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Experimental Eye Research, ISSN 0014-4835, 2014, Volume 121, p. 41
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 331 - 339
Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive... 
COMPLETE FORM | LIGHT RESPONSE | CHANNEL | MGLUR6 | SYNAPTIC-TRANSMISSION | MOUSE MODEL | GENETICS & HEREDITY | NYCTALOPIN | RICH REPEAT PROTEIN | MUTATIONS | CONE ELECTRORETINOGRAM | Proteins | Genetic disorders | Rodents | Blindness | Mutation | Gene expression | Cells | Animal models | Antibodies | Insertion | stationary night blindness | Retina | Guanine nucleotide-binding protein | Electroretinograms | Depolarization | Signal transduction | Vision | Bipolar cells | Gene mapping | DNA sequencing | Electroretinography - methods | Night Blindness - metabolism | Humans | Dark Adaptation - genetics | Retinal Rod Photoreceptor Cells - metabolism | Gene Knockdown Techniques - methods | Myopia - metabolism | Receptors, Metabotropic Glutamate - genetics | Retinal Bipolar Cells - physiology | Chromosome Mapping - methods | Genetic Diseases, X-Linked | Night Blindness - genetics | Retinal Bipolar Cells - metabolism | Eye Diseases, Hereditary | Signal Transduction | Mice, Inbred C57BL | Zebrafish | Mice, Inbred C3H | Myopia - genetics | Animals | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Retinal Rod Photoreceptor Cells - physiology | Heterozygote | Mice | Receptors, G-Protein-Coupled - genetics | Chromosome mapping | Usage | Gene mutations | Retinal bipolar cells | Causes of | Physiological aspects | Night blindness | Genetic aspects | Research | Analysis | Index Medicus
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2013, Volume 110, Issue 50, pp. 20206 - 20211
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease characterized by progressive ectopic mineralization of the skin, eyes, and arteries, for which... 
Metabolomics | HEK293 cells | Liver | Cell lines | Nucleosides | Vascular calcification | Nucleotides | Diphosphates | Genetic mutation | Blood plasma | ENPP1 | ATP secretion | Ectopic calcification | MRP6 | MULTIDISCIPLINARY SCIENCES | VASCULAR CALCIFICATION | CONNECTIVE TISSUES | MULTIDRUG-RESISTANCE PROTEIN-6 | TRANSPORT | ectopic calcification | INORGANIC PYROPHOSPHATE | MOUSE MODEL | VITAMIN-K | GENERALIZED ARTERIAL CALCIFICATION | MUTATIONS | MATRIX-GLA-PROTEIN | ABC transporters | Genetic disorders | Mutation | Gene expression | Medical treatment | Metabolic disorders | pyrophosphates | nucleoside triphosphates | Mineralization | metabolomics | Data processing | Ectonucleotidase | Arteries | Pseudoxanthoma Elasticum - metabolism | Metabolic Diseases - pathology | Mutagenesis, Site-Directed | Humans | DNA, Complementary - genetics | Rats | DNA Primers - genetics | Pseudoxanthoma Elasticum - pathology | Dinucleoside Phosphates - metabolism | Mutation - genetics | Mice, Knockout | Animals | Metabolic Diseases - metabolism | HEK293 Cells | Pseudoxanthoma Elasticum - genetics | Metabolic Diseases - genetics | Multidrug Resistance-Associated Proteins - genetics | Mice | Multidrug Resistance-Associated Proteins - metabolism | Diphosphates - blood | Physiological aspects | Calcification | Pseudoxanthoma elasticum | Research | Health aspects | Adenosine triphosphate | Index Medicus
Journal Article
by Verhoeven, Virginie J. M and Hysi, Pirro G and Wojciechowski, Robert and Fan, Qiao and Guggenheim, Jeremy A and Höhn, René and Macgregor, Stuart and Hewitt, Alex W and Nag, Abhishek and Cheng, Ching-Yu and Yonova-Doing, Ekaterina and Zhou, Xin and Ikram, M. Kamran and Buitendijk, Gabriëlle H. S and McMahon, George and Kemp, John P and Pourcain, Beate St and Simpson, Claire L and Mäkelä, Kari-Matti and Lehtimäki, Terho and Kähönen, Mika and Paterson, Anew D and Hosseini, S. Mohsen and Wong, Hoi Suen and Xu, Liang and Jonas, Jost B and Pärssinen, Olavi and Wedenoja, Juho and Yip, Shea Ping and Ho, Daniel W. H and Pang, Chi Pui and Chen, Li Jia and Burdon, Kathryn P and Craig, Jamie E and Klein, Barbara E. K and Klein, Ronald and Haller, Toomas and Metspalu, Anes and Khor, Chiea-Chuen and Tai, E.-Shyong and Aung, Tin and Vithana, Eranga and Tay, Wan-Ting and Barathi, Veluchamy A and Chen, Peng and Li, Ruoying and Liao, Jiemin and Zheng, Yingfeng and Ong, Rick T and Döring, Angela and Evans, David M and Timpson, Nicholas J and Verkerk, Annemieke J. M. H and Meitinger, Thomas and Raitakari, Olli and Hawthorne, Felicia and Spector, Tim D and Karssen, Lennart C and Pirastu, Mario and Murgia, Federico and Ang, Wei and Mishra, Aniket and Montgomery, Grant W and Pennell, Craig E and Cumberland, Phillippa M and Cotlarciuc, Ioana and Mitchell, Paul and Wang, Jie Jin and Schache, Maria and Janmahasathian, Sarayut and Igo, Robert P and Lass, Jonathan H and Chew, Emily and Iyengar, Sudha K and Gorgels, Theo G. M. F and Rudan, Igor and Hayward, Caroline and Wright, Alan F and Polasek, Ozren and Vatavuk, Zoran and Wilson, James F and Fleck, Brian and Zeller, Tanja and Mirshahi, Alireza and Müller, Christian and Uitterlinden, Ané G and Rivadeneira, Fernando and Vingerling, Johannes R and Hofman, Albert and Oostra, Ben A and Amin, Najaf and Bergen, Arthur A. B and teo, Yik-Ying and Rahi, Jugnoo S and Vitart, Veronique and Williams, Cathy and Baird, Paul N and Wong, Tien-Yin and Oexle, Konrad and Pfeiffer, Norbert and ... and Fuchs' Genetics Multi-Ctr Study Gr and Diabet Control Complications Trial and WTCCC2 and CREAM and Consortium for Refractive Error and Myopia (CREAM) and Fuchs' Genetics Multi-Center Study Group and Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group and Wellcome Trust Case Control Consortium 2 (WTCCC2) and The Fuchs' Genetics Multi-Center Study Group and The Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 3, pp. 314 - 318
Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80%... 
ACID | ADAPTED MOUSE RETINA | VARIANTS | GENE | GENETICS & HEREDITY | EYE GROWTH | SERINE-PROTEASE | ASSOCIATION | EXPRESSION | RETINAL-PIGMENT EPITHELIUM | POTASSIUM CHANNEL | Refractive Errors | Humans | Myopia | Retina | Genomes | KCNQ Potassium Channels | Confidence intervals | Laminin | glutamate receptor ionotropic, AMPA 4 | Serine Proteases | Genetics | Population | Receptors, AMPA | Alcohol Oxidoreductases | Genetic Predisposition to Disease | Genome-Wide Association Study | SIX6 protein, human | Genealogy | Bone Morphogenetic Protein 2 | Risk Factors | Trans-Activators | laminin alpha 2 | BMP2 protein, human | European Continental Ancestry Group | PRSS56 protein, human | Meta-analysis | Asian Continental Ancestry Group | Homeodomain Proteins | retinol dehydrogenase 5 | Gene loci | KCNQ5 protein, human | Genetic load | Bone morphogenetic protein 2 | Cream | Single-nucleotide polymorphism | KCNQ5 protein | Metabolism | Eye | Reviews | Blindness | Eye disorders | Development | Extracellular matrix | Potassium channels (voltage-gated) | Retinoic acid | Neurotransmission | Serine Proteases - genetics | Bone Morphogenetic Protein 2 - genetics | European Continental Ancestry Group - genetics | Asian Continental Ancestry Group - genetics | Refractive Errors - genetics | Homeodomain Proteins - genetics | Alcohol Oxidoreductases - genetics | Laminin - genetics | Myopia - genetics | Trans-Activators - genetics | Receptors, AMPA - genetics | KCNQ Potassium Channels - genetics | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 730 - 736
Journal Article
Journal Article
Journal Article
JAMA, ISSN 0098-7484, 07/2006, Volume 296, Issue 3, pp. 301 - 309
Journal Article
Human molecular genetics, ISSN 0964-6906, 2011, Volume 20, Issue 12, pp. 2464 - 2471
Journal Article
Journal Article