37 Result(s)
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Ronald G. Crystal
Biomedicine
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Article
Can gene therapy be used to prevent cancer? Gene therapy for aldehyde dehydrogenase 2 deficiency
Approximately 8% of the world population and 35–45% of East Asians are carriers of the hereditary disorder aldehyde dehydrogenase 2 (ALDH2) deficiency. ALDH2 plays a central role in the liver to metabolize eth...
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Article
Open AccessThe QChip1 knowledgebase and microarray for precision medicine in Qatar
Risk genes for Mendelian (single-gene) disorders (SGDs) are consistent across populations, but pathogenic risk variants that cause SGDs are typically population-private. The goal was to develop “QChip1,” an in...
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Article
Open AccessA Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes
Human serine/threonine kinase 4 (STK4) deficiency is a rare, autosomal recessive genetic disorder leading to combined immunodeficiency; however, the extent to which immune signaling and host defense are impair...
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Article
Open AccessSmoking shifts human small airway epithelium club cells toward a lesser differentiated population
The club cell, a small airway epithelial (SAE) cell, plays a central role in human lung host defense. We hypothesized that subpopulations of club cells with distinct functions may exist. The SAE of healthy non...
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Reference Work Entry In depth
Chronic Obstructive Pulmonary Disease and Lung Cancer
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Article
Open AccessThe Qatar genome: a population-specific tool for precision medicine in the Middle East
Reaching the full potential of precision medicine depends on the quality of personalized genome interpretation. In order to facilitate precision medicine in regions of the Middle East and North Africa (MENA), ...
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Article
Open AccessRole of SLMAP genetic variants in susceptibility of diabetes and diabetic retinopathy in Qatari population
Overexpression of SLMAP gene has been associated with diabetes and endothelial dysfunction of macro- and micro-blood vessels. In this study our primary objective is to explore the role of SLMAP gene polymorphisms...
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Living Reference Work Entry In depth
Chronic Obstructive Pulmonary Disease and Lung Cancer
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Article
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia
In Friedreich's ataxia, caused by mutation of the gene encoding the mitochondrial protein frataxin, the major cause of mortality is heart failure. Using mice lacking frataxin in the heart, Hélène Puccio and he...
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Article
Open AccessVitamin D-responsive SGPP2 variants associated with lung cell expression and lung function
Vitamin D is associated with lung health in epidemiologic studies, but mechanisms mediating observed associations are poorly understood. This study explores mechanisms for an effect of vitamin D in lung throug...
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Article
Genome-wide study identifies two loci associated with lung function decline in mild to moderate COPD
Accelerated lung function decline is a key COPD phenotype; however, its genetic control remains largely unknown. We performed a genome-wide association study using the Illumina Human660W-Quad v.1_A BeadChip. G...
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Article
Open AccessGenes associated with MUC5AC expression in small airway epithelium of human smokers and non-smokers
Mucus hypersecretion contributes to the morbidity and mortality of smoking-related lung diseases, especially chronic obstructive pulmonary disease (COPD), which starts in the small airways. Despite progress in...
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Article
Open AccessCoordinate Control of Expression of Nrf2-Modulated Genes in the Human Small Airway Epithelium Is Highly Responsive to Cigarette Smoking
Nuclear factor erythroid 2-related factor 2 (Nrf2) is an oxidant-responsive transcription factor known to induce detoxifying and antioxidant genes. Cigarette smoke, with its large oxidant content, is a major s...
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Reference Work Entry In depth
Chronic Obstructive Pulmonary Disease and Lung Cancer
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Article
Modification of gene expression of the small airway epithelium in response to cigarette smoking
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Article
Modification of gene expression of the small airway epithelium in response to cigarette smoking
The earliest morphologic evidence of changes in the airways associated with chronic cigarette smoking is in the small airways. To help understand how smoking modifies small airway structure and function, we de...
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Article
Cytokine-mediated deployment of SDF-1 induces revascularization through recruitment of CXCR4+ hemangiocytes
The mechanisms through which hematopoietic cytokines accelerate revascularization are unknown. Here, we show that the magnitude of cytokine-mediated release of SDF-1 from platelets and the recruitment of nonen...
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Article
Gene expression profiling of human alveolar macrophages of phenotypically normal smokers and nonsmokers reveals a previously unrecognized subset of genes modulated by cigarette smoking
Cigarette smoking is the leading cause of the respiratory diseases collectively known as chronic obstructive pulmonary disease (COPD). While the pathogenesis of COPD is complex, there is abundant evidence that...
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Article
Genetic medicines: treatment strategies for hereditary disorders
Of the approximately 25,000 genes that comprise the human genome, mutations in more than 1,800 have already been identified as causing hereditary disorders.
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Chapter
Cancer-Related Gene Therapy Clinical Trials
Gene therapy represents a strategy using transfer of genetic information to modify a population of target cells for therapeutic purposes. The transferred genetic material has typically included double-stranded...
