Genetics of chronic obstructive pulmonary disease: understanding the pathobiology and heterogeneity of a complex disorder

MH Cho, BD Hobbs, EK Silverman - The Lancet Respiratory …, 2022 - thelancet.com
Chronic obstructive pulmonary disease (COPD) is a deadly and highly morbid disease.
Susceptibility to and heterogeneity of COPD are incompletely explained by environmental …

[HTML][HTML] Surfactant protein D in respiratory and non-respiratory diseases

GL Sorensen - Frontiers in medicine, 2018 - frontiersin.org
Surfactant protein D (SP-D) is a multimeric collectin that is involved in innate immune
defense and expressed in pulmonary, as well as non-pulmonary, epithelia. SP-D exerts …

Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis

BD Hobbs, K De Jong, M Lamontagne, Y Bossé… - Nature …, 2017 - nature.com
Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide.
We performed a genetic association study in 15,256 cases and 47,936 controls, with …

Lessons from ECLIPSE: a review of COPD biomarkers

R Faner, R Tal-Singer, JH Riley, B Celli, J Vestbo… - Thorax, 2014 - thorax.bmj.com
The Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points
(ECLIPSE) study was a large 3-year observational controlled multicentre international study …

COPD: time to improve its taxonomy?

BR Celli, A Agustí - ERJ open research, 2018 - Eur Respiratory Soc
Due to well-conducted epidemiological studies and advances in genetics, molecular
biology, translational research, the advent of computed tomography of the lungs and …

Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease

DK Kim, MH Cho, CP Hersh, DA Lomas… - American journal of …, 2012 - atsjournals.org
Rationale: A genome-wide association study (GWAS) for circulating chronic obstructive
pulmonary disease (COPD) biomarkers could identify genetic determinants of biomarker …

[HTML][HTML] Pathways to disease from natural variations in human cytoplasmic tRNAs

JT Lant, MD Berg, IU Heinemann, CJ Brandl… - Journal of Biological …, 2019 - ASBMB
Perfectly accurate translation of mRNA into protein is not a prerequisite for life. Resulting
from errors in protein synthesis, mistranslation occurs in all cells, including human cells. The …

Updates on the COPD gene list

Y Bossé - International journal of chronic obstructive pulmonary …, 2012 - Taylor & Francis
A genetic contribution to develop chronic obstructive pulmonary disease (COPD) is well
established. However, the specific genes responsible for enhanced risk or host differences …

Timing during translation matters: synonymous mutations in human pathologies influence protein folding and function

R Rauscher, Z Ignatova - Biochemical Society Transactions, 2018 - portlandpress.com
Ribosomes translate mRNAs with non-uniform speed. Translation velocity patterns are a
conserved feature of mRNA and have evolved to fine-tune protein folding, expression and …

[HTML][HTML] Genetic variant associations of human SP-A and SP-D with acute and chronic lung injury

P Silveyra, J Floros - Frontiers in bioscience: a journal and virtual …, 2012 - ncbi.nlm.nih.gov
Pulmonary surfactant, a lipoprotein complex, maintains alveolar integrity and plays an
important role in lung host defense, and control of inflammation. Altered inflammatory …