TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation

TACSTD2 in gelatinous drop-like corneal dystrophy: variant functional analysis and expression in the cornea after limbal stem cell transplantation

Abstract Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive eye disease. GDLD is characterized by the loss of barrier function in corneal epithelial cells (CECs) and amyloid deposition due to pathogenic variants in the TACSTD2 gene. Limbal stem cell transplantation (LSCT) ha...

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Main Authors: Liubov O. Skorodumova, Ekaterina N. Grafskaia, Daria D. Kharlampieva, Dmitry I. Maltsev, Tatiana V. Petrova, Alexandra V. Kanygina, Elena V. Fedoseeva, Pavel V. Makarov, Boris E. Malyugin
Format: Article
Language:English
Published: Nature Publishing Group 2024-07-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00284-x
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