Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy

A Novel Nonsense Mutation of the SLC4A11 Gene in a Korean Patient With Autosomal Recessive Congenital Hereditary Endothelial Dystrophy

(2013) Shin Hae Park et al.   CORNEA

Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases

(2013) Gonzalo L. Vilas et al.   HUMAN MOLECULAR GENETICS

Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy

(2012) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Three-Year Visual Acuity Outcomes after Descemet's Stripping Automated Endothelial Keratoplasty

(2012) Jennifer Y. Li et al.   OPHTHALMOLOGY

A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy

(2012) Eric D. Wieben et al.   PLoS One

A Biochemical Framework for SLC4A11, the Plasma Membrane Protein Defective in Corneal Dystrophies

(2011) Gonzalo L. Vilas et al.   BIOCHEMISTRY

Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused bySLC4A11mutations

(2011) Gonzalo L. Vilas et al.   HUMAN MUTATION

Replication of TCF4 through Association and Linkage Studies in Late-Onset Fuchs Endothelial Corneal Dystrophy

(2011) Yi-Ju Li et al.   PLoS One

Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetic Study (SN--DREAMS III): Study design and research methodology

(2011) Swakshyar Saumya Pal et al.   BMC Ophthalmology

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

(2010) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Absence of Phenotype-Genotype Correlation of Patients Expressing Mutations in the SLC4A11 Gene

(2010) Jodhbir Singh Mehta et al.   CORNEA

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophya

(2010) S. Amer Riazuddin et al.   HUMAN MUTATION

The Chennai glaucoma study: Prevalence and risk factors for glaucoma in cataract operated eyes in urban Chennai

(2010) Ronnie George et al.   INDIAN JOURNAL OF OPHTHALMOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

E2-2 Protein and Fuchs's Corneal Dystrophy

(2010) Keith H. Baratz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India

(2010) Boomiraj Hemadevi et al.   BMC Ophthalmology

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Identification of Mutations in the SLC4A11 Gene in Patients With Recessive Congenital Hereditary Endothelial Dystrophy

(2008) Boomiraj Hemadevi   ARCHIVES OF OPHTHALMOLOGY

Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients

(2008) J-W Mok et al.   EYE

Mutation in theSLC4A11Gene Associated with Autosomal Recessive Congenital Hereditary Endothelial Dystrophy in a Large Saudi Family

(2008) Shaival S. Shah et al.   OPHTHALMIC GENETICS