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 …

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 …

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 …

[HTML][HTML] Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary …

N Shrine, AG Izquierdo, J Chen, R Packer, RJ Hall… - Nature …, 2023 - nature.com
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
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 …

[HTML][HTML] Obesity, type 2 diabetes, lifestyle factors, and risk of gallstone disease: a Mendelian randomization investigation

S Yuan, D Gill, EL Giovannucci, SC Larsson - Clinical gastroenterology and …, 2022 - Elsevier
Background & Aims Obesity, type 2 diabetes, and lifestyle factors (cigarette smoking, alcohol
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 …

[HTML][HTML] GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

PH Dixon, AP Levine, I Cebola, MMY Chan… - Nature …, 2022 - nature.com
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 …

[HTML][HTML] Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics

JJ Partanen, P Häppölä, W Zhou, AA Lehisto, M Ainola… - Cell genomics, 2022 - cell.com
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 …

[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 …