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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
Cellular and Molecular Life Sciences, ISSN 1420-682X, 11/2018, Volume 75, Issue 21, pp. 4021 - 4040
Mitochondrial intracrines are extracellular signaling proteins, targeted to the mitochondria. The pathway for mitochondrial targeting of mitochondrial... 
Life Sciences | Biomedicine, general | Biochemistry, general | PIKfyve | Sonic hedgehog | Life Sciences, general | Vitamin D | ApoE | OCRL1 | Cell Biology | Proteinuria | ANGIOTENSIN SYSTEM | BIOCHEMISTRY & MOLECULAR BIOLOGY | RENAL ISCHEMIA/REPERFUSION INJURY | MAMMALIAN-CELLS | SIRT3 | CELL BIOLOGY | RECEPTOR MEGALIN | DONNAI-BARROW | PROTEIN TRAFFICKING | STANNIOCALCIN-1 | TRANS-GOLGI NETWORK | MICE | Oculocerebrorenal Syndrome - genetics | Oculocerebrorenal Syndrome - pathology | Hernias, Diaphragmatic, Congenital - pathology | Humans | rab GTP-Binding Proteins - genetics | Cell Membrane - genetics | Renal Tubular Transport, Inborn Errors - genetics | Proteinuria - pathology | Myopia - metabolism | Brain - metabolism | Renal Tubular Transport, Inborn Errors - metabolism | Mitochondria - genetics | Amyloid beta-Peptides - genetics | Hernias, Diaphragmatic, Congenital - metabolism | Agenesis of Corpus Callosum - genetics | Amyloid beta-Peptides - metabolism | HEK293 Cells | Low Density Lipoprotein Receptor-Related Protein-2 - genetics | Glycoproteins - genetics | rab GTP-Binding Proteins - metabolism | Agenesis of Corpus Callosum - metabolism | Sirtuin 3 - genetics | Hearing Loss, Sensorineural - metabolism | Signal Transduction | Renal Tubular Transport, Inborn Errors - pathology | Hearing Loss, Sensorineural - pathology | Proteinuria - metabolism | Low Density Lipoprotein Receptor-Related Protein-2 - metabolism | Myopia - pathology | Hearing Loss, Sensorineural - genetics | Mitochondria - metabolism | Proteinuria - genetics | Agenesis of Corpus Callosum - pathology | Myopia - genetics | Hernias, Diaphragmatic, Congenital - genetics | Animals | Transforming Growth Factor beta - genetics | Brain - pathology | Oculocerebrorenal Syndrome - metabolism | RAW 264.7 Cells | Mice | Medical colleges | Angiotensin | Physiological aspects | Calcifediol | Bone morphogenetic proteins | Alfacalcidol | Kidney diseases | Apolipoproteins | Transforming growth factors | Stanniocalcin | Brain | LRP2 protein | Pathogenesis | Crosstalk | Metabolism | Vitamins | Defects | Golgi apparatus | Proteins | Signal transduction | Signaling | Mitochondria | Glycolysis | Amyloid | Mutation | Angiotensin II | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2014, Volume 23, Issue 9, pp. 2391 - 2399
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2015, Volume 56, Issue 1, pp. 339 - 345
Journal Article
Journal Article
Cellular Signalling, ISSN 0898-6568, 09/2017, Volume 37, pp. 74 - 80
Mutations in genes encoding the effector enzymes in rods and cones underlie severe retinal diseases including retinitis pigmentosa (RP), autosomal dominant... 
Retina | AIPL1 | Phosphodiesterases | Achromatopsia | Chaperone | Photoreceptor | PHOTORECEPTOR PHOSPHODIESTERASE | DOMAIN | RECESSIVE RETINITIS-PIGMENTOSA | ROD CGMP-PHOSPHODIESTERASE | CATALYTIC SUBUNITS | CELL BIOLOGY | GENE | GAMMA-SUBUNIT | BETA-SUBUNIT | CONGENITAL AMAUROSIS | STATIONARY NIGHT BLINDNESS | Retinal Diseases - genetics | Night Blindness - metabolism | Humans | Retinal Diseases - metabolism | Cyclic Nucleotide Phosphodiesterases, Type 6 - genetics | Mutation, Missense | Protein Prenylation | Color Vision Defects - genetics | Myopia - metabolism | HEK293 Cells | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Night Blindness - genetics | Color Vision Defects - metabolism | Cyclic Nucleotide Phosphodiesterases, Type 6 - analysis | Cyclic Nucleotide Phosphodiesterases, Type 6 - metabolism | Gene Expression | Models, Molecular | Genetic Diseases, X-Linked - metabolism | Eye Proteins - analysis | Protein Folding | Eye Diseases, Hereditary - genetics | Myopia - genetics | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Eye Proteins - metabolism | Adaptor Proteins, Signal Transducing - genetics | Mice | Adaptor Proteins, Signal Transducing - metabolism | Eye Diseases, Hereditary - metabolism | Physiological aspects | Enzymes | Retinal diseases | Analysis | Index Medicus | phosphodiesterases | chaperone | achromatopsia | retina | photoreceptor
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2015, Volume 10, Issue 6, pp. e0130705 - e0130705
Purpose To investigate the activation of three unfolded protein response (UPR) pathways in the lenses of age-related, high myopia-related and congenital... 
OXIDATIVE STRESS | MESSENGER-RNA | ER STRESS | MULTIDISCIPLINARY SCIENCES | IRE1 | DISEASE | ENDOPLASMIC-RETICULUM STRESS | CHAPERONE | TRANSCRIPTION FACTOR | ATF6 | EXPRESSION | Up-Regulation | Humans | Cataract - pathology | RNA, Messenger - metabolism | Activating Transcription Factor 6 - genetics | X-Box Binding Protein 1 | DNA-Binding Proteins - metabolism | Heat-Shock Proteins - genetics | RNA Splicing | Eukaryotic Initiation Factor-2 - metabolism | Real-Time Polymerase Chain Reaction | Protein-Serine-Threonine Kinases - metabolism | Endoribonucleases - metabolism | Heat-Shock Proteins - metabolism | RNA, Messenger - genetics | Activating Transcription Factor 4 - genetics | Lens, Crystalline - metabolism | Transcription Factors - genetics | Cataract - metabolism | DNA-Binding Proteins - genetics | Regulatory Factor X Transcription Factors | Transcription Factors - metabolism | Activating Transcription Factor 6 - metabolism | Activating Transcription Factor 4 - metabolism | Unfolded Protein Response - physiology | Eye | Cataract | Genetic disorders | Ophthalmology | Gene expression | Surgery | Cataracts | Membranes | Transcription factors | Laboratories | Myopia | Activation | Kinases | Patients | Western blotting | Proteins | Pathways | Protein folding | Regulation | Stress response | Endoplasmic reticulum | Age | Lenses | Eye lens | Index Medicus
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2006, Volume 141, Issue 3, pp. 456 - 462
Journal Article
PLoS ONE, ISSN 1932-6203, 06/2015, Volume 10, Issue 6, pp. e0129518 - e0129518
Myopia is a common ocular disorder generally due to increased axial length of the eye-globe. Its extreme form high myopia (HM) is a multifactorial disease... 
MACULOPATHY | MANAGEMENT | DONNAI-BARROW | MULTIDISCIPLINARY SCIENCES | TELENCEPHALON | ANIMAL-MODELS | RECEPTOR | MEGALIN | MICE | MUTATIONS | EYE DEVELOPMENT | Retinal Pigment Epithelium - metabolism | Retina - metabolism | Cell Proliferation | Retina - embryology | Myopia, Degenerative - genetics | Retinal Ganglion Cells - metabolism | Ciliary Body - metabolism | Forkhead Transcription Factors - metabolism | Sclera - pathology | Low Density Lipoprotein Receptor-Related Protein-2 - genetics | Prosencephalon - metabolism | Disease Models, Animal | Microscopy, Electron, Transmission | Intraocular Pressure | Axons - metabolism | Genotype | Low Density Lipoprotein Receptor-Related Protein-2 - metabolism | Forkhead Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Mice, Knockout | Nerve Tissue Proteins - metabolism | Magnetic Resonance Imaging | Phenotype | Animals | Retinal Pigment Epithelium - embryology | Mice | Mutation | Optic Nerve - metabolism | Health aspects | Genetic disorders | Myopia | Animal models | LRP2 protein | Retinopathy | Forebrain | Retina | Inactivation | Eye | Atrophy | Foxg1 protein | Rodents | Eye (anatomy) | Elongation | Visually handicapped people | Image resolution | Deactivation | Optic nerve | Zebrafish | Mammals | Retinal ganglion cells | Axons | Magnetic resonance imaging | Collagen | Proteomics | Genetic engineering | Intraocular pressure | Index Medicus | Life Sciences | Human health and pathology
Journal Article