Article
From Genes to Disease: Reassessing LOXHD1 and AGBL1's Contribution to Fuchs' Dystrophy.
International journal of molecular sciences - 3 Apr 2025
Tsedilina Tatiana Romanovna, Sharova Elena Ivanovna, Kanygina Alexandra Vasilevna, Malyugin Boris Eduardovich, Antonova Olga Pavlovna, Belodedova Alexandra Vladimirovna, Tkachenko Ivan Sergeevich, Gelyastanov Aslan Mukhtarovich, Zolotarev Andrey Vladimirovich, Klokov Aleksey Vladimirovich, Murashev Aleksandr Olegovich, Fedyushkina Irina Viktorovna, Generozov Edward Viktorovich, Skorodumova Liubov Olegovna
Abstract excerpt
Fuchs' endothelial corneal dystrophy (FECD) is a genetically complex eye disease associated with multiple genes. A recent systematic review has raised concerns about the causal role of variants in the LOXHD1 and AGBL1 genes in the development of FECD. Conflicting data have been reported on the expression of the LOXHD1 and AGBL1 genes in the corneal endothelium. Furthermore, only partial segregation of the...
Read the complete abstract on PubMedTopics
- Humans
- Fuchs' Endothelial Dystrophy
- Scavenger Receptors, Class E