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1Academic Journal
المؤلفون: Jiexuan Shen, Dandan Huang, Jiale Li, Weixin Ye, Zheng Wang, Zhiyi Bai
المصدر: Aquaculture and Fisheries, Vol 7, Iss 1, Pp 18-22 (2022)
مصطلحات موضوعية: Fresh water pearl mussel, Hyriopsis cumingii, Uroporphyrinogen III synthetase, Nacre color, Aquaculture. Fisheries. Angling, SH1-691
وصف الملف: electronic resource
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2
المؤلفون: Cécile Ged, Stéphane Blanche, Dominique Debray, Marina Cavazzana, Louise Galmiche-Rolland, Caroline Schmitt, Elisa Magrin, Caroline Besnard, Thierry Jo Molina, Martin Castelle, Bénédicte Neven, Despina Moshous, Laurent Gouya, Monique Fabre, Marie-Louise Frémond
المصدر: Biology of Blood and Marrow Transplantation. 26:704-711
مصطلحات موضوعية: medicine.medical_specialty, Porphyria, Erythropoietic, medicine.medical_treatment, Congenital erythropoietic porphyria, Hematopoietic stem cell transplantation, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Fibrosis, Internal medicine, Biopsy, medicine, Humans, Child, Bone Marrow Transplantation, Retrospective Studies, Transplantation, medicine.diagnostic_test, business.industry, Liver Diseases, Hematopoietic Stem Cell Transplantation, Hematology, medicine.disease, Uroporphyrinogen III Synthetase, Pathophysiology, surgical procedures, operative, Porphyria, 030220 oncology & carcinogenesis, Liver function, business, 030215 immunology, Rare disease
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3
المؤلفون: Jérôme Toutain, Grégoire Cullot, Samuel Amintas, Emmanuel Richard, Isabelle Moranvillier, François Moreau-Gaudry, Florence Prat, Sandrine Dabernat, Aurélie Bedel, Magalie Lalanne, Isabelle Lamrissi-Garcia, Julian Boutin, Jean-Marc Blouin
المساهمون: Biothérapies des maladies génétiques et cancers, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Université de Bordeaux (UB), Laboratoire d'Excellence : Biogenèse et pathologies du globule rouge (Labex Gr-Ex), Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CCSD, Accord Elsevier
المصدر: Stem Cell Reports
Stem Cell Reports, Elsevier, 2020, 15, pp.677-693. ⟨10.1016/j.stemcr.2020.07.015⟩مصطلحات موضوعية: 0301 basic medicine, Heterozygote, precise genome editing, [SDV]Life Sciences [q-bio], Induced Pluripotent Stem Cells, Congenital erythropoietic porphyria, iPSCs, Biology, congenital erythropoietic porphyria, Compound heterozygosity, medicine.disease_cause, Biochemistry, Article, 03 medical and health sciences, Porphyrias, 0302 clinical medicine, CRISPR-Associated Protein 9, compound heterozygous recessive disease, Genetics, medicine, CRISPR, Humans, Guide RNA, Allele, Gene, CRISPR/Cas9, Alleles, Gene Editing, Mutation, Base Sequence, mutation specific, Cas9, Stem Cells, Cell Biology, Exons, Genetic Therapy, Uroporphyrinogen III Synthetase, gene therapy, 3. Good health, Clone Cells, [SDV] Life Sciences [q-bio], 030104 developmental biology, Karyotyping, CRISPR-Cas Systems, 030217 neurology & neurosurgery, Developmental Biology, RNA, Guide, Kinetoplastida
وصف الملف: application/pdf
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4Academic Journal
المساهمون: T-W Kang, S-W Oh, M-R Kim, JS Lee, S-C Kim, Kim, Soo Chan
مصطلحات موضوعية: Adult, Codon, Terminator, Exons, Heterozygote, Humans, Male, Mutation, Missense, Phenotype, Porphyria, Erythropoietic/enzymology, Erythropoietic/genetics, Erythropoietic/pathology, Uroporphyrinogen III Synthetase/genetics
وصف الملف: 470~471
Relation: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY; J01783; OAK-2009-01761; https://ir.ymlib.yonsei.ac.kr/handle/22282913/105101; T200903498; JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, Vol.23(4) : 470-471, 2009
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5
المؤلفون: Anita C, Parker, Hector A, Bergonia, Nathaniel L, Seals, Cecile L, Baccanale, Edson R, Rocha
المصدر: Infect Immun
مصطلحات موضوعية: Male, Virulence, Genetic Complementation Test, Biological Transport, Heme, Bacterial Infections, Bacteroides Infections, Binding, Competitive, Uroporphyrinogen III Synthetase, Bacteroides fragilis, Mice, Inbred C57BL, Rats, Sprague-Dawley, Mice, Bacterial Proteins, Gene Expression Regulation, Host-Pathogen Interactions, Animals, Humans, Intraabdominal Infections, Ferrochelatase, Gene Deletion, Protein Binding
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6
المؤلفون: Emmanuel Richard, Pierre Costet, Said Lyoumi, Cécile Ged, Thibaud Lefebvre, Magalie Lalanne, Hervé Puy, Zoubida Karim, Hubert de Verneuil, François Moreau-Gaudry, Isabelle Lamrissi-Garcia, Jean-Marc Blouin, Sarah Millot, Laurent Gouya
المساهمون: Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7)
المصدر: Biochemical and Biophysical Research Communications
Biochemical and Biophysical Research Communications, Elsevier, 2019, 520 (2), pp.297-303. ⟨10.1016/j.bbrc.2019.09.141⟩مصطلحات موضوعية: 0301 basic medicine, Hemolytic anemia, Male, medicine.medical_specialty, Iron Overload, Porphyrins, Anemia, Iron, Porphyria, Erythropoietic, Ferroportin, Biophysics, Congenic, Congenital erythropoietic porphyria, Mice, Inbred Strains, Biochemistry, Hemolysis, 03 medical and health sciences, 0302 clinical medicine, Hepcidins, Hepcidin, hemic and lymphatic diseases, Internal medicine, medicine, Animals, Molecular Biology, Cation Transport Proteins, ComputingMilieux_MISCELLANEOUS, Mice, Inbred BALB C, biology, business.industry, Cell Biology, medicine.disease, Uroporphyrinogen III Synthetase, 3. Good health, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, Endocrinology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 030220 oncology & carcinogenesis, biology.protein, Erythropoiesis, Female, business
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7
المؤلفون: O V, Kretova, D M, Fedoseeva, Y V, Kravatsky, E S, Klushevskaya, I R, Alembekov, I Y, Slovohotov, N A, Tchurikov
المصدر: Molekuliarnaia biologiia. 54(2)
مصطلحات موضوعية: DEAD-box RNA Helicases, DNA-Binding Proteins, HEK293 Cells, Calcium-Binding Proteins, Humans, Nuclear Proteins, Cell Cycle Proteins, Chromatin Assembly and Disassembly, DNA, Ribosomal, Uroporphyrinogen III Synthetase, Chromatin, Epigenesis, Genetic, Transcription Factors
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8
المؤلفون: Fejes, A. V., Best, M. G., van der Heijden, W. A., Vancura, A., Verschueren, H., de Mast, Q., Wurdinger, T., Mannhalter, C.
المساهمون: Neurosurgery, CCA - Cancer immunology, AII - Cancer immunology, CCA - Cancer biology and immunology, CCA - Imaging and biomarkers
المصدر: Scientific Reports, 8
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-13 (2018)
Scientific reports, 8(1). Nature Publishing Group
Fejes, A V, Best, M G, van der Heijden, W A, Vancura, A, Verschueren, H, de Mast, Q, Wurdinger, T & Mannhalter, C 2018, ' Impact of Escherichia coli K12 and O18:K1 on human platelets : Differential effects on platelet activation, RNAs and proteins ', Scientific Reports, vol. 8, no. 1, 16145 . https://doi.org/10.1038/s41598-018-34473-w
Scientific Reports, 8(1):16145. Nature Publishing Groupمصطلحات موضوعية: Escherichia coli K12/genetics, Blood Platelets, Lipopolysaccharides, Uroporphyrinogen III Synthetase/genetics, Antigens, Bacterial/genetics, lcsh:Medicine, Nerve Tissue Proteins, Calcium-Transporting ATPases, Article, Tetraspanin 30/genetics, P-Selectin/genetics, All institutes and research themes of the Radboud University Medical Center, Nerve Tissue Proteins/genetics, Platelet Activation/genetics, Humans, Calcium-Transporting ATPases/blood, lcsh:Science, Escherichia coli Infections, Antigens, Bacterial, Lipopolysaccharides/genetics, Escherichia coli K12, Sequence Analysis, RNA, Tetraspanin 30, lcsh:R, Gene Expression Regulation, Bacterial/genetics, Gene Expression Regulation, Bacterial, Platelet Activation, Uroporphyrinogen III Synthetase, P-Selectin, lnfectious Diseases and Global Health Radboud Institute for Health Sciences [Radboudumc 4], RNA, lcsh:Q, Blood Platelets/metabolism, RNA/blood, Escherichia coli Infections/blood
وصف الملف: application/pdf
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9
المؤلفون: Valentina Brancaleoni, Elena Di Pierro, Francesca Granata
المصدر: British Journal of Haematology. 173:365-379
مصطلحات موضوعية: 0301 basic medicine, Porphyrins, Porphyria, Erythropoietic, Uroporphyrinogen III synthase, Congenital erythropoietic porphyria, Heme, Biology, medicine.disease_cause, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, medicine, Humans, GATA1 Transcription Factor, Genetics, Mutation, GATA1, Hematology, Uroporphyrinogen III Synthetase, ALAS2, Phenotype, 030104 developmental biology, chemistry, Immunology, biology.protein
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10
المؤلفون: Grégoire, Cullot, Julian, Boutin, Jérôme, Toutain, Florence, Prat, Perrine, Pennamen, Caroline, Rooryck, Martin, Teichmann, Emilie, Rousseau, Isabelle, Lamrissi-Garcia, Véronique, Guyonnet-Duperat, Alice, Bibeyran, Magalie, Lalanne, Valérie, Prouzet-Mauléon, Béatrice, Turcq, Cécile, Ged, Jean-Marc, Blouin, Emmanuel, Richard, Sandrine, Dabernat, François, Moreau-Gaudry, Aurélie, Bedel
المساهمون: Université de Bordeaux (UB), Biothérapies des maladies génétiques et cancers, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Maladies Rares - Génétique et Métabolisme (MRGM), Université Bordeaux Segalen - Bordeaux 2-Hôpital Pellegrin-Service de Génétique Médicale du CHU de Bordeaux, Acides Nucléiques : Régulations Naturelle et Artificielle (ARNA), Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Actions for OnCogenesis understanding and Target Identification in ONcology (ACTION), Institut Bergonié [Bordeaux], UNICANCER-UNICANCER-Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Bordeaux Segalen - Bordeaux 2-Institut Bergonié [Bordeaux], UNICANCER-UNICANCER, Turcq, Beatrice
المصدر: Nature Communications
Nature Communications, 2019, 10, pp.1136. ⟨10.1038/s41467-019-09006-2⟩
Nature Communications, Nature Publishing Group, 2019, 10, pp.1136. ⟨10.1038/s41467-019-09006-2⟩
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)مصطلحات موضوعية: Porphyria, Erythropoietic, Science, Primary Cell Culture, Models, Biological, Article, CRISPR-Associated Protein 9, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Deoxyribonuclease I, Humans, Clustered Regularly Interspaced Short Palindromic Repeats, DNA Breaks, Double-Stranded, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, lcsh:Science, Gene Editing, Chromosomes, Human, Pair 10, Genome, Human, High-Throughput Nucleotide Sequencing, Recombinational DNA Repair, DNA, Genetic Therapy, Fibroblasts, Uroporphyrinogen III Synthetase, HEK293 Cells, lcsh:Q, CRISPR-Cas Systems, Chromosome Deletion, Tumor Suppressor Protein p53, K562 Cells, RNA, Guide, Kinetoplastida
وصف الملف: application/pdf
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11
المؤلفون: Joaquín Castilla, Pedro Urquiza, Jean-Marc Blouin, Fredj Ben Bdira, Virginia Gutiérrez-de-Juan, Iratxe Macías, Oscar Millet, Ana Laín, Arantza Sanz-Parra, Juan Anguita, José M. Mato, Ganeko Bernardo-Seisdedos, Gabriel Ortega, Jorge Moreno, Juan M. Falcón-Pérez, Julen Oyarzabal, Itxaso San Juan, Juan Rodríguez-Cuesta, Emmanuel Richard, Emilio Díez, Sandra García, Paula Pluta, Rosario González-Muñiz, Pierre Dubus, Hubert de Verneuil, Hasier Eraña, Esperanza Gonzalez
المصدر: Science Translational Medicine. 10
مصطلحات موضوعية: 0301 basic medicine, Porphyria, Erythropoietic, Uroporphyrinogen III synthase, Congenital erythropoietic porphyria, Pharmacology, Biophysical Phenomena, Cell Line, Mice, 03 medical and health sciences, chemistry.chemical_compound, medicine, Animals, Homeostasis, Heme, chemistry.chemical_classification, biology, Ciclopirox, business.industry, Skin photosensitivity, Drug Repositioning, General Medicine, medicine.disease, Uroporphyrinogen III Synthetase, Pharmacological chaperone, Disease Models, Animal, Phenotype, 030104 developmental biology, Enzyme, Porphyria, chemistry, biology.protein, business, Allosteric Site, medicine.drug
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12
المؤلفون: Yedidyah Weiss, Manisha Balwani, Irina Nazarenko, Makiko Yasuda, Robert J. Desnick, Brenden Chen
المصدر: Molecular genetics and metabolism. 128(3)
مصطلحات موضوعية: 0301 basic medicine, Male, Protoporphyria, Erythropoietic, Endocrinology, Diabetes and Metabolism, Uroporphyrinogen III synthase, Porphyria, Erythropoietic, Congenital erythropoietic porphyria, Heme, 030105 genetics & heredity, medicine.disease_cause, Biochemistry, 03 medical and health sciences, Genetic Heterogeneity, 0302 clinical medicine, Endocrinology, Genetics, medicine, Humans, Family, Photosensitivity Disorders, Molecular Biology, Mutation, biology, business.industry, Genetic Carrier Screening, Ferrochelatase, medicine.disease, ALAS2, Uroporphyrinogen III Synthetase, Molecular Diagnostic Techniques, Erythropoietic porphyria, Aminolevulinic acid synthase, biology.protein, Female, Erythropoietic protoporphyria, business, 030217 neurology & neurosurgery
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13
المؤلفون: Gloria Durán S, Angélica Wietstruck, Isabel Ogueta C, Carlos Reyes, Claudia Salomone B, Noemí Aguirre
المصدر: Archivos Argentinos de Pediatria. 116
مصطلحات موضوعية: 0301 basic medicine, Hemolytic anemia, medicine.medical_specialty, biology, 040301 veterinary sciences, business.industry, Eye involvement, Uroporphyrinogen III synthase, Congenital erythropoietic porphyria, 04 agricultural and veterinary sciences, Uroporphyrinogen III Synthetase, medicine.disease, Dermatology, 0403 veterinary science, 03 medical and health sciences, 030104 developmental biology, Skin fragility, Porphyria, Pediatrics, Perinatology and Child Health, biology.protein, Medicine, skin and connective tissue diseases, business, Severe course
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14
المؤلفون: Laurent Fernando, Jonathan D. Tyzack, Janet M. Thornton, António J. M. Ribeiro, Neera Borkakoti
المصدر: Structure (London, England : 1993). 26(4)
مصطلحات موضوعية: 0301 basic medicine, Uroporphyrinogens, Protein Data Bank (RCSB PDB), Computational biology, Ligands, Molecular Docking Simulation, Ranking (information retrieval), Substrate Specificity, 03 medical and health sciences, 0302 clinical medicine, Similarity (network science), Structural Biology, Humans, Binding site, Molecular Biology, Biosimilar Pharmaceuticals, Topology (chemistry), Virtual screening, Binding Sites, Chemistry, Uroporphyrinogen III Synthetase, Acetylcholine, 030104 developmental biology, Acetylcholinesterase, Pharmacophore, 030217 neurology & neurosurgery, Protein Binding
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15
المؤلفون: Liya Jiao, Qingqing Wang, Qing Zhou, Xiaohua Huang, Lihong Wang, Zhiyong Qiu
المصدر: Environmental Science and Pollution Research. 22:5877-5886
مصطلحات موضوعية: Chlorophyll, endocrine system, Bisphenol A, Health, Toxicology and Mutagenesis, Uroporphyrinogen III synthase, Uroporphyrinogen III decarboxylase, Porphobilinogen deaminase, Protoporphyrins, Photosynthesis, chemistry.chemical_compound, Phenols, polycyclic compounds, Uroporphyrinogen Decarboxylase, Environmental Chemistry, Protoporphyrinogen Oxidase, Benzhydryl Compounds, Analysis of Variance, biology, urogenital system, food and beverages, Porphobilinogen Synthase, Aminolevulinic Acid, General Medicine, Uroporphyrinogen III Synthetase, Pollution, Biosynthetic Pathways, Hydroxymethylbilane Synthase, Plant Leaves, Spectrometry, Fluorescence, chemistry, Biochemistry, Seedlings, Dehydratase, biology.protein, Environmental Pollutants, Protoporphyrinogen oxidase, Soybeans, hormones, hormone substitutes, and hormone antagonists
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16
المؤلفون: Hisao Ohtake, Aiko Hibino, Jochen Büchs, René Petri
المصدر: Applied Microbiology and Biotechnology. 97:7337-7344
مصطلحات موضوعية: Hot Temperature, Uroporphyrinogen III synthase, Porphobilinogen deaminase, Uroporphyrinogens, medicine.disease_cause, Applied Microbiology and Biotechnology, chemistry.chemical_compound, Escherichia coli, medicine, chemistry.chemical_classification, biology, Porphobilinogen synthase, Thermus thermophilus, Porphobilinogen Synthase, Aminolevulinic Acid, General Medicine, biology.organism_classification, Uroporphyrinogen III Synthetase, Tetrapyrrole, Recombinant Proteins, Hydroxymethylbilane Synthase, Enzyme, Metabolic Engineering, chemistry, Biochemistry, Uroporphyrinogen III, biology.protein, Metabolic Networks and Pathways, Biotechnology
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17
المؤلفون: Mª José Moreno, Célia Bádenas, Izaskun Elorza, Cristina Díaz de Heredia, Carmen Herrero, Salvador Arias-Santiago, Teresa Olivé, Paloma Nogueras, Carmen Martinez Peinado, Jesús Tercedor, Jordi To-Figueras
المصدر: Pediatric Dermatology. 30:484-489
مصطلحات موضوعية: Male, Hemolytic anemia, Porphyria, Erythropoietic, Uroporphyrinogen III synthase, medicine.medical_treatment, Congenital erythropoietic porphyria, Dermatology, Hematopoietic stem cell transplantation, Asymptomatic, Humans, Medicine, biology, business.industry, Histocompatibility Testing, Hematopoietic Stem Cell Transplantation, Infant, medicine.disease, Uroporphyrinogen III Synthetase, Transplantation, Haematopoiesis, Treatment Outcome, Inborn error of metabolism, Pediatrics, Perinatology and Child Health, Immunology, biology.protein, medicine.symptom, business
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18
المؤلفون: Cécile Ged, Ganeko Bernardo-Seisdedos, Pedro Urquiza, Emmanuel Richard, Arantza Sanz-Parra, Jean-Marc Blouin, Magalie Lalanne, Julie Esteve, Hubert de Verneuil, Oscar Millet, Emma Sasso
المصدر: Human molecular genetics. 26(8)
مصطلحات موضوعية: 0301 basic medicine, Proteasome Endopeptidase Complex, Protein Folding, Uroporphyrinogen III synthase, Porphyria, Erythropoietic, Congenital erythropoietic porphyria, Mutation, Missense, 030105 genetics & heredity, Protein degradation, medicine.disease_cause, 03 medical and health sciences, Structure-Activity Relationship, Genetics, medicine, Missense mutation, Homeostasis, Humans, Molecular Biology, Genetics (clinical), Mutation, biology, Skin photosensitivity, Computational Biology, General Medicine, Uroporphyrinogen III Synthetase, 030104 developmental biology, Proteostasis, biology.protein, Cancer research, Chemical chaperone, Proteasome Inhibitors
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19
المؤلفون: András, Szilágyi, Dániel, Györffy, Péter, Závodszky
المصدر: Proteins. 85(1)
مصطلحات موضوعية: Evolution, Molecular, Motion, Bacterial Proteins, Protein Domains, Entropy, Thermus thermophilus, Uroporphyrinogens, Biocatalysis, Molecular Dynamics Simulation, Ligands, Uroporphyrinogen III Synthetase, Protein Structure, Secondary, Protein Binding
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20
المؤلفون: Xuewen Pan, Yongxiang Li, Ameeta K. Agarwal, Tao Xu, Zhiwei Huang, John D. Phillips, Kaifu Chen, Wei Li, Alice M. Clark, Jianhuai Zhang
المصدر: Eukaryotic Cell. 10:1536-1544
مصطلحات موضوعية: Saccharomyces cerevisiae Proteins, Uroporphyrinogens, Saccharomyces cerevisiae, Heme, Heterocyclic Compounds, 4 or More Rings, Microbiology, Mitochondrial Proteins, Jurkat Cells, chemistry.chemical_compound, Alkaloids, ATP-Dependent Proteases, Uroporphyrinogen, Cell Line, Tumor, medicine, Humans, Protoporphyrinogen Oxidase, Naphthyridines, Molecular Biology, Cell Proliferation, chemistry.chemical_classification, Reactive oxygen species, biology, Plant Extracts, Articles, General Medicine, Mitochondrial Proton-Translocating ATPases, biology.organism_classification, Uroporphyrinogen III Synthetase, Electron transport chain, Yeast, Mechanism of action, chemistry, Biochemistry, medicine.symptom, Reactive Oxygen Species
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