18 Result(s)
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Ronald G. Crystal
Human Genetics
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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 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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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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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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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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Open AccessCigarette smoking induces small airway epithelial epigenetic changes with corresponding modulation of gene expression
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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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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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Modification of gene expression of the small airway epithelium in response to cigarette smoking
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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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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
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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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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Ectopic expression of thyrotropin releasing hormone (TRH) receptors in liver modulates organ function to regulate blood glucose by TRH
Maintenance of blood glucose by the liver is normally initiated by extracellular regulatory molecules such as glucagon and vasopressin triggering specific hepatocyte receptors to activate the cAMP or phosphoin...
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Article
Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis
We have administered a recombinant adenovirus vector (AdCFTR) containing the normal human CFTR cDNA to the nasal and bronchial epithelium of four individuals with cystic fibrosis (CF). We show that this vector ca...
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Direct in vivo gene transfer to ependymal cells in the central nervous system using recombinant adenovirus vectors
To evaluate the potential for adenovirus–mediated central nervous system (CMS) gene transfer, the replication deficient recombinant adenovirus vectors Ad.RSVβgal (coding for β–galactosidase) and Ad–α1AT (codin...
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Article
Genetic basis of variable exon 9 skip** in cystic fibrosis transmembrane conductance regulator mRNA
Variable in–frame skip** of exon 9 in cystic fibrosis transmembrane conductance regulator (CFTR) mRNA transcripts (exon 9−) occurs in the respiratory epithelium. To explore the genetic basis of this event, we e...
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A Pro → Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen
The molecular defect has been elucidated in the alpha-1-antitrypsin (PI) gene of a patient with a serum level of only 5 mg/100 ml and a PI M-like phenotype, designated PI MHeerlen. The restriction fragment pat...
