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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
PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, pp. e0138701 - e0138701
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
Investigative ophthalmology & visual science, ISSN 0146-0404, 02/2019, Volume 60, Issue 2, pp. 488 - 499
Myopia is fast becoming a global public health burden with its increasing prevalence, particularly in developed countries. Globally, the prevalence of myopia... 
Prevention | Pathologic myopia | Myopia | ETHNIC-DIFFERENCES | REFRACTIVE ERROR | RISK-FACTORS | COLLAGEN CROSS-LINKING | VISUAL IMPAIRMENT | RANDOMIZED-TRIAL | SCHOOL-CHILDREN | FORM-DEPRIVATION MYOPIA | TIME SPENT OUTDOORS | pathologic myopia | myopia | OPHTHALMOLOGY | prevention | SOFT CONTACT-LENSES
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 10/2011, Volume 286, Issue 43, pp. 37665 - 37675
Journal Article
ACTA OPHTHALMOLOGICA, ISSN 1755-375X, 09/2014, Volume 92, Issue 6, pp. E470 - E474
Journal Article
Cell and Tissue Research, ISSN 0302-766X, 10/2014, Volume 358, Issue 1, pp. 99 - 107
In man, mutations of the megalin-encoding gene causes the rare Donnai-Barrow/Facio-Oculo-Acoustico-Renal Syndrome, which is partially characterized by... 
Human Genetics | Biomedicine | Non-pigmented ciliary body epithelium | Proteomics | Myopia | Macromelanosomes | Molecular Medicine | Megalin | Retinal pigment epithelium | PROTEIN | BLOOD-AQUEOUS BARRIER | MOUSE | RATS | CUBILIN | CELL BIOLOGY | RENAL PROXIMAL TUBULE | DONNAI-BARROW-SYNDROME | MORPHOGENESIS | EXPRESSION | ENDOCYTIC RECEPTORS | Retinal Pigment Epithelium - metabolism | Ciliary Body - pathology | Hernias, Diaphragmatic, Congenital - pathology | Humans | Male | Renal Tubular Transport, Inborn Errors - genetics | Proteinuria - pathology | Ciliary Body - metabolism | Myopia - metabolism | Retinal Pigment Epithelium - pathology | Renal Tubular Transport, Inborn Errors - metabolism | Hernias, Diaphragmatic, Congenital - metabolism | Mice, Mutant Strains | Agenesis of Corpus Callosum - genetics | Low Density Lipoprotein Receptor-Related Protein-2 - genetics | Melanosomes - pathology | Low Density Lipoprotein Receptor-Related Protein-2 - biosynthesis | Agenesis of Corpus Callosum - metabolism | Hearing Loss, Sensorineural - metabolism | Renal Tubular Transport, Inborn Errors - pathology | Gene Expression Regulation | Hearing Loss, Sensorineural - pathology | Proteinuria - metabolism | Myopia - pathology | Hearing Loss, Sensorineural - genetics | Proteinuria - genetics | Agenesis of Corpus Callosum - pathology | Myopia - genetics | Hernias, Diaphragmatic, Congenital - genetics | Animals | Melanosomes - genetics | Mice | Melanosomes - metabolism | Physiological aspects | Epithelium | Cytochemistry | Analysis | Pigments | Retina | Eye diseases | Genetics | Ligands | Rodents | Index Medicus | Regular
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