المؤلفون: Stafford, Che A, Gassauer, Alicia-Marie, Schwojer, Sophia J, Wiest, Andreas, Pfautsch, Marie K, Wurst, Wolfgang, Yabal, Monica, Fröhlich, Thomas, Mann, Matthias, Gisch, Nicolas, Jae, Lucas T, Hornung, Veit, de Oliveira Mann, Carina C, Tanzer, Maria C, Fessler, Evelyn, Wefers, Benedikt, Nagl, Dennis, Kuut, Gunnar, Sulek, Karolina, Vasilopoulou, Catherine

المصدر: Nature 609(7927), 590 - 596 (2022). doi:10.1038/s41586-022-05125-x

مصطلحات موضوعية: info:eu-repo/classification/ddc/500, Acetylmuramyl-Alanyl-Isoglutamine: chemistry, Acetylmuramyl-Alanyl-Isoglutamine: immunology, Acetylmuramyl-Alanyl-Isoglutamine: metabolism, Acetylmuramyl-Alanyl-Isoglutamine: pharmacology, Animals, Bacteria: chemistry, Bacteria: immunology, Cell Wall: chemistry, Hexosamines: biosynthesis, Immunity, Innate, Macrophages: enzymology, Macrophages: immunology, Mice, Nod2 Signaling Adaptor Protein: agonists, Nod2 Signaling Adaptor Protein: metabolism, Peptidoglycan: chemistry, Peptidoglycan: immunology, Phosphorylation, Phosphotransferases (Alcohol Group Acceptor): deficiency, Phosphotransferases (Alcohol Group Acceptor): genetics, Phosphotransferases (Alcohol Group Acceptor): metabolism

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/0028-0836; info:eu-repo/semantics/altIdentifier/pmid/pmid:36002575; info:eu-repo/semantics/altIdentifier/issn/1476-4687; https://pub.dzne.de/record/165135Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01440%22Test

الإتاحة: https://doi.org/10.1038/s41586-022-05125-xTest
https://pub.dzne.de/record/165135Test
https://pub.dzne.de/search?p=id:%22DZNE-2022-01440%22Test

المؤلفون: Blechner, Christine, Becker, Lore, Conrad, Susanne, Hölter, Sabine M., Wolf, Eckhard, Klopstock, Thomas, Adamski, Jerzy, Busch, Dirk, de Angelis, Martin Hrabe, Schmeisser, Michael J., Windhorst, Sabine, Fuchs, Helmut, Rathkolb, Birgit, Prehn, Cornelia, Adler, Thure, Calzada-Wack, Julia, Garrett, Lillian, Gailus-Durner, Valerie, Morellini, Fabio

المصدر: Neuroscience letters 735, 135206 - (2020). doi:10.1016/j.neulet.2020.135206

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Animals, Caco-2 Cells, Female, Humans, Isoenzymes: deficiency, Isoenzymes: genetics, Male, Mice, Knockout, Neurons: enzymology, Phosphotransferases (Alcohol Group Acceptor): deficiency, Phosphotransferases (Alcohol Group Acceptor): genetics, Prepulse Inhibition: physiology

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:32593773; info:eu-repo/semantics/altIdentifier/issn/1872-7972; info:eu-repo/semantics/altIdentifier/issn/0304-3940; https://pub.dzne.de/record/153456Test; https://pub.dzne.de/search?p=id:%22DZNE-2020-01453%22Test

الإتاحة: https://doi.org/10.1016/j.neulet.2020.135206Test
https://pub.dzne.de/record/153456Test
https://pub.dzne.de/search?p=id:%22DZNE-2020-01453%22Test

المؤلفون: Mayr, J.A., Haack, T.B., Graf, E., Zimmermann, F.A., Wieland, T., Haberberger, B., Superti-Furga, A., Kirschner, J., Steinmann, B., Baumgartner, M.R., Moroni, I., Lamantea, E., Zeviani, M., Rodenburg, R.J., Smeitink, J., Strom, T.M., Meitinger, T., Sperl, W., Prokisch, H.

المصدر: American Journal of Human Genetics, vol. 90, no. 2, pp. 314-320

مصطلحات موضوعية: Adult, Alleles, Cardiomyopathies/enzymology, Cardiomyopathies/genetics, Cataract/enzymology, Cataract/genetics, Child, Codon, Nonsense, Exome, Female, Heterozygote, Humans, Infant, Newborn, Male, Mitochondria/enzymology, Mitochondria/genetics, Mitochondrial ADP, ATP Translocases/genetics, Mitochondrial Proteins/deficiency, Mitochondrial Proteins/genetics, Muscles/metabolism, Phenotype, Phospholipids/metabolism, Phosphotransferases (Alcohol Group Acceptor)/deficiency, Phosphotransferases (Alcohol Group Acceptor)/genetics, Young Adult

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22284826; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; https://serval.unil.ch/notice/serval:BIB_8EF3EE6678B4Test; urn:issn:0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2011.12.005Test
https://serval.unil.ch/notice/serval:BIB_8EF3EE6678B4Test

المؤلفون: Jia, Yonghui, Schurmans, Stéphane, Luo, Hongbo R

المصدر: Cell cycle (Georgetown, Tex.), 7 (18

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Animals, Bacteria -- cytology, Cell Death, Immunity, Innate, Inositol Phosphates -- metabolism, Mice, Myelopoiesis, Neutrophils -- cytology, Neutrophils -- enzymology, Neutrophils -- microbiology, Phosphotransferases (Alcohol Group Acceptor) -- deficiency, Phosphotransferases (Alcohol Group Acceptor) -- metabolism

وصف الملف: No full-text files

العلاقة: uri/info:pii/6688; uri/info:pmid/18769148; uri/info:scp/51849134586; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/55045Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/55045Test

المؤلفون: Jia, Yonghui, Loison, Fabien, Hattori, Hidenori, Li, Yitang, Erneux, Christophe, Park, Shin-Young, Gao, Chong, Chai, Li, Silberstein, Leslie E, Schurmans, Stéphane, Luo, Hongbo R

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 105 (12

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Animals, Apoptosis, Blood Cell Count, Cell Differentiation, Cell Division, Cell Proliferation, Gene Deletion, Inositol 1,4,5-Trisphosphate -- metabolism, Mice, Knockout, Myeloid Progenitor Cells -- cytology, Myeloid Progenitor Cells -- enzymology, Myelopoiesis -- physiology, Neutrophils -- cytology, Neutrophils -- enzymology, Phosphotransferases (Alcohol Group Acceptor) -- deficiency, Phosphotransferases (Alcohol Group Acceptor) -- metabolism, Signal Transduction, Hematopoiesis, Inositol phosphate, Neutrophils

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1073/pnas.0800218105; uri/info:pii/0800218105; uri/info:pmid/18339802; uri/info:scp/42449122333; uri/info:pmcid/PMC2290809; https://dipot.ulb.ac.be/dspace/bitstream/2013/52115/4/PMC2290809.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/52115Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/52115Test
https://dipot.ulb.ac.be/dspace/bitstream/2013/52115/4/PMC2290809.pdfTest

المؤلفون: Marechal, Yoann, Pesesse, Xavier, Jia, Yonghui, Pouillon, Valérie, Perez-Morga, David, Daniel, Julien, Izui, Shozo, Cullen, Peter J, Leo, Oberdan, Luo, Hongbo R, Erneux, Christophe, Schurmans, Stéphane

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 104 (35

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Animals, Apoptosis, Apoptosis Regulatory Proteins -- deficiency, Apoptosis Regulatory Proteins -- genetics, B-Lymphocyte Subsets -- cytology, B-Lymphocyte Subsets -- immunology, B-Lymphocyte Subsets -- physiology, B-Lymphocytes -- cytology, B-Lymphocytes -- immunology, B-Lymphocytes -- physiology, Bone Marrow -- immunology, Cell Survival, Gene Expression Regulation, Immunoglobulin D -- analysis, Immunoglobulin M -- analysis, Inositol Phosphates -- pharmacology, Membrane Proteins -- deficiency, Membrane Proteins -- genetics, Mice, Knockout, Phosphotransferases (Alcohol Group Acceptor) -- deficiency, Phosphotransferases (Alcohol Group Acceptor) -- genetics, Proto-Oncogene Proteins -- deficiency, Proto-Oncogene Proteins -- genetics, Reverse Transcriptase Polymerase Chain Reaction, Spleen -- immunology, Inositol phosphate, Lymphocyte, Rasa3

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1073/pnas.0704312104; uri/info:pii/0704312104; uri/info:pmid/17709751; uri/info:scp/34548745426; uri/info:pmcid/PMC1955816; https://dipot.ulb.ac.be/dspace/bitstream/2013/50812/4/PMC1955816.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/50812Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/50812Test
https://dipot.ulb.ac.be/dspace/bitstream/2013/50812/4/PMC1955816.pdfTest

المؤلفون: Peter J. Cullen, Yoann Maréchal, Valérie Pouillon, Christophe Erneux, Hongbo R. Luo, Yonghui Jia, Shozo Izui, Xavier Pesesse, Julien Daniel, David Perez-Morga, Stéphane Schurmans, Oberdan Leo

المصدر: Proceedings of the National Academy of Sciences, Vol. 104, No 35 (2007) pp. 13978-13983

مصطلحات موضوعية: Spleen/immunology, Phosphotransferases (Alcohol Group Acceptor)/deficiency/*genetics, Cell Survival, Inositol Phosphates, B-Lymphocyte Subsets, Apoptosis, Inositol Phosphates/*pharmacology, Biology, ddc:616.07, B-Lymphocyte Subsets/cytology/immunology/physiology, Immunoglobulin M/analysis, Membrane Proteins/deficiency/*genetics, chemistry.chemical_compound, Mice, Immunoglobulin D/analysis, Bone Marrow, Proto-Oncogene Proteins, Bone Marrow/immunology, Gene expression, medicine, Animals, Inositol, Receptor, Inositol phosphate, B cell, chemistry.chemical_classification, Mice, Knockout, B-Lymphocytes, Multidisciplinary, Bcl-2-Like Protein 11, Reverse Transcriptase Polymerase Chain Reaction, Membrane Proteins, Immunoglobulin D, Biological Sciences, Cell biology, Phosphotransferases (Alcohol Group Acceptor), medicine.anatomical_structure, B-Lymphocytes/*cytology/immunology/*physiology, Immunoglobulin M, chemistry, Gene Expression Regulation, Immunology, Apoptosis Regulatory Proteins/deficiency/*genetics, Phosphorylation, Signal transduction, Apoptosis Regulatory Proteins, Proto-Oncogene Proteins/deficiency/*genetics, Spleen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28f71d79b46dd4034f6ab88e39cdc9c1Test
https://archive-ouverte.unige.ch/unige:11441Test

المؤلفون: Santos, M M, Ohshima, K, Pandolfo, Massimo

المصدر: Human molecular genetics, 10 (18

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Acetylcysteine -- pharmacology, Animals, Apoptosis -- drug effects, Apoptosis -- genetics, Cell Differentiation -- drug effects, Cell Differentiation -- genetics, Cell Division -- drug effects, Cell Division -- genetics, DNA Fragmentation -- drug effects, DNA, Antisense -- genetics, Ectoderm -- cytology, Ectoderm -- drug effects, Ectoderm -- metabolism, Free Radical Scavengers -- pharmacology, Iron-Binding Proteins, Microtubule-Associated Proteins -- metabolism, Myocardium -- cytology, Myocardium -- metabolism, Nervous System -- cytology, Nervous System -- drug effects, Nervous System -- embryology, Phosphotransferases (Alcohol Group Acceptor) -- deficiency, Phosphotransferases (Alcohol Group Acceptor) -- genetics, Phosphotransferases (Alcohol Group Acceptor) -- metabolism, Reactive Oxygen Species -- metabolism, Superoxide Dismutase -- pharmacology, Time Factors, Transfection

وصف الملف: No full-text files

العلاقة: uri/info:pmid/11555630; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51361Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51361Test

المؤلفون: Pandolfo, Massimo

المصدر: Neurología, 15 (8

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Alleles, Animals, Chromosomes, Human, Pair 9 -- genetics, Ethnic Groups -- genetics, Evolution, Molecular, Female, Friedreich Ataxia -- genetics, Gene Expression, Gene Frequency, Genes, Recessive, Genomic Imprinting, Humans, Introns -- genetics, Iron-Binding Proteins, Male, Minisatellite Repeats, Mutation, Missense, Organ Specificity, Phosphotransferases (Alcohol Group Acceptor) -- chemistry, Phosphotransferases (Alcohol Group Acceptor) -- deficiency, Phosphotransferases (Alcohol Group Acceptor) -- genetics, Phosphotransferases (Alcohol Group Acceptor) -- physiology, Saccharomyces cerevisiae -- genetics, Species Specificity

وصف الملف: No full-text files

العلاقة: uri/info:pmid/11143498; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51499Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/51499Test

المؤلفون: Ohshima, K, Montermini, L, Wells, R D, Pandolfo, Massimo

المصدر: The Journal of biological chemistry, 273 (23

مصطلحات موضوعية: Sciences bio-médicales et agricoles, Animals, COS Cells, Cloning, Molecular, DNA Replication -- genetics, Friedreich Ataxia -- genetics, Gene Expression Regulation -- genetics, Genes, Reporter -- genetics, Humans, Iron-Binding Proteins, Nucleic Acid Conformation, Phosphotransferases (Alcohol Group Acceptor) -- deficiency, Phosphotransferases (Alcohol Group Acceptor) -- genetics, Plasmids -- genetics, RNA, Messenger -- metabolism, Transcription, Genetic -- genetics, Transfection -- genetics, Trinucleotide Repeats -- genetics

وصف الملف: No full-text files

العلاقة: uri/info:pmid/9603975; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/58619Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/58619Test