Harboyan syndrome: novel SLC4A11 mutation, clinical manifestations, and outcome of corneal transplantation
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-00834-5
Abstract: Harboyan syndrome or corneal dystrophy and progressive deafness (MIM #217400) is characterized by congenital hereditary endothelial dystrophy (CHED) and progressive, sensorineural hearing loss. Mutations in SLC4A11 are responsible for this rare genetic syndrome. Eight patients… read more here.
Keywords: harboyan syndrome; hearing loss; slc4a11; mutation ... See more keywords
Altered gene expression in slc4a11−/− mouse cornea highlights SLC4A11 roles
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-98921-w
Abstract: SLC4A11 is a H+/NH3/water transport protein, of corneal endothelial cells. SLC4A11 mutations cause congenital hereditary endothelial dystrophy and some cases of Fuchs endothelial corneal dystrophy. To probe SLC4A11’s roles, we compared gene expression in RNA… read more here.
Keywords: cornea; gene expression; expression; slc4a11 ... See more keywords
Importance of Axial Length and Functional Corneal Endothelial Cells in Descemet Membrane Endothelial Keratoplasty.
Sign Up to like & getrecommendations! Published in 2017 at "Cornea"
DOI: 10.1097/ico.0000000000001385
Abstract: REFERENCES 1. Aldave AJ, Han J, Frausto RF. Genetics of the corneal endothelial dystrophies: an evidencebased review. Clin Genet. 2013;84:109–119. 2. Shah SS, Al-Rajhi A, Brandt JD, et al. Mutation in the SLC4A11 gene associated… read more here.
Keywords: corneal; corneal endothelial; dystrophy; autosomal recessive ... See more keywords