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Article
Open AccessRole of KRAS in regulating normal human airway basal cell differentiation
KRAS is a GTPase that activates pathways involved in cell growth, differentiation and survival. In normal cells, KRAS-activity is tightly controlled, but with specific mutations, the KRAS protein is persistent...
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Article
Open AccessUntargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)
Late infantile neuronal ceroid lipofuscinosis (CLN2 disease) is a rare lysosomal storage disorder caused by a monogenetic deficiency of tripeptidyl peptidase-1 (TPP1). Despite knowledge that lipofuscin is the hal...
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Article
Open AccessAltered lung biology of healthy never smokers following acute inhalation of E-cigarettes
Little is known about health risks associated with electronic cigarette (EC) use although EC are rising in popularity and have been advocated as a means to quit smoking cigarettes.
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Article
Open AccessWhole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population
Metabolomics-genome-wide association studies (mGWAS) have uncovered many metabolic quantitative trait loci (mQTLs) influencing human metabolic individuality, though predominantly in European cohorts. By combin...
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Article
Endothelial Cell Mediated Promotion of Ciliated Cell Differentiation of Human Airway Basal Cells via Insulin and Insulin-Like Growth Factor 1 Receptor Mediated Signaling
Human airway basal cells (BC) function as stem/progenitor cells of the human airway epithelium, capable of differentiating into ciliated and secretory cells during turnover and repair. The positioning of BC al...
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Reference Work Entry In depth
Chronic Obstructive Pulmonary Disease and Lung Cancer
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Article
JAG1-Mediated Notch Signaling Regulates Secretory Cell Differentiation of the Human Airway Epithelium
Basal cells (BC) are the stem/progenitor cells of the human airway epithelium capable of differentiating into secretory and ciliated cells. Notch signaling activation increases BC differentiation into secretor...
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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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Adenovirus-Based Vaccines for the Treatment of Substance Use Disorders
Addictive drugs are a major worldwide problem, and for many there are few effective therapies. Based on the concept that high titers of drug-specific antibodies can bind to addictive drugs in the blood prevent...
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Article
Open AccessCopy number variations in the genome of the Qatari population
The populations of the Arabian Peninsula remain the least represented in public genetic databases, both in terms of single nucleotide variants and of larger genomic mutations. We present the first high-resolut...
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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
Open AccessSmoking accelerates aging of the small airway epithelium
Aging involves multiple biologically complex processes characterized by a decline in cellular homeostasis over time leading to a loss and impairment of physiological integrity and function. Specific cellular h...
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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 AccessGeneration of a human airway epithelium derived basal cell line with multipotent differentiation capacity
As the multipotent progenitor population of the airway epithelium, human airway basal cells (BC) replenish the specialized differentiated cell populations of the mucociliated airway epithelium during physiolog...
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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
Adenovirus Capsid-Based Anti-Cocaine Vaccine Prevents Cocaine from Binding to the Nonhuman Primate CNS Dopamine Transporter
Cocaine addiction is a major problem for which there is no approved pharmacotherapy. We have developed a vaccine to cocaine (dAd5GNE), based on the cocaine analog GNE linked to the capsid proteins of a serotyp...
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Article
Open AccessRFX3 Modulation of FOXJ1 regulation of cilia genes in the human airway epithelium
Ciliated cells play a central role in cleansing the airways of inhaled contaminants. They are derived from basal cells that include the airway stem/progenitor cells. In animal models, the transcription factor ...
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Article
Open AccessCigarette smoking induces small airway epithelial epigenetic changes with corresponding modulation of gene expression
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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...
