A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-07-11

AUTHORS

Yukiko Nagahara, Motokazu Tsujikawa, Toru Takigawa, Peng Xu, Chifune Kai, Satoshi Kawasaki, Mina Nakatsukasa, Tsutomu Inatomi, Shigeru Kinoshita, Kohji Nishida

ABSTRACT

We identified a novel mutation of the tumor-associated calcium signal transducer 2 (TACSTD2) gene in a Japanese patient with gelatinous drop-like corneal dystrophy (GDLD). Genetic analysis revealed a novel homozygous mutation (c.798delG, which may result in frameshift mutation p.Lys267SerfsTer4) in the TACSTD2 gene. This mutated gene was devoid of its original function in helping the claudin (CLDN) 1 and 7 proteins transfer from the cytoplasm to the plasma membrane. More... »

PAGES

33

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-019-0060-z

DOI

http://dx.doi.org/10.1038/s41439-019-0060-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1117915221

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/31666974


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