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PLoS ONE, ISSN 1932-6203, 10/2017, Volume 12, Issue 10, p. e0185785
Background Hereditary thrombophilia (HT) is a genetic predisposition to thrombosis. Asian mutation spectrum of HT is different from Western ones. We... 
POPULATION | FACTOR-V-LEIDEN | RISK-FACTORS | MANAGEMENT | MULTIDISCIPLINARY SCIENCES | PULMONARY-EMBOLISM | MUTATION | DEEP-VEIN THROMBOSIS | ANTITHROMBIN-III | PROTEIN-C | CARRIERS | Protein C Deficiency - complications | Conjunctivitis - genetics | Protein C Deficiency - physiopathology | Humans | Middle Aged | Plasminogen - genetics | Male | Antithrombin III Deficiency - genetics | Antithrombin III - genetics | Skin Diseases, Genetic - genetics | Thrombophilia - etiology | Protein S Deficiency - genetics | Thrombophilia - diagnosis | Antithrombin III Deficiency - physiopathology | Skin Diseases, Genetic - diagnosis | Adult | Female | Retrospective Studies | Antithrombin III Deficiency - complications | Protein S Deficiency - physiopathology | Skin Diseases, Genetic - complications | Antithrombin III Deficiency - diagnosis | Republic of Korea | Venous Thromboembolism - diagnosis | Thrombophilia - genetics | Gene Expression | Protein S Deficiency - complications | Protein S - genetics | Thrombophilia - physiopathology | Sequence Analysis, DNA | Venous Thromboembolism - etiology | Venous Thromboembolism - genetics | Skin Diseases, Genetic - physiopathology | Venous Thromboembolism - physiopathology | Conjunctivitis - physiopathology | Protein C Deficiency - diagnosis | Aged | Protein C Deficiency - genetics | Conjunctivitis - complications | Protein C - genetics | Protein S Deficiency - diagnosis | Conjunctivitis - diagnosis | Plasminogen - deficiency | Type 2 diabetes | Protein C | Genetic aspects | Research | Nucleotide sequencing | Health aspects | DNA sequencing | Hypertension | Anticoagulants | Stroke | Laboratories | Embolisms | Protein deficiency | Antithrombin | Patients | Thrombosis | Gene sequencing | Proteins | Medicine | Thrombophilia | Protein S | Genetics | Diabetes | Mutation | Thromboembolism | Cardiology | Health risk assessment | Deoxyribonucleic acid--DNA | Veins & arteries | Deoxyribonucleic acid | DNA
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2017, Volume 377, Issue 1, pp. 52 - 61
CD55 prevents convertase enzyme formation in the complement cascade, acting as a brake on complement activation. Inactivating mutations in CD55 result in... 
Protein-Losing Enteropathies | Complement Activation | Intestine, Small | T-Lymphocytes | Humans | Child, Preschool | Complement Inactivating Agents | Infant | Male | Immunoglobulin A | Thrombosis | Syndrome | Journal Article | Complement System Proteins | Homozygote | Pedigree | Statistics, Nonparametric | Female | Mutation | CD55 Antigens | Child | MEDICINE, GENERAL & INTERNAL | ACTIVATION | INFLAMMATORY-BOWEL-DISEASE | HEMOLYTIC-UREMIC SYNDROME | CELL RESPONSES | COMPLEMENT REGULATORY PROTEIN | INAB PHENOTYPE | DECAY-ACCELERATING FACTOR | PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA | MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS | T-CELLS | Intestine, Small - pathology | CD55 Antigens - genetics | Protein-Losing Enteropathies - genetics | Complement System Proteins - metabolism | CD55 Antigens - blood | Complement Activation - genetics | T-Lymphocytes - metabolism | Complement Inactivating Agents - pharmacology | Protein-Losing Enteropathies - complications | Immunoglobulin A - blood | Thrombosis - genetics | Complement Activation - drug effects | Proteins | Molecular targeted therapy | Gene mutations | Gastrointestinal diseases | Analysis | Homeostasis | Research | Blood clot | Gastrointestinal tract diseases | Complement component C5a | Lymphocytes T | Cell activation | Immunology | Pain | Intestine | Hepatology | Gastroenterology | Malabsorption | Thromboembolism | Digestive tract | Age | Edema | Medical research | Lymphatic system | Hypersensitivity | Diarrhea | Inflammation | Heredity | Protein deficiency | Patients | Hereditary diseases | Complement activation | Infectious diseases | Decay-accelerating factor
Journal Article
Pediatric Research, ISSN 0031-3998, 01/2016, Volume 79, Issue 1, pp. 81 - 86
BACKGROUND: The early diagnosis of inherited thrombophilia in children is challenging because of the rarity and hemostatic maturation. METHODS: We explored... 
S DEFICIENCY | PROTEIN-C-DEFICIENCY | VENOUS THROMBOEMBOLISM | LABORATORY CHARACTERISTICS | PLASMA-LEVELS | THROMBOSIS | INHERITED THROMBOPHILIA | PEDIATRICS | COHORT | GENOME-WIDE ASSOCIATION | CHILDREN | Activated Protein C Resistance - epidemiology | Japan - epidemiology | Protein S - analysis | Humans | Child, Preschool | Infant | Male | Antithrombin III Deficiency - genetics | Thromboembolism - epidemiology | Antithrombin III Deficiency - blood | Thrombophilia - epidemiology | Promoter Regions, Genetic - genetics | Antithrombin III - genetics | Protein S Deficiency - genetics | Thrombophilia - diagnosis | Protein C Deficiency - epidemiology | DNA Mutational Analysis | Activated Protein C Resistance - blood | Female | Cerebrovascular Disorders - epidemiology | Activated Protein C Resistance - genetics | Child | Antithrombin III Deficiency - diagnosis | Protein C Deficiency - blood | Thrombophilia - genetics | Protein S - genetics | Antithrombin III Deficiency - epidemiology | Antithrombin III - analysis | Genotype | Protein C - analysis | Thromboembolism - etiology | Cerebrovascular Disorders - etiology | Activated Protein C Resistance - diagnosis | Thrombophilia - blood | Adolescent | Age of Onset | Protein C Deficiency - diagnosis | Protein S Deficiency - epidemiology | Prothrombin - genetics | Factor V - genetics | Protein C Deficiency - genetics | Protein S Deficiency - blood | Protein C - genetics | Protein S Deficiency - diagnosis
Journal Article
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE, ISSN 0003-9985, 10/2019, Volume 143, Issue 10, pp. 1281 - 1285
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
Journal of Clinical Investigation, ISSN 0021-9738, 05/2009, Volume 119, Issue 5, pp. 1350 - 1358
Journal Article
Circulation, ISSN 0009-7322, 04/2014, Volume 129, Issue 13, pp. 1397 - 1406
Journal Article
Trends in Molecular Medicine, ISSN 1471-4914, 2011, Volume 17, Issue 12, pp. 707 - 713