المؤلفون: Lecha, Mario, Puy, Hervé, Deybach, Jean-Charles

المساهمون: Department of Dermatology, Hospital Clinic-University of Barcelona, Centre Français des Porphyries, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Louis Mourier - AP-HP Colombes, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche biomédicale Bichat-Beaujon (CRB3), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://inserm.hal.science/inserm-00663934Test ; Orphanet Journal of Rare Diseases, 2009, 4 (1), pp.19. ⟨10.1186/1750-1172-4-19⟩.

مصطلحات موضوعية: MESH: Ferrochelatase, MESH: Humans, MESH: Photosensitivity Disorders, MESH: Protoporphyria, Erythropoietic, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19744342; inserm-00663934; https://inserm.hal.science/inserm-00663934Test; https://inserm.hal.science/inserm-00663934/documentTest; https://inserm.hal.science/inserm-00663934/file/1750-1172-4-19.pdfTest; PUBMED: 19744342

الإتاحة: https://doi.org/10.1186/1750-1172-4-19Test
https://inserm.hal.science/inserm-00663934Test
https://inserm.hal.science/inserm-00663934/documentTest
https://inserm.hal.science/inserm-00663934/file/1750-1172-4-19.pdfTest

المؤلفون: Bo Lönnerdal, Michael Ristow, Alan R. Buckpitt, Robert Schoenfeld, Alice Wong, Hélène Puccio, Eleonora Napoli, Shan Zhan, Franco Taroni, Laurence Reutenauer, Dexter Morin, Gino A Cortopassi

المساهمون: Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2005, 14 (24), pp.3787-99. ⟨10.1093/hmg/ddi393⟩

مصطلحات موضوعية: Transcription, Genetic, MESH: Sequence Homology, Amino Acid, MESH: Coproporphyrinogen Oxidase, Protoporphyrins, MESH: Amino Acid Sequence, Mitochondrion, MESH: Mice, Knockout, MESH: Zinc, Mice, chemistry.chemical_compound, 0302 clinical medicine, Iron-Binding Proteins, MESH: Animals, Heme, Cells, Cultured, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Mammals, Mice, Knockout, 0303 health sciences, biology, Protoporphyrin IX, Coproporphyrinogen Oxidase, Cytochromes c, Heart, MESH: Cytochromes c, General Medicine, Ferrochelatase, Mitochondria, Zinc, MESH: Heme, MESH: Cells, Cultured, MESH: Mutation, MESH: Myocardium, MESH: Protoporphyrins, MESH: Ferrochelatase, MESH: Mitochondria, Molecular Sequence Data, MESH: Mammals, 03 medical and health sciences, Proto-Oncogene Proteins, Genetics, Animals, Humans, Amino Acid Sequence, MESH: Iron-Binding Proteins, MESH: Mice, Molecular Biology, 030304 developmental biology, MESH: Molecular Sequence Data, MESH: Humans, Sequence Homology, Amino Acid, MESH: Transcription, Genetic, Myocardium, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Molecular biology, MESH: Proto-Oncogene Proteins, MESH: Heart, Heme C, Heme A, chemistry, MESH: Oligonucleotide Array Sequence Analysis, Mutation, Frataxin, biology.protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::423543045f02c60929eda695ff8bc85aTest
https://doi.org/10.1093/hmg/ddi393Test

المؤلفون: Seguin, Alexandra, Bayot, Aurélien, Dancis, Andrew, Rogowska-Wrzesinska, Adelina, Auchère, Françoise, Camadro, Jean-Michel, Bulteau, Anne-Laure, Lesuisse, Emmanuel

المساهمون: Institut Jacques Monod (IJM (UMR_7592)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biologie et Biochimie cellulaire du Vieillissement, Université Paris Diderot - Paris 7 (UPD7), Department of Medicine, Division of Hematology-Oncology, University of Pennsylvania, Protein Research Group, University of Southern Denmark (SDU)

المصدر: ISSN: 1567-7249 ; Mitochondrion ; https://hal.science/hal-00503012Test ; Mitochondrion, 2009, 9 (2), pp.130-8. ⟨10.1016/j.mito.2009.01.007⟩.

مصطلحات موضوعية: MESH: Ferrochelatase, MESH: Gene Dosage, MESH: Saccharomyces cerevisiae Proteins, MESH: Stress, Physiological, MESH: Heme, MESH: Iron, MESH: Iron-Binding Proteins, MESH: Iron-Sulfur Proteins, MESH: Mitochondria, MESH: Oxidative Stress, MESH: Plasmids, MESH: Saccharomyces cerevisiae, [SDV.BC]Life Sciences [q-bio]/Cellular Biology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19460301; hal-00503012; https://hal.science/hal-00503012Test; PUBMED: 19460301

الإتاحة: https://doi.org/10.1016/j.mito.2009.01.007Test
https://hal.science/hal-00503012Test

المؤلفون: Masoumi, Ava, Heinemann, Ilka Ursula, Rohde, Manfred, Koch, Michael, Jahn, Martina, Jahn, Dieter

المساهمون: Institute of Microbiology, Technical University of Braunschweig, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 1350-0872.

مصطلحات موضوعية: MESH: Coproporphyrinogen Oxidase, MESH: Cyanobacteria, MESH: Protoporphyrins, MESH: Ferrochelatase, MESH: Heme, MESH: Immunohistochemistry, MESH: Immunoprecipitation, MESH: Microscopy, Electron, MESH: Models, Molecular, MESH: Multienzyme Complexes, MESH: Protoporphyrinogen Oxidase

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19047738; inserm-00384581; https://inserm.hal.science/inserm-00384581Test; PUBMED: 19047738

الإتاحة: https://doi.org/10.1099/mic.0.2008/018705-0Test
https://inserm.hal.science/inserm-00384581Test

المؤلفون: Alexandra Seguin, Anne-Laure Bulteau, Aurélien Bayot, Andrew Dancis, Adelina Rogowska-Wrzesinska, Emmanuel Lesuisse, Jean-Michel Camadro, Françoise Auchère

المساهمون: Institut Jacques Monod (IJM (UMR_7592)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Biologie et Biochimie cellulaire du Vieillissement, Université Paris Diderot - Paris 7 (UPD7), Department of Medicine, Division of Hematology-Oncology, University of Pennsylvania [Philadelphia], Protein Research Group, University of Southern Denmark (SDU)

المصدر: Mitochondrion
Mitochondrion, Elsevier, 2009, 9 (2), pp.130-8. ⟨10.1016/j.mito.2009.01.007⟩
Seguin, A, Bayot, A, Dancis, A, Rogowska-Wrzesinska, A, Auchère, F, Camadro, J-M, Bulteau, A-L & Lesuisse, E 2009, ' Overexpression of the yeast frataxin homolog (Yfh1): contrasting effects on iron-sulfur cluster assembly, heme synthesis and resistance to oxidative stress ', Mitochondrion, vol. 9, no. 2, pp. 130-138 . https://doi.org/10.1016/j.mito.2009.01.007Test

مصطلحات موضوعية: Iron-sulfur cluster assembly, Iron-Sulfur Proteins, Saccharomyces cerevisiae Proteins, MESH: Ferrochelatase, MESH: Mitochondria, Iron, Saccharomyces cerevisiae, Gene Dosage, Heme, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Mitochondrion, MESH: Gene Dosage, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, MESH: Saccharomyces cerevisiae Proteins, Stress, Physiological, MESH: Plasmids, Iron-Binding Proteins, MESH: Iron-Binding Proteins, MESH: Stress, Physiological, Molecular Biology, 030304 developmental biology, 0303 health sciences, MESH: Iron, MESH: Oxidative Stress, biology, Iron-binding proteins, Cell Biology, Ferrochelatase, MESH: Iron-Sulfur Proteins, biology.organism_classification, MESH: Saccharomyces cerevisiae, Mitochondria, Oxidative Stress, Biochemistry, chemistry, Mitochondrial matrix, MESH: Heme, Frataxin, biology.protein, Molecular Medicine, 030217 neurology & neurosurgery, Plasmids

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208bdd6b670de75fd6aec016e46014ceTest
https://hal.archives-ouvertes.fr/hal-00503012Test

المؤلفون: Hervé Puy, Mario Lecha, Jean-Charles Deybach

المساهمون: Department of Dermatology, Hospital Clinic-University of Barcelona, Centre Français des Porphyries, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche biomédicale Bichat-Beaujon (CRB3), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), BMC, Ed.

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2009, 4 (1), pp.19. ⟨10.1186/1750-1172-4-19⟩
Orphanet Journal of Rare Diseases, Vol 4, Iss 1, p 19 (2009)

مصطلحات موضوعية: Protoporphyria, Erythropoietic, MESH: Ferrochelatase, MESH: Protoporphyria, Erythropoietic, lcsh:Medicine, [SDV.GEN] Life Sciences [q-bio]/Genetics, Review, Chronic liver disease, 030207 dermatology & venereal diseases, 03 medical and health sciences, chemistry.chemical_compound, Liver disease, 0302 clinical medicine, medicine, Humans, Genetics(clinical), Pharmacology (medical), Photosensitivity Disorders, Genetics (clinical), 030304 developmental biology, Medicine(all), 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, MESH: Photosensitivity Disorders, biology, business.industry, lcsh:R, Autosomal dominant trait, General Medicine, Ferrochelatase, medicine.disease, 3. Good health, Porphyria, chemistry, Immunology, biology.protein, Hydroa vacciniforme, Protoporphyrin, Erythropoietic protoporphyria, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b91f51282b689766f53eb66a836b09cTest
https://www.hal.inserm.fr/inserm-00663934/file/1750-1172-4-19.pdfTest

المؤلفون: Gouya, Laurent, Martin-Schmitt, Caroline, Robreau, Anne-Marie, Austerlitz, Frederic, da Silva, Vasco, Brun, Patrick, Simonin, Sylvie, Lyoumi, Said, Grandchamp, Bernard, Beaumont, Carole, Puy, Herve, Deybach, Jean-Charles

المساهمون: Consultation Marfan, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bichat, Service de biochimie, d'hormonologie et de génétique moléculaire CHU Amrboise Paré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré AP-HP, Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Ecologie Systématique et Evolution (ESE), Ecole Nationale du Génie Rural, des Eaux et des Forêts (ENGREF)-Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Centre Français des Porphyries Hôpital Louis Mourier, Université Paris Diderot - Paris 7 (UPD7), Laboratoire de Biochimie Hormonale et Génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Ambroise Paré AP-HP

المصدر: ISSN: 0002-9297.

مصطلحات موضوعية: MESH: Base Sequence, MESH: DNA Mutational Analysis, MESH: Humans, MESH: Inheritance Patterns, MESH: Molecular Sequence Data, MESH: Phylogeny, MESH: Polymorphism, Single Nucleotide, MESH: Prevalence, MESH: Protoporphyria, Erythropoietic, MESH: Selection, Genetic, MESH: Sequence Analysis, DNA, MESH: Statistics, Nonparametric, MESH: Ethnic Groups, MESH: European Continental Ancestry Group, MESH: Ferrochelatase, MESH: France, MESH: Gene Components, MESH: Genetic Predisposition to Disease, MESH: Genetics, Population, MESH: Haplotypes, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16385445; hal-00531080; https://hal.science/hal-00531080Test; PUBMED: 16385445; PUBMEDCENTRAL: PMC1380220

الإتاحة: https://doi.org/10.1086/498620Test
https://hal.science/hal-00531080Test

المؤلفون: Ava Masoumi, Michael Koch, Martina Jahn, Manfred Rohde, Ilka U. Heinemann, Dieter Jahn

المساهمون: Peney, Maité, Institute of Microbiology, Technical University of Braunschweig, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Microbiology
Microbiology, 2008, 154 (Pt 12), pp.3707-14. ⟨10.1099/mic.0.2008/018705-0⟩

مصطلحات موضوعية: Models, Molecular, MESH: Protoporphyrins, MESH: Ferrochelatase, MESH: Protoporphyrinogen Oxidase, In silico, MESH: Coproporphyrinogen Oxidase, Protoporphyrins, MESH: Microscopy, Electron, Heme, MESH: Multienzyme Complexes, Cyanobacteria, Microbiology, chemistry.chemical_compound, Multienzyme Complexes, Immunoprecipitation, Protoporphyrinogen Oxidase, chemistry.chemical_classification, Coproporphyrinogen III oxidase, Protoporphyrin IX, biology, MESH: Immunoprecipitation, Coproporphyrinogen Oxidase, MESH: Immunohistochemistry, MESH: Cyanobacteria, Immunogold labelling, Ferrochelatase, Immunohistochemistry, Protoporphyrinogen IX, Microscopy, Electron, Enzyme, Biochemistry, chemistry, MESH: Heme, biology.protein, Protoporphyrinogen oxidase, MESH: Models, Molecular

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9681678baa5495b139cf221163ca7971Test
https://pubmed.ncbi.nlm.nih.gov/19047738Test

المؤلفون: Schoenfeld, Robert A, Napoli, Eleonora, Wong, Alice, Zhan, Shan, Reutenauer, Laurence, Morin, Dexter, Buckpitt, Alan R, Taroni, Franco, Lonnerdal, Bo, Ristow, Michael, Puccio, Hélène, Cortopassi, Gino A

المساهمون: Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I

المصدر: ISSN: 0964-6906.

مصطلحات موضوعية: MESH: Amino Acid Sequence, MESH: Animals, MESH: Mammals, MESH: Mice, Knockout, MESH: Mitochondria, MESH: Molecular Sequence Data, MESH: Mutation, MESH: Myocardium, MESH: Oligonucleotide Array Sequence Analysis, MESH: Proto-Oncogene Proteins, MESH: Protoporphyrins, MESH: Cells, Cultured, MESH: Sequence Homology, Amino Acid, MESH: Transcription, Genetic, MESH: Zinc, MESH: Coproporphyrinogen Oxidase, MESH: Cytochromes c, MESH: Ferrochelatase, MESH: Heart, MESH: Heme, MESH: Humans, MESH: Iron-Binding Proteins, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16239244; hal-00187745; https://hal.archives-ouvertes.fr/hal-00187745Test; PUBMED: 16239244

الإتاحة: https://doi.org/10.1093/hmg/ddi393Test
https://hal.archives-ouvertes.fr/hal-00187745Test

المؤلفون: Patrick Brun, Carole Beaumont, Bernard Grandchamp, Laurent Gouya, A. M. Robreau, Jean-Charles Deybach, Vasco Da Silva, Caroline Martin-Schmitt, Frédéric Austerlitz, Said Lyoumi, Hervé Puy, Sylvie Simonin

المساهمون: Consultation Marfan, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bichat, Service de biochimie, d'hormonologie et de génétique moléculaire [CHU Amrboise Paré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Ecologie Systématique et Evolution (ESE), Ecole Nationale du Génie Rural, des Eaux et des Forêts (ENGREF)-Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Centre Français des Porphyries Hôpital Louis Mourier, Université Paris Diderot - Paris 7 (UPD7), Laboratoire de Biochimie Hormonale et Génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Ambroise Paré [AP-HP]

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2006, 78 (1), pp.2-14. ⟨10.1086/498620⟩

مصطلحات موضوعية: MESH: Sequence Analysis, DNA, MESH: Selection, Genetic, DNA Mutational Analysis, Inheritance Patterns, MESH: Base Sequence, 030207 dermatology & venereal diseases, 0302 clinical medicine, Ethnicity, Prevalence, Genetics(clinical), MESH: DNA Mutational Analysis, MESH: Gene Components, MESH: Phylogeny, Phylogeny, Genetics (clinical), Genetics, MESH: Statistics, Nonparametric, 0303 health sciences, MESH: Polymorphism, Single Nucleotide, MESH: Genetic Predisposition to Disease, MESH: European Continental Ancestry Group, Articles, 3. Good health, Gene Components, symbols, MESH: Ethnic Groups, France, Erythropoietic protoporphyria, MESH: Ferrochelatase, Protoporphyria, Erythropoietic, MESH: Protoporphyria, Erythropoietic, Molecular Sequence Data, MESH: Genetics, Population, Single-nucleotide polymorphism, Biology, Southeast asian, Polymorphism, Single Nucleotide, Statistics, Nonparametric, White People, 03 medical and health sciences, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, Selection, Genetic, Allele, Allele frequency, MESH: Prevalence, 030304 developmental biology, MESH: Humans, MESH: Molecular Sequence Data, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Base Sequence, Haplotype, MESH: Haplotypes, Sequence Analysis, DNA, medicine.disease, MESH: France, Minor allele frequency, Genetics, Population, Haplotypes, Mendelian inheritance, MESH: Inheritance Patterns, Ferrochelatase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::caf2525322cdacb7f198464428286545Test