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Human Mutation, ISSN 1059-7794, 03/2017, Volume 38, Issue 3, pp. 279 - 288
We studied the structural effects of point mutations of a membrane protein that cause genetic disease. SLC4A11 is a membrane transport protein (OH − /H + /NH 3... 
congenital hereditary endothelial dystrophy (CHED), Fuchs endothelial dystrophy (FECD), corneal dystrophy | SLC4A11, homology modeling | PROTEIN | INDIAN FAMILIES | SLC4A11 | corneal dystrophy | Fuchs endothelial dystrophy (FECD) | homology modeling; congenital hereditary endothelial dystrophy (CHED) | SWISS-MODEL | HEREDITARY ENDOTHELIAL DYSTROPHY | STRUCTURE VALIDATION | GENE | EVOLUTIONARY CONSERVATION | GENETICS & HEREDITY | TRANSPORT FUNCTION | CONSURF | BLOOD-CELL BAND-3 | Antiporters - chemistry | Humans | Protein Multimerization | Corneal Dystrophies, Hereditary - genetics | Structure-Activity Relationship | Anion Transport Proteins - chemistry | Biological Transport | Protein Interaction Domains and Motifs - genetics | Antiporters - genetics | HEK293 Cells | Conserved Sequence | Protein Domains | Catalysis | Amino Acid Sequence | Gene Expression | Genetic Predisposition to Disease | Models, Molecular | Antiporters - metabolism | Corneal Dystrophies, Hereditary - metabolism | Anion Transport Proteins - metabolism | Alleles | Protein Conformation | Mutation | Anion Transport Proteins - genetics | Amino Acid Substitution | Genetic disorders | Gene mutations | Analysis | Crystals | Genetic aspects | Models | Structure | Glutamine | Endothelium | Proteins | Eye diseases | Cornea | Crystal structure | Homology | Cell surface | Membrane proteins | Pathogenicity | Packing | Corneal dystrophy | Dystrophy | Protein transport | Protein structure | Index Medicus
Journal Article
European Journal of Ophthalmology, ISSN 1120-6721, 11/2016, Volume 26, Issue 6, pp. 536 - 539
Purpose: Fuchs endothelial corneal dystrophy (FECD) might be managed by drug treatment before becoming severe enough to require surgery. For a clinical trial... 
FECD | Cornea | Retrospective chart review | Specular photomicroscopy | Endothelium | DENSITY | CORNEAL-DYSTROPHY | EYES | OPHTHALMOLOGY | AGE
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 01/2017, Volume 58, Issue 1, pp. 343 - 352
Journal Article
EBioMedicine, ISSN 2352-3964, 02/2017, Volume 16, Issue C, pp. 292 - 301
Corneal endothelium (CE) is among the most metabolically active tissues in the body. This elevated metabolic rate helps the CE maintain corneal transparency by... 
Glutaminolysis | Energy metabolism | SLC4A11 ammonia transporter | Fuchs' endothelial corneal dystrophy (FECD) | Congenital hereditary endothelial dystrophy (CHED) | Corneal endothelium | Fuchs’ endothelial corneal dystrophy (FECD) | MEDICINE, RESEARCH & EXPERIMENTAL | CELLS | PHOSPHATE-ACTIVATED GLUTAMINASE | PENETRATING KERATOPLASTY | SLC4A11 MUTATIONS | PUMP | GAMMA-GLUTAMYL-TRANSPEPTIDASE | METABOLISM | DYSTROPHY | GLUCOSE | FLUID TRANSPORT | Epithelium, Corneal - cytology | Humans | Corneal Dystrophies, Hereditary - genetics | Glutamine - metabolism | Fuchs' Endothelial Dystrophy - pathology | Endothelium, Corneal - metabolism | SLC4A Proteins - metabolism | Amino Acid Transport System X-AG - metabolism | Corneal Dystrophies, Hereditary - pathology | Adenosine Triphosphate - metabolism | SLC4A Proteins - genetics | Ion Transport | Fuchs' Endothelial Dystrophy - metabolism | Cell Line | Rabbits | Fuchs' Endothelial Dystrophy - genetics | Gene Expression | Cells, Cultured | Amino Acid Transport System X-AG - genetics | Corneal Dystrophies, Hereditary - metabolism | Reverse Transcriptase Polymerase Chain Reaction | Citric Acid Cycle | Mice, Knockout | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Energy Metabolism | Epithelium, Corneal - metabolism | Mutation | Microscopy, Fluorescence | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 02/2012, Volume 33, Issue 2, pp. 419 - 428
Journal Article
Clinical Ophthalmology, ISSN 1177-5483, 02/2016, Volume 2016, Issue Issue 1, pp. 321 - 330
Gustavo Vedana, Guadalupe Villarreal Jr, Albert S Jun Wilmer Eye Institute, Johns Hopkins Medical Institutions, Baltimore, MD, USA Abstract: Fuchs endothelial... 
endothelial keratoplasty | Descemet membrane endothelial keratoplasty (DMEK) | corneal transplantation | Descemet stripping automated endothelial keratoplasty (DSAEK) | corneal endothelial cell | Fuchs endothelial corneal dystrophy (FECD)
Journal Article
Journal Article
Cellular and Molecular Biology, ISSN 0145-5680, 2015, Volume 61, Issue 1, pp. 56 - 63
Journal Article
Molecular Microbiology, ISSN 0950-382X, 07/2000, Volume 37, Issue 2, pp. 274 - 286
Journal Article
Molecular Biology Reports, ISSN 0301-4851, 4/2013, Volume 40, Issue 4, pp. 2977 - 2983
Journal Article
Open Ophthalmology Journal, ISSN 1874-3641, 2018, Volume 12, Issue 1, pp. 154 - 163
Fuchs Endothelial Corneal Dystrophy (FECD) is a progressive disease that affects the corneal endothelium in both eyes. Recent studies have identified a novel... 
FECD | TCF4 | ICD3 | SNP | ECM | Endothelial corneal dystrophy
Journal Article
Clinical Ophthalmology, ISSN 1177-5467, 02/2016, Volume 10, pp. 321 - 330
Journal Article