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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease

7 May 2024

Abstract excerpt

Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans characterised to date. Up to 80% of European FECD cases have been attributed to expansion of a non-coding CTG repeat element (termed CTG18.1) located within the ubiquitously expressed transcription factor encoding gene, TCF4. The non-coding nature of the repeat and the...

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PMID: 38713708
DOI: 10.1371/journal.pgen.1011230

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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseasePMID 38713708Read ↗

Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseSemantic proximity Read ↗

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