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Page 1
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.
Zarouchlioti C, Efthymiou S, Facchini S, Dominik N, Bhattacharyya N, Liu S, Costa MA, Szabo A, Sadan AN, Jun AS, Bugiardini E, Houlden H, Cortese A, Skalicka P, Dudakova L, Muthusamy K, Cheetham ME, Hardcastle AJ, Liskova P, Tuft SJ, Davidson AE. Zarouchlioti C, et al. EBioMedicine. 2024 Oct;108:105328. doi: 10.1016/j.ebiom.2024.105328. Epub 2024 Sep 14. EBioMedicine. 2024. PMID: 39278108 Free PMC article.
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant.
Braddock FL, Gardner JC, Bhattacharyya N, Sanchez-Pintado B, Costa M, Zarouchlioti C, Szabo A, Lišková P, Cheetham ME, Young RD, Thaung C, Davidson AE, Tuft SJ, Hardcastle AJ. Braddock FL, et al. Among authors: zarouchlioti c. Eur J Hum Genet. 2024 Dec;32(12):1583-1589. doi: 10.1038/s41431-024-01687-8. Epub 2024 Aug 21. Eur J Hum Genet. 2024. PMID: 39169229 Free PMC article.
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
Bhattacharyya N, Chai N, Hafford-Tear NJ, Sadan AN, Szabo A, Zarouchlioti C, Jedlickova J, Leung SK, Liao T, Dudakova L, Skalicka P, Parekh M, Moghul I, Jeffries AR, Cheetham ME, Muthusamy K, Hardcastle AJ, Pontikos N, Liskova P, Tuft SJ, Davidson AE. Bhattacharyya N, et al. Among authors: zarouchlioti c. PLoS Genet. 2024 May 7;20(5):e1011230. doi: 10.1371/journal.pgen.1011230. eCollection 2024 May. PLoS Genet. 2024. PMID: 38713708 Free PMC article.
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
Liu S, Sadan AN, Muthusamy K, Zarouchlioti C, Jedlickova J, Pontikos N, Thaung C, Hardcastle AJ, Netukova M, Skalicka P, Dudakova L, Bunce C, Tuft SJ, Davidson AE, Liskova P. Liu S, et al. Among authors: zarouchlioti c. Acta Ophthalmol. 2023 Sep;101(6):679-686. doi: 10.1111/aos.15654. Epub 2023 Mar 7. Acta Ophthalmol. 2023. PMID: 36883248 Free article.
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.
Hafford-Tear NJ, Tsai YC, Sadan AN, Sanchez-Pintado B, Zarouchlioti C, Maher GJ, Liskova P, Tuft SJ, Hardcastle AJ, Clark TA, Davidson AE. Hafford-Tear NJ, et al. Among authors: zarouchlioti c. Genet Med. 2019 Sep;21(9):2092-2102. doi: 10.1038/s41436-019-0453-x. Epub 2019 Feb 8. Genet Med. 2019. PMID: 30733599 Free PMC article.
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, Klein P, Liskova P, Dulla K, Semo M, Vugler AA, Muthusamy K, Dudakova L, Levis HJ, Skalicka P, Hysi P, Cheetham ME, Tuft SJ, Adamson P, Hardcastle AJ, Davidson AE. Zarouchlioti C, et al. Am J Hum Genet. 2018 Apr 5;102(4):528-539. doi: 10.1016/j.ajhg.2018.02.010. Epub 2018 Mar 8. Am J Hum Genet. 2018. PMID: 29526280 Free PMC article.
DNAJ Proteins in neurodegeneration: essential and protective factors.
Zarouchlioti C, Parfitt DA, Li W, Gittings LM, Cheetham ME. Zarouchlioti C, et al. Philos Trans R Soc Lond B Biol Sci. 2018 Jan 19;373(1738):20160534. doi: 10.1098/rstb.2016.0534. Philos Trans R Soc Lond B Biol Sci. 2018. PMID: 29203718 Free PMC article. Review.
Corticotropin-releasing factor (CRF) system localization in human fetal heart.
Chouridou E, Lambropoulou M, Koureta M, Zarouchlioti C, Balgouranidou I, Nena E, Papadopoulos N, Chatzaki E. Chouridou E, et al. Among authors: zarouchlioti c. Hormones (Athens). 2016 Jan-Mar;15(1):55-64. doi: 10.14310/horm.2002.1661. Hormones (Athens). 2016. PMID: 27377597 Free article.
11 results