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Article
Open AccessExpression and processing of mature human frataxin after gene therapy in mice
Friedreich’s ataxia is a degenerative and progressive multisystem disorder caused by mutations in the highly conserved frataxin (FXN) gene that results in FXN protein deficiency and mitochondrial dysfunction. ...
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Article
Open AccessHigh apoptotic endothelial microparticle levels measured in asthma with elevated IgE and eosinophils
While asthma is considered an inflammatory-mediated airway epithelial and smooth muscle disorder, there is increasing evidence of airway capillary endothelial dysfunction associated with vascular remodelling a...
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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 AccessImpaired differentiation of small airway basal stem/progenitor cells in people living with HIV
With highly active anti-retroviral therapy (HAART), higher incidence of airway abnormalities is common in the HIV population consistent with the concept of accelerated lung “aging”. Our previous findings demon...
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Article
Gene therapy in a murine model of chronic eosinophilic leukemia-not otherwise specified (CEL-NOS)
Chronic eosinophilic leukemia-not otherwise specified (CEL-NOS) is a rare, aggressive, fatal disease characterized by blood eosinophilia and dysfunction of organs infiltrated with eosinophils. Clinically, the ...
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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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Article
Open AccessUp-regulation of ACE2, the SARS-CoV-2 receptor, in asthmatics on maintenance inhaled corticosteroids
The first step in SARS-CoV-2 infection is binding of the virus to angiotensin converting enzyme 2 (ACE2) on the airway epithelium. Asthma affects over 300 million people world-wide, many of whom may encounter ...
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Article
Open AccessCREB-dependent LPA-induced signaling initiates a pro-fibrotic feedback loop between small airway basal cells and fibroblasts
Lysophosphatidic acid (LPA), generated extracellularly by the action of autotaxin and phospholipase A2, functions through LPA receptors (LPARs) or sphingosine-1-phosphate receptors (S1PRs) to induce pro-fibrot...
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Article
Open AccessExtracellular vesicles from human airway basal cells respond to cigarette smoke extract and affect vascular endothelial cells
The human airway epithelium lining the bronchial tree contains basal cells that proliferate, differentiate, and communicate with other components of their microenvironment. One method that cells use for interc...
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Article
Open AccessHIV induces airway basal progenitor cells to adopt an inflammatory phenotype
Despite the introduction of anti-retroviral therapy, chronic HIV infection is associated with an increased incidence of other comorbidities such as COPD. Based on the knowledge that binding of HIV to human air...
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Article
Open AccessCell-specific expression of lung disease risk-related genes in the human small airway epithelium
The human small airway epithelium (SAE) plays a central role in the early events in the pathogenesis of most inherited and acquired lung disorders. Little is known about the molecular phenotypes of the specifi...
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Article
Open AccessIncreased airway iron parameters and risk for exacerbation in COPD: an analysis from SPIROMICS
Levels of iron and iron-related proteins including ferritin are higher in the lung tissue and lavage fluid of individuals with chronic obstructive pulmonary disease (COPD), when compared to healthy controls. W...
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Article
Open AccessAssociation of vitamin D2 and D3 with type 2 diabetes complications
Vitamin D measurement is a composite of vitamin D2 (25(OH)D2) and D3 (25(OH)D3) levels, and its deficiency is associated with the development of type 2 diabetes (T2DM) and diabetic complications; vitamin D defici...
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Article
Open AccessIdentifying novel associations in GWAS by hierarchical Bayesian latent variable detection of differentially misclassified phenotypes
Heterogeneity in the definition and measurement of complex diseases in Genome-Wide Association Studies (GWAS) may lead to misdiagnoses and misclassification errors that can significantly impact discovery of di...
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Article
Open AccessIntermittent exposure to whole cigarette smoke alters the differentiation of primary small airway epithelial cells in the air-liquid interface culture
Cigarette smoke (CS) is the leading risk factor to develop COPD. Therefore, the pathologic effects of whole CS on the differentiation of primary small airway epithelial cells (SAEC) were investigated, using ce...
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Gene Therapy for Coronary Artery Disease
Congestive heart failure is the common end point for advanced coronary artery disease and the leading cause of mortality from heart disease. Stents and surgical bypass can address focal obstruction in larger c...
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Genetic Evaluation of Male Infertility
Male infertility affects 7% of all men worldwide, yet for the majority the underlying cause is not found. From the very first identified karyoty** abnormalities to the very recent discovery of point mutation...
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Article
Open AccessCharacterization of an immortalized human small airway basal stem/progenitor cell line with airway region-specific differentiation capacity
The pathology of chronic obstructive pulmonary disease (COPD), idiopathic pulmonary fibrosis (IPF) and most lung cancers involves the small airway epithelium (SAE), the single continuous layer of cells lining ...
