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American journal of respiratory and critical care medicine, ISSN 1073-449X, 07/2019, Volume 200, Issue 2, pp. 247 - 249
To address this, Newton and colleagues conducted a retrospective observational cohort study of patients with interstitial pneumonia with autoimmune features... 
Pneumonia | Lung diseases | Genes | Critical care | Genomes | Studies | Proteins | Pulmonary fibrosis | Rheumatoid arthritis | Clinical medicine | Health risk assessment | Telomerase | Polymorphism
Journal Article
Drug Discovery Today, ISSN 1359-6446, 12/2014, Volume 19, Issue 12, pp. 1836 - 1840
Chemical drugs provide alternative treatments for genetic diseases in addition to gene therapy. Inherited diseases arising from gain-of-function (GOF) or... 
CELL LUNG-CANCER | ANDROGEN RECEPTOR | THERAPY | SENSITIVITY | RESISTANCE | TYROSINE KINASE INHIBITOR | RESONANCE ENERGY-TRANSFER | PHARMACOLOGY & PHARMACY | EGFR MUTATIONS | DOMAIN MUTATIONS | MINERALOCORTICOID RECEPTOR | Mutation | Humans | Genetic Diseases, Inborn - drug therapy | Genetic Diseases, Inborn - genetics | Drugs
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2012, Volume 21, Issue 6, pp. 1325 - 1335
Journal Article
by Gelb, Bruce and Brueckner, Martina and Chung, Wendy and Goldmuntz, Elizabeth and Kaltman, Jonathan and Kaski, Juan Pablo and Kim, Richard and Kline, Jennie and Mercer-Rosa, Laura and Porter, George and Roberts, Amy and Rosenberg, Ellen and Seiden, Howard and Seidman, Christine and Sleeper, Lynn and Tennstedt, Sharon and Schramm, Charlene and Burns, Kristin and Pearson, Gail and Breitbart, Roger and Colan, Steven and Geva, Judith and Monafo, Angela and Stryker, Janice and McDonough, Barbara and Seidman, Jonathan and Edman, Sharon and Garbarini, Jennifer and Hakonarson, Hakon and Mitchell, Laura and Tusi, Jessica and White, Peter and Woyciechowski, Stacy and Warburton, Dorothy and Awad, Danielle and Celia, Katrina and Etwaru, Davina and Sond, Jaswinder Kaur and Korsin, Rosalind and Lanz, Alyssa and Marquez, Emma and Williams, Ismee and Wilpers, Abigail and Yee, Roslyn and Guevara, Denise and Julian, Ariel and Neal, Meghan Mac and Mintz, Cassie and Peter, Inga and Sachidanandam, Ravi and Romano-Adesman, Angela and Gruber, Dorota and Stellato, Nancy and Lifton, Richard and Cross, Nancy and Deanfield, John and Giardini, Alessandro and Flack, Karen and Taillie, Eileen and Tran, Nhu and Dandreo, Kimberly and Gallagher, Dianne and Lu, Minmin and Berlin, Dorit and Beiswanger, Christine and Italia, Mike and Brooks, Maria and Olive, Michelle and Botkin, Jeffrey and Dupuis, Josee and Garg, Vidu and Watson, Mike and Bristow, James and Evans, Todd and Kendziorski, Christina and Mardis, Elaine and Murray, Jeffrey and Saltz, Joel and Wong, Hector and Pediatric Cardiac Genomics Consort and Pediatric Cardiac Genomics Consortium and Core Laboratories for PCGC and Biorepository, Coriell Institutes and Clinical Sites and Data Hub, Children’s Hospital Philadelphia and Data Coordinating Center and Genotyping Array, Children’s Hospital Philadelphia and External Advisory Committee and Candidate Gene Evaluation and RNASeq, Harvard Medical School and Confirmation, Columbia University and Observational Study Monitoring Board and National Heart, Lung, and Blood Institute and Whole Genome Sequencing Harvard Medical School and Brigham & Women’s Hospital and Whole Exome Sequencing, Yale University and Writing Committee
Circulation Research, ISSN 0009-7330, 02/2013, Volume 112, Issue 4, pp. 698 - 706
Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic.... 
Congenital cardiac defects | Congenital heart disease | Genomic study | Human genetics | Genome-wide analysis | human genetics | DEFECTS | CARDIAC & CARDIOVASCULAR SYSTEMS | HYPOPLASTIC LEFT-HEART | NKX2-5 MUTATIONS | genomic study | LEFT-RIGHT ASYMMETRY | NATIONAL HEART | congenital cardiac defects | COPY-NUMBER VARIATION | WORKING GROUP | MALFORMATIONS | genome-wide analysis | congenital heart disease | BICUSPID AORTIC-VALVE | PERIPHERAL VASCULAR DISEASE | HEMATOLOGY | ASSOCIATION | Biological Specimen Banks - organization & administration | Prospective Studies | Follow-Up Studies | Outcome Assessment (Health Care) | United States | Genomics | Humans | Child, Preschool | Infant | Data Collection | National Heart, Lung, and Blood Institute (U.S.) - organization & administration | Patient Selection | Schools, Medical - organization & administration | Young Adult | Heart Defects, Congenital - genetics | DNA Mutational Analysis | Adult | Registries - ethics | Child | Infant, Newborn | Databases, Factual | Genetic Association Studies | Genotype | Clinical Trials as Topic | Gene Dosage | Interdisciplinary Communication | Translational Medical Research - organization & administration | Phenotype | Confidentiality | Adolescent | Heart Defects, Congenital - epidemiology | Hospitals, Pediatric - organization & administration
Journal Article
Thorax, ISSN 0040-6376, 2019, Volume 74, Issue 3, pp. 215 - 216
In this issue of Thorax, Dizier et al report an interesting pathway-based approach to a gene by environment (G×E) analysis of a well-established... 
asthma genetics | asthma | tobacco and the lung | ASTHMA | SMOKE | BRONCHIAL HYPERRESPONSIVENESS | RESPIRATORY SYSTEM | EXPOSURE | Tobacco smoke | Disease | Genes | Homeostasis | Lipids | Genomes | Inflammation | Apolipoproteins | Patients | Asthma | Studies | Proteins | Hypotheses | Genetics | Regulation | Binding sites
Journal Article
Nature Medicine, ISSN 1078-8956, 12/2014, Volume 20, Issue 12, pp. 1410 - 1416
The protein cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential negative regulator of immune responses, and its loss causes fatal autoimmunity in mice.... 
PATHWAYS | MEDICINE, RESEARCH & EXPERIMENTAL | CLINICAL-PICTURE | HOMEOSTASIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL BIOLOGY | AUTOIMMUNITY | REGULATORY T-CELLS | GERMLINE MUTATIONS | MICE | BLOCKADE | IMMUNODEFICIENCY | ABATACEPT | Recurrence | Agammaglobulinemia - immunology | Agammaglobulinemia - genetics | Purpura, Thrombocytopenic, Idiopathic - genetics | Exons | Immune System Diseases - genetics | Humans | Middle Aged | Male | Anemia, Hemolytic, Autoimmune - genetics | Mutation, Missense | Respiratory Tract Infections - genetics | T-Lymphocytes, Regulatory - immunology | Autoimmune Diseases - genetics | Young Adult | Purpura, Thrombocytopenic, Idiopathic - immunology | Adult | Female | Endocytosis - genetics | Polyendocrinopathies, Autoimmune - genetics | Child | Endocytosis - immunology | Granuloma - genetics | Autoimmune Diseases - immunology | CTLA-4 Antigen - genetics | B7-1 Antigen - metabolism | Codon, Nonsense | CTLA-4 Antigen - immunology | Syndrome | Polyendocrinopathies, Autoimmune - immunology | Lung Diseases, Interstitial - immunology | Animals | B-Lymphocytes - immunology | Lung Diseases, Interstitial - genetics | Pedigree | Anemia, Hemolytic, Autoimmune - immunology | Adolescent | Respiratory Tract Infections - immunology | Granuloma - immunology | Heterozygote | Mice | Antigens | Gene mutations | Physiological aspects | Genetic aspects | Immunologic diseases | Research | Risk factors | Proteins | Homeostasis | Cytotoxicity | Ligands | T cell receptors | Mutation | Immune system
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2010, Volume 125, Issue 2, pp. S81 - S94
Allergic diseases are complex genetic diseases resulting from the effect of multiple genetic and interacting environmental factors on their pathophysiology.... 
Allergy and Immunology | Heritability | genetics | genetic testing | pharmacogenetics | epigenetics | POSITIONAL CLONING | DUST-MITE EXPOSURE | ORMDL3 EXPRESSION | SEQUENCE VARIANTS | OF-FUNCTION MUTATIONS | IMMUNOLOGY | IMPROVED LUNG-FUNCTION |