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 …
Susceptibility to and heterogeneity of COPD are incompletely explained by environmental …
Beyond GWASs: illuminating the dark road from association to function
Genome-wide association studies (GWASs) have enabled the discovery of common genetic
variation contributing to normal and pathological traits and clinical drug responses, but …
variation contributing to normal and pathological traits and clinical drug responses, but …
Characterization of the COPD alveolar niche using single-cell RNA sequencing
Chronic obstructive pulmonary disease (COPD) is a leading cause of death worldwide,
however our understanding of cell specific mechanisms underlying COPD pathobiology …
however our understanding of cell specific mechanisms underlying COPD pathobiology …
Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations
P Sakornsakolpat, D Prokopenko, M Lamontagne… - Nature …, 2019 - nature.com
Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality
worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed …
worldwide. Genetic risk loci provide new insights into disease pathogenesis. We performed …
Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis
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 …
We performed a genetic association study in 15,256 cases and 47,936 controls, with …
Airway epithelial barrier dysfunction in chronic obstructive pulmonary disease: role of cigarette smoke exposure
M Aghapour, P Raee, SJ Moghaddam… - American journal of …, 2018 - atsjournals.org
The epithelial lining of the airway forms the first barrier against environmental insults, such
as inhaled cigarette smoke, which is the primary risk factor for the development of chronic …
as inhaled cigarette smoke, which is the primary risk factor for the development of chronic …
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis
Background The genetic risk factors for susceptibility to chronic obstructive pulmonary
disease (COPD) are still largely unknown. Additional genetic variants are likely to be …
disease (COPD) are still largely unknown. Additional genetic variants are likely to be …
The clinical and genetic features of COPD-asthma overlap syndrome
M Hardin, M Cho, ML McDonald, T Beaty… - European …, 2014 - Eur Respiratory Soc
Individuals with chronic obstructive pulmonary disease (COPD) and asthma are an
important but poorly characterised group. The genetic determinants of COPD and asthma …
important but poorly characterised group. The genetic determinants of COPD and asthma …
The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases
AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …
created a critical need to experimentally validate the disease-associated variants, 90% of …
Hedgehog signal and genetic disorders
N Sasai, M Toriyama, T Kondo - Frontiers in Genetics, 2019 - frontiersin.org
The hedgehog (Hh) family comprises sonic hedgehog (Shh), Indian hedgehog (Ihh), and
desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide …
desert hedgehog (Dhh), which are versatile signaling molecules involved in a wide …