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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
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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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 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 AccessCigarette smoking induces small airway epithelial epigenetic changes with corresponding modulation of gene expression
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Article
Airway basal cell vascular endothelial growth factor-mediated cross-talk regulates endothelial cell-dependent growth support of human airway basal cells
The human airway epithelium is a pseudostratified heterogenous layer comprised of ciliated, secretory, intermediate, and basal cells. As the stem/progenitor population of the airway epithelium, airway basal ce...
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Article
Open AccessInferring genome-wide patterns of admixture in Qataris using fifty-five ancestral populations
Populations of the Arabian Peninsula have a complex genetic structure that reflects waves of migrations including the earliest human migrations from Africa and eastern Asia, migrations along ancient civilizati...
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Article
Open AccessRNA-Seq quantification of the human small airway epithelium transcriptome
The small airway epithelium (SAE), the cell population that covers the human airway surface from the 6th generation of airway branching to the alveoli, is the major site of lung disease caused by smoking. The foc...
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Article
Cigarette smoking reprograms apical junctional complex molecular architecture in the human airway epithelium in vivo
The apical junctional complex (AJC), composed of tight and adherens junctions, maintains epithelial barrier function. Since cigarette smoking and chronic obstructive pulmonary disease (COPD), the major smoking...
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Article
Open AccessIdentification of an exonic splicing silencer in exon 6A of the human VEGF gene
The different isoforms of vascular endothelial growth factor (VEGF) play diverse roles in vascular growth, structure and function. Alternative splicing of the VEGF gene results in the expression of three abund...
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Article
Open AccessQuality control in microarray assessment of gene expression in human airway epithelium
Microarray technology provides a powerful tool for defining gene expression profiles of airway epithelium that lend insight into the pathogenesis of human airway disorders. The focus of this study was to estab...
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Article
A SNAIL1–SMAD3/4 transcriptional repressor complex promotes TGF-β mediated epithelial–mesenchymal transition
TGF-β mediates epithelial-mesenchymal transitions (EMT) during tumorigenesis but the molecular mechanisms driving this effect have been unclear. The transcriptional repressor SNAIL1 and the downstream effector...
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Setting Back the Clock: Adenoviral-Mediated Gene Therapy for Lysosomal Storage Disorders
Lysosomal storage diseases (LSD) arise from mutations in the genes for lysosomal proteins that degrade and recycle macromolecules (Futerman and van Meer, 2004; Mach, 2002; Vellodi, 2005; Walkley, 2001). The un...
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Article
Fooling Mother Nature
Correcting defective genes at the mRNA level shows promise for the treatment of cystic fibrosis.
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Article
The body as a manufacturer of endostatin
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Augmentation of blood platelet levels by intratracheal administration of an adenovirus vector encoding human thrombopoietin cDNA
This study was designed to evaluate the hypothesis that administration of a replication-deficient, recombinant adenovirus vector to the epithelial surface of the respiratory tract can be used to deliver a reco...
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Article
Recombinant Proteins of Therapeutic Interest Expressed by Lymphoid Cell Lines Derived from Transgenic Mice
As a new approach to produce human proteins of therapeutic interest we have derived lymphoid cell lines expressing such proteins from transgenic mice, either by generating trans-hybridomas by cell fusion in vitro