Results 111 to 120 of about 97,726 (210)

Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population. [PDF]

Front Genet, 2019
Zhang J, Wu D, Li Y, Fan Y, Chen H, Hong J, Xu J.   +6 more
europepmc   +1 more source

CRISPR Base Editing Correction of TGFBI Mutations in Autosomal Dominant Corneal Dystrophies. [PDF]

Invest Ophthalmol Vis Sci
Chen J, Davison CW, Ellis J, Blevins B, Presley W, Myers MT, Kong D, Hou Z, Mian SI, Prasov L, Zhang Y.   +10 more
europepmc   +1 more source

Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies. [PDF]

Sci Rep, 2019
Malhotra D, Loganathan SK, Chiu AM, Lukowski CM, Casey JR.   +4 more
europepmc   +1 more source

Impact of Stromal Deposit Depth on Pneumatic Dissection During DALK for TGFBI Corneal Dystrophies. [PDF]

J Clin Med
Lucchino L, Visioli G, Pocobelli G, Scarinci F, Colabelli Gisoldi RAM, Komaiha C, Buffon G, Marenco M, Lambiase A, Pocobelli A.   +9 more
europepmc   +1 more source

Targeted AAV6 gene therapy restores corneal endothelial function in three hereditary corneal dystrophies. [PDF]

Cell Rep Med
Zhang BN, Qi B, Chen S, Su J, Li G, Wang X, Ren Z, Zhang H, Cheng J, Qu J, Yang Y, Zhou Q, Cong L, Xie L.   +13 more
europepmc   +1 more source

Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights. [PDF]

Clin Exp Ophthalmol
Liskova P, Skalicka P, Dudakova L, Vincent AL.   +3 more
europepmc   +1 more source

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

Human transforming growth factor beta-induced (TGFBI), is a gene responsible for various corneal dystrophies. TGFBI produces a protein called TGFBI, which is involved in cell adhesion and serves as a recognition sequence for integrins.
Schorderet, Daniel F., Cortes-Gonzalez, Vianney, Kheir, Valeria, Zenteno, Juan C.   +3 more
core   +1 more source

FAMILIAL CORNEAL DYSTROPHY [PDF]

British Journal of Ophthalmology, 1961
openaire   +2 more sources

SPARCL1 sparkles new insight into corneal dystrophies. [PDF]

Eur J Hum Genet
Turunen JA.
europepmc   +1 more source

[Bilateral corneal dystrophy].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2009
Uhlig, C, Groppe, M, Böcker, W, Busse, H, Saeger, W   +4 more
openaire   +2 more sources