المؤلفون: Minnie Jacob, Afshan Masood, Anas M. Abdel Rahman

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 3; Pages: 2406

مصطلحات موضوعية: signal transducer and activator of transcription 3 (STAT3), phosphoglucomutase 3 (PGM3), dedicator of cytokinesis 8 (DOCK8), hyper IgE syndromes (HIES), multi-omics, metabolomics, proteomics, cytokines profiling

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Immunology; https://dx.doi.org/10.3390/ijms24032406Test

الإتاحة: https://doi.org/10.3390/ijms24032406Test

المؤلفون: Sassi, Atfa, Lazaroski, Sandra, Wu, Gang, Haslam, Stuart M, Fliegauf, Manfred, Mellouli, Fethi, Patiroglu, Turkan, Unal, Ekrem, Ozdemir, Mehmet Akif, Jouhadi, Zineb, Khadir, Khadija, Ben-Khemis, Leila, Ben-Ali, Meriem, Ben-Mustapha, Imen, Borchani, Lamia, Pfeifer, Dietmar, Jakob, Thilo, Khemiri, Monia, Asplund, A Charlotta, Gustafsson, Manuela O, Lundin, Karin E, Falk-Sörqvist, Elin, Moens, Lotte N, Gungor, Hatice Eke, Engelhardt, Karin R, Dziadzio, Magdalena, Stauss, Hans, Fleckenstein, Bernhard, Meier, Rebecca, Prayitno, Khairunnadiya, Maul-Pavicic, Andrea, Schaffer, Sandra, Rakhmanov, Mirzokhid, Henneke, Philipp, Kraus, Helene, Eibel, Hermann, Kölsch, Uwe, Nadifi, Sellama, Nilsson, Mats, Bejaoui, Mohamed, Schäffer, Alejandro A, Smith, CI Edvard, Dell, Anne, Barbouche, Mohamed-Ridha, Grimbacher, Bodo

المصدر: Journal of Allergy and Clinical Immunology. 133(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Clinical Research, Genetics, Rare Diseases, Emerging Infectious Diseases, Aetiology, 2.1 Biological and endogenous factors, Adult, Amino Acid Substitution, Cell Proliferation, Child, Chromosomes, Human, Pair 6, Female, Genetic Diseases, Inborn, Genetic Linkage, Glycosylation, Homozygote, Humans, Immunity, Immunoglobulin E, Infant, Job Syndrome, Male, Mutation, Missense, Phosphoglucomutase, T-Lymphocytes, Tunisia, Hyper-IgE syndrome, glycosylation, Staphylococcus aureus, signal transducer and activator of transcription 3, dedicator of cytokinesis 8, phosphoglucomutase 3, Allergy

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7525r0rfTest

المؤلفون: Karin E. Lundin, Qing Wang, Abdulrahman Hamasy, Per Marits, Mehmet Uzunel, Valtteri Wirta, Ann-Charlotte Wikström, Anders Fasth, Olov Ekwall, C.I. Edvard Smith

المصدر: BMC Pediatrics, Vol 18, Iss 1, Pp 1-8 (2018)

مصطلحات موضوعية: Congenital disorder of glycosylation, Hyper-IgE, N-acetylglucosamine-phosphate mutase, PGM3 enzyme activity, Phosphoglucomutase 3, Primary immunodeficiency, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12887-018-1258-9Test; https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/a6e1df9a6703422893cc377f144f1b9dTest

المؤلفون: Fusaro, Mathieu, Vincent, Aline, Castelle, Martin, Rosain, Jérémie, Fournier, Benjamin, Veiga da Cunha, Maria, Kentache, Takfarinas, Serre, Jill, Fallet-Bianco, Catherine, Delezoide, Anne-Lise, Renesme, Laurent, Picard, Fanny Morice, Lasseaux, Eulalie, Aladjidi, Nathalie, Seta, Nathalie, Cormier-Daire, Valérie, Van Schaftingen, Emile, Neven, Bénédicte, Moshous, Despina, Blesson, Sophie, Picard, Capucine

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: Journal of clinical immunology, Vol. 41, no. 5, p. 958-966 (2021)

مصطلحات موضوعية: Congenital disorders of glycosylation, N-Acetylphosphoglucosamine, PGM3, Phosphoglucomutase 3, Primary immunodeficiency, Severe combined immunodeficiency, Skeletal dysplasia

العلاقة: boreal:248769; http://hdl.handle.net/2078.1/248769Test; info:pmid/33534079; urn:ISSN:1573-2592; urn:EISSN:1573-2592

الإتاحة: https://doi.org/10.1007/s10875-021-00985-wTest
http://hdl.handle.net/2078.1/248769Test

المؤلفون: Maria Veiga-da-Cunha, Aline Vincent, Jérémie Rosain, Martin Castelle, Jill Serre, Laurent Renesme, Valérie Cormier-Daire, Takfarinas Kentache, Benjamin Fournier, Sophie Blesson, Nathalie Aladjidi, Despina Moshous, Mathieu Fusaro, Eulalie Lasseaux, Capucine Picard, Fanny Morice Picard, Nathalie Seta, Bénédicte Neven, Anne-Lise Delezoide, Catherine Fallet-Bianco, Emile Van Schaftingen

المساهمون: UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: Journal of clinical immunology, Vol. 41, no. 5, p. 958-966 (2021)

مصطلحات موضوعية: Male, 0301 basic medicine, Immunology, Limb Deformities, Congenital, macromolecular substances, Disease, Virus, N-Acetylphosphoglucosamine, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Immunology and Allergy, Missense mutation, Congenital disorders of glycosylation, Abnormalities, Multiple, Bone Diseases, Developmental, Severe combined immunodeficiency, Primary immunodeficiency, business.industry, Infant, Newborn, Infant, Phosphoglucomutase 3, medicine.disease, PGM3, 030104 developmental biology, Phosphoglucomutase, Dysplasia, Child, Preschool, Face, Skeletal dysplasia, Female, Severe Combined Immunodeficiency, Nervous System Diseases, business, Congenital disorder of glycosylation, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a4ecf4b4daa146cf3e124405a3d3fefTest
https://doi.org/10.1007/s10875-021-00985-wTest

المؤلفون: Wu, Gang, Hitchen, Paul G., Panico, Maria, North, Simon J., Barbouche, Mohamed-Ridha, Binet, Daniel, Morris, Howard R., Dell, Anne, Haslam, Stuart M.

المصدر: Wu , G , Hitchen , P G , Panico , M , North , S J , Barbouche , M-R , Binet , D , Morris , H R , Dell , A & Haslam , S M 2016 , ' Glycoproteomic studies of IgE from a novel hyper IgE syndrome linked to PGM3 mutation ' , Glycoconjugate Journal , vol. 33 , no. 3 , pp. 447-456 . https://doi.org/10.1007/s10719-015-9638-yTest

مصطلحات موضوعية: Glycoproteomics, Hyper IgE Syndrome, IgE, Phosphoglucomutase 3, /dk/atira/pure/subjectarea/asjc/1300/1303, name=Biochemistry, /dk/atira/pure/subjectarea/asjc/1300/1307, name=Cell Biology, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/fbba3c51-0cfd-4584-9460-9a60b4b13963Test

الإتاحة: https://doi.org/10.1007/s10719-015-9638-yTest
https://discovery.dundee.ac.uk/en/publications/fbba3c51-0cfd-4584-9460-9a60b4b13963Test
https://discovery.dundee.ac.uk/ws/files/8947939/Proteomic_studies.pdfTest

المؤلفون: Wu, G, Hitchen, PG, Panico, M, North, SJ, Barbouche, MR, Binet, D, Morris, HR, Dell, A, Haslam, SM

المساهمون: Biotechnology and Biological Sciences Research Council (BBSRC)

المصدر: 456 ; 447

مصطلحات موضوعية: Glycoproteomics, Hyper IgE Syndrome, IgE, Phosphoglucomutase 3, Biochemistry & Molecular Biology, Biochemistry And Cell Biology, Medical Microbiology, Neurosciences

العلاقة: Glycoconjugate Journal; http://hdl.handle.net/10044/1/31886Test; http://dx.doi.org/10.1007/s10719-015-9638-yTest; BB/F008309/1; BB/K016164/1

الإتاحة: https://doi.org/10.1007/s10719-015-9638-yTest
http://hdl.handle.net/10044/1/31886Test

المؤلفون: Abdulrahman Hamasy, Olov Ekwall, Qing Wang, C. I. Edvard Smith, Valtteri Wirta, Ann-Charlotte Wikström, Mehmet Uzunel, Karin E. Lundin, Anders Fasth, Per Marits

المصدر: BMC Pediatrics, Vol 18, Iss 1, Pp 1-8 (2018)
BMC Pediatrics

مصطلحات موضوعية: 0301 basic medicine, T cell, PGM3 enzyme activity, Case Report, medicine.disease_cause, Hyper-IgE, 03 medical and health sciences, Exon, 0302 clinical medicine, Fatal Outcome, Medicine, Missense mutation, Humans, RNA, Messenger, Immunodeficiency, N-acetylglucosamine-phosphate mutase, Mutation, Splice site mutation, Primary immunodeficiency, business.industry, Homozygote, Immunologic Deficiency Syndromes, lcsh:RJ1-570, Congenital disorder of glycosylation, lcsh:Pediatrics, Phosphoglucomutase 3, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Phosphoglucomutase, Child, Preschool, Pediatrics, Perinatology and Child Health, Cancer research, Female, RNA Splice Sites, Splice-modifying mutation, business, 030217 neurology & neurosurgery, CD8

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebe32c39baa5a5d2a145be4ee0aa132cTest
http://link.springer.com/article/10.1186/s12887-018-1258-9Test

المؤلفون: Pious, Donald, Hawley, Pamela, Forrest, Gary

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 1973 May 01. 70(5), 1397-1400.

الوصول الحر: https://www.jstor.org/stable/62128Test

المؤلفون: Lundin, Karin E., Wang, Qing, Hamasy, Abdulrahman, Marits, Per, Uzunel, Mehmet, Wirta, Valtteri, Wikstrom, Ann-Charlotte, Fasth, Anders, Ekwall, Olov, Smith, C. I. Edvard

المصدر: BMC Pediatrics. 18

مصطلحات موضوعية: Congenital disorder of glycosylation, Hyper-IgE, N-acetylglucosamine-phosphate mutase, PGM3 enzyme activity, Phosphoglucomutase 3, Primary immunodeficiency, Splice-modifying mutation

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-234589Test