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1
المؤلفون: Wenrong Xu, Yan Li, Yujie Dong, Libo Xiao, Lan Li, Kangwei Jiao
المصدر: International Ophthalmology. 42:2385-2395
مصطلحات موضوعية: Cyclic Nucleotide Phosphodiesterases, Type 6, Mice, Mice, Inbred C3H, Ophthalmology, Mutation, Animals, Chromatin Immunoprecipitation Sequencing, RNA-Seq, Retinitis Pigmentosa
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2
المؤلفون: Li, Yuyu, Li, Ruyi, Dai, Hehua, Li, Genlin
المصدر: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-12 (2022)
BMC Ophthalmologyمصطلحات موضوعية: China, Cyclic Nucleotide Phosphodiesterases, Type 6, Research, General Medicine, RE1-994, Pedigree, Retinitis pigmentosa, Phenotypes, Ophthalmology, Phenotype, Mutation, PDE6A,PDE6B, Humans, Novel variants, Eye Proteins
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3
المؤلفون: Sahil Gulati, Krzysztof Palczewski
المصدر: Curr Opin Struct Biol
مصطلحات موضوعية: chemistry.chemical_classification, Cyclic Nucleotide Phosphodiesterases, Type 6, Phosphoric Diester Hydrolases, Transducin Alpha, Protein subunit, Cryoelectron Microscopy, Allosteric regulation, Phosphodiesterase, Article, Rod Photoreceptors, Enzyme, chemistry, Retinal Rod Photoreceptor Cells, Structural Biology, Catalytic Domain, Biophysics, sense organs, Molecular Biology, Visual phototransduction
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4
المؤلفون: Krzysztof Palczewski, Alyaa Shmara, Timothy Ton, Cheng Cheng, Jesse D. Vargas, Marja Pitkänen, Virginia Kimonis, Lan Weiss, Teemu Turunen, Sama Saeid, Christopher L. Sander, Henri Leinonen, Lac Ta, Jianye Zhang, Ari Koskelainen
المصدر: J Pharmacol Exp Ther
مصطلحات موضوعية: Male, Indoles, genetic structures, Sildenafil, Valosin-containing protein, Mice, Transgenic, Pharmacology, Toxicology, Retina, Mice, chemistry.chemical_compound, Valosin Containing Protein, In vivo, Electroretinography, medicine, Animals, Cyclic Nucleotide Phosphodiesterases, Type 6, Dose-Response Relationship, Drug, medicine.diagnostic_test, biology, business.industry, Phosphodiesterase, Mice, Inbred C57BL, Pyrimidines, chemistry, Vardenafil, biology.protein, Molecular Medicine, Cattle, Female, sense organs, business, Zaprinast, Erg, Photic Stimulation, medicine.drug
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5
المؤلفون: Seoon Kang, Eunju Kang, Bora Kim, Joo Yong Lee, Sunho Chung, KyungA Yun, Jee Myung Yang, Seongjun So
المصدر: Experimental & Molecular Medicine
مصطلحات موضوعية: Retinal degeneration, Pathology, medicine.medical_specialty, genetic structures, Cell Transplantation, Induced Pluripotent Stem Cells, Clinical Biochemistry, Retinal Pigment Epithelium, Biochemistry, Article, Retina, Photoreceptor cell, Animals, Genetically Modified, Macular Degeneration, chemistry.chemical_compound, Retinitis pigmentosa, medicine, Animals, Humans, Induced pluripotent stem cell, Molecular Biology, Retinal regeneration, Cyclic Nucleotide Phosphodiesterases, Type 6, business.industry, Retinal, Translational research, Macular degeneration, medicine.disease, eye diseases, Rats, Stem-cell research, Transplantation, Disease Models, Animal, medicine.anatomical_structure, chemistry, Gene Knockdown Techniques, Molecular Medicine, sense organs, business
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6
المؤلفون: Lee, Jungeun, Lee, Ho Jin, Lee, Yeongcheol, Lim, Bumhee, Gam, Jongsik, Oh, Dong-Chan, Lee, Jeeyeon
المصدر: Journal of enzyme inhibition and medicinal chemistry. 37(1)
مصطلحات موضوعية: Pharmacology, Proto-Oncogene Proteins p21(ras), Cyclic Nucleotide Phosphodiesterases, Type 6, Binding Sites, Protein Domains, Neoplasms, Drug Discovery, Humans, General Medicine
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7
المؤلفون: null Anosha Ali Khan, null Yar Muhammad Waryah, null Muhammad Iqbal, null Hafiz Muhammad Azhar Baig, null Muhammad Rafique, null Ali Muhammad Waryah, null Admin
المصدر: Journal of the Pakistan Medical Association. :1-15
مصطلحات موضوعية: Adult, Adolescent, Genetic counseling, Genes, Recessive, Pedigree chart, Consanguinity, Young Adult, Genetic linkage, Retinitis pigmentosa, medicine, Humans, Pakistan, Family history, Child, Eye Proteins, Aged, Aged, 80 and over, Genetics, Cyclic Nucleotide Phosphodiesterases, Type 6, business.industry, General Medicine, Middle Aged, medicine.disease, Disease gene identification, Child, Preschool, Mutation, Mutation (genetic algorithm), Microsatellite, business, Retinitis Pigmentosa
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8
المؤلفون: Sae-Mi Lee, Joon Seon Song, Joo Yong Lee, You Na Kim, Eul-Ju Seo, Chang Ahn Seol, Young Hee Yoon, Changwon Keum, Seak Hee Oh, Jong-Moon Choi, Yoon Jeon Kim, Go Hun Seo, Beom Hee Lee
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Visual acuity, Adolescent, Fundus Oculi, lcsh:Medicine, Diseases, Genetic analysis, Article, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Text mining, Asian People, PDE6B, Internal medicine, Retinitis pigmentosa, Exome Sequencing, medicine, Genetics, Humans, Computer Simulation, lcsh:Science, Macular edema, Exome sequencing, Aged, Cyclic Nucleotide Phosphodiesterases, Type 6, Multidisciplinary, business.industry, Disease progression, lcsh:R, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, Female, lcsh:Q, medicine.symptom, business, Retinitis Pigmentosa, Tomography, Optical Coherence
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9
المؤلفون: Michalis Georgiou, Michel Michaelides, Chrisostomos Prodromou, Isabelle Meunier, James W B Bainbridge, Hoang Mai Le, Anne-Françoise Roux, Almudena Sacristán-Reviriego, Béatrice Bocquet, Jacqueline van der Spuy
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-15 (2020)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Molecular biology, Leber Congenital Amaurosis, lcsh:Medicine, Diseases, Pathogenesis, Epitopes, chemistry.chemical_compound, 0302 clinical medicine, Gene Frequency, Missense mutation, lcsh:Science, Genetics, Microscopy, Confocal, Multidisciplinary, Homozygote, Retinal Degeneration, Middle Aged, Tetratricopeptide, Phenotype, Retinitis Pigmentosa, Adult, Heterozygote, Cell biology, Adolescent, CHO Cells, Biology, Retina, Article, Young Adult, 03 medical and health sciences, Cricetulus, Medical research, Retinitis pigmentosa, medicine, Animals, Humans, HSP90 Heat-Shock Proteins, Allele, Allele frequency, Alleles, Adaptor Proteins, Signal Transducing, Aged, Cyclic Nucleotide Phosphodiesterases, Type 6, lcsh:R, Genetic Variation, Dystrophy, Retinal, DNA, medicine.disease, HEK293 Cells, 030104 developmental biology, chemistry, 030221 ophthalmology & optometry, lcsh:Q, sense organs
وصف الملف: application/pdf
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10
المؤلفون: Teklab Gebregiworgis, Christopher B. Marshall, Fenneke KleinJan, Geneviève M.C. Gasmi-Seabrook, Ben J Eves, Masahiro Enomoto, Ningdi F Liu, Ki-Young Lee, Mitsuhiko Ikura, Zhenhao Fang
المصدر: Journal of Biomolecular NMR. 74:531-554
مصطلحات موضوعية: 0301 basic medicine, GTP', Druggability, GTPase, 010402 general chemistry, 01 natural sciences, Biochemistry, Proto-Oncogene Proteins p21(ras), Small Molecule Libraries, 03 medical and health sciences, Prenylation, Drug Discovery, Guanine Nucleotide Exchange Factors, Humans, Nuclear Magnetic Resonance, Biomolecular, Spectroscopy, Ras Inhibitor, Cyclic Nucleotide Phosphodiesterases, Type 6, Chemistry, Drug discovery, Effector, Membrane Proteins, 0104 chemical sciences, 3. Good health, Cell biology, 030104 developmental biology, Mutation, Lipid modification, Protein Binding, Signal Transduction
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11
المؤلفون: Sun, Wenmin, Li, Shiqiang, Xiao, Xueshan, Wang, Panfeng, Qingjiong Zhang
المصدر: Molecular Vision
Web of Scienceمصطلحات موضوعية: Cyclic Nucleotide Phosphodiesterases, Type 6, Genotype, DNA Mutational Analysis, Cyclic Nucleotide-Gated Cation Channels, Color Vision Defects, Heterotrimeric GTP-Binding Proteins, Activating Transcription Factor 6, Cohort Studies, Phenotype, 3',5'-Cyclic-GMP Phosphodiesterases, Mutation, Exome Sequencing, Electroretinography, Retinal Cone Photoreceptor Cells, Humans, Family, Eye Proteins, Alleles, Cone-Rod Dystrophies, Genetic Association Studies, Research Article
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12
المؤلفون: Hesam Hashemian, Davood Zare-Abdollahi, Ata Bushehri, Ladan Safavizadeh, Hamid Reza Khorram Khorshid, Jalil Effati
المصدر: Iranian Biomedical Journal, Vol 24, Iss 4, Pp 257-263 (2020)
Iranian Biomedical Journalمصطلحات موضوعية: Adult, Male, Models, Molecular, Achromatopsia, In silico, Clinical Biochemistry, Mutation, Missense, lcsh:Medicine, Color Vision Defects, Case Report, Biology, General Biochemistry, Genetics and Molecular Biology, Photoreceptor cell, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, Electroretinography, medicine, Humans, Missense mutation, Allele, Eye Proteins, Gene, Alleles, Exome sequencing, Genetics, Cyclic Nucleotide Phosphodiesterases, Type 6, 0303 health sciences, Base Sequence, 030306 microbiology, Biochemistry (medical), lcsh:R, medicine.disease, Pedigree, medicine.anatomical_structure, pde6c, 030220 oncology & carcinogenesis, Female, achromatopsia, Visual phototransduction
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13
المؤلفون: Guoqiang Dong, Xu Wang, Chunquan Sheng, Yu Li, Junfei Cheng
المصدر: Journal of Medicinal Chemistry. 63:7892-7905
مصطلحات موضوعية: Male, Phosphodiesterase Inhibitors, Ubiquitin-Protein Ligases, Mutant, Druggability, Apoptosis, medicine.disease_cause, 01 natural sciences, Proto-Oncogene Proteins p21(ras), Rats, Sprague-Dawley, Structure-Activity Relationship, 03 medical and health sciences, Cell Line, Tumor, Drug Discovery, medicine, Animals, Humans, Structure–activity relationship, neoplasms, 030304 developmental biology, Cyclic Nucleotide Phosphodiesterases, Type 6, Mice, Inbred BALB C, 0303 health sciences, Molecular Structure, Chemistry, Cereblon, Cancer, medicine.disease, Pomalidomide, Small molecule, digestive system diseases, 0104 chemical sciences, Pyridazines, 010404 medicinal & biomolecular chemistry, Drug Design, Mutation, Proteolysis, Cancer research, Pyrazoles, Molecular Medicine, Female, KRAS, Colorectal Neoplasms, medicine.drug
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14
المؤلفون: Zhen Yang, HuiFang Li, Ming Zou, Xiaoshuang Jiang, Lanya Peng, Chen Liang, Yingying Chen
المصدر: Stem Cells and Development. 29:786-794
مصطلحات موضوعية: Cell Transplantation, Nerve Tissue Proteins, Synapse, Mice, medicine, Animals, Photoreceptor Cells, Cyclic Nucleotide Phosphodiesterases, Type 6, Retina, biology, Host (biology), Retinal Degeneration, Late stage, food and beverages, Cell Biology, Hematology, eye diseases, Connection (mathematics), Mice, Inbred C57BL, Transplantation, surgical procedures, operative, medicine.anatomical_structure, Mutation, Synapses, biology.protein, Pikachurin, Retinal function, sense organs, Carrier Proteins, Neuroscience, Developmental Biology
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15Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa
المؤلفون: Laura, Kuehlewein, Torsten, Straßer, Gunnar, Blumenstock, Katarina, Stingl, M Dominik, Fischer, Barbara, Wilhelm, Eberhart, Zrenner, Bernd, Wissinger, Susanne, Kohl, Nicole, Weisschuh, Ditta, Zobor
المصدر: Investigative ophthalmologyvisual science. 63(5)
مصطلحات موضوعية: Male, Cyclic Nucleotide Phosphodiesterases, Type 6, Mutation, Visual Acuity, Humans, Female, Eye Proteins, Genetic Association Studies, Retinitis Pigmentosa, Pedigree
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16
المؤلفون: Kelath Murali Manoj, Hirohisa Tamagawa, Nikolai Bazhin, Laurent Jaeken, Vijay Nirusimhan, Federico Faraci, Daniel A. Gideon
المصدر: Journal of cellular physiologyREFERENCES. 237(8)
مصطلحات موضوعية: Cyclic Nucleotide Phosphodiesterases, Type 6, Rhodopsin, genetic structures, Physiology, Clinical Biochemistry, Cell Biology, Guanosine Diphosphate, Models, Biological, Retina, Oxygen, Superoxides, Animals, Photoreceptor Cells, sense organs, Transducin, Vision, Ocular, Signal Transduction
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17
المؤلفون: Sara Canovas Nunes, Serena De Vita, Andrew Anighoro, François Autelitano, Edward Beaumont, Pamela Klingbeil, Meaghan McGuinness, Beatrice Duvert, Chad Harris, Lu Yang, Sheela Pangeni Pokharel, Chun-Wei Chen, Monika Ermann, David A. Williams, Haiming Xu
المصدر: Blood Cancer Journal. 12
مصطلحات موضوعية: Cyclic Nucleotide Phosphodiesterases, Type 6, Oncology, ras Proteins, Humans, Hematology, Signal Transduction
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18
المؤلفون: Tamas Yelland, Esther Garcia, Charles Parry, Dominika Kowalczyk, Marta Wojnowska, Andrea Gohlke, Matja Zalar, Kenneth Cameron, Gillian Goodwin, Qing Yu, Peng-Cheng Zhu, Yasmin ElMaghloob, Angelo Pugliese, Lewis Archibald, Andrew Jamieson, Yong Xiang Chen, Duncan McArthur, Justin Bower, Shehab Ismail
المساهمون: University of St Andrews. School of Chemistry
مصطلحات موضوعية: STRUCTURAL BASIS, Chemistry, Medicinal, Proto-Oncogene Proteins p21(ras), DOMAIN, Cell Line, Tumor, Drug Discovery, PRENYLATION, KRAS, Humans, TOOL, QD, Pharmacology & Pharmacy, Cyclic Nucleotide Phosphodiesterases, Type 6, Science & Technology, MUTATIONS, Cell Membrane, DAS, QD Chemistry, AC, PDE-DELTA, ARL2-GTP, Molecular Medicine, MEMBRANE, Peptides, Life Sciences & Biomedicine, Protein Binding, Signal Transduction
وصف الملف: application/pdf; Print-Electronic
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19
المؤلفون: Vismaya S. Bachu, Sangeetha Kandoi, Ko Uoon Park, Michael L. Kaufman, Michael Schwanke, Deepak A. Lamba, Joseph A. Brzezinski
المصدر: Developmental biology. 488
مصطلحات موضوعية: Cyclic Nucleotide Phosphodiesterases, Type 6, Induced Pluripotent Stem Cells, Cell Biology, Introns, Retina, Animals, Genetically Modified, Mice, Retinal Cone Photoreceptor Cells, Animals, Humans, Eye Proteins, Molecular Biology, Developmental Biology, Transcription Factors
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20
المؤلفون: Sevdalina Nikolova, Andreas Guenther, Rajkumar Savai, Norbert Weissmann, Hossein A. Ghofrani, Melanie Konigshoff, Oliver Eickelberg, Walter Klepetko, Robert Voswinckel, Werner Seeger, Friedrich Grimminger, Ralph T. Schermuly, Soni S. Pullamsetti
المصدر: Respiratory Research, Vol 23, Iss 1, Pp 1-2 (2022)
Respiratory Researchمصطلحات موضوعية: Male, Cyclic Nucleotide Phosphodiesterases, Type 6, RC705-779, Correction, Down-Regulation, Middle Aged, Immunohistochemistry, Idiopathic Pulmonary Fibrosis, Diseases of the respiratory system, Gene Expression Regulation, Humans, Female, Tissue Distribution, RNA, Messenger, Lung