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Cross talk between LAM cells and fibroblasts may influence alveolar epithelial cell behavior in lymphangioleiomyomatosis (2022)
Journal Article
Clements, D., Miller, S., Babaei-Jadidi, R., Adam, M., Potter, S. S., & Johnson, S. R. (2022). Cross talk between LAM cells and fibroblasts may influence alveolar epithelial cell behavior in lymphangioleiomyomatosis. AJP - Lung Cellular and Molecular Physiology, 322(2), L283-L293. https://doi.org/10.1152/AJPLUNG.00351.2021

Lymphangioleiomyomatosis (LAM) is a female-specific cystic lung disease in which tuberous sclerosis complex 2 (TSC2)-deficient LAM cells, LAM-associated fibroblasts (LAFs), and other cell types infiltrate the lungs. LAM lesions can be associated with... Read More about Cross talk between LAM cells and fibroblasts may influence alveolar epithelial cell behavior in lymphangioleiomyomatosis.

Mast Cell Tryptase Release Contributes to Disease Progression in Lymphangioleiomyomatosis (2021)
Journal Article
Babaei-Jadidi, R., Dongre, A., Miller, S., Castellanos Uribe, M., Stewart, I. D., Thompson, Z. M., …Johnson, S. R. (2021). Mast Cell Tryptase Release Contributes to Disease Progression in Lymphangioleiomyomatosis. American Journal of Respiratory and Critical Care Medicine, 204(4), 431-444. https://doi.org/10.1164/rccm.202007-2854OC

Rationale: Lymphangioleiomyomatosis (LAM) is a multisystem disease that causes lung cysts and respiratory failure. Loss of TSC (tuberous sclerosis complex) gene function results in a clone of “LAM cells” with dysregulated mTOR (mechanistic target of... Read More about Mast Cell Tryptase Release Contributes to Disease Progression in Lymphangioleiomyomatosis.

Machine learning can predict disease manifestations and outcomes in lymphangioleiomyomatosis (2020)
Journal Article
Chernbumroong, S., Johnson, J., Gupta, N., Miller, S., Mccormack, F. X., Garibaldi, J. M., & Johnson, S. R. (2021). Machine learning can predict disease manifestations and outcomes in lymphangioleiomyomatosis. European Respiratory Journal, 57(6), Article 2003036. https://doi.org/10.1183/13993003.03036-2020

Background: Lymphangioleiomyomatosis (LAM) is a rare multisystem disease with variable clinical manifestations and differing rates of progression that make management decisions and giving prognostic advice difficult. We used machine learning to ident... Read More about Machine learning can predict disease manifestations and outcomes in lymphangioleiomyomatosis.

The vitamin D binding protein axis modifies disease severity in lymphangioleiomyomatosis (2018)
Journal Article
Miller, S., Coveney, C., Johnson, J., Farmaki, A. E., Gupta, N., Tobin, M. D., …Johnson, S. R. (2018). The vitamin D binding protein axis modifies disease severity in lymphangioleiomyomatosis. European Respiratory Journal, 52(5), Article 1801074. https://doi.org/10.1183/13993003.00951-2018

Background: Lymphangioleiomyomatosis (LAM) is a rare disease of women. Decline in lung function is variable making appropriate targeting of therapy difficult. We used unbiased serum proteomics to identify markers associated with outcome in LAM.
Meth... Read More about The vitamin D binding protein axis modifies disease severity in lymphangioleiomyomatosis.

Lung function response and side effects to rapamycin for lymphangioleiomyomatosis: a prospective national cohort study (2017)
Journal Article
Bee, J., Fuller, S., Miller, S., & Johnson, S. R. (2018). Lung function response and side effects to rapamycin for lymphangioleiomyomatosis: a prospective national cohort study. Thorax, 73(4), 369-375. https://doi.org/10.1136/thoraxjnl-2017-210872

Rationale

Mechanistic target of rapamycin inhibitors reduce loss of lung function in lymphangioleiomyomatosis (LAM), although their benefit varies between individuals. We examined lung function response and side effects to rapamycin in a national... Read More about Lung function response and side effects to rapamycin for lymphangioleiomyomatosis: a prospective national cohort study.

The Ser82 RAGE Variant Affects Lung Function and Serum RAGE in Smokers and sRAGE Production In Vitro (2016)
Journal Article
Miller, S., Henry, A. P., Hodge, E., Kheirallah, A. K., Billington, C. K., Rimington, T. L., …Sayers, I. (2016). The Ser82 RAGE Variant Affects Lung Function and Serum RAGE in Smokers and sRAGE Production In Vitro. PLoS ONE, 11(10), Article e0164041. https://doi.org/10.1371/journal.pone.0164041

Introduction

Genome-Wide Association Studies have identified associations between lung function measures and Chronic Obstructive Pulmonary Disease (COPD) and chromosome region 6p21 containing the gene for the Advanced Glycation End Product Recepto... Read More about The Ser82 RAGE Variant Affects Lung Function and Serum RAGE in Smokers and sRAGE Production In Vitro.

Genes associated with polymorphic variants predicting lung function are differentially expressed during human lung development (2016)
Journal Article
Miller, S., Melén, E., Merid, S. K., Hall, I. P., & Sayers, I. (in press). Genes associated with polymorphic variants predicting lung function are differentially expressed during human lung development. Respiratory Research, 17(95), https://doi.org/10.1186/s12931-016-0410-z

Background
Recent meta-analyses of genome-wide association studies have identified single nucleotide polymorphisms (SNPs) within/near 54 genes associated with lung function measures. Current understanding of the contribution of these genes to human... Read More about Genes associated with polymorphic variants predicting lung function are differentially expressed during human lung development.

Translating lung function genome-wide association study (GWAS) findings: new insights for lung biology (2016)
Journal Article
Kheirallah, A. K., Miller, S., Hall, I. P., & Sayers, I. (2016). Translating lung function genome-wide association study (GWAS) findings: new insights for lung biology. Current Advances in Genetics and Molecular Biology, 93, https://doi.org/10.1016/bs.adgen.2015.12.002

Chronic respiratory diseases are a major cause of worldwide mortality and morbidity. Although hereditary severe deficiency of α1 antitrypsin (A1AD) has been established to cause emphysema, A1AD accounts for only ∼1% of Chronic Obstructive Pulmonary D... Read More about Translating lung function genome-wide association study (GWAS) findings: new insights for lung biology.

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation (2015)
Journal Article
Artigas, M. S., Wain, L. V., Miller, S., Kheirallah, A. K., Huffman, J. E., Ntalla, I., Shrine, N., Obeidat, M., Trochet, H., McArdle, W. L., Alves, A. C., Hui, J., Zhao, J. H., Joshi, P. K., Teumer, A., Albrecht, E., Imboden, M., Rawal, R., Lopez, L. M., Marten, J., …Tobin, M. D. (2015). Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation. Nature Communications, 6, 1-12. https://doi.org/10.1038/ncomms9658

Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC... Read More about Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.

Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank (2015)
Journal Article
Wain, L. V., Shrine, N., Miller, S., Jackson, V. E., Ntalla, I., Artigas, M. S., Billington, C. K., Kheirallah, A. K., Allen, R., Cook, J. P., Probert, K., Obeidat, M., Bossé, Y., Hao, K., Postma, D. S., Paré, P. D., Ramasamy, A., Mägi, R., Mihailov, E., Reinmaa, E., …Hall, I. P. (2015). Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank. Lancet Respiratory Medicine, 3(10), https://doi.org/10.1016/S2213-2600%2815%2900283-0

Background

Understanding the genetic basis of airflow obstruction and smoking behaviour is key to determining the pathophysiology of chronic obstructive pulmonary disease (COPD). We used UK Biobank data to study the genetic causes of smoking behav... Read More about Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

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., Malarstig, A., Henry, A. P., Gowland, C., Melén, E., Hall, I. P., & 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.