espejo-Serrano C, Toth R, Hastie CJ, Virdee S, Findlay GM.
Bustos F, et al. Among authors: espejo serrano c.
Life Sci Alliance. 2022 Jun 28;5(11):e202101248. doi: 10.26508/lsa.202101248. Print 2022 Nov.
Life Sci Alliance. 2022.
PMID: 35764390
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. Among authors: espejo serrano c.
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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Chromatin targeting of the RNF12/RLIM E3 ubiquitin ligase controls transcriptional responses.
Espejo-Serrano C, Aitken C, Tan BF, May DG, Chrisopulos RJ, Roux KJ, Demmers JA, Mackintosh SG, Gribnau J, Bustos F, Gontan C, Findlay GM.
Espejo-Serrano C, et al.
Life Sci Alliance. 2024 Jan 10;7(3):e202302282. doi: 10.26508/lsa.202302282. Print 2024 Mar.
Life Sci Alliance. 2024.
PMID: 38199845
Free PMC article.
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Roles of the Rlim-Rex1 axis during X chromosome inactivation in mice.
Wang F, Chander A, Yoon Y, Welton JM, Wallingford MC, Espejo-Serrano C, Bustos F, Findlay GM, Mager J, Bach I.
Wang F, et al. Among authors: espejo serrano c.
Proc Natl Acad Sci U S A. 2023 Dec 26;120(52):e2313200120. doi: 10.1073/pnas.2313200120. Epub 2023 Dec 19.
Proc Natl Acad Sci U S A. 2023.
PMID: 38113263
Free PMC article.
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