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 …

Bridging the splicing gap in human genetics with long-read RNA sequencing: finding the protein isoform drivers of disease

PJ Castaldi, A Abood, CR Farber… - Human Molecular …, 2022 - academic.oup.com
Aberrant splicing underlies many human diseases, including cancer, cardiovascular
diseases and neurological disorders. Genome-wide mapping of splicing quantitative trait …

Exploiting the GTEx resources to decipher the mechanisms at GWAS loci

AN Barbeira, R Bonazzola, ER Gamazon, Y Liang… - Genome biology, 2021 - Springer
The resources generated by the GTEx consortium offer unprecedented opportunities to
advance our understanding of the biology of human diseases. Here, we present an in-depth …

Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney

JM Eales, X Jiang, X Xu, S Saluja, A Akbarov… - Nature …, 2021 - nature.com
The kidney is an organ of key relevance to blood pressure (BP) regulation, hypertension and
antihypertensive treatment. However, genetically mediated renal mechanisms underlying …

Right and left-sided colon cancers-specificity of molecular mechanisms in tumorigenesis and progression

K Mukund, N Syulyukina, S Ramamoorthy… - BMC cancer, 2020 - Springer
Background Given the differences in embryonic origin, vascular and nervous supplies,
microbiotic burden, and main physiological functions of left and right colons, tumor location …

FBXO38 regulates macrophage polarization to control the development of cancer and colitis

X Zheng, Q Jiang, M Han, F Ye, M Wang… - Cellular & Molecular …, 2023 - nature.com
Macrophages are highly plastic cells that differentially regulate multiple pathological
conditions, including cancer and autoimmune diseases. In response to various stimuli …

Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits

SM Brotman, CK Raulerson, S Vadlamudi… - The American Journal of …, 2022 - cell.com
Alternate splicing events can create isoforms that alter gene function, and genetic variants
associated with alternate gene isoforms may reveal molecular mechanisms of disease. We …

Role of β2-adrenergic receptors in chronic obstructive pulmonary disease

A Yang, G Yu, Y Wu, H Wang - Life Sciences, 2021 - Elsevier
Abstract Beta-2 adrenergic receptors (β2-ARs) have important roles in the pathogenesis and
treatment of chronic obstructive pulmonary disease (COPD). In recent years, progress has …

Instance-wise feature grouping

A Masoomi, C Wu, T Zhao, Z Wang… - Advances in Neural …, 2020 - proceedings.neurips.cc
In many learning problems, the domain scientist is often interested in discovering the groups
of features that are redundant and are important for classification. Moreover, the features that …

Analysis of pathogenic pseudoexons reveals novel mechanisms driving cryptic splicing

NP Keegan, SD Wilton, S Fletcher - Frontiers in genetics, 2022 - frontiersin.org
Understanding pre-mRNA splicing is crucial to accurately diagnosing and treating genetic
diseases. However, mutations that alter splicing can exert highly diverse effects. Of all the …