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The New England Journal of Medicine, ISSN 0028-4793, 06/2009, Volume 360, Issue 26, pp. 2749 - 2757
A 60-year-old white man presents for evaluation of progressive dyspnea. He is a former smoker with a 20-pack-year smoking history and a 10-year history of... 
Proteins | Genotype & phenotype | Chronic obstructive pulmonary disease | Liver diseases | Emphysema
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2012, Volume 122, Issue 3, pp. 821 - 832
Journal Article
1992, ISBN 0520077784, vi, 430
Book
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 134, Issue 6, pp. 1354 - 1364.e6
Background Inflammatory bowel disease (IBD) is one of the most common chronic gastrointestinal diseases, but the underlying molecular mechanisms remain largely... 
Allergy and Immunology | Inflammatory bowel disease | immune deficiency | lymphocytes | RhoA kinase | cytoskeleton | gut organoid | cell homeostasis | tetratricopeptide repeat domain 7A deficiency | cytoskeleton gut organoid | CROHNS-DISEASE | DENDRITIC CELLS | ULCERATIVE-COLITIS | IMMUNOLOGY | PLASMA-MEMBRANE | INFLAMMATORY-BOWEL-DISEASE | GENE | ALLERGY | RHO GTPASES | FLAKY SKIN | ANEMIA | TTC7A MUTATIONS | rhoA GTP-Binding Protein - immunology | Alopecia - immunology | Humans | Inflammatory Bowel Diseases - immunology | Middle Aged | Child, Preschool | Infant | Male | Mutation, Missense | Lymphopenia - pathology | rho-Associated Kinases - antagonists & inhibitors | Young Adult | Alopecia - genetics | Inflammatory Bowel Diseases - pathology | Inflammatory Bowel Diseases - genetics | Adult | Female | Child | Colon - pathology | Pyloric Antrum - pathology | Proteins - immunology | Alopecia - pathology | Proteins - genetics | Duodenum - pathology | Adolescent | rho-Associated Kinases - immunology | Lymphopenia - immunology | Lymphopenia - genetics | Developmental biology | Gastrointestinal diseases | Stem cells | Immunodeficiency | Autoimmunity | Alopecia | Baldness | Analysis | Lymphocytopenia | Studies | Parenteral nutrition | Mutation | Patients | Age | Immune system | Apoptosis | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Blood, ISSN 0006-4971, 2013, Volume 121, Issue 16, pp. 3112 - 3116
Journal Article
Journal Article
Environmental and Molecular Mutagenesis, ISSN 0893-6692, 01/2018, Volume 59, Issue 1, pp. 18 - 29
Lack of cell surface glycosylphosphatidylinositol (GPI)‐anchored protein(s) has been used as a reporter of Pig‐a gene mutation in several model systems. As an... 
phenotype | Pig‐a | phosphatidylinositol glycan complement class A gene | gene mutation | flow cytometry | + | mutagenesis | L5178Y/Tk | fluorescent antibody labeling | sequencing | Pig-a | APOPTOSIS | L5178Y | STEM-CELLS | PERFORMANCE | PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA | MUTAGENICITY | ENVIRONMENTAL SCIENCES | Tk | GENETICS & HEREDITY | TK6 CELLS | RESISTANCE | LABORATORIES | TOXICOLOGY | SPECTRUM | Flow Cytometry - methods | Reproducibility of Results | Membrane Proteins - genetics | Glycosylphosphatidylinositols - genetics | Mutagenesis - genetics | Mutagens - pharmacology | Mutagenicity Tests - methods | Mutation - genetics | Mutagenesis - drug effects | Animals | Mutation - drug effects | Ethyl Methanesulfonate - pharmacology | Thy-1 Antigens - genetics | Cell Line, Tumor | Leukocyte Common Antigens - genetics | Mice | Glycosylphosphatidylinositols - deficiency | Antigens | Gene mutations | Analysis | Genes | Journalists | Genetic research | Genetic aspects | Flow cytometry | Control equipment | Antibodies | Fluorescence | Assaying | Cell surface | CD45 antigen | Gene sequencing | Proteins | CD90 antigen | Parallel processing | Incubation | Cloning | Cultures | Data processing | Protein deficiency | Lymphoma | Anchors | Mutagens | Reagents | Point mutation | Glycosylphosphatidylinositol | Mutation | Ethyl methanesulfonate | Viability | Index Medicus |
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2017, Volume 12, Issue 10, pp. e0185785 - 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 |