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by Iglesias, Adriana I and Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Höhn, René and Springelkamp, Henriët and Cuellar-Partida, Gabriel and Gharahkhani, Puya and Bailey, Jessica N. Cooke and Willoughby, Colin E and Li, Xiaohui and Yazar, Seyhan and Nag, Abhishek and Khawaja, Anthony P and Polašek, Ozren and Siscovick, David and Mitchell, Paul and Tham, Yih Chung and Haines, Jonathan L and Kearns, Lisa S and Hayward, Caroline and Shi, Yuan and Van Leeuwen, Elisabeth M and Taylor, Kent D and Wang, Jie Jin and Rochtchina, Elena and Attia, John and Scott, Rodney and Holliday, Elizabeth G and Baird, Paul N and Xie, Jing and Inouye, Michael and Viswanathan, Ananth and Sim, Xueling and Bonnemaijer, Pieter and Rotter, Jerome I and Martin, Nicholas G and Zeller, Tanja and Mills, Richard A and Staffieri, Sandra E and Jonas, Jost B and Schmidtmann, Irene and Boutin, Thibaud and Kang, Jae H and Lucas, Sionne E. M and Wong, Tien Yin and Beutel, Manfred E and Wilson, James F and Allingham, R. Rand and Brilliant, Murray H and Budenz, Donald L and Christen, William G and Fingert, John and Friedman, David S and Gaasterland, Douglas and Gaasterland, Terry and Hauser, Michael A and Kraft, Peter and Lee, Richard K and Lichter, Paul R and Liu, Yutao and Loomis, Stephanie J and Moroi, Sayoko E and Pericak-Vance, Margaret A and Realini, Anthony and Richards, Julia E and Schuman, Joel S and Scott, William K and Singh, Kuldev and Sit, Arthur J and Vollrath, Douglas and Weinreb, Robert N and Wollstein, Gadi and Zack, Donald J and Zhang, Kang and Donnelly, Peter and Barroso, Ines and Blackwell, Jenefer M and Bramon, Elvira and Brown, Matthew A and Casas, Juan P and Corvin, Aiden and Deloukas, Panos and Duncanson, Audrey and Jankowski, Janusz and Markus, Hugh S and Mathew, Christopher G and Palmer, Colin N. A and Plomin, Robert and Rautanen, Anna and Sawcer, Stephen J and Trembath, Richard C and Wood, Nicholas W and Spencer, Chris C. A and Band, Gavin and Bellenguez, Céline and Freeman, Colin and Hellenthal, Garrett and Giannoulatou, Eleni and Pirinen, Matti and ... and Blue Mountains Eye Study-GWAS Grp and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consor and Blue Mountains Eye Study—GWAS group and Wellcome Trust Case Control Consortium 2 (WTCCC2)
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 11
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
DECORIN | CHROMATIN STATES | POLYMORPHISMS | RISK-FACTOR | MULTIDISCIPLINARY SCIENCES | MOUSE | GENE-EXPRESSION | MUTATIONS | HERITABILITY | LUMICAN | KERATOCONUS | Glaucoma | Cornea | Genes | Myopia | Association analysis | Genomes | Gene expression | Tissues | Connective tissue | Keratoconus | Collagen | Eye diseases | Extracellular matrix | Lumican - metabolism | Glaucoma, Open-Angle - genetics | Humans | Corneal Diseases - metabolism | Corneal Dystrophies, Hereditary - ethnology | Corneal Diseases - genetics | Ehlers-Danlos Syndrome - genetics | Corneal Dystrophies, Hereditary - pathology | Loeys-Dietz Syndrome - metabolism | Mendelian Randomization Analysis | Fibrillin-1 - metabolism | Cornea - pathology | Keratoconus - pathology | Corneal Diseases - pathology | Decorin - genetics | Gene Expression | Eye Diseases, Hereditary - pathology | Lumican - genetics | ADAMTS Proteins - metabolism | Proteoglycans - metabolism | Ehlers-Danlos Syndrome - ethnology | European Continental Ancestry Group | Myopia - pathology | Cornea - metabolism | Myopia - ethnology | Loeys-Dietz Syndrome - pathology | Corneal Diseases - ethnology | Marfan Syndrome - metabolism | Marfan Syndrome - pathology | Cornea - abnormalities | Quantitative Trait Loci | Proteoglycans - genetics | ADAMTS Proteins - genetics | Transforming Growth Factor beta2 - metabolism | Corneal Dystrophies, Hereditary - genetics | Glaucoma, Open-Angle - pathology | Keratoconus - metabolism | Loeys-Dietz Syndrome - ethnology | Glaucoma, Open-Angle - ethnology | Myopia - metabolism | Ehlers-Danlos Syndrome - pathology | Marfan Syndrome - ethnology | Keratoconus - genetics | Glaucoma, Open-Angle - metabolism | Fibrillin-1 - genetics | Eye Diseases, Hereditary - ethnology | Genome-Wide Association Study | Quantitative Trait, Heritable | Corneal Dystrophies, Hereditary - metabolism | Marfan Syndrome - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Asian Continental Ancestry Group | Keratoconus - ethnology | Ehlers-Danlos Syndrome - metabolism | Loeys-Dietz Syndrome - genetics | Polymorphism, Single Nucleotide | Transforming Growth Factor beta2 - genetics | Genome, Human | Decorin - metabolism | Eye Diseases, Hereditary - metabolism | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 07/2006, Volume 38, Issue 7, pp. 755 - 757
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 02/2012, Volume 287, Issue 7, pp. 5059 - 5069
Compromised clearance of all-trans-retinal (atRAL), a component of the retinoid cycle, increases the susceptibility of mouse retina to acute light-induced... 
VISUAL CYCLE | OXIDATIVE STRESS | ACTIVATED PROTEIN-KINASE | 5-HT1A RECEPTORS | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHOSPHOLIPASE-C | IN-VIVO | RECESSIVE RETINITIS-PIGMENTOSA | GENE ABCR | BINDING-PROPERTIES | NEUTROPHIL NADPH-OXIDASE | Reactive Oxygen Species - metabolism | Receptor, Serotonin, 5-HT2A - genetics | Calcium - metabolism | Humans | NADPH Oxidases - metabolism | Corneal Dystrophies, Hereditary - genetics | Type C Phospholipases - metabolism | Retinaldehyde - metabolism | Alcohol Oxidoreductases - genetics | ATP-Binding Cassette Transporters - genetics | Corneal Dystrophies, Hereditary - pathology | ATP-Binding Cassette Transporters - metabolism | NADPH Oxidases - genetics | Signal Transduction | Light - adverse effects | Receptor, Muscarinic M3 - metabolism | Alcohol Oxidoreductases - metabolism | Corneal Dystrophies, Hereditary - metabolism | Receptor, Muscarinic M3 - genetics | Serotonin 5-HT2 Receptor Antagonists - pharmacology | Mice, Knockout | Macular Degeneration - metabolism | Animals | Macular Degeneration - genetics | Type C Phospholipases - genetics | Mice | Inositol 1,4,5-Trisphosphate - genetics | Photoreceptor Cells, Vertebrate - metabolism | Receptor, Serotonin, 5-HT2A - metabolism | Inositol 1,4,5-Trisphosphate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Macular Degeneration - pathology | Index Medicus
Journal Article
The FEBS Journal, ISSN 1742-464X, 01/2018, Volume 285, Issue 1, pp. 101 - 114
Journal Article
Journal Article
Structure, ISSN 0969-2126, 11/2017, Volume 25, Issue 11, pp. 1740 - 1750.e2
A major cause of visual impairment, corneal dystrophies result from accumulation of protein deposits in the cornea. One of the proteins involved is... 
extracellular matrix protein | cysteine-rich CROPT domain | multi-domain protein | pathological mutants | crystal structure | corneal dystrophy | fasciclin FAS1 domain | GENOTYPE-PHENOTYPE CORRELATIONS | KERATO-EPITHELIN MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | AMYLOID DEPOSITS | STRUCTURE ALIGNMENT | CELL BIOLOGY | BIOPHYSICS | STRUCTURE VALIDATION | MACROMOLECULAR CRYSTALLOGRAPHY | CHINESE PATIENTS | BIGH3 GENE-MUTATIONS | STRUCTURE PREDICTION | GRANULAR DYSTROPHY | Protein Aggregates | Humans | Integrins - chemistry | Corneal Dystrophies, Hereditary - genetics | Integrins - genetics | Crystallography, X-Ray | Transforming Growth Factor beta - chemistry | Integrins - metabolism | Corneal Dystrophies, Hereditary - pathology | Cloning, Molecular | HEK293 Cells | Protein Interaction Domains and Motifs | Binding Sites | Protein Aggregation, Pathological - genetics | Extracellular Matrix Proteins - metabolism | Recombinant Proteins - metabolism | Amino Acid Sequence | Protein Conformation, alpha-Helical | Extracellular Matrix Proteins - chemistry | Gene Expression | Genetic Vectors - chemistry | Extracellular Matrix Proteins - genetics | Genetic Vectors - metabolism | Models, Molecular | Recombinant Proteins - chemistry | Recombinant Proteins - genetics | Corneal Dystrophies, Hereditary - metabolism | Sequence Homology, Amino Acid | Sequence Alignment | Transforming Growth Factor beta - genetics | Protein Conformation, beta-Strand | Protein Binding | Mutation | Transforming Growth Factor beta - metabolism | Protein Aggregation, Pathological - metabolism | Index Medicus
Journal Article
Journal Article
American Journal of Physiology - Cell Physiology, ISSN 0363-6143, 2016, Volume 311, Issue 5, pp. C735 - C748
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 | Proteins | Eye diseases | Cornea | Genetic disorders | Mutation | Crystal structure | Homology | Cell surface | Endothelium | Membrane proteins | Pathogenicity | Packing | Corneal dystrophy | Dystrophy | Protein transport | Protein structure | 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 | Anion Transport Proteins - genetics | Amino Acid Substitution | Gene mutations | Analysis | Crystals | Genetic aspects | Models | Structure | Glutamine | Index Medicus
Journal Article