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

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

المؤلفون: Raif S. Geha, Juan Manuel Leyva Castillo, Janet Chou, Fatma Dedeoglu, Jeff Goldsmith, Wayne Bainter, Yousef R. Badran, Athos Bousvaros, Toshiro K. Ohsumi

المصدر: The Journal of Experimental Medicine

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Programmed cell death, Stromal cell, Immunology, Haploinsufficiency, Caspase 8, 03 medical and health sciences, 0302 clinical medicine, Skin Ulcer, Immunology and Allergy, Medicine, Animals, Humans, Exome, Colitis, Oral Ulcer, Research Articles, Cells, Cultured, Genes, Dominant, Mice, Knockout, Base Sequence, business.industry, Tumor Necrosis Factor-alpha, Gene Expression Profiling, Dextran Sulfate, Brief Definitive Report, NF-kappa B, Transcription Factor RelA, Sequence Analysis, DNA, Fibroblasts, medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, Apoptosis, Chronic Disease, Cancer research, Tumor necrosis factor alpha, Female, business, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d84a9f625fb5a3d2085db5660f71633Test
http://europepmc.org/articles/PMC5502421Test

المؤلفون: Anant Vatsayan, Fedik Rahimov, Waleed Al-Herz, Colin A. Sieff, Mark D. Fleming, Basel K. al-Ramadi, E. Graham Davies, Michel J. Massaad, Martha Sola-Visner, Raif S. Geha, Narayanaswamy Ramesh, Haifa H. Jabara, Nancy C. Andrews, Wayne Bainter, Eli Silver, David Fraulino, Steven E. Boyden, Rand Arnaout, Salem H. Alshemmari, Sanjay P Ahuja, Louis M. Kunkel, Hasan Al-Dhekri, Mohammad Abu-Shukair, Zhi-Jian Liu, Janet Chou, Toshiro K. Ohsumi, Halli Benson, Luigi D. Notarangelo

المصدر: Nature Genetics. 48:74-78

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Lymphocyte, media_common.quotation_subject, Mutation, Missense, Cell Cycle Proteins, Transferrin receptor, Adaptive Immunity, Biology, Endocytosis, 03 medical and health sciences, Antigens, CD, Internal medicine, Receptors, Transferrin, Genetics, medicine, Animals, Humans, Missense mutation, Receptor, Internalization, Cells, Cultured, Immunodeficiency, media_common, Oncogene Proteins, chemistry.chemical_classification, B-Lymphocytes, Immunologic Deficiency Syndromes, Anemia, Fibroblasts, medicine.disease, Molecular biology, Mice, Mutant Strains, Pedigree, 3. Good health, Mice, Inbred C57BL, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, chemistry, Transferrin, Female, Oxidoreductases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::554a57ef01a1e625821aeae18c7a69a3Test
https://doi.org/10.1038/ng.3465Test

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

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