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المؤلفون: John H. Fingert, Edwin M. Stone, Michael G. Anderson, Robert F. Mullins, Keith D. Carter, Markus H. Kuehn, Wallace L.M. Alward, Miles J. Flamme-Wiese, Megan J Riker, Nasreen A. Syed, Carly J. van der Heide
المصدر: Ophthalmology Glaucoma. 1:132-138
مصطلحات موضوعية: Male, 0301 basic medicine, Intraocular pressure, medicine.medical_specialty, genetic structures, Glaucoma, medicine.disease_cause, Article, Aqueous Humor, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Trabecular Meshwork, Ophthalmology, medicine, Humans, Eye Proteins, Endoplasmic Reticulum Chaperone BiP, Intraocular Pressure, Myocilin, Glycoproteins, Retrospective Studies, Mutation, business.industry, DNA, General Medicine, Middle Aged, medicine.disease, Immunohistochemistry, Tissue Donors, eye diseases, Pathophysiology, Cytoskeletal Proteins, 030104 developmental biology, medicine.anatomical_structure, 030221 ophthalmology & optometry, Female, sense organs, Trabecular meshwork, business, Glaucoma, Open-Angle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c9fadf8a5e502bcbb7a71ff786988edTest
https://doi.org/10.1016/j.ogla.2018.08.004Test -
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المؤلفون: Elliott H. Sohn, Mark A. Greiner, Andrew E. Pouw, Chunhua Jiao, Robert F. Mullins, John H. Fingert, Ian C. Han, Jessica M. Skeie, Razek Georges Coussa
المصدر: Cells
Cells, Vol 10, Iss 687, p 687 (2021)مصطلحات موضوعية: 0301 basic medicine, collagen, descemet membrane, genetic structures, Angiogenesis, Retinal Pigment Epithelium, Review, Interphotoreceptor matrix, AMD, Bruch's membrane, Retina, metalloproteinases, interphotoreceptor matrix, Extracellular matrix, Cornea, TIMP-3, 03 medical and health sciences, Macular Degeneration, 0302 clinical medicine, medicine, Humans, TGF-beta, lcsh:QH301-705.5, Retinal pigment epithelium, Neovascularization, Pathologic, Chemistry, Choroid, bruch’s membrane, General Medicine, VEGF, eye diseases, Cell biology, Extracellular Matrix, 030104 developmental biology, medicine.anatomical_structure, lcsh:Biology (General), 030221 ophthalmology & optometry, MMP-14, Trabecular meshwork, sense organs, Bruch Membrane, MMP-9, Vitreous base
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf31962c4e2725216bdcad1a300141c0Test
https://pubmed.ncbi.nlm.nih.gov/33804633Test -
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المؤلفون: Kathryn P. Burdon, Marianne O. Price, Natalie A. Afshari, Simon G. Gregory, Jiagang Zhao, S. Amer Riazuddin, Sanjay V. Patel, Elmer Balajonda, Sudha K. Iyengar, Christopher R. Croasdale, Jamie E Craig, Venkateswara Mootha, Gordon K. Klintworth, Barbara Truitt, John F. Stamler, George O D Rosenwasser, Shiwani Sharma, Abraham Kuot, Jonathan H. Lass, Mollie A. Minear, Richard A. Mills, Steven P. Dunn, Sonja Klebe, Keith H. Baratz, John H. Fingert, Anthony J. Aldave, Xuejun Qin, Dwight Stambolian, V. Lakshmi Pulagam, John D. Gottsch, Joan E. Bailey-Wilson, Francis W. Price, Nathan Morris, Yi-Ju Li, Robert P. Igo, J. B. Rimmler
المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)
Nature Communicationsمصطلحات موضوعية: 0301 basic medicine, Science, General Physics and Astronomy, Locus (genetics), Genome-wide association study, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Cornea, medicine, Humans, Genetics, Multidisciplinary, Fuchs' Endothelial Dystrophy, Reproducibility of Results, General Chemistry, TCF4, eye diseases, 3. Good health, Transplantation, Corneal Disorder, 030104 developmental biology, medicine.anatomical_structure, ROC Curve, Genetic Loci, 030221 ophthalmology & optometry, Etiology, sense organs, Fuchs Endothelial Corneal Dystrophy, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78aba81960472d88ac8bad9b04f110f5Test
https://doaj.org/article/d1c65f3362014583bd22c5188abefc76Test -
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المؤلفون: Mathew A. Miller, Nathan C. Sears, John H. Fingert, Erin A. Boese
المصدر: Exp Eye Res
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Intraocular pressure, genetic structures, Open angle glaucoma, Glaucoma, Cell Cycle Proteins, Protein Serine-Threonine Kinases, medicine.disease_cause, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Ophthalmology, Normal tension glaucoma, Humans, Medicine, Eye Proteins, Myocilin, Glycoproteins, Optineurin, Mutation, business.industry, Membrane Transport Proteins, Mendelian Randomization Analysis, medicine.disease, eye diseases, Sensory Systems, Cytoskeletal Proteins, 030104 developmental biology, medicine.anatomical_structure, 030221 ophthalmology & optometry, sense organs, Trabecular meshwork, business, Glaucoma, Open-Angle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4b7f27b677fec6ea323eb5cd673f99dTest
https://doi.org/10.1016/j.exer.2019.107702Test -
5
المؤلفون: Nicholas G. Martin, René Höhn, Paul Mitchell, Gavin Band, Pamela Whittaker, Michelle Ricketts, Pirro G. Hysi, Jenefer M. Blackwell, Grant W. Montgomery, Elena Rochtchina, Manfred E. Beutel, Richard A. Mills, Anna Rautanen, Alagurevathi Jayakumar, Colin Freeman, Stephen Sawcer, Stuart MacGregor, Irene Schmidtmann, Cornelia M. van Duijn, Nicholas W. Wood, Sayoko E. Moroi, Jonathan L. Haines, Aniket Mishra, Ananth C. Viswanathan, Jie Jin Wang, Donald L. Budenz, Seyhan Yazar, Janey L. Wiggs, Garrett Hellenthal, Kathryn P. Burdon, Jerome I. Rotter, Jamie E Craig, Puya Gharahkhani, Juan P. Casas, R. Rand Allingham, Jost B. Jonas, Ozren Polasek, Julia E. Richards, Sarah Edkins, Rodney J. Scott, Abhishek Nag, Tanja Zeller, Rhian Gwilliam, Chris C. A. Spencer, David S. Friedman, Adriana I Iglesias, Radhi Ravindrarajah, Kent D. Taylor, Caroline Hayward, Eleni Giannoulatou, David A. Mackey, Michael A. Hauser, Paul J. Foster, Emma Gray, Audrey Duncanson, Yih Chung Tham, Murray H. Brilliant, Ching-Yu Cheng, William K. Scott, Robert N. Weinreb, Hugh S. Markus, Xueling Sim, David S. Siscovick, Matti Pirinen, John H. Fingert, Yelena Bykhovskaya, Louis R. Pasquale, Peter Donnelly, Donald J. Zack, Kuldev Singh, Cordelia Langford, Zhan Su, Céline Bellenguez, Joel S. Schuman, Peter Kraft, Christopher G. Mathew, Hannah Blackburn, Sara Widaa, Yuan Shi, Gabriel Cuellar-Partida, André G. Uitterlinden, Naomi Hammond, Panos Deloukas, Richard K. Lee, Robert Plomin, Jessica N. Cooke Bailey, Jae H. Kang, John Attia, Yutao Liu, Simon C. Potter, Jennifer Liddle, Matthew Gillman, Alex W. Hewitt, Margaret A. Pericak-Vance, James F. Wilson, Tien Yin Wong, Elvira Bramon, Janusz Jankowski, Henriët Springelkamp, Sarah E. Hunt, Anthony P Khawaja, Veronique Vitart, Xiaohui Li, Pieter W.M. Bonnemaijer, Damjan Vukcevic, Paul R. Lichter, Aiden Corvin, Sionne E. M. Lucas, Matthew Waller, Caroline C W Klaver, Douglas E. Gaasterland, Terry Gaasterland, Norbert Pfeiffer, Douglas Vollrath, Anthony Realini, Eranga N. Vithana, Gadi Wollstein, Thibaud Boutin, Owen T. McCann, Paul A. Weston, Lisa S. Kearns, Inês Barroso, Richard G. Pearson, Christopher J Hammond, Colin N. A. Palmer, Michael Inouye, Chiea Chuen Khor, Stephanie Loomis, Sandra E Staffieri, Yaron S. Rabinowitz, Richard C. Trembath, Tin Aung, William G. Christen, Paul N. Baird, Jing Xie, Elisabeth M. van Leeuwen, Serge Dronov, Arthur J. Sit, Colin E. Willoughby, Kang Zhang, Matthew A. Brown, Suzannah Bumpstead, Amy Strange, Elizabeth G. Holliday
المساهمون: Clinical Genetics, Epidemiology, Ophthalmology, Internal Medicine, Experimental Immunology, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Iglesias, Adriana I [0000-0001-5532-764X], Gharahkhani, Puya [0000-0002-4203-5952], Bailey, Jessica N Cooke [0000-0002-4001-8702], Li, Xiaohui [0000-0002-5037-3572], Khawaja, Anthony P [0000-0001-6802-8585], Haines, Jonathan L [0000-0002-4351-4728], Hayward, Caroline [0000-0002-9405-9550], Bonnemaijer, Pieter [0000-0001-5154-6765], Staffieri, Sandra E [0000-0003-3131-9359], Jonas, Jost B [0000-0003-2972-5227], Kang, Jae H [0000-0003-4812-0557], Wilson, James F [0000-0001-5751-9178], Foster, Paul J [0000-0002-4755-177X], Hysi, Pirro G [0000-0001-5752-2510], Hewitt, Alex W [0000-0002-5123-5999], Khor, Chiea Chuen [0000-0002-1128-4729], Pasquale, Louis R [0000-0002-5835-3496], Montgomery, Grant W [0000-0002-4140-8139], Klaver, Caroline CW [0000-0002-2355-5258], Hammond, Christopher J [0000-0002-3227-2620], Wiggs, Janey L [0000-0003-1890-3278], Burdon, Kathryn P [0000-0001-8217-1249], MacGregor, Stuart [0000-0001-6731-8142], Apollo - University of Cambridge Repository
المصدر: Nature Communications, 9,
Nature Communications, 9:1864. Nature Publishing Group
Nature communications, 9(1):1864. Nature Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.1864. ⟨10.1038/s41467-018-03646-6⟩
Iglesias, Adriana I; Mishra, Aniket; Vitart, Veronique; Bykhovskaya, Yelena; Höhn, René Gerhard Joachim; Springelkamp, Henriët; Cuellar-Partida, Gabriel; Gharahkhani, Puya; Bailey, Jessica N Cooke; Willoughby, Colin E; Li, Xiaohui; Yazar, Seyhan; Nag, Abhishek; Khawaja, Anthony P; Polašek, Ozren; Siscovick, David; Mitchell, Paul; Tham, Yih Chung; Haines, Jonathan L; Kearns, Lisa S; ... (2018). Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nature communications, 9(1), p. 1864. Nature Publishing Group 10.1038/s41467-018-03646-6 <http://dx.doi.org/10.1038/s41467-018-03646-6Test>
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Nature Communications, 9, pp.
Iglesias, A I, Vitart, V, Li, X, Yazar, S, Nag, A, Khawaja, A P, Polašek, O, Siscovick, D, Mitchell, P, Chung Tham, Y, Haines, J L, Kearns, L S, Hayward, C, Shi, Y, van Leeuwen, E M, Taylor, K D, Bonnemaijer, P, Rotter, J I, Martin, N G, Zeller, T, Mills, R A, Souzeau, E, Staffieri, S E, Jonas, J B, Schmidtmann, I, Boutin, T, Kang, J H, Lucas, S E M, Wong, T Y, Beutel, M E, Uitterlinden, A G, Vithana, E N, Foster, P J, Hysi, P G, Hewitt, A W, Khor, C C, Pasquale, L R, Montgomery, G W, Klaver, C C W, Aung, T, Pfeiffer, N, Mackey, D A, Hammond, C J, Cheng, C-Y, Craig, J E, Rabinowitz, Y S & Wiggs, J L & Burdon, K P & van Duijn, C M & MacGregor, S 2018, ' Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases ', Nature Communications, vol. 9, 1864 . https://doi.org/10.1038/s41467-018-03646-6Testمصطلحات موضوعية: 0301 basic medicine, Lumican, Candidate gene, genetic structures, Fibrillin-1, Gene Expression, General Physics and Astronomy, Glaucoma, Genome-wide association study, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Corneal Diseases, Marfan Syndrome, Cornea, ADAMTS Proteins, 0302 clinical medicine, Myopia, lcsh:Science, Corneal Dystrophies, Hereditary, Genetics, Multidisciplinary, Eye Diseases, Hereditary, Mendelian Randomization Analysis, 3. Good health, medicine.anatomical_structure, Proteoglycans, Decorin, Glaucoma, Open-Angle, Keratoconus, Science, Quantitative Trait Loci, 610 Medicine & health, Biology, Quantitative trait locus, Polymorphism, Single Nucleotide, White People, General Biochemistry, Genetics and Molecular Biology, Transforming Growth Factor beta2, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Quantitative Trait, Heritable, Asian People, medicine, Humans, CHROMATIN STATES, GENE-EXPRESSION, RISK-FACTOR, MUTATIONS, LUMICAN, MOUSE, KERATOCONUS, DECORIN, POLYMORPHISMS, HERITABILITY, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, Loeys-Dietz Syndrome, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Genome, Human, General Chemistry, medicine.disease, eye diseases, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 030221 ophthalmology & optometry, lcsh:Q, Ehlers-Danlos Syndrome, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, sense organs, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e97e1815813f732504c32b827988a988Test
http://hdl.handle.net/2066/191586Test -
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المؤلفون: Kevin Bugge, Gulab Zode, Ankur Jain, Feng Zhang, Abbot F. Clark, Winston X. Yan, Ramesh B. Kasetti, John H. Fingert, Charles Searby, Fei A. Ran, Tasneem Putliwala Sharma, Val C. Sheffield
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 114(42)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, genetic structures, Glaucoma, Biology, In Vitro Techniques, Cell Line, 03 medical and health sciences, Mice, Genome editing, Ophthalmology, medicine, CRISPR, Animals, Humans, Eye Proteins, Myocilin, Glycoproteins, Gene Editing, Multidisciplinary, Endoplasmic reticulum, Genetic Therapy, Biological Sciences, medicine.disease, eye diseases, Cytoskeletal Proteins, 030104 developmental biology, medicine.anatomical_structure, Cancer research, Unfolded protein response, Trabecular meshwork, sense organs, CRISPR-Cas Systems, Ex vivo, Glaucoma, Open-Angle
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7dc093c4862b3d65519a96e401b52ecTest
https://pubmed.ncbi.nlm.nih.gov/28973933Test -
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المؤلفون: Robert F. Mullins, Carly J. Lewis, Todd E. Scheetz, Kathleen R. Chirco, Budd A. Tucker, Edwin M. Stone, Rebecca M. Johnston, John H. Fingert
المصدر: Ophthalmic genetics. 39(1)
مصطلحات موضوعية: 0301 basic medicine, Male, genetic structures, Genotyping Techniques, Blotting, Western, Single-nucleotide polymorphism, Enzyme-Linked Immunosorbent Assay, Retinal Pigment Epithelium, Biology, Real-Time Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Retina, Article, Andrology, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), medicine, SNP, Humans, Genetics (clinical), Aged, Aged, 80 and over, Retinal pigment epithelium, Vascular Endothelial Growth Factor Receptor-1, Choroid, Anatomy, Macular degeneration, Middle Aged, medicine.disease, eye diseases, Tissue Donors, Blot, Ophthalmology, 030104 developmental biology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Wet Macular Degeneration, Female, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::979c1bf546d87f41567150cdf98c4627Test
https://pubmed.ncbi.nlm.nih.gov/28949775Test -
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المؤلفون: Young H. Kwon, Daniel I. Bettis, John H. Fingert, Ben J. Janson, Lorraine M. Provencher, Kenneth M. Goins, Wallace L.M. Alward, Mark A. Greiner, Michael D. Wagoner
المصدر: Survey of ophthalmology. 63(4)
مصطلحات موضوعية: 0301 basic medicine, Corneal endothelium, Intraocular pressure, medicine.medical_specialty, Visual acuity, genetic structures, Endothelium, medicine.medical_treatment, Glaucoma, Aqueous Humor, 03 medical and health sciences, 0302 clinical medicine, Cornea, Ophthalmology, medicine, Glaucoma surgery, Humans, Antihypertensive Agents, Intraocular Pressure, business.industry, Corneal Transplant, Corneal Endothelial Cell Loss, medicine.disease, eye diseases, 030104 developmental biology, medicine.anatomical_structure, Filtering Surgery, 030221 ophthalmology & optometry, sense organs, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29375146e6ada0d3dab25e7a2ad58df6Test
https://pubmed.ncbi.nlm.nih.gov/29146208Test -
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المؤلفون: Michael G. Anderson, Adam Hedberg-Buenz, Robert F. Mullins, Kathy Miller, Ben R. Roos, John H. Fingert, Carly J. Lewis
المصدر: Human molecular genetics. 26(1)
مصطلحات موضوعية: 0301 basic medicine, Genetically modified mouse, Male, Retinal Ganglion Cells, genetic structures, Transgene, Glaucoma, Mice, Transgenic, Biology, Protein Serine-Threonine Kinases, Retinal ganglion, 03 medical and health sciences, Mice, 0302 clinical medicine, Normal tension glaucoma, Gene duplication, Genetics, medicine, Animals, Humans, Molecular Biology, Ganglion cell layer, Genetics (clinical), Intraocular Pressure, General Medicine, Articles, medicine.disease, Molecular biology, eye diseases, Low Tension Glaucoma, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Phenotype, 030221 ophthalmology & optometry, Female, sense organs
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35b458292669cc4f05f00849ac09de8eTest
https://pubmed.ncbi.nlm.nih.gov/28025332Test -
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المؤلفون: Jessica N. Cooke Bailey, Michelle Drewry, Inas Helwa, John H. Fingert, John Kuchtey, Janey L. Wiggs, W. Daniel Stamer, Kang Zhang, Margaret A. Pericak-Vance, Douglas E. Gaasterland, Michael A. Hauser, William K. Scott, William G. Christen, Louis R. Pasquale, Murray H. Brilliant, Paul R. Lichter, Donald J. Zack, Jae H. Kang, Michael A. Kass, Peter Kraft, Jingwen Cai, Sayoko E. Moroi, Arthur J. Sit, Donald L. Budenz, Pedro Gonzalez, Anthony Realini, Felipe A. Medeiros, Gadi Wollstein, Robert N. Weinreb, Yeunjoo E. Song, Robert P. Igo, W. Michael Dismuke, Mae O. Gordon, Robert Ritch, Jonathan L. Haines, Kuldev Singh, Joel S. Schuman, Rachel W. Kuchtey, Yutao Liu, Terry Gaasterland, Douglas Vollrath, R. Rand Allingham, Julia E. Richards, Richard K. Lee, Daniel I. Chasman
المصدر: Investigative ophthalmology & visual science, vol 57, iss 10
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, genetic association, genetic structures, Glaucoma, Exosomes, Ophthalmology & Optometry, Polymerase Chain Reaction, Medical and Health Sciences, Gene Frequency, 80 and over, Body tissue, Aged, 80 and over, Middle Aged, Biological Sciences, animal models, NEIGHBORHOOD, medicine.anatomical_structure, Open-Angle, Female, Glaucoma, Open-Angle, medicine.medical_specialty, Open angle glaucoma, Genotype, Aqueous humor, and over, Biology, Aqueous Humor, 03 medical and health sciences, geographic atrophy, medicine, Humans, exosome, Genetic Predisposition to Disease, POAG, age-related macular degeneration, Intraocular Pressure, Alleles, Aged, Mirna sequencing, medicine.disease, Molecular biology, eye diseases, MicroRNAs, 030104 developmental biology, Multicenter study, Gene Expression Regulation, miR-182, Risk allele, RNA, Trabecular meshwork, sense organs
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1801dec8492d275e7ad71c8a380373abTest