Alpha1-Antitrypsin Deficiency
P Strnad, NG McElvaney… - New England Journal of …, 2020 - Mass Medical Soc
Alpha1-Antitrypsin Deficiency AAT is a protease inhibitor targeting neutrophil elastase. It
prevents the destruction of tissue, particularly in the lung, from elastase activity. AAT …
prevents the destruction of tissue, particularly in the lung, from elastase activity. AAT …
The human ATP‐binding cassette (ABC) transporter superfamily
M Dean, K Moitra, R Allikmets - Human mutation, 2022 - Wiley Online Library
The ATP‐binding cassette (ABC) transporter superfamily comprises membrane proteins that
efflux various substrates across extra‐and intracellular membranes. Mutations in ABC genes …
efflux various substrates across extra‐and intracellular membranes. Mutations in ABC genes …
Large-scale integration of the plasma proteome with genetics and disease
E Ferkingstad, P Sulem, BA Atlason… - Nature …, 2021 - nature.com
The plasma proteome can help bridge the gap between the genome and diseases. Here we
describe genome-wide association studies (GWASs) of plasma protein levels measured with …
describe genome-wide association studies (GWASs) of plasma protein levels measured with …
[HTML][HTML] Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary …
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …
[HTML][HTML] Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine
P Schlosser, N Scherer, F Grundner-Culemann… - Nature …, 2023 - nature.com
The kidneys operate at the interface of plasma and urine by clearing molecular waste
products while retaining valuable solutes. Genetic studies of paired plasma and urine …
products while retaining valuable solutes. Genetic studies of paired plasma and urine …
[HTML][HTML] Obesity, type 2 diabetes, lifestyle factors, and risk of gallstone disease: a Mendelian randomization investigation
Background & Aims Obesity, type 2 diabetes, and lifestyle factors (cigarette smoking, alcohol
drinking, and coffee consumption) have been associated with the risk of developing …
drinking, and coffee consumption) have been associated with the risk of developing …
Membrane transporters in drug development and as determinants of precision medicine
A Galetin, KLR Brouwer, D Tweedie… - Nature Reviews Drug …, 2024 - nature.com
The effect of membrane transporters on drug disposition, efficacy and safety is now well
recognized. Since the initial publication from the International Transporter Consortium …
recognized. Since the initial publication from the International Transporter Consortium …
[HTML][HTML] GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements
Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy-specific liver disorder affecting
0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus …
0.5–2% of pregnancies. The majority of cases present in the third trimester with pruritus …
[HTML][HTML] Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics
The research of rare and devastating orphan diseases, such as idiopathic pulmonary
fibrosis (IPF) has been limited by the rarity of the disease itself. The prognosis is poor—the …
fibrosis (IPF) has been limited by the rarity of the disease itself. The prognosis is poor—the …
[HTML][HTML] Gallstone disease, diabetes, calcium, triglycerides, smoking and alcohol consumption and pancreatitis risk: Mendelian randomization study
S Yuan, EL Giovannucci, SC Larsson - NPJ genomic medicine, 2021 - nature.com
We conducted a Mendelian randomization study to determine the potential causal
associations of gallstone disease, diabetes, serum calcium, triglyceride levels, smoking and …
associations of gallstone disease, diabetes, serum calcium, triglyceride levels, smoking and …