Divya Venkataraman

TL;DR: Seven different mutations in the SLC4A11 gene are described in ten families with autosomal recessive CHED, which cause loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay.

TL;DR: The data suggests that SLC4A11 haploinsufficiency and gradual accumulation of the aberrant misfolded protein may play a role in FECD pathology and that reduced levels of SLC3A11 influence the long-term viability of the neural crest derived corneal endothelial cells.

TL;DR: Identification of a single mutation in this study suggests that NTF4 mutations are a rare cause of POAG in Chinese people.

TL;DR: Polymorphisms in LOXL1 confer risk to XFS/XFG in the Chinese, and the lower incidence of XFS compared to other populations suggests additional genetic or environmental factors to have a major influence on the phenotypic expression of X FS in theChinese.

TL;DR: Polymorphisms within TCF4, a gene which has been implicated in FCD susceptibility among Europeans, was also found to be strongly associated with FCD in Chinese.