-
1
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 -
2
المؤلفون: Victor W. Hsu, Seung-Yeol Park, Tobias C. Walther, Raif S. Geha, Maria Tsokos, Sarah Beaussant-Cohen, Seth Rakoff-Nahoum, Wayne Bainter, Shafiq Ur Rehman Naseem, Craig D. Platt, Janet Chou, Zachary Peters, Michel J. Massaad, Jennifer Jones, Chitong Rao, Michel Becuwe, Jordan S. Orange, Faris Jaber, Salem Al-Tamemi, Sandra Andrea Salinas, Jacqueline G. Wallace, Jia-Shu Yang, Kelsey Stafstrom
المصدر: J Clin Invest
مصطلحات موضوعية: 0301 basic medicine, Cellular immunity, Receptors, Peptide, T-Lymphocytes, KDEL, Mutation, Missense, Golgi Apparatus, Apoptosis, Gene mutation, Endoplasmic Reticulum, Lymphocyte Activation, Coatomer Protein, Mice, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Animals, Humans, Defective T cell proliferation, B-Lymphocytes, Chemistry, Endoplasmic reticulum, General Medicine, COPI, Golgi apparatus, Endoplasmic Reticulum Stress, Mice, Mutant Strains, Cell biology, 030104 developmental biology, Amino Acid Substitution, 030220 oncology & carcinogenesis, Unfolded protein response, symbols, Severe Combined Immunodeficiency, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::299891811f4bf8261095c8b0e62c65adTest
https://doi.org/10.1172/jci140494Test -
3
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 -
4
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