المؤلفون: Mohideen Abdul Kader, Alan L. Robin, Subbiah. R. Krishnadas, John H. Fingert, Ben R. Roos, Sundaresan Periasamy, Prasanthi Namburi, Sarika Ramugade, Rengappa Ramakrishnan

المصدر: Ophthalmic Genetics. 38:222-225

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, genetic structures, Open angle glaucoma, Gonioscopy, India, Age at diagnosis, Glaucoma, Cell Cycle Proteins, Protein Serine-Threonine Kinases, Article, Ophthalmoscopy, Young Adult, 03 medical and health sciences, Transcription Factor TFIIIA, Ophthalmology, medicine, Humans, Eye Proteins, Intraocular Pressure, Genetics (clinical), Myocilin, Aged, Glycoproteins, Optineurin, medicine.diagnostic_test, Family structure, business.industry, Membrane Transport Proteins, Middle Aged, medicine.disease, eye diseases, Pedigree, Cytoskeletal Proteins, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Visual Field Tests, Female, Ocular Hypertension, sense organs, Visual Fields, business, Glaucoma, Open-Angle

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc09002328c775003d099a8b3bcbcd86Test
https://doi.org/10.1080/13816810.2016.1193883Test

المؤلفون: R. Rand Allingham, Julia E. Richards, William K. Scott, Janey L. Wiggs, Jessica N. Cooke Bailey, Robert Ritch, Michael A. Hauser, Arthur J. Sit, Joel S. Schuman, Jonathan L. Haines, Donald L. Budenz, Jae H. Kang, Margaret A. Pericak-Vance, Douglas E. Gaasterland, William G. Christen, Yutao Liu, Kang Zhang, Robert N. Weinreb, Donald J. Zack, Kuldev Singh, Felipe A. Medeiros, Terry Gaasterland, Gadi Wollstein, Douglas Vollrath, Louis R. Pasquale, Tony Realini, Richard K. Lee, Anthony P Khawaja, Murray H. Brilliant, S.E. Moroi, Paul R. Lichter, John H. Fingert, Peter Kraft

المصدر: Investigative Ophthalmology & Visual Science
Khawaja, AP; Cooke Bailey, JN; Kang, JH; Rand Allingham, R; Hauser, MA; Brilliant, M; et al.(2016). Assessing the association of mitochondrial genetic variation with primary open-angle glaucoma using gene-set analyses. Investigative Ophthalmology and Visual Science, 57(11), 5046-5052. doi: 10.1167/iovs.16-20017. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/6tq4q4qpTest
Investigative ophthalmology & visual science, vol 57, iss 11

مصطلحات موضوعية: 0301 basic medicine, Genetics, genetic structures, Carbohydrate Metabolism Pathway, Lipid metabolism, Biological Sciences, Biology, Carbohydrate metabolism, Mitochondrion, Ophthalmology & Optometry, Medical and Health Sciences, eye diseases, mitochondria, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, glaucoma, Genetic variation, 030221 ophthalmology & optometry, Fatty acid elongation, genetics, sense organs, KEGG, Gene

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27ad174fa9e24c4b05e595ebdff19f71Test
http://europepmc.org/articles/PMC5040191Test

المؤلفون: Mark A. Greiner, John H. Fingert, Daniel C. Terveen, Jesse M. Vislisel, Ben R. Roos

المصدر: Eye. 31:1250-1252

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Triplet repeat, TCF4, Biology, eye diseases, 03 medical and health sciences, Ophthalmology, 030104 developmental biology, 0302 clinical medicine, Correspondence, Anticipation (genetics), 030221 ophthalmology & optometry, medicine, sense organs, Gene, Fuchs Endothelial Corneal Dystrophy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6320c4f80b24281d93ab902aa308ebfTest
https://doi.org/10.1038/eye.2017.60Test

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

المؤلفون: David C. Whiteman, Jessica N. Cooke Bailey, William K. Scott, Michael Coote, Ivan Goldberg, Mark J Walland, David J. Lynn, Paul R. Healey, Paul Mitchell, John Landers, Terry Gaasterland, Kathryn P. Burdon, Arthur J. Sit, Jonathan B Ruddle, Nicholas G. Martin, Douglas Vollrath, R. Rand Allingham, Richard K. Lee, Julia E. Richards, Yutao Liu, David A. Mackey, Kuldev Singh, Mitchell Lawlor, Doug Rhee, Stuart MacGregor, Jamie E Craig, Robert Ritch, Graham L. Radford-Smith, Donald L. Budenz, Murray H. Brilliant, Robert P. Igo, John R. Grigg, Robert J Casson, Janey L. Wiggs, Bronwyn Ridge, Stuart L. Graham, Stephen Best, Louis R. Pasquale, S.E. Moroi, Peter Kraft, Anthony Realini, Lisa A Hark, Mona S Awadalla, Gadi Wollstein, Jesse Gale, Donald J. Zack, Owen M. Siggs, Puya Gharahkhani, Andrea L Vincent, Tiger Zhou, Alex W. Hewitt, Emmanuelle Souzeau, Margaret A. Pericak-Vance, Michael A. Hauser, Shiwani Sharma, John H. Fingert, Andrew White, Grant W. Montgomery, Douglas E. Gaasterland, Paul R. Lichter, Richard A. Mills, Joel S. Schuman, Jae H. Kang, Matthew Law, Jonathan L. Haines

المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)

مصطلحات موضوعية: Male, 0301 basic medicine, Intraocular pressure, genetic structures, Optic disk, lcsh:Medicine, Muscle Proteins, Glaucoma, Genome-wide association study, 0302 clinical medicine, Risk Factors, lcsh:Science, Genetics, Multidisciplinary, LIM Domain Proteins, Middle Aged, Retinoic Acid 4-Hydroxylase, 3. Good health, Phenotype, Female, Glaucoma, Open-Angle, Genotype, Open angle glaucoma, Endophenotypes, LIM-Homeodomain Proteins, Optic Disk, Locus (genetics), Quantitative trait locus, Biology, Polymorphism, Single Nucleotide, Article, Tonometry, Ocular, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, gamma-Crystallins, Intraocular Pressure, Aged, lcsh:R, Calcium-Binding Proteins, Membrane Proteins, Macular degeneration, medicine.disease, eye diseases, 030104 developmental biology, Case-Control Studies, 030221 ophthalmology & optometry, lcsh:Q, sense organs, Visual Fields, Genome-Wide Association Study, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b51aa370db671dce4d05df4cd7c4455bTest
https://doi.org/10.1038/s41598-018-20435-9Test

المؤلفون: R. Rand Allingham, Douglas J Rhee, Julia E. Richards, Donald J. Zack, Mariusz Butkiewicz, Margaret A. Pericak-Vance, Janey L. Wiggs, Richard K. Lee, William K. Scott, Hugues Aschard, Lisa A Hark, Arthur J. Sit, Alex W. Hewitt, Felipe A. Medeiros, Gadi Wollstein, Sayoko E. Moroi, Louis R. Pasquale, Jessica N. Cooke Bailey, Murray H. Brilliant, Stuart MacGregor, Donald L. Budenz, William G. Christen, John H. Fingert, Yeunjoo E. Song, Jamie E Craig, Thasarat S. Vajaranant, Tony Realini, David A. Sullivan, Daniel I. Chasman, Peter Kraft, Jonathan L. Haines, Robert P. Igo, Jae H. Kang, Robert N. Weinreb, Joel S. Schuman, Kuldev Singh, Robert Ritch, Kathryn P. Burdon, Yutao Liu, Puya Gharahkhani, David A. Mackey, Michael A. Hauser, Terry Gaasterland, Douglas Vollrath, Bernard Rosner, Allison E. Ashley-Koch

المساهمون: Harvard Medical School [Boston] (HMS), University of California [San Diego] (UC San Diego), University of California, Harvard T.H. Chan School of Public Health

المصدر: Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2018, 59 (2), pp.629. ⟨10.1167/iovs.17-22708⟩
Investigative ophthalmology & visual science, vol 59, iss 2

مصطلحات موضوعية: Male, 0301 basic medicine, primary open-angle glaucoma, genetic structures, Datasets as Topic, Genome-wide association study, Ophthalmology & Optometry, Medical and Health Sciences, MESH: Genotype, 0302 clinical medicine, Gene Frequency, genetics, MESH: Datasets as Topic, Low Tension Glaucoma, MESH: Low Tension Glaucoma, Genetics, [STAT.AP]Statistics [stat]/Applications [stat.AP], MESH: Middle Aged, MESH: Polymorphism, Single Nucleotide, Single Nucleotide, Middle Aged, Biological Sciences, Pathway analysis, pathway analysis, Open-Angle, Female, [STAT.ME]Statistics [stat]/Methodology [stat.ME], Glaucoma, Open-Angle, Metabolic Networks and Pathways, Genotype, Open angle glaucoma, MESH: Testosterone, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG) Consortium, 03 medical and health sciences, MESH: Intraocular Pressure, MESH: Gene Frequency, Humans, Polymorphism, 1000 Genomes Project, Estrogen Metabolism, Allele frequency, Intraocular Pressure, MESH: Humans, Glaucoma, Testosterone (patch), eye diseases, MESH: Male, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Metabolic Networks and Pathways, testosterone, MESH: Genome-Wide Association Study, 030221 ophthalmology & optometry, MESH: Glaucoma, Open-Angle, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, sense organs, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], MESH: Female, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::085d9740d37a72c5216216334f75d84cTest
https://hal-pasteur.archives-ouvertes.fr/pasteur-03278714Test

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/s41467-018-03646-6Test

مصطلحات 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

المؤلفون: S.E. Moroi, Christopher J Hammond, Peter Kraft, Terri L. Young, Tin Aung, Unnar Thorsteinsdottir, R. Rand Allingham, Francesca Pasutto, Murray H. Brilliant, Robert P. Igo, Joel S. Schuman, Paul R. Lichter, Adriana I. Iglesias Gonzalez, Jessica N. Cooke Bailey, Jonathan L. Haines, Chiea Chuen Khor, Robert Ritch, René Hoehn, John H. Fingert, Puya Gharahkhani, Terry Gaasterland, Calvin C P Pang, Cheng Yu Cheng, Louis R. Pasquale, Lisa A Hark, Andrew J. Lotery, Douglas Vollrath, Yutao Liu, David A. Mackey, Stuart MacGregor, William K. Scott, Pirro G. Hysi, Alex W. Hewitt, Jae H. Kang, Cornelia M. van Duijn, Arthur J. Sit, Margaret A. Pericak-Vance, Michael A. Hauser, Peter Bonnemaijer, Veronique Vitart, Kuldev Singh, D. L. Budenz, Doaa Nabih Maria, Gudmar Thorleifsson, Julia R. Richards, Kari Stefansson, Sumana R Chintalapudi, Doug Rhee, Richard K. Lee, Anthony P Khawaja, Anthony Realini, Robert W. Williams, Eranga N. Vithana, Gadi Wollstein, Fridbert Jonansson, Jamie E Craig, Xiang Di Wang, Tanja Zeller, Douglas E. Gaasterland, Donald J. Zack, Caroline C W Klaver, Janey L. Wiggs, Monica M. Jablonski

المساهمون: Psychiatry, Epidemiology, Clinical Genetics, Ophthalmology

المصدر: Chintalapudi, S R, Maria, D, Di Wang, X, Bailey, J N C, Allingham, R, Brilliant, M, Budenz, D, Fingert, J, Gaasterland, D, Gaasterland, T, Haines, J L, Hark, L, Hauser, M, Igo, R, Hee Kang, J, Kraft, P, Lee, R, Lichter, P, Liu, Y, Moroi, S, Pasquale, L R, Pericak-Vance, M, Realini, A, Rhee, D, Richards, J R, Ritch, R, Schuman, J, Scott, W K, Singh, K, Sit, A, Vollrath, D, Wollstein, G, Zack, D, Aung, T, Bonnemaijer, P, Cheng, C Y, Craig, J, Van Duijn, C, Gharahkhani, P, Iglesias Gonzalez, A, Hammond, C J, Hewitt, A, Hoehn, R, Jonansson, F, Khawaja, A, Chuen Khor, C, Klaver, C C W, Lotery, A, MacKey, D, MacGregor, S, Pang, C, Pasutto, F, Stefansson, K, Thorleifsson, G, Thorsteinsdottir, U, Vitart, V, Vithana, E, Young, T, Zeller, T, Hysi, P G, Wiggs, J L, Williams, R W & Jablonski, M M 2017, ' Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility ', Nature Communications, vol. 8, no. 1, 1755 . https://doi.org/10.1038/s41467-017-00837-5Test
Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)
Nature Communications
Nature Communications, 8(1):1755. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Male, Intraocular pressure, Candidate gene, genetic structures, General Physics and Astronomy, Glaucoma, Genome-wide association study, Disease, Bioinformatics, Cohort Studies, Mice, 0302 clinical medicine, lcsh:Science, Multidisciplinary, biology, 3. Good health, Mice, Inbred DBA, CACNA2D1, Female, Glaucoma, Open-Angle, Open angle glaucoma, Science, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Genetic variation, medicine, Animals, Humans, Genetic Predisposition to Disease, Intraocular Pressure, Aged, business.industry, General Chemistry, medicine.disease, eye diseases, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, 030221 ophthalmology & optometry, biology.protein, lcsh:Q, Calcium Channels, sense organs, business, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b10ace24e0c92bcd94cc63b53e0738fTest
http://www.scopus.com/inward/record.url?scp=85035018930&partnerID=8YFLogxKTest

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

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