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1Academic Journal
المؤلفون: Montaser, Ahmed, Gao, Fangyuan, Peters, Danielle, Vainionpää, Katri, Zhibin, Ning, Skowronska-Krawczyk, Dorota, Figeys, Daniel, Palczewski, Krzysztof, Leinonen, Henri
المصدر: Molecular & Cellular Proteomics. 23(11)
مصطلحات موضوعية: P23H, Rpe65(−/−), inherited retinal degenerations, rd10, retinal degeneration, retinal proteome, retinitis pigmentosa, Animals, Retinitis Pigmentosa, Disease Models, Animal, Proteome, Mice, Retina, Retinal Degeneration, Cyclic Nucleotide Phosphodiesterases, Type 6, Proteomics, Eye Proteins, Mice, Inbred C57BL, Leber Congenital Amaurosis, cis-trans-Isomerases
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2Academic Journal
المؤلفون: Ramadoss, Sivakumar, Qin, Juan, Tao, Bo, Thomas, Nathan E, Cao, Edward, Wu, Rimao, Sandoval, Daniel R, Piermatteo, Ann, Grunddal, Kaare V, Ma, Feiyang, Li, Shen, Sun, Baiming, Zhou, Yonggang, Wan, Jijun, Pellegrini, Matteo, Holst, Birgitte, Lusis, Aldons J, Gordts, Philip LSM, Deb, Arjun
المصدر: Nature Cardiovascular Research. 3(11)
مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Heart Disease - Coronary Heart Disease, Cardiovascular, Heart Disease, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Animals, Receptors, G-Protein-Coupled, Humans, Macrophages, Membrane Glycoproteins, Myocardial Infarction, Mice, Knockout, Disease Models, Animal, Myocytes, Cardiac, Male, Mice, Inbred C57BL, Signal Transduction, Ventricular Function, Left, Heart Failure, Female, Mice, Cells, Cultured, Ventricular Dysfunction, Left, Bone Marrow Transplantation, Protein Binding, Regeneration, Eye Proteins
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3Academic Journal
المؤلفون: Safrina, Olga, Vorontsova, Irene, Donaldson, Paul, Schilling, Thomas
المصدر: Investigative Ophthalmology & Visual Science. 65(11)
مصطلحات موضوعية: Animals, Zebrafish, Aquaporins, Lens, Crystalline, Eye Proteins, Water, Permeability, Zebrafish Proteins, Calcium, Gene Expression Regulation, Developmental, Animals, Genetically Modified
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4Academic Journal
المؤلفون: Liang, Xiaoyi, Hoang, Kendy, Meyerink, Brandon, Kc, Pratiksha, Paraiso, Kitt, Wang, Li, Jones, Ian, Zhang, Yue, Katzman, Sol, Finn, Thomas, Tsyporin, Jeremiah, Qu, Fangyuan, Chen, Zhaoxu, Visel, Axel, Kriegstein, Arnold, Shen, Yin, Pilaz, Louis-Jan, Chen, Bin
المصدر: Proceedings of the National Academy of Sciences. 121(20)
مصطلحات موضوعية: Olig2, enhancer, gliogenesis, lineage switch, neurogenesis, Animals, Neurogenesis, Cerebral Cortex, Basic Helix-Loop-Helix Transcription Factors, ErbB Receptors, Mice, Oligodendrocyte Transcription Factor 2, Nerve Tissue Proteins, Hedgehog Proteins, PAX6 Transcription Factor, Neural Stem Cells, Homeodomain Proteins, Zinc Finger Protein Gli3, Eye Proteins, Repressor Proteins, Paired Box Transcription Factors, Neuroglia, Gene Expression Regulation, Developmental, Signal Transduction, Olfactory Bulb, Cell Lineage, Humans
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5Academic Journal
المؤلفون: Patil, Shruti, Kaipa, Balasankara, Ranshing, Sujata, Sundaresan, Yogapriya, Millar, J, Nagarajan, Bhavani, Kiehlbauch, Charles, Zhang, Qihong, Jain, Ankur, Searby, Charles, Scheetz, Todd, Clark, Abbot, Sheffield, Val, Zode, Gulab
المصدر: Scientific Reports. 14(1)
مصطلحات موضوعية: ER stress, Gene therapy, Genome editing for glaucoma, Intraocular pressure, Lentiviral particles, Myocilin-associated Glaucoma, Trabecular meshwork, Viral vectors, Animals, Mice, CRISPR-Cas Systems, Cytoskeletal Proteins, Disease Models, Animal, Eye Proteins, Glaucoma, Open-Angle, Glycoproteins, Intraocular Pressure, Lentivirus, Trabecular Meshwork
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6Academic Journal
المؤلفون: Hitti-Malin, Rebekkah, Panneman, Daan, Corradi, Zelia, Boonen, Erica, Astuti, Galuh, Dhaenens, Claire-Marie, Stöhr, Heidi, Weber, Bernhard, Sharon, Dror, Banin, Eyal, Karali, Marianthi, Banfi, Sandro, Ben-Yosef, Tamar, Glavač, Damjan, Farrar, G, Ayuso, Carmen, Liskova, Petra, Dudakova, Lubica, Vajter, Marie, Ołdak, Monika, Szaflik, Jacek, Matynia, Anna, Gorin, Michael, Kämpjärvi, Kati, Bauwens, Miriam, De Baere, Elfride, Hoyng, Carel, Li, Catherina, Klaver, Caroline, Inglehearn, Chris, Fujinami, Kaoru, Rivolta, Carlo, Allikmets, Rando, Zernant, Jana, Lee, Winston, Podhajcer, Osvaldo, Fakin, Ana, Sajovic, Jana, AlTalbishi, Alaa, Valeina, Sandra, Taurina, Gita, Vincent, Andrea, Roberts, Lisa, Ramesar, Raj, Sartor, Giovanna, Luppi, Elena, Downes, Susan, van den Born, L, McLaren, Terri, De Roach, John, Lamey, Tina, Thompson, Jennifer, Chen, Fred, Tracewska, Anna, Kamakari, Smaragda, Sallum, Juliana, Bolz, Hanno, Kayserili, Hülya, Roosing, Susanne, Cremers, Frans
المصدر: Biomolecules. 14(3)
مصطلحات موضوعية: inherited, macula, maculopathies, penetrance, retinal, sequencing, Humans, Mutation, Penetrance, Pedigree, Macular Degeneration, Retina, Phenotype, ATP-Binding Cassette Transporters, Eye Proteins, Cadherin Related Proteins, Nerve Tissue Proteins
وصف الملف: application/pdf
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7Academic Journal
المؤلفون: Sazhnyev, Yevgeniy, Venkat, Akaash, Zheng, Jie
المصدر: Genes. 15(2)
مصطلحات موضوعية: aging, glaucoma, somatic mutation, Humans, Cytoskeletal Proteins, Eye Proteins, Glaucoma, Glaucoma, Open-Angle, Glycoproteins, Mutation
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: Ho, Hsin-Yi Henry
مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Eye Disease and Disorders of Vision, Eye Proteins, Humans, Wnt Signaling Pathway, Nerve Tissue Proteins, Retina, Animals, Protein Binding, signaling, Norrie disease, Wnt/beta-catenin pathway, Norrin, Tspan12, None, Wnt/β-catenin pathway, molecular biophysics, none, structural biology, Biological sciences, Biomedical and clinical sciences, Health sciences
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9Academic Journal
المؤلفون: Bassetto, Marco, Zaluski, Jordan, Li, Bowen, Zhang, Jianye, Badiee, Mohsen, Kiser, Philip, Tochtrop, Gregory
المصدر: Journal of medicinal and pharmaceutical chemistry. 66(12)
مصطلحات موضوعية: Retinoids, Propanolamines, Phenyl Ethers, Vision, Ocular, Retinaldehyde, Eye Proteins
وصف الملف: application/pdf
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10Academic Journal
المؤلفون: Wen, Shu, Wang, Meng, Qian, Xinye, Li, Yumei, Wang, Keqing, Choi, Jongsu, Pennesi, Mark, Yang, Paul, Marra, Molly, Koenekoop, Robert, Lopez, Irma, Matynia, Anna, Sui, Ruifang, Yao, Fengxia, Goetz, Kerry, Porto, Fernanda, Chen, Rui, Gorin, Michael
المصدر: Human Molecular Genetics. 32(12)
مصطلحات موضوعية: Humans, Retinal Diseases, Mutation, Whole Genome Sequencing, Exome Sequencing, Alleles, Membrane Glycoproteins, Molecular Chaperones, Eye Proteins
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/18c3g3x6
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11Academic Journal
المؤلفون: Li, Zhiping, Jiao, Xuanmao, Robertson, A, Di Sante, Gabriele, Ashton, Anthony, DiRocco, Agnese, Wang, Min, Zhao, Jun, Addya, Sankar, Wang, Chenguang, McCue, Peter, South, Andrew, Cordon-Cardo, Carlos, Liu, Runzhi, Patel, Kishan, Hamid, Rasha, Parmar, Jorim, DuHadaway, James, Jones, Steven, Casimiro, Mathew, Schultz, Nikolaus, Kossenkov, Andrew, Phoon, Lai, Chen, Hao, Lan, Li, Sun, Yunguang, Iczkowski, Kenneth, Rui, Hallgeir, Pestell, Richard
المصدر: Oncogene. 42(22)
مصطلحات موضوعية: Male, Humans, Prostatic Intraepithelial Neoplasia, Prostatic Neoplasms, Prostate, DNA Damage, Transforming Growth Factor beta, Eye Proteins, Transcription Factors
وصف الملف: application/pdf
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12Academic Journal
المؤلفون: Gait, Anthony, Jenkins, Lucy, Clouston, Penny, Patel, Chetan, Downes, Susan, Kirkby, Jennifer, Halford, Stephanie, Shanks, Morag, Moore, Anthony
المصدر: Genes. 14(6)
مصطلحات موضوعية: X-inactivation, X-linked retinoschisis, carrier, female, heterozygous, Female, Humans, Eye Proteins, Phenotype, Retina, Retinoschisis, X Chromosome Inactivation, Child, Preschool
وصف الملف: application/pdf
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13Academic Journal
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 120(16)
مصطلحات موضوعية: Eye Disease and Disorders of Vision, Genetics, Animals, Genes, Bacterial, Vertebrates, Eye Proteins, Retinoids, Invertebrates, Vision, Ocular, horizontal gene transfer, comparative genomics, phylogenetics, vertebrate eye evolution, Lateral gene transfer
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0kw425tn
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14Academic Journal
المؤلفون: Albakri, Amani, Pisuchpen, Phattrawan, Capasso, Jenina, Schneider, Adele, Kopinsky, Sarina, Chiang, John, Yomai, Anamaria, McNear, Donna, Levin, Alex, Glaser, Tom
المصدر: The American Journal of Medical Genetics - Part A. 191(4)
مصطلحات موضوعية: CRB1, Chuuk, Leber congenital amaurosis, Micronesia, Humans, Leber Congenital Amaurosis, Mutation, Microphthalmos, Genotype, Eye, Pedigree, Eye Proteins, DNA Mutational Analysis, Membrane Proteins, Nerve Tissue Proteins
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/20r8m9kr
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15Academic Journal
المؤلفون: Varela, Malena Daich, Bellingham, James, Motta, Fabiana, Jurkute, Neringa, Ellingford, Jamie M, Quinodoz, Mathieu, Oprych, Kathryn, Niblock, Michael, Janeschitz-Kriegl, Lucas, Kaminska, Karolina, Cancellieri, Francesca, Scholl, Hendrik PN, Lenassi, Eva, Schiff, Elena, Knight, Hannah, Black, Graeme, Rivolta, Carlo, Cheetham, Michael E, Michaelides, Michel, Mahroo, Omar A, Moore, Anthony T, Webster, Andrew R, Arno, Gavin
المصدر: Human Molecular Genetics. 32(4)
مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Humans, Mutation, Pedigree, Retinal Dystrophies, Whole Genome Sequencing, Patient Care Team, DNA Mutational Analysis, Eye Proteins, Membrane Proteins, Nerve Tissue Proteins, Medical and Health Sciences, Genetics & Heredity
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16Academic Journal
المؤلفون: Arias, Juan D, Kalaw, Fritz Gerald P, Alex, Varsha, Yassin, Shaden H, Ferreyra, Henry, Walker, Evan, Wagner, Naomi E, Borooah, Shyamanga
المصدر: Scientific Reports. 13(1)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Neurodegenerative, Eye Disease and Disorders of Vision, Genetics, Clinical Research, Neurosciences, Rare Diseases, Orphan Drug, 2.1 Biological and endogenous factors, Eye, Humans, Macular Edema, Retinitis Pigmentosa, Retina, Retinal Diseases, Macula Lutea, Eye Proteins
وصف الملف: application/pdf
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17Academic Journal
المؤلفون: Boehm, Bernhard O, Kratzer, Wolfgang, Bansal, Vikas
المصدر: European Journal of Human Genetics. 31(1)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Pediatric, Diabetes, Clinical Research, Autoimmune Disease, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Humans, Diabetes Mellitus, Type 2, PAX6 Transcription Factor, Case-Control Studies, Mutation, Eye Abnormalities, Aniridia, Homeodomain Proteins, Eye Proteins, Pedigree, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
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18Academic Journal
المؤلفون: Toal, Ted W, Estrada-Florez, Ana P, Polanco-Echeverry, Guadalupe M, Sahasrabudhe, Ruta M, Lott, Paul C, Suarez-Olaya, John J, Guevara-Tique, Alix A, Rocha, Sienna, Morales-Arana, Alexa, Castro-Valencia, Fabian, Urayama, Shiro, Kirane, Amanda, Wei, Dongguang, Rios-Sarabia, Nora, Medrano, Rafael, Mantilla, Alejandra, de Polanco, Magdalena Echeverry, Torres, Javier, Bohorquez-Lozano, Mabel E, Carvajal-Carmona, Luis G
المصدر: Cancer Research Communications. 2(11)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Prevention, Minority Health, Human Genome, Health Disparities, Genetic Testing, Digestive Diseases, Cancer Genomics, Cancer, Rare Diseases, Good Health and Well Being, Humans, Carcinogenesis, Eye Proteins, Genetic Heterogeneity, Hispanic or Latino, Mutation, Stomach Neoplasms, Asian, White, Prognosis, gastric cancer, stomach cancer, tumor heterogeneity, cancer genomics, cancer disparities, health disparities, tumor evolution, cancer mutations, mutation signatures, targeted therapies, cancer health equity
وصف الملف: application/pdf
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19Academic Journal
المؤلفون: Huh, Carey, Leinonen, Henri, Nakayama, Taylor, Tomasello, Julia, Zhang, Jianye, Zeitoun, Jack, Peach, John, Halabi, Maximilian, Kiser, Jianying, Palczewski, Krzysztof, Kiser, Philip, Gandhi, Sunil
المصدر: Current Biology. 32(20)
مصطلحات موضوعية: 9-cis-retinyl acetate, Leber congenital amaurosis, Lrat, V1, binocularity, childhood blindness, retinal degeneration, retinal disease, retinoid treatment, two-photon calcium imaging, Mice, Animals, Retinal Degeneration, Retinoids, cis-trans-Isomerases, Calcium, Retina, Eye Proteins
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20Academic Journal
المؤلفون: Vijayasarathy, Camasamudram, Zeng, Yong, Marangoni, Dario, Dong, Lijin, Pan, Zhuo-Hua, Simpson, Elizabeth M, Fariss, Robert N, Sieving, Paul A
المصدر: Investigative Ophthalmology & Visual Science. 63(11)
مصطلحات موضوعية: Eye Disease and Disorders of Vision, Genetics, Gene Therapy, Neurosciences, Eye, Animals, Mice, Cysts, Electroretinography, Eye Proteins, Retina, Retinal Bipolar Cells, Retinoschisis, X-linked retinoschisis, schisis, bipolar cells, cell adhesion, photoreceptors, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry
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