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Human Mutation, ISSN 1059-7794, 11/2010, Volume 31, Issue 11, pp. 1261 - 1268
  Homozygous mutations in the Borate Cotransporter SLC4A11 cause two early-onset corneal dystrophies: congenital hereditary endothelial dystrophy (CHED) and... 
SLC4A11 | Anterior segment | Corneal endothelium | Fuchs corneal dystrophy
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 03/2019, Volume 40, Issue 2, pp. 91 - 98
Background: Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal... 
corneal dystrophy | Harboyan | CDPD | SLC4A11 gene | Endothelium
Journal Article
Redox Biology, ISSN 2213-2317, 09/2019, Volume 26, pp. 101260 - 101260
SLC4A11 is a NH sensitive membrane transporter with H channel-like properties that facilitates Glutamine catabolism in Human and Mouse corneal endothelium... 
Ammonia | Reactive oxygen species | Slc4a11 | Mitochondrial uncoupling | Glutamine | Index Medicus
Journal Article
EXPERIMENTAL EYE RESEARCH, ISSN 0014-4835, 03/2019, Volume 180, pp. 86 - 91
SLC4A11 mutations are associated with Fuch's endothelial corneal dystrophy (FECD), congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome... 
Intracellular pH | Ammonia | MUTANTS | PROTEIN | Patch clamp | OPHTHALMOLOGY | SLC4A11 | Proton flux
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 07/2019, Volume 60, Issue 8, pp. 3084 - 3090
PURPOSE. To report molecular genetic findings in six probands with congenital hereditary endothelial dystrophy (CHED) variably associated with hearing loss... 
MUTATION ANALYSIS | PHENOTYPE | SLC4A11 | congenital hereditary endothelial dystrophy | corneal endothelial-like cells model | IDENTIFICATION | PLURIPOTENT STEM-CELLS | MUTANTS | GENE | DYSTROPHY | OPHTHALMOLOGY | induced pluripotent stem cells | GENERATION
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
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 08/2018, Volume 59, Issue 10, pp. 4258 - 4267
Journal Article
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY, ISSN 0363-6143, 10/2013, Volume 305, Issue 7, pp. C716 - C727
Slc4a11, a member of the solute linked cotransporter 4 family that is comprised predominantly of bicarbonate transporters, was described as an electrogenic... 
borate | PHYSIOLOGY | CL-/HCO3-EXCHANGE | SLC4A11 | INTRACELLULAR PH REGULATION | BOVINE CORNEAL ENDOTHELIUM | CELL BIOLOGY | TRANSPORT | Na+ permeability | HEREDITARY ENDOTHELIAL DYSTROPHY | pH | COTRANSPORTER | bicarbonate | MUTATIONS | KIDNEY | EXPRESSION | CHED2
Journal Article
Human mutation, ISSN 1059-7794, 11/2010, Volume 31, Issue 11, pp. 1261 - 1268
Homozygous mutations in the sodium-bicarbonate transporter SLC4A11 cause two early onset corneal dystrophies: congenital hereditary endothelial dystrophy... 
SLC4A11 | anterior segment | corneal endothelium | Fuchs corneal dystrophy
Journal Article
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
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