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Journal Article
Nature Genetics, ISSN 1061-4036, 01/2017, Volume 49, Issue 2, pp. 256 - 261
Journal Article
Journal Article
Digestive Diseases and Sciences, ISSN 0163-2116, 4/2018, Volume 63, Issue 4, pp. 811 - 813
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 607 - 620.e15
Background Patients with heterozygous germline mutations in phosphatase and tensin homolog deleted on chromosome 10 (PTEN) experience autoimmunity and lymphoid... 
Allergy and Immunology | PHTS | autoimmunity | immunologic synapse | PTEN | Regulatory T cells | PH domain leucine-rich repeat protein phosphatase | phosphatases | phosphoinositide 3-kinase | HOMEOSTASIS | PROTEIN | KINASE | PROMOTER MUTATIONS | RILEY-RUVALCABA-SYNDROME | IMMUNOLOGY | ALLERGY | RESOLUTION MELTING ANALYSIS | AKT-MTOR | LYMPHOID HYPERPLASIA | EXPRESSION | Autoimmunity | Humans | Hyperplasia | Middle Aged | Phosphoprotein Phosphatases - metabolism | Male | Immunological Synapses - metabolism | Young Adult | Forkhead Transcription Factors - metabolism | Membrane Potential, Mitochondrial | Adult | Child | Hamartoma Syndrome, Multiple - immunology | Lymphocyte Subsets - physiology | T-Lymphocytes, Regulatory - physiology | PTEN Phosphohydrolase - genetics | Hamartoma Syndrome, Multiple - genetics | Signal Transduction | Cells, Cultured | B-Lymphocytes - physiology | PTEN Phosphohydrolase - metabolism | Nuclear Proteins - metabolism | Mutation - genetics | Protein Transport | Adolescent | Protein Binding | Aged | Medical colleges | Care and treatment | Phosphatases | Gene mutations | Analysis | Children's hospitals | Genomics | Medical genetics | Genetic research | T cells | Tumors | Hamartoma | Proteins | Blood & organ donations | Hematology | Biopsy | Lymphocytes | T cell receptors | Mutation | Kinases | Metabolism | Phosphatase | FACS, Fluorescence-activated cell sorting | TCR, T-cell receptor | mTOR complex 1 | NHERF1, Na+ | H+-exchanger 3 regulatory factor | MALT, Mucosa-associated lymphoid tissue | APC, Allophycocyanin | SHIP, Src homology domain 2–containing inositol phosphatase | HRM, High Resolution DNA Melting | FITC, Fluorescein isothiocyanate | PP2A, Protein phosphatase 2A | mTORC1, PTEN | PHTS, PTEN hamartoma tumor syndrome | PerCP, Peridinin-chlorophyll-protein complex | CS, Cowden syndrome | POD, Peroxidase | Tmem, Memory T | TMRE, Tetramethylrhodamine-ethylester | Immune Deficiencies, Infection, and Systemic Immune Disorders | IC50, Inhibitory concentration of 50 | CTLA-4, Cytotoxic T lymphocyte–associated antigen 4 | PHLPP, PH domain leucine-rich repeat protein phosphatase | AKT | DLG1, Scaffold protein discs, large homolog 1 | FOXP3, Forkhead box P3 | ICAM-1, Intercellular adhesion molecule 1 | iTreg, In vitro induced regulatory T | PE, Phycoerythrin | PI3K, Phosphoinositide 3-kinase | mTOR, Mammalian target of rapamycin | PTEN, Phosphatase and tensin homologue deleted on chromosome 10
Journal Article
by Taylor, Jenny C and Martin, Hilary C and Lise, Stefano and Broxholme, John and Cazier, Jean-Baptiste and Rimmer, Andy and Kanapin, Alexander and Lunter, Gerton and Fiddy, Simon and Allan, Chris and Aricescu, A. Radu and Attar, Moustafa and Babbs, Christian and Becq, Jennifer and Beeson, David and Bento, Celeste and Bignell, Patricia and Blair, Edward and Buckle, Veronica J and Bull, Katherine and Cais, Ondrej and Cario, Holger and Chapel, Helen and Copley, Richard R and Cornall, Richard and Craft, Jude and Dahan, Karin and Davenport, Emma E and Dendrou, Calliope and Devuyst, Olivier and Fenwick, Aimée L and Flint, Jonathan and Fugger, Lars and Gilbert, Rodney D and Goriely, Anne and Green, Angie and Greger, Ingo H and Grocock, Russell and Gruszczyk, Anja V and Hastings, Robert and Hatton, Edouard and Higgs, Doug and Hill, Adrian and Holmes, Chris and Howard, Malcolm and Hughes, Linda and Humburg, Peter and Johnson, David and Karpe, Fredrik and Kingsbury, Zoya and Kini, Usha and Knight, Julian C and Krohn, Jonathan and Lamble, Sarah and Langman, Craig and Lonie, Lorne and Luck, Joshua and McCarthy, Davis and McGowan, Simon J and McMullin, Mary Frances and Miller, Kerry A and Murray, Lisa and Németh, Andrea H and Nesbit, M. Andrew and Nutt, David and Ormondroyd, Elizabeth and Bang Oturai, Annette and Pagnamenta, Alistair and Patel, Smita Y and Percy, Melanie and Petousi, Nayia and Piazza, Paolo and Piret, Sian E and Polanco-Echeverry, Guadalupe and Popitsch, Niko and Powrie, Fiona and Pugh, Chris and Quek, Lynn and Robbins, Peter A and Robson, Kathryn and Russo, Alexandra and Sahgal, Natasha and Van Schouwenburg, Pauline A and Schuh, Anna and Silverman, Earl and Simmons, Alison and Sorensen, Per Soelberg and Sweeney, Elizabeth and Taylor, John and Thakker, Rajesh V and Tomlinson, Ian and Trebes, Amy and Twigg, Stephen R. F and Uhlig, Holm H and Vyas, Paresh and Vyse, Tim and Wall, Steven A and Watkins, Hugh and Whyte, Michael P and Witty, Lorna and ...
Nature Genetics, ISSN 1061-4036, 06/2015, Volume 47, Issue 7, pp. 717 - 726
Journal Article
Gut, ISSN 0017-5749, 06/2017, Volume 66, Issue 6, pp. 1060 - 1073
ObjectivePatients with Niemann–Pick disease type C1 (NPC1), a lysosomal lipid storage disorder that causes neurodegeneration and liver damage, can present with... 
IBD-GENETICS | IBD CLINICAL | IMMUNODEFICIENCY | IBD BASIC RESEARCH | Crohn'S DISEASE | MIGLUSTAT THERAPY | PATHOGENESIS | APOPTOSIS | DENDRITIC CELLS | MACROPHAGES | SUSCEPTIBILITY | ILEAL MUCOSA | PHAGOSOME PROTEOME | GASTROENTEROLOGY & HEPATOLOGY | BOWEL-DISEASE | INNATE IMMUNITY | Tumor Necrosis Factor-alpha - metabolism | Crohn Disease - genetics | X-Linked Inhibitor of Apoptosis Protein - deficiency | Humans | Child, Preschool | Lysosomes | Male | Nod2 Signaling Adaptor Protein - genetics | Leukocytes, Mononuclear | Pyridazines - pharmacology | Niemann-Pick Disease, Type C - physiopathology | Autophagy - drug effects | Crohn Disease - complications | Receptor-Interacting Protein Serine-Threonine Kinase 2 - metabolism | Young Adult | Gentamicins - pharmacology | Adult | Bacteria | Female | Genetic Diseases, X-Linked - genetics | Autophagy - genetics | Child | Receptor-Interacting Protein Serine-Threonine Kinase 2 - antagonists & inhibitors | Macrophages - physiology | Granuloma - genetics | Cells, Cultured | Chlorpromazine - pharmacology | Imidazoles - pharmacology | Acetylmuramyl-Alanyl-Isoglutamine - metabolism | X-Linked Inhibitor of Apoptosis Protein - genetics | Acetylmuramyl-Alanyl-Isoglutamine - pharmacology | Granuloma - pathology | Nod2 Signaling Adaptor Protein - metabolism | Crohn Disease - pathology | Dopamine Antagonists - pharmacology | Adolescent | X-Linked Inhibitor of Apoptosis Protein - metabolism | Macrophages - drug effects | Anti-Bacterial Agents - pharmacology | Protein Kinase Inhibitors - pharmacology | Mutation | Niemann-Pick Disease, Type C - complications | Niemann-Pick Disease, Type C - genetics | Autophagy (Cytology) | Inflammatory bowel diseases | Gastrointestinal diseases | Causes of | Colorectal diseases | Crohn's disease | Research | Niemann-Pick disease | Salmonella | Granuloma | Muramyl dipeptide | Liver | XIAP protein | Kinases | Macrophages | Autophagy | Defects | Genotype & phenotype | Cell activation | Intestine | Neurodegeneration | Npc1 protein | Age | NOD2 protein | Oligomerization | Dendritic cells | Cytokines | Blood & organ donations | Inflammation | Patients | Crohns disease | Studies | Inflammatory bowel disease | Monocytes | Proteomics | Colitis | Adapter proteins | Phagocytosis | Apoptosis | IBD - GENETICS | CROHN'S DISEASE | Inflammatory Bowel Disease | 1506
Journal Article