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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 …
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 …
Large-scale integration of the plasma proteome with genetics and disease
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 …
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
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 …
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 …
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 …
[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 develo** …
drinking, and coffee consumption) have been associated with the risk of develo** …
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] Gallstones, cholecystectomy, and kidney cancer: observational and mendelian randomization results based on large cohorts
E Kharazmi, D Scherer, F Boekstegers, Q Liang… - Gastroenterology, 2023 - Elsevier
Background & Aims Gallstones (cholelithiasis) constitute a major health burden with high
costs related to surgical removal of the gallbladder (cholecystectomy), generally indicated …
costs related to surgical removal of the gallbladder (cholecystectomy), generally indicated …
Recent advances, novel targets and treatments for cholelithiasis; a narrative review
E Swarne, MS Srikanth, A Shreyas, S Desai… - European journal of …, 2021 - Elsevier
Cholelithiasis is a common and frequent condition all over the world with a high prevalence
rate in western countries. Individuals with cholesterol gallstone disease experience intense …
rate in western countries. Individuals with cholesterol gallstone disease experience intense …