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المؤلفون: Raif S. Geha, Stefano Maio, Wayne Bainter, Jeff Goldsmith, Erin Janssen, Silvia Parolini, Janet Chou, Yousef R. Badran, Manuela Baronio, Christy Kam, Hazel Wilkie, Paolo Incardona, Abdallah Beano, Georg A. Holländer, Vassilios Lougaris, Mrinmoy Das, Rodrigo Hoyos-Bachiloglu, Birgitta Schmidt, Phammela Abarzua, Alessandro Plebani, Maria Pia Bondioni, Zachary Peters, Giovanna Tabellini, Jacqueline G. Wallace, Antonella Meini, Luisa Bercich, Vincenzo Villanacci, George F. Murphy, Khaoula Ben Farhat
المصدر: Sci Immunol
مصطلحات موضوعية: genetic structures, Immunology, Mutation, Missense, Alpha (ethology), Autoimmunity, Mice, Transgenic, medicine.disease_cause, Complement factor B, Nuclear factor kappa b, Article, Mice, parasitic diseases, medicine, Missense mutation, Animals, Humans, Immunodeficiency, Kinase, Chemistry, General Medicine, medicine.disease, I-kappa B Kinase, Mice, Inbred C57BL, HEK293 Cells, Cancer research, Phosphorylation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e44723c58581bfe1ab739559710838beTest
https://pubmed.ncbi.nlm.nih.gov/34533979Test -
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المؤلفون: Lewis C. Cantley, Raif S. Geha, Wayne Bainter, Jennifer Jones, Farah Naz Qamar, Janet Chou, Jacqueline G. Wallace, Jared L. Johnson, Jenny C.Y. Wong, Sonia Qureshi, Ting-Yu Lin, Sarah Beaussant Cohen, Fatima Mir
مصطلحات موضوعية: Immunology, Mutant, Biology, medicine.disease, Acquired immune system, Article, Cell biology, P110δ, Primary immunodeficiency, medicine, Immunology and Allergy, A kinase, Signal transduction, Function (biology), Immunodeficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::329df91d56f611cefcd74962fcb9f5b5Test
https://europepmc.org/articles/PMC6387453Test/ -
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المؤلفون: Peter A. Nigrovic, Kelsey Stafstrom, Paul A. Brogan, Carla Irani, Pui Y. Lee, Christa Krupski, Janet Chou, Rasha El-Owaidy, Craig D. Platt, Sara Sebnem Kilic, Irit Tirosh, Eugene P. Chambers, Tali Stauber, Raif S. Geha, Raju Khubchandani, Zeina Baz, Z. Huang, M.R. Lokeshwar, Mohammed F. Alosaimi, Despina Eleftheriou, Wayne Bainter, Pallavi Pimpale, Michael B. Jordan, Ali Sobh, Erinn S. Kellner, Qing Zhou, Aaron R. Weiss, Somech Raz, Gérard Lefranc, Yuelong Huang, Elissa Furutani
المصدر: J Allergy Clin Immunol
مصطلحات موضوعية: Male, Vasculitis, Adenosine Deaminase 2 Deficiency, Genotype, Adenosine Deaminase, Immunology, Hepatosplenomegaly, Pure red cell aplasia, Red-Cell Aplasia, Pure, Article, medicine, Humans, Immunology and Allergy, Missense mutation, Child, business.industry, Bone marrow failure, Infant, Bone Marrow Failure Disorders, medicine.disease, Phenotype, Hematologic disease, Child, Preschool, Mutation, Intercellular Signaling Peptides and Proteins, Female, medicine.symptom, business, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8081d2779c10ab62d9333a1daf07253Test
https://doi.org/10.1016/j.jaci.2019.12.908Test -
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المؤلفون: Yousef R. Badran, Janet Chou, Craig D. Platt, Patrick R. Houlihan, Lalit Kumar, Raif S. Geha, Carlos J. Perez, Wayne Bainter, Fernando Benavides, P. Luigi Poliani, Sharon Y.R. Dent, David E. Clapham
المصدر: Journal of Allergy and Clinical Immunology. 140:1651-1659.e1
مصطلحات موضوعية: 0301 basic medicine, T-Lymphocytes, T cell, Anion Transport Proteins, Immunology, Mutant, Biology, Leucine-rich repeat, Lymphocyte Activation, medicine.disease_cause, Antibodies, Article, Frameshift mutation, Mice, 03 medical and health sciences, 0302 clinical medicine, Agammaglobulinemia, medicine, Animals, Humans, Immunology and Allergy, Cells, Cultured, Leucine-rich repeat containing 8A, Thymocyte development, Cell Proliferation, Cell Size, Sequence Deletion, Mice, Knockout, Volume-regulated anion channel, B-Lymphocytes, Mutation, Ion Transport, Wild type, Membrane Proteins, Cell Differentiation, Anion channel activity, Molecular biology, Mice, Mutant Strains, 030104 developmental biology, medicine.anatomical_structure, Biochemistry, Cytokine secretion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7d2f270ece30696f4340739d1d8e743Test
https://doi.org/10.1016/j.jaci.2016.12.974Test -
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المؤلفون: Yousef R. Badran, Janet Chou, Sung-Yun Pai, Toshiro K. Ohsumi, Raif S. Geha, Wayne Bainter, Suleiman Al-Hammadi, Christina S.K. Yee, Stefan Feske
مصطلحات موضوعية: ORAI1, business.industry, T cell, Immunology, Residual, medicine.disease, Article, Text mining, medicine.anatomical_structure, Cancer research, medicine, Immunology and Allergy, business, Novel mutation, Function (biology), Immunodeficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd98adb7849ed76f09c76072da9eae21Test
https://europepmc.org/articles/PMC4530045Test/ -
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المؤلفون: Nurten A. Akarsu, Ilhan Tezcan, Raif S. Geha, Wayne Bainter, Michel J. Massaad, Niko Föger, Caner Aytekin, Andrew C. Chan, Christina S.K. Yee, Toshiro K. Ohsumi, Deniz Cagdas Ayvaz, Janet Chou, Ozden Sanal
المصدر: Journal of Allergy and Clinical Immunology. 137:879-888.e2
مصطلحات موضوعية: CD4-Positive T-Lymphocytes, Male, 0301 basic medicine, Adolescent, Cell Survival, DNA Mutational Analysis, Immunology, Immunoglobulins, Lymphocyte proliferation, Biology, medicine.disease_cause, Skin Diseases, Filamentous actin, Cell Degranulation, Article, Frameshift mutation, Mice, 03 medical and health sciences, T-Lymphocyte Subsets, Lymphopenia, medicine, Animals, Humans, Immunology and Allergy, Lymphocyte Count, Frameshift Mutation, Cytoskeleton, Immunodeficiency, Severe combined immunodeficiency, Mutation, Siblings, Homozygote, Microfilament Proteins, medicine.disease, Actins, Pedigree, Protein Transport, Phenotype, 030104 developmental biology, Virus Diseases, biology.protein, Primary immunodeficiency, Female, Protein Multimerization, Warts, Antibody, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::753f871d2d27725e1b12faceda1ceefcTest
https://doi.org/10.1016/j.jaci.2015.08.020Test