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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
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 02/2002, Volume 39, Issue 2, pp. 110 - 112
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2002, Volume 39, Issue 2, p. 110
Journal Article
Ophthalmic Genetics, ISSN 0167-6784, 06/1997, Volume 18, Issue 2, pp. 87 - 91
We studied two siblings with the rare association of corneal dystrophy and perceptive deafness (Harboyan syndrome). To our knowledge, this is the third... 
Harboyan syndrome | Genetic counseling | Sensorineural deafness | Hereditary corneal dystrophy | Autosomal recessive inheritance | genetic counseling | GENETICS & HEREDITY | OPHTHALMOLOGY | autosomal recessive inheritance | hereditary corneal dystrophy | sensorineural deafness
Journal Article
Human Mutation, ISSN 1059-7794, 02/2012, Volume 33, Issue 2, pp. 419 - 428
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 09/2009, Volume 284, Issue 39, pp. 26882 - 26896
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
Journal Article
Expert Review of Ophthalmology, ISSN 1746-9899, 08/2012, Volume 7, Issue 4, pp. 363 - 375
Fuchs' corneal dystrophy (FCD) is a common late-onset genetic disorder of the corneal endothelium. It causes loss of endothelial cell density and excrescences... 
cornea guttata | FCD | guttae | Fuchs' corneal dystrophy | corneal endothelium | epithelial-mesenchymal transition | unfolded protein | Descemet membrane | oxidative stress
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2017, Volume 12, Issue 9, pp. e0184906 - e0184906
Vps35 (vacuolar protein sorting 35) is a major component of retromer that selectively promotes endosome-to-Golgi retrieval of transmembrane proteins.... 
PROTEIN | ION-TRANSPORT | ENDOTHELIAL DYSTROPHY | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | RETROMER COMPLEX | VPS35 | ALPHA-SYNUCLEIN | MUTATIONS | GOLGI RETRIEVAL | PARKINSONS-DISEASE | Retina - metabolism | Epithelial Cells - metabolism | Humans | Vesicular Transport Proteins - genetics | Cell Proliferation - physiology | Epithelial Cells - pathology | Mice, Transgenic | Corneal Dystrophies, Hereditary - metabolism | Anion Transport Proteins - metabolism | Blotting, Western | Symporters - metabolism | Cornea - metabolism | Microscopy, Confocal | Animals | Transfection | Vesicular Transport Proteins - deficiency | Corneal Dystrophies, Hereditary - pathology | Biological Transport, Active - physiology | Fluorescent Antibody Technique | HEK293 Cells | Cornea - pathology | Retina - pathology | Disease Models, Animal | Physiological aspects | Corneal diseases | Development and progression | Genetic aspects | Research | Membrane proteins | Cell proliferation | Neurosciences | Cornea | Parkinson's disease | Neuropathology | Pathogenesis | Epithelial cells | Trafficking | Heterozygotes | Retina | Cell surface | Risk factors | Eye | Proteins | Surgery | Genetics | Physiology | Protein transport | Alzheimer's disease | Movement disorders | Edema | Congenital diseases | Neurodegenerative diseases | Stroma | Endothelium | Golgi apparatus | Medicine | Studies | Neurology | Hospitals | Corneal dystrophy | Mutation | Dystrophy | Index Medicus
Journal Article