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1Academic Journal
المؤلفون: Beloribi-Djefaflia, Sadia, Morales, Raul Juntas, Fatehi, Farzad, Isapof, Arnaud, Servais, Laurent, Leonard-Louis, Sarah, Michaud, Maud, Verdure, Pierre, Gidaro, Teresa, Pouget, Jean, Poinsignon, Vianney, Bonello-Palot, Nathalie, Attarian, Shahram
المصدر: Journal of Neurology, 271 (3), 1355 - 1365 (2024-03)
مصطلحات موضوعية: CMT4J, Case report, Charcot, Conduction blocks, FIG4, Marie, Parkinsonism, Tooth, FIG4 protein, human, Flavoproteins, Phosphoric Monoester Hydrolases, Adolescent, Humans, Heterozygote, Mutation/genetics, Phenotype, Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth Disease/diagnosis, Charcot-Marie-Tooth Disease/genetics, Flavoproteins/genetics, Phosphoric Monoester Hydrolases/genetics, Charcot-Marie-Tooth Disease, Mutation, Neurology, Neurology (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie
Relation: https://link.springer.com/content/pdf/10.1007/s00415-023-12076-4.pdf; urn:issn:0340-5354; urn:issn:1432-1459
URL الوصول: https://orbi.uliege.be/handle/2268/325164
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2Academic JournalElectron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease
المصدر: Henriques , B J , Katrine Jentoft Olsen , R , Gomes , C M & Bross , P 2021 , ' Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease ' , Gene , vol. 776 , 145407 . https://doi.org/10.1016/j.gene.2021.145407
مصطلحات موضوعية: Amino acid degradation, FAD, Fatty acid oxidation, Flavoenzyme, Mitochondria, Multiple acyl-CoA dehydrogenase deficiency, Respiratory chain, BETA-OXIDATION, RESPIRATORY-CHAIN, ALPHA-SUBUNIT, UBIQUINONE OXIDOREDUCTASE, PIG-LIVER, COENZYME-A DEHYDROGENASE, MEGASPHAERA-ELSDENII, ACYL-COA DEHYDROGENASE, FATTY-ACID OXIDATION, HUMAN METTL20, Mitochondria/metabolism, Humans, Ubiquinone/analogs & derivatives, Electron Transport/genetics, Energy Metabolism/physiology, Oxidation-Reduction, Models, Molecular, Adenosine Monophosphate, Iron-Sulfur Proteins, Electron-Transferring Flavoproteins/genetics, Mutation, Flavin-Adenine Dinucleotide
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3Academic Journal
المؤلفون: Chaves, I. (Ines), Yagita, K. (Kazuhiro), Barnhoorn, S. (Sander), Okamura, H. (Hitoshi), Horst, G.T.J. (Gijsbertus) van der, Tamanini, F. (Filippo)
المصدر: Molecular and Cellular Biology vol. 26 no. 5, pp. 1743-1753
مصطلحات موضوعية: Evolution, Molecular, Amino Acid Sequence, Animals, Arabidopsis Proteins/metabolism, Base Sequence, Basic Helix-Loop-Helix Transcription Factors/genetics/metabolism, Cell Cycle Proteins, Cell Nucleus/metabolism, Cells, Cultured, Circadian Rhythm/*physiology, Conserved Sequence, Deoxyribodipyrimidine Photo-Lyase/metabolism, Flavoproteins/genetics/*metabolism, Gene Expression Regulation, Mammals, Mice, Molecular Sequence Data, Nuclear Localization Signals, Nuclear Proteins/metabolism, Protein Structure, Tertiary, Protein Transport, Trans-Activators/genetics/metabolism, Transcription Factors/metabolism, Transcription, Genetic
Relation: http://repub.eur.nl/pub/13981; urn:hdl:1765/13981
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4Academic Journal
المؤلفون: Zimmermann, Milan, Schuster, Stefanie, Schöls, Ludger, Boesch, Sylvia, Korenke, G Christoph, Mohr, Julia, Reichbauer, Jennifer, Kernstock, Christoph, Kotzot, Dieter, Spahlinger, Veronika, Schüle-Freyer, Rebecca
المصدر: Parkinsonism & related disorders 74, 6 - 11 (2020). doi:10.1016/j.parkreldis.2020.03.021
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adult, Aged, Charcot-Marie-Tooth Disease: genetics, Charcot-Marie-Tooth Disease: physiopathology, Cleidocranial Dysplasia: genetics, Cleidocranial Dysplasia: physiopathology, Ectodermal Dysplasia: genetics, Ectodermal Dysplasia: physiopathology, Female, Fibroblasts, Flavoproteins: genetics, Humans, Limb Deformities, Congenital: genetics, Congenital: physiopathology, Male, Micrognathism: genetics, Micrognathism: physiopathology, Middle Aged, Mutation, Parkinsonian Disorders: genetics, Parkinsonian Disorders: physiopathology, Pedigree, Phenotype, Phosphoric Monoester Hydrolases: genetics, Young Adult
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:32268254; info:eu-repo/semantics/altIdentifier/issn/1873-5126; info:eu-repo/semantics/altIdentifier/issn/1353-8020; https://pub.dzne.de/record/153337; https://pub.dzne.de/search?p=id:%22DZNE-2020-01334%22
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5Academic Journal
المؤلفون: S. Ausenda, V. Moriondo, V. Besana, E. Di Pierro, V. Brancaleoni, M. D. Cappellini, MARCHINI, Stefano, VENTURA, Paolo, ROCCHI, Emilio
المساهمون: S., Ausenda, V., Moriondo, Marchini, Stefano, V., Besana, E., Di Pierro, V., Brancaleoni, Ventura, Paolo, Rocchi, Emilio, M. D., Cappellini
مصطلحات موضوعية: Amino Acid Substitution Codon/genetics Flavoproteins/*genetics Humans Mitochondrial Proteins/*genetics Molecular Sequence Data *Mutation, Missense Porphyria, Variegate/*genetics Protoporphyrinogen Oxidase/*genetics
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/19320019; volume:125; firstpage:333; lastpage:352; journal:HUMAN GENETICS; http://hdl.handle.net/11380/832893; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-64249120821
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6Academic Journal
المؤلفون: Majerus, T., Kottke, T.
المصدر: Biophysical journal 96, 1462 - 1470 (2009). doi:10.1016/j.bpj.2008.11.016
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Arabidopsis: chemistry, Arabidopsis Proteins, Cryptochromes, Cysteine: chemistry, Flavoproteins: chemistry, Flavoproteins: genetics, Kinetics, Lasers, Light, Models, Molecular, Mutation, Protein Structure, Secondary, Tertiary, Spectroscopy, Fourier Transform Infrared, CRY1 protein, Arabidopsis, Flavoproteins, Cysteine
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000266377800021; info:eu-repo/semantics/altIdentifier/pmid/pmid:19217862; info:eu-repo/semantics/altIdentifier/issn/0006-3495; https://juser.fz-juelich.de/record/3640; https://juser.fz-juelich.de/search?p=id:%22PreJuSER-3640%22
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7Academic Journal
المؤلفون: Wisor, J.P., Pasumarthi, R.K., Gerashchenko, D., Thompson, C.L., Pathak, S., Sancar, A., Franken, P., Lein, E.S., Kilduff, T.S.
المصدر: Journal of Neuroscience, vol. 28, no. 28, pp. 7193-7201
مصطلحات موضوعية: Alpha Rhythm, Analysis of Variance, Animals, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Cerebral Cortex/physiology, Circadian Rhythm/genetics, Flavoproteins/genetics, Flavoproteins/metabolism, Gene Expression Regulation/physiology, Mice, Inbred Strains, Knockout, Nuclear Proteins/genetics, Nuclear Proteins/metabolism, Sleep Deprivation/metabolism, Species Specificity, Trans-Activators/genetics, Trans-Activators/metabolism, Transcription Factors/genetics, Transcription Factors/metabolism
Relation: info:eu-repo/semantics/altIdentifier/pmid/18614689; info:eu-repo/semantics/altIdentifier/pissn/1529-2401[electronic]; https://serval.unil.ch/notice/serval:BIB_5FBE89BC2AF8
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8Academic Journal
المؤلفون: Borradori, L., Van Tuyll van Serooskerken, A.M., Abraham, S., Hohl, D., Schneider-Yin, X., Minder, E., Frank, J.
المصدر: British Journal of Dermatology, vol. 159, no. 2, pp. 503-505
مصطلحات موضوعية: Adult, Diseases in Twins/genetics, Flavoproteins/genetics, Hand Dermatoses/genetics, Humans, Male, Mitochondrial Proteins/genetics, Pedigree, Porphyria, Variegate/genetics, Protoporphyrinogen Oxidase/genetics, Twins, Monozygotic
Relation: info:eu-repo/semantics/altIdentifier/pmid/18544078; info:eu-repo/semantics/altIdentifier/pissn/1365-2133[electronic]; https://serval.unil.ch/notice/serval:BIB_F4CF04BF9ED7
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9Academic Journal
المؤلفون: Wisor, J. P., Pasumarthi, R. K., Gerashchenko, D., Thompson, C. L., Pathak, S., Sancar, A., Franken, P., Lein, E. S., Kilduff, T. S.
المصدر: The Journal of Neuroscience - The Official Journal of the Society for Neuroscience, 28(28)
مصطلحات موضوعية: Knockout, Alpha Rhythm, Gene Expression Regulation/physiology, Analysis of Variance, Nuclear Proteins/genetics, Flavoproteins/genetics, Species Specificity, Transcription Factors/metabolism, Trans-Activators/genetics, Sleep Deprivation/metabolism, Mice, Inbred Strains, Cerebral Cortex/physiology, Transcription Factors/genetics, Animals, Nuclear Proteins/metabolism, Flavoproteins/metabolism, Cell Cycle Proteins/genetics, Trans-Activators/metabolism, Cell Cycle Proteins/metabolism, Circadian Rhythm/genetics
Relation: https://doi.org/10.17615/wdhc-jg43; https://cdr.lib.unc.edu/downloads/kh04dz397?file=thumbnail; https://cdr.lib.unc.edu/downloads/kh04dz397
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10Academic Journal
المؤلفون: Fischer, Horst, Gonzales, Linda K, Kolla, Venkatadri, Schwarzer, Christian, Miot, Françoise, Illek, Beate, Ballard, Philip L
المصدر: American journal of physiology. Lung cellular and molecular physiology, 292 (6
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Acids -- metabolism, Cell Differentiation -- drug effects, Cell Differentiation -- physiology, Cells, Cultured, Dexamethasone -- pharmacology, Fetus -- cytology, Flavoproteins -- genetics, Flavoproteins -- metabolism, Gene Expression Regulation, Developmental, Glucocorticoids -- pharmacology, Humans, Hydrogen Peroxide -- metabolism, NADPH Oxidase -- genetics, NADPH Oxidase -- metabolism, Phenotype, Pulmonary Alveoli -- cytology, Pulmonary Alveoli -- embryology, Pulmonary Alveoli -- physiology, RNA, Messenger -- metabolism, Respiratory Mucosa -- cytology, Respiratory Mucosa -- embryology, Respiratory Mucosa -- physiology, Up-Regulation -- drug effects, Up-Regulation -- physiology
وصف الملف: No full-text files
Relation: uri/info:doi/10.1152/ajplung.00029.2007; uri/info:pii/00029.2007; uri/info:pmid/17337509; uri/info:scp/34447578644; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53010
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11Academic Journal
المؤلفون: Rigutto, Sabrina, Hoste, Candice, Dumont, Jacques, Corvilain, Bernard, Miot, Françoise, De Deken, Xavier
المصدر: Experimental Cell Research, 313 (18
مصطلحات موضوعية: Biologie moléculaire, Animals, CHO Cells, Cell Line, Clone Cells, Cricetinae, Cricetulus, Flavoproteins -- genetics, Flavoproteins -- metabolism, Gene Expression, Gene Expression Regulation, Gene Silencing, Humans, Hydrogen Peroxide -- metabolism, Iodides -- metabolism, Lentivirus, NADPH Oxidase, RNA, Messenger -- genetics, Messenger -- metabolism, Small Interfering -- metabolism, Rats, Thyroid Gland -- cytology, Thyroid Gland -- metabolism, Duox, H2O2, NOX, PCCl3, siRNA, Thyroid
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.1016/j.yexcr.2007.06.011; uri/info:pii/S0014-4827(07)00289-3; uri/info:pmid/17643428; uri/info:scp/35248820555; local/xdd-0001; uri/info:ulb-repo/set/1; https://dipot.ulb.ac.be/dspace/bitstream/2013/41093/5/Elsevier_17417.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/41093
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12Academic Journal
المصدر: Molecular Endocrinology, 21 (6
مصطلحات موضوعية: Biologie moléculaire, Animals, Cell Membrane -- enzymology, Cells, Cultured, Congenital Hypothyroidism -- enzymology, Congenital Hypothyroidism -- genetics, Endoplasmic Reticulum -- enzymology, Flavoproteins -- chemistry, Flavoproteins -- genetics, Flavoproteins -- metabolism, Humans, Hydrogen Peroxide -- metabolism, Mannosyl-Glycoprotein Endo-beta-N-Acetylglucosaminidase -- chemistry, Membrane Proteins -- chemistry, Membrane Proteins -- metabolism, Mutation, Missense, NADPH Oxidase -- chemistry, NADPH Oxidase -- genetics, NADPH Oxidase -- metabolism, Oxidation-Reduction, Polysaccharides -- chemistry, Protein Folding, Protein Transport, Rats
وصف الملف: 2 full-text file(s): application/pdf | application/pdf
Relation: uri/info:doi/10.1210/me.2007-0018; uri/info:pii/me.2007-0018; uri/info:pmid/17374849; uri/info:scp/34250842260; local/xdd-0002; https://dipot.ulb.ac.be/dspace/bitstream/2013/41095/3/2007MolEnd-MissenseMutationsofDualOxidase2_DUOX2_.pdf; https://dipot.ulb.ac.be/dspace/bitstream/2013/41095/6/doi_17418.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/41095
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13Academic Journal
المؤلفون: Immeln, D., Schlesinger, R., Heberle, J., Kottke, T.
المصدر: The journal of biological chemistry 282, 21720 - 21728 (2007). doi:10.1074/jbc.M700849200
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, Animals, Chlamydomonas: physiology, Chlamydomonas: radiation effects, Cryptochromes, DNA, Protozoan: genetics, Protozoan: isolation & purification, Escherichia coli: genetics, Flavoproteins: genetics, Flavoproteins: metabolism, Flavoproteins: radiation effects, Free Radicals, Kinetics, Light, Light Signal Transduction, Phosphorylation, Protozoan Proteins: metabolism, Protozoan Proteins: radiation effects, Recombinant Proteins: metabolism, Recombinant Proteins: radiation effects, Protozoan, Flavoproteins, Protozoan Proteins, Recombinant Proteins
جغرافية الموضوع: DE
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000248196800019; info:eu-repo/semantics/altIdentifier/pmid/pmid:17548357; info:eu-repo/semantics/altIdentifier/issn/0021-9258; https://juser.fz-juelich.de/record/59358; https://juser.fz-juelich.de/search?p=id:%22PreJuSER-59358%22
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14Academic Journal
المصدر: American journal of respiratory cell and molecular biology, 32 (5
مصطلحات موضوعية: Sciences bio-médicales et agricoles, Calcium -- metabolism, Cell Line, Cell Polarity, Epithelial Cells -- cytology, Epithelial Cells -- metabolism, Flavoproteins -- antagonists & inhibitors, Flavoproteins -- genetics, Flavoproteins -- metabolism, Horseradish Peroxidase -- metabolism, Humans, Hydrogen Peroxide -- metabolism, NADPH Oxidase -- antagonists & inhibitors, NADPH Oxidase -- genetics, NADPH Oxidase -- metabolism, Oxazines -- metabolism, Oxidants -- metabolism, Oxidation-Reduction, Respiratory Mucosa -- cytology, Respiratory Mucosa -- metabolism, Thapsigargin -- metabolism, Trachea -- cytology, Trachea -- metabolism
وصف الملف: No full-text files
Relation: uri/info:doi/10.1165/rcmb.2004-0302OC; uri/info:pii/2004-0302OC; uri/info:pmid/15677770; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/53006
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15Academic Journal
المؤلفون: Olsen, Rikke K J, Andresen, Brage S, Christensen, Ernst, Mandel, Hanna, Skovby, Flemming, Nielsen, Jens Peter, Knudsen, Inga, Vianey-Saban, Christine, Simonsen, Henrik, Gregersen, Niels
المصدر: Olsen , R K J , Andresen , B S , Christensen , E , Mandel , H , Skovby , F , Nielsen , J P , Knudsen , I , Vianey-Saban , C , Simonsen , H & Gregersen , N 2005 , ' DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency ' , Prenatal Diagnosis , vol. 25 , no. 1 , pp. 60-4 . https://doi.org/10.1002/pd.983
مصطلحات موضوعية: Acyl-CoA Dehydrogenase/deficiency, Adult, Cells, Cultured, Chorionic Villi Sampling/methods, DNA/analysis, Electron-Transferring Flavoproteins/genetics, Female, Humans, Iron-Sulfur Proteins/genetics, Mutation, Oxidoreductases Acting on CH-NH Group Donors/genetics, Pregnancy, Pregnancy Trimester, First, Reproducibility of Results
Relation: https://pure.au.dk/portal/da/publications/dnabased-prenatal-diagnosis-for-severe-and-variant-forms-of-multiple-acylcoa-dehydrogenation-deficiency(a887f0c3-8cb4-41a8-b857-a7912e8b5092).html
الاتاحة: https://pure.au.dk/portal/da/publications/dnabased-prenatal-diagnosis-for-severe-and-variant-forms-of-multiple-acylcoa-dehydrogenation-deficiency(a887f0c3-8cb4-41a8-b857-a7912e8b5092).html
https://doi.org/10.1002/pd.983 -
16Academic Journal
المؤلفون: Preitner, Nicolas, Damiola, Francesca, Lopez Molina, Luis, Zakany, Jozsef, Duboule, Denis, Albrecht, Urs, Schibler, Ulrich
المصدر: ISSN: 0092-8674 ; Cell, vol. 110, no. 2 (2002) p. 251-260.
مصطلحات موضوعية: info:eu-repo/classification/ddc/570, info:eu-repo/classification/ddc/590, ARNTL Transcription Factors, Animals, Base Sequence, Basic Helix-Loop-Helix Transcription Factors, Biological Clocks/physiology, CLOCK Proteins, Cell Cycle Proteins, Circadian Rhythm/physiology, Cryptochromes, DNA, Complementary, DNA-Binding Proteins/genetics/metabolism/physiology, Drosophila Proteins, Eye Proteins, Flavoproteins/genetics, Gene Expression Regulation, Heart, Humans, Liver, Mice, Inbred C57BL, Knockout, Molecular Sequence Data, Nuclear Proteins/genetics/metabolism/physiology, Nuclear Receptor Subfamily 1, Group F, Member 1, Member 3
Relation: info:eu-repo/semantics/altIdentifier/pmid/12150932; https://archive-ouverte.unige.ch/unige:43607; unige:43607
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17Academic Journal
المؤلفون: De Deken, Xavier, Wang, Dantong, Dumont, Jacques, Miot, Françoise
المصدر: Experimental Cell Research, 273 (2
مصطلحات موضوعية: Biologie moléculaire, 3T3 Cells, Animals, Cells, Cultured, Dogs, Flavoproteins -- genetics, Flavoproteins -- metabolism, Glycosylation, HL-60 Cells, Hela Cells, Humans, Hydrogen Peroxide -- metabolism, Iodide Peroxidase -- metabolism, Membrane Transport Proteins, Mice, NADPH Dehydrogenase -- metabolism, NADPH Oxidase -- genetics, NADPH Oxidase -- metabolism, Phosphoproteins -- metabolism, Thyroid Gland -- cytology, Thyroid Gland -- enzymology, Thyroid Gland -- metabolism, Transfection, H2O2-generating system, NADPH oxidase, NOX, Protein maturation, ThOX, Thyroid
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.1006/excr.2001.5444; uri/info:pii/S0014482701954448; uri/info:pmid/11822874; uri/info:scp/0036056296; local/xdd-0008; uri/info:ulb-repo/set/1; https://dipot.ulb.ac.be/dspace/bitstream/2013/41107/1/2002ECR-Characterization of ThOX Proteins as Components of the Thyroid H2O2-Generating System.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/41107
الاتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/41107
https://dipot.ulb.ac.be/dspace/bitstream/2013/41107/1/2002ECR-Characterization of ThOX Proteins as Components of the Thyroid H2O2-Generating System.pdf -
18
المؤلفون: Ueli Schibler, Nicolas Preitner, Francesca Damiola, Denis Duboule, Luis-Lopez-Molina, J. Zakany, Urs Albrecht
المصدر: Cell, Vol. 110, No 2 (2002) pp. 251-260
مصطلحات موضوعية: Transcription, Genetic, DNA-Binding Proteins/genetics/metabolism/physiology, Receptors, Retinoic Acid, Circadian clock, CLOCK Proteins, Receptors, Cytoplasmic and Nuclear, Cell Cycle Proteins, RAR-related orphan receptor alpha, Receptors, G-Protein-Coupled, Receptors, Cytoplasmic and Nuclear/genetics/metabolism/physiology, Mice, ddc:590, Flavoproteins/genetics, Basic Helix-Loop-Helix Transcription Factors, Drosophila Proteins, Promoter Regions, Genetic, Mice, Knockout, Receptors, Thyroid Hormone, ARNTL Transcription Factors, Nuclear Proteins, Heart, Nuclear Receptor Subfamily 1, Group F, Member 1, Period Circadian Proteins, Nuclear Receptor Subfamily 1, Group F, Member 3, Bacterial circadian rhythms, Cell biology, Circadian Rhythm, PER2, CLOCK, DNA-Binding Proteins, Liver, Biological Clocks/physiology, Circadian Rhythm/physiology, Photoreceptor Cells, Invertebrate, Suprachiasmatic Nucleus, PER1, medicine.medical_specialty, endocrine system, DNA, Complementary, Nuclear Proteins/genetics/metabolism/physiology, Molecular Sequence Data, Transcription Factors/genetics, Trans-Activators/genetics/metabolism, Biology, Response Elements, General Biochemistry, Genetics and Molecular Biology, Biological Clocks, Internal medicine, ddc:570, medicine, Animals, Humans, RNA, Messenger, Eye Proteins, Base Sequence, Flavoproteins, Biochemistry, Genetics and Molecular Biology(all), Rats, Cryptochromes, Mice, Inbred C57BL, Endocrinology, Gene Expression Regulation, Trans-Activators, Transcription Factors
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19
المؤلفون: Ausenda, S., Moriondo, V., Marchini, S., Besana, V., Elena Di Pierro, Brancaleoni, V., Ventura, P., Rocchi, E., Cappellini, M. D.
المصدر: ResearcherID
Scopus-Elsevier
Valentina Brancaleoniمصطلحات موضوعية: Mitochondrial Proteins, Amino Acid Substitution Codon/genetics Flavoproteins/*genetics Humans Mitochondrial Proteins/*genetics Molecular Sequence Data *Mutation, Amino Acid Substitution, Flavoproteins, Missense Porphyria, Molecular Sequence Data, Mutation, Missense, Variegate/*genetics Protoporphyrinogen Oxidase/*genetics, Humans, Porphyria, Variegate, Protoporphyrinogen Oxidase, Codon