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Cigarette smoke and the induction of urokinase plasminogen activator receptor in vivo: selective contribution of isoforms to bronchial epithelial phenotype (2014)
Journal Article
Portelli, M. A., Stewart, C. E., Hall, I. P., Brightling, C. E., & Sayers, I. (2015). Cigarette smoke and the induction of urokinase plasminogen activator receptor in vivo: selective contribution of isoforms to bronchial epithelial phenotype. American Journal of Respiratory Cell and Molecular Biology, 53(2), 174-183. doi:10.1165/rcmb.2014-0296oc

The urokinase plasminogen activator receptor (uPAR) gene (PLAUR) has been identified as an asthma susceptibility gene, with polymorphisms within that gene being associated with baseline lung function, lung function decline, and lung function in a smo... Read More about Cigarette smoke and the induction of urokinase plasminogen activator receptor in vivo: selective contribution of isoforms to bronchial epithelial phenotype.

Large-Scale Genome-Wide Association Studies and Meta-Analyses of Longitudinal Change in Adult Lung Function (2014)
Journal Article
Chen, L., Tang, W., Kowgier, M., Loth, D. W., Soler Artigas, M., Joubert, B. R., …Cassano, P. A. (2014). Large-Scale Genome-Wide Association Studies and Meta-Analyses of Longitudinal Change in Adult Lung Function. PLoS ONE, 9(7), Article e100776. https://doi.org/10.1371/journal.pone.0100776

Background: Genome-wide association studies (GWAS) have identified numerous loci influencing cross-sectional lung function, but less is known about genes influencing longitudinal change in lung function. Methods: We performed GWAS of the rate of cha... Read More about Large-Scale Genome-Wide Association Studies and Meta-Analyses of Longitudinal Change in Adult Lung Function.

Genome-wide association analysis identifies six new loci associated with forced vital capacity (2014)
Journal Article
Loth, D. W., Artigas, M. S., Gharib, S. A., Wain, L. V., Franceschini, N., Koch, B., …London, S. J. (2014). Genome-wide association analysis identifies six new loci associated with forced vital capacity. Nature Genetics, 46(7), 669-677. https://doi.org/10.1038/ng.3011

Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies an... Read More about Genome-wide association analysis identifies six new loci associated with forced vital capacity.

Clonally expanded human airway smooth muscle cells exhibit morphological and functional heterogeneity (2014)
Journal Article
Singh, S. R., Billington, C. K., Sayers, I., & Hall, I. P. (2014). Clonally expanded human airway smooth muscle cells exhibit morphological and functional heterogeneity. Respiratory Research, 15(1), Article 57. https://doi.org/10.1186/1465-9921-15-57

Background: Mesenchyme-derived airway cell populations including airway smooth muscle (ASM) cells, fibroblasts and myofibroblasts play key roles in the pathogenesis of airway inflammation and remodeling. Phenotypic and functional characterisation of... Read More about Clonally expanded human airway smooth muscle cells exhibit morphological and functional heterogeneity.

Whole Exome Re-Sequencing Implicates CCDC38 and Cilia Structure and Function in Resistance to Smoking Related Airflow Obstruction (2014)
Journal Article
Wain, L. V., Sayers, I., Soler Artigas, M., Portelli, M. A., Zeggini, E., Obeidat, M., …Tobin, M. D. (2014). Whole Exome Re-Sequencing Implicates CCDC38 and Cilia Structure and Function in Resistance to Smoking Related Airflow Obstruction. PLoS Genetics, 10(5), Article e1004314. https://doi.org/10.1371/journal.pgen.1004314

Chronic obstructive pulmonary disease (COPD) is a leading cause of global morbidity and mortality and, whilst smoking remains the single most important risk factor, COPD risk is heritable. Of 26 independent genomic regions showing association with l... Read More about Whole Exome Re-Sequencing Implicates CCDC38 and Cilia Structure and Function in Resistance to Smoking Related Airflow Obstruction.

The role of inflammation resolution speed in airway smooth muscle mass accumulation in asthma: insight from a theoretical model (2014)
Journal Article
Chernyavsky, I. L., Croisier, H., Chapman, L. A., Kimpton, L. S., Hiorns, J. E., Brook, B., …Johnson, S. R. (2014). The role of inflammation resolution speed in airway smooth muscle mass accumulation in asthma: insight from a theoretical model. PLoS ONE, 9(3), Article e90162. https://doi.org/10.1371/journal.pone.0090162

Despite a large amount of in vitro data, the dynamics of airway smooth muscle (ASM) mass increase in the airways of patients with asthma is not well understood. Here, we present a novel mathematical model that describes qualitatively the growth dynam... Read More about The role of inflammation resolution speed in airway smooth muscle mass accumulation in asthma: insight from a theoretical model.

Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma (2014)
Journal Article
Wain, L. V., Odenthal-Hesse, L., Abujaber, R., Sayers, I., Beardsmore, C., Gaillard, E. A., …Hollox, E. J. (2014). Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma. PLoS ONE, 9(1), Article e84192. https://doi.org/10.1371/journal.pone.0084192

Lung function measures are heritable, predict mortality and are relevant in diagnosis of chronic obstructive pulmonary disease (COPD). COPD and asthma are diseases of the airways with major public health impacts and each have a heritable component. G... Read More about Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma.

Identification of a novel regulatory mechanism for the disease associated protein, uPAR (2014)
Journal Article
Portelli, M. A., Hall, I. P., & Sayers, I. (2014). Identification of a novel regulatory mechanism for the disease associated protein, uPAR. Malta Medical Journal, 26(1), 32-37

Expression quantitative trait loci (eQTLs), as determined through a series of statistical association studies collectively known as genome-wide association (GWA) studies, have provided us with a hypothesis free approach for the investigation into reg... Read More about Identification of a novel regulatory mechanism for the disease associated protein, uPAR.

A randomised trial of ondansetron for the treatment of irritable bowel syndrome with diarrhoea (2013)
Journal Article
Garsed, K., Chernova, J., Hastings, M., Lam, C., Marciani, L., Singh, G., …Spiller, R. C. (2014). A randomised trial of ondansetron for the treatment of irritable bowel syndrome with diarrhoea. Gut, 63(10), 1617-1625. https://doi.org/10.1136/gutjnl-2013-305989

Background: Irritable bowel syndrome with diarrhoea (IBS-D) is particularly debilitating due to urgency and episodic incontinence. Some 5-hydroxytryptamine 3 (5-HT3) receptor antagonists (5-HT3RAs) have proven effective but have serious side effects.... Read More about A randomised trial of ondansetron for the treatment of irritable bowel syndrome with diarrhoea.

The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study (2013)
Journal Article
Donaldson, J. W., McKeever, T. M., Hall, I. P., Hubbard, R., & Fogarty, A. W. (2014). The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study. Thorax, 69(2), 161-167. https://doi.org/10.1136/thoraxjnl-2013-203720

Background Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder of aberrant blood vessel development characterised by arteriovenous malformations. HHT is associated with significant morbidity due to complications inc... Read More about The UK prevalence of hereditary haemorrhagic telangiectasia and its association with sex, socioeconomic status and region of residence: a population-based study.

Pulmonary MRI contrast using Surface Quadrupolar Relaxation (SQUARE) of hyperpolarized 83Kr (2013)
Journal Article
Six, J. S., Hughes-Riley, T., Lilburn, D. M., Dorkes, A. C., Stupic, K. F., Shaw, D. E., …Meersmann, T. (2014). Pulmonary MRI contrast using Surface Quadrupolar Relaxation (SQUARE) of hyperpolarized 83Kr. Magnetic Resonance Imaging, 32(1), 48-53. https://doi.org/10.1016/j.mri.2013.08.007

Hyperpolarized 83Kr has previously been demonstrated to enable MRI contrast that is sensitive to the chemical composition of the surface in a porous model system. Methodological advances have lead to a substantial increase in the 83Kr hyperpolarizati... Read More about Pulmonary MRI contrast using Surface Quadrupolar Relaxation (SQUARE) of hyperpolarized 83Kr.

GSTCD and INTS12 regulation and expression in the human lung (2013)
Journal Article
Obeidat, M., Miller, S., Probert, K., Billington, C. K., Henry, A. P., Hodge, E., …Hall, I. P. (2013). GSTCD and INTS12 regulation and expression in the human lung. PLoS ONE, 8(9), Article e74630. https://doi.org/10.1371/journal.pone.0074630

Genome-Wide Association Study (GWAS) meta-analyses have identified a strong association signal for lung function, which maps to a region on 4q24 containing two oppositely transcribed genes: glutathione S-transferase, C-terminal domain containing (GST... Read More about GSTCD and INTS12 regulation and expression in the human lung.

HTR4 gene structure and altered expression in the developing lung (2013)
Journal Article
Hodge, E., Nelson, C. P., Miller, S., Billington, C. K., Stewart, C. E., Swan, C., …Sayers, I. (2013). HTR4 gene structure and altered expression in the developing lung. Respiratory Research, 14(77), https://doi.org/10.1186/1465-9921-14-77

Background: Meta-analyses of genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) spanning the 5-hydroxytryptamine receptor 4 (5-HT4R) gene (HTR4) associated with lung function. The aims of this study were t... Read More about HTR4 gene structure and altered expression in the developing lung.

Genome-wide association study to identify genetic determinants of severe asthma (2012)
Journal Article
Wan, Y., Shrine, N., Soler Artigas, M., Wain, L., Blakey, J., Moffatt, M., …Hall, I. P. (2012). Genome-wide association study to identify genetic determinants of severe asthma. Thorax, 67(9), https://doi.org/10.1136/thoraxjnl-2011-201262

Background The genetic basis for developing asthma has been extensively studied. However, association studies to date have mostly focused on mild to moderate disease and genetic risk factors for severe asthma remain unclear. Objective To identify co... Read More about Genome-wide association study to identify genetic determinants of severe asthma.

Pharmacogenetics, pharmacogenomics and airway disease (2002)
Journal Article
Hall, I. P. (2002). Pharmacogenetics, pharmacogenomics and airway disease. Respiratory Research, 3(1),

The availability of a draft sequence for the human genome will revolutionise research into airway disease. This review deals with two of the most important areas impinging on the treatment of patients: pharmacogenetics and pharmacogenomics. Considera... Read More about Pharmacogenetics, pharmacogenomics and airway disease.

Interleukin-4 receptor alpha gene variants and allergic disease (2000)
Journal Article
Hall, I. P. (2000). Interleukin-4 receptor alpha gene variants and allergic disease. Respiratory Research, 1(1),

The interleukin-4 (IL-4) signalling cascade has been identified as a pathway potentially important in the development of asthma. Genetic variants within this signalling pathway might contribute to the risk of developing asthma in a given individual.... Read More about Interleukin-4 receptor alpha gene variants and allergic disease.