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Annals of the New York Academy of Sciences, ISSN 0077-8923, 12/2011, Volume 1246, Issue 1, pp. 102 - 107
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 11/2009, Volume 361, Issue 21, pp. 2033 - 2045
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 4, pp. 1112 - 1119
Background Myb-like, SWIRM, and MPN domains 1 (MYSM1) is a transcriptional regulator mediating histone deubiquitination. Its role in human immunity and... 
Allergy and Immunology | stem cells | hematopoiesis | rare disease | Immunodeficiency | transplantation | P53 PROTEIN | PHOSPHORYLATION | DOUBLE-STRAND BREAKS | IMMUNOLOGY | LYMPHOCYTE DIFFERENTIATION | REFERENCE VALUES | UV-RADIATION | ALLERGY | STEM-CELL MAINTENANCE | EPIGENETIC REGULATION | HISTONE H2A DEUBIQUITINASE | Genome-Wide Association Study | Humans | Cells, Cultured | Hematopoietic Stem Cell Transplantation | Genotype | DNA Damage - immunology | DNA Repair - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | DNA-Binding Proteins - metabolism | Transcription Factors - metabolism | Ubiquitination | Hematopoiesis | Pedigree | Bone Marrow Diseases - immunology | Developmental Disabilities - immunology | Consanguinity | p38 Mitogen-Activated Protein Kinases - metabolism | Histones - metabolism | Immunologic Deficiency Syndromes - immunology | Sequence Deletion - genetics | Monoclonal antibodies | Codon | Analysis | Genomics | Transplantation | B cells | Nucleotide sequencing | Hematopoietic stem cells | Risk factors | DNA sequencing | Cataracts | Reactive oxygen species | Phosphorylation | p38 Protein | Transplants & implants | Transcription | Nonsense mutation | DNA damage | Genotoxicity | Stem cell transplantation | Genomes | Cognition | Kinases | Homozygosity | Phosphatase | Immunity | Blood | Gene sequencing | Proteins | Penicillin | Bone marrow | Deoxyribonucleic acid--DNA | Siblings | Stresses | Cell survival | U.V. radiation | Anemia | Stop codon | Patients | Survival | Stress | Hemopoiesis | Studies | Ultraviolet radiation | Lymphocytes B | Biopsy | Stem cells | Epigenetics | Bone | Mutation | Aberration | Leukocytes (granulocytic) | Gene mapping | Apoptosis
Journal Article
Blood, ISSN 0006-4971, 11/2018, Volume 132, Issue Supplement 1, pp. 1122 - 1122
Abstract Human LAMTOR2 deficiency is characterized by severe congenital neutropenia, growth failure, partial albinism, as well as B and T cell deficiencies... 
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2018, Volume 50, Issue 3, pp. 344 - 348
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2018, Volume 50, Issue 3, p. 344
Transforming growth factor (TGF)-[beta]1 (encoded by TGFB1) is the prototypic member of the TGF-[beta] family of 33 proteins that orchestrate embryogenesis,... 
Inflammatory bowel diseases | Encephalopathy | Central nervous system | Research | Transforming growth factors | Health aspects | Risk factors
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 01/2019, Volume 116, Issue 3, pp. 970 - 975
Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a critical regulator of cell death and inflammation, but its relevance for human disease... 
Rare diseases | Inflammatory bowel diseases | Primary immunodeficiency | rare diseases | APOPTOSIS | HOMEOSTASIS | NECROPTOSIS | inflammatory bowel diseases | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME | MULTIDISCIPLINARY SCIENCES | KINASE | primary immunodeficiency | DEATH | MUTATIONS | Humans | Inflammatory Bowel Diseases - immunology | NF-kappa B - immunology | Male | Cell Differentiation - genetics | Intestinal Mucosa - immunology | Inflammatory Bowel Diseases - pathology | HEK293 Cells | Inflammatory Bowel Diseases - genetics | Female | B-Lymphocytes - pathology | Severe Combined Immunodeficiency - pathology | T-Lymphocytes - pathology | Receptor-Interacting Protein Serine-Threonine Kinases - immunology | Immunity, Mucosal - genetics | HCT116 Cells | Epithelial Cells - pathology | Severe Combined Immunodeficiency - immunology | Cell Differentiation - immunology | Severe Combined Immunodeficiency - genetics | B-Lymphocytes - immunology | NF-kappa B - genetics | Epithelial Cells - immunology | T-Lymphocytes - immunology | Receptor-Interacting Protein Serine-Threonine Kinases - deficiency | Mutation | Intestinal Mucosa - pathology | Deficiency diseases | Complications and side effects | Threonine | Immunodeficiency | Causes of | Physiological aspects | Genetic aspects | Protein kinases | Tumor necrosis factor receptors | Enzymes | NF-κB protein | Pathogenesis | Epithelial cells | Homeostasis | Kinases | Patients | Inflammatory bowel disease | Proteins | Lymphocytes B | Intestine | Cell death | Protein kinase | Immune system | Life Sciences | Immunology | Biological Sciences
Journal Article
Frontiers in Immunology, ISSN 1664-3224, 2019, Volume 10, p. 497
B-cell development and function depend on stage-specific signaling through the B-cell antigen receptor (BCR). Signaling and intracellular trafficking of the... 
Signal transduction | P14 | LAMTOR2 | B cells | B-cell antigen receptor | Trafficking | RECOMBINATION | signal transduction | KINASE | TRANSCRIPTION | IMMUNOLOGY | SIGNAL-TRANSDUCTION | p14 | INTERNALIZATION | SCAFFOLD COMPLEX | RECEPTORS | trafficking
Journal Article
Journal Article
Gastroenterology, ISSN 0016-5085, 2012, Volume 143, Issue 2, pp. 347 - 355
Journal Article