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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 tissues | Keratoconus | Collagen | Eye diseases | Extracellular matrix | Index Medicus
Journal Article
Nature communications, ISSN 2041-1723, 05/2018, Volume 9, Issue 1, p. 1864
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide... 
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 | Cornea | Decorin | Corneal Dystrophies, Hereditary | Myopia | Corneal Diseases | Marfan Syndrome | Keratoconus | ADAMTS Proteins | Lumican | Transforming Growth Factor beta2 | Ehlers-Danlos Syndrome | Glaucoma, Open-Angle | Fibrillin-1 | Eye Diseases, Hereditary | Proteoglycans | Wellcome Trust Case Control Consortium 2 (WTCCC2) | Blue Mountains Eye Study—GWAS group | Loeys-Dietz Syndrome | NEIGHBORHOOD Consortium
Journal Article
Neuron, ISSN 0896-6273, 04/2014, Volume 82, Issue 2, pp. 334 - 349
The ocular motility disorder “Congenital fibrosis of the extraocular muscles type 1” (CFEOM1) results from heterozygous mutations altering the motor and third... 
PROTEIN 1B | CONGENITAL FIBROSIS | KINESIN KIF21A | PERIPHERAL NERVOUS-SYSTEM | MAP1B | EXTRAOCULAR-MUSCLES TYPE-1 | NEURONS | GUIDANCE | DYSINNERVATION | MICROTUBULE DYNAMICS | NEUROSCIENCES | Age Factors | Microtubule-Associated Proteins - genetics | Embryo, Mammalian | Cell Count | Humans | Oculomotor Nerve - pathology | Green Fluorescent Proteins - genetics | Neural Pathways - pathology | Ocular Motility Disorders - genetics | Oculomotor Nerve - ultrastructure | Axons - ultrastructure | HEK293 Cells | Kinesin - genetics | Disease Models, Animal | Animals, Newborn | Green Fluorescent Proteins - metabolism | Fibrosis - genetics | Ocular Motility Disorders - pathology | Eye Diseases, Hereditary - pathology | Eye Movements - physiology | Eye Diseases, Hereditary - physiopathology | Fibrosis - physiopathology | Gene Expression Regulation - genetics | Mice, Transgenic | Mutation - genetics | Eye Diseases, Hereditary - genetics | Kinesin - metabolism | Microtubule-Associated Proteins - physiology | Eye Movements - genetics | Animals | Axons - pathology | Neural Pathways - metabolism | Mice | Ocular Motility Disorders - physiopathology | Fibrosis - pathology | Neural Pathways - ultrastructure | Neurosciences | Genetic aspects | Genetic disorders | Analysis | Proteins | Pathology | Motility | Pathogenesis | Neurons | Rodents | Mutation | Experiments | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2015, Volume 96, Issue 6, pp. 971 - 978
Heparan and chondroitin/dermatan sulfated proteoglycans have a wide range of roles in cellular and tissue homeostasis including growth factor function,... 
PROTEOGLYCANS | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME | INITIATION | BIOSYNTHESIS | DISEASE | GENETICS & HEREDITY | DISORDERS | HEPARAN-SULFATE | B3GALT6 | SPECTRUM | XYLOSYLTRANSFERASE-II | Immunohistochemistry | Osteochondrodysplasias - pathology | Retinal Detachment - pathology | Humans | Cataract - pathology | Molecular Sequence Data | Male | Retinal Detachment - drug therapy | Hearing Disorders - genetics | Osteochondrodysplasias - drug therapy | Osteochondrodysplasias - genetics | Base Sequence | Osteoporosis - diagnostic imaging | Diphosphonates - therapeutic use | Craniofacial Abnormalities - pathology | Osteoporosis - genetics | Pentosyltransferases - blood | Real-Time Polymerase Chain Reaction | Craniofacial Abnormalities - genetics | Frameshift Mutation - genetics | Pentosyltransferases - genetics | Eye Diseases, Hereditary - pathology | Craniofacial Abnormalities - drug therapy | Retinal Detachment - genetics | Sequence Analysis, DNA | Eye Diseases, Hereditary - drug therapy | Eye Diseases, Hereditary - genetics | Radiography | Homozygote | Exome - genetics | Pedigree | Hearing Disorders - pathology | Cataract - genetics | Cataract - drug therapy | Genetic disorders | Proteoglycans | Gene mutations | Physiological aspects | Nucleotide sequencing | Identification and classification | Health aspects | Methods | DNA sequencing | Homeostasis | Genotype & phenotype | Genetics | Mutation | RNA-protein interactions | Index Medicus | Report
Journal Article
Journal of Neurophysiology, ISSN 0022-3077, 08/2017, Volume 118, Issue 2, pp. 845 - 854
Journal Article
Journal Article
European journal of human genetics, ISSN 1018-4813, 2017, Volume 25, Issue 5, pp. 591 - 599
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, pp. e0137072 - e0137072
Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a... 
METABOTROPIC GLUTAMATE-RECEPTOR | LIGHT RESPONSE | RABBIT RETINA | MULTIDISCIPLINARY SCIENCES | DEPOLARIZING BIPOLAR | SYNAPTIC-TRANSMISSION | ROD BIPOLAR CELLS | GENE-EXPRESSION | FRAMESHIFT MUTATION | RETINITIS-PIGMENTOSA | MAMMALIAN RETINA | RGS Proteins - genetics | Night Blindness - metabolism | Humans | Heterotrimeric GTP-Binding Proteins - metabolism | Male | Heterotrimeric GTP-Binding Proteins - genetics | Myopia - metabolism | Night Blindness - pathology | RGS Proteins - metabolism | Female | Genetic Diseases, X-Linked - genetics | Night Blindness - genetics | Genetic Diseases, X-Linked - physiopathology | Disease Models, Animal | Genetic Predisposition to Disease - genetics | Eye Diseases, Hereditary - pathology | Eye Diseases, Hereditary - physiopathology | Retina - physiopathology | Gene Expression Regulation | Retinal Cone Photoreceptor Cells - physiology | Proteoglycans - metabolism | Myopia - pathology | Presynaptic Terminals - physiology | Genetic Diseases, X-Linked - metabolism | Eye Diseases, Hereditary - genetics | Myopia - genetics | Animals | Calcium Channels, L-Type - genetics | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Dogs | Genetic Diseases, X-Linked - pathology | Presynaptic Terminals - metabolism | Calcium Channels, L-Type - metabolism | Retinal Cone Photoreceptor Cells - metabolism | Eye Diseases, Hereditary - metabolism | Proteoglycans - genetics | Immunohistochemistry | Veterinary colleges | Protein kinase C | Disease | Genes | Antibodies | Retina | Labelling | Rods | Nyctalopia | Veterinary medicine | Homozygosity | Modulators | Defects | Gene sequencing | Proteins | Signal transduction | Rodents | Bipolar cells | Synaptic ribbons | Dendrites | Terminals | University graduates | Night vision | Phenotypes | Congenital diseases | Immunomodulation | Gene expression | Electron microscopy | Spherules | Cones | Vision | Blindness | Photoreceptors | Mutation | Gene mapping | Stationary night blindness | Cellular structure | Pharmaceuticals | Index Medicus
Journal Article