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Journal Article
Journal Article
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 | SLC4A11 | corneal dystrophy | Fuchs endothelial dystrophy (FECD) | ANION-EXCHANGERS | homology modeling; congenital hereditary endothelial dystrophy (CHED) | NUCLEIC-ACIDS | SWISS-MODEL | HARBOYAN SYNDROME | PROTEIN STRUCTURES | HEREDITARY ENDOTHELIAL DYSTROPHY | STRUCTURE VALIDATION | EVOLUTIONARY CONSERVATION | GENETICS & HEREDITY | TRANSPORT FUNCTION | 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
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2013, Volume 8, Issue 7, pp. e67546 - e67546
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
Journal Article
Human Mutation, ISSN 1059-7794, 05/2018, Volume 39, Issue 5, pp. 676 - 690
SLC4A11 mutations cause cases of congenital hereditary endothelial dystrophy (CHED), Harboyan syndrome (HS), and Fuchs endothelial corneal dystrophy (FECD).... 
water flux | SLC4A11 | Fuchs endothelial corneal dystrophy | congenital hereditary endothelial dystrophy | cornea | endoplasmic reticulum retention | CYTOPLASMIC DOMAIN | PROTEIN | MUTATIONAL SPECTRUM | ION-TRANSPORT | HARBOYAN SYNDROME | HEREDITARY ENDOTHELIAL DYSTROPHY | GENE | GENETICS & HEREDITY | CELL LINE | COTRANSPORTER | CHED2 | Amino Aci