Results 51 to 60 of about 3,582 (133)

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

Selective sterol accumulation in ABCG5/ABCG8-deficient mice

Journal of Lipid Research, 2004
The ATP binding cassette (ABC) transporters ABCG5 and ABCG8 limit intestinal absorption and promote biliary secretion of neutral sterols. Mutations in either gene cause sitosterolemia, a rare recessive disease in which plasma and tissue levels of several
Liqing Yu, Klaus von Bergmann, Dieter Lutjohann, Helen H. Hobbs, Jonathan C. Cohen   +4 more
doaj   +1 more source

Cordyceps sinensis (CS) Alleviates Chronic Obstructive Pulmonary Disease Symptoms (COPD) by Targeting Inflammation, Apoptosis, and Oxidative Stress Through Ingredient–Gene–Disease Interaction

Immunity, Inflammation and Disease, Volume 13, Issue 12, December 2025.
Our findings indicate that Cordyceps Sinensis (CS) alleviates COPD symptoms by inhibiting inflammation and oxidative stress, with key biomarkers such as interleukins (ILs), tumor necrosis factor (TNF), and reactive oxygen species (ROS) identified. Activating autophagy serves as a protective mechanism against COPD development induced by oxidative stress.
Zirui Zang, Yuhan Kong, Qi Kong
wiley   +1 more source

Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8

Journal of Lipid Research, 2002
The plasma concentrations of cholesterol precursor sterols and plant sterols vary over a 5- to 10-fold range among normolipidemic individuals, and provide indices of the relative rates of cholesterol synthesis and fractional absorption.
Knut E. Berge, Klaus von Bergmann, Dieter Lutjohann, Rudy Guerra, Scott M. Grundy, Helen H. Hobbs, Jonathan C. Cohen   +6 more
doaj   +1 more source

Functional and Transcriptional Disruption of Hepatic ABC Transporters by Environmentally Relevant Short‐Chain Per‐ and Polyfluoroalkyl Substances (PFAS)

Journal of Biochemical and Molecular Toxicology, Volume 39, Issue 12, December 2025.
Low‐dose short‐chain PFAS exposures enhance hepatic ABC transporter activity and expression, revealing that environmentally relevant concentrations can reprogram xenobiotic transport pathways and potentially influence drug metabolism, bile acid handling, and lipid homeostasis, highlighting a molecular link between chronic PFAS exposure and altered ...
Gracen E. Collier, Ramon Lavado
wiley   +1 more source

PPARγ overexpression regulates cholesterol metabolism in human L02 hepatocytes

Journal of Pharmacological Sciences, 2019
Peroxisome proliferator-activator receptor (PPAR) γ is a nuclear hormone receptor that regulates glucose homeostasis, lipid metabolism, and adipocyte function. It has been shown that activation of PPARγ can reduce the incidence of gallstone.
Tao Han, Yangge Lv, Shijia Wang, Tao Hu, Hao Hong, Zan Fu   +5 more
doaj   +1 more source

Association of maternal biliary disease with hepatopancreatobiliary morbidity in offspring

Journal of Pediatric Gastroenterology and Nutrition, Volume 81, Issue 6, Page 1422-1430, December 2025.
Abstract Objectives Maternal biliary disease is common, but the link with offspring hepatopancreatobiliary disease has not been studied. We assessed the association between maternal biliary disease and pediatric hepatopancreatobiliary morbidity. Methods We conducted a retrospective cohort study of 1,271,864 children born between 2006 and 2022 in Quebec,
Nathalie Auger, Angela Magri, Sarit Kang‐Auger, Gabrielle Jutras, Jessica Healy‐Profitós, Marianne Bilodeau‐Bertrand, Gabriel Côté‐Corriveau   +6 more
wiley   +1 more source

Effect of physical activity on prevention and treatment of atherosclerosis: focus on activity of ABCG5 and ABCG8 genes

مجله دانشگاه علوم پزشکی گرگان, 2019
Atherosclerosis which is the result of cholesterol deposit in coronary arteries is the main cause of morbidity and mortality, worldwide. Reverse cholesterol transport (RCT) is a process that causes efflux of excess cholesterol in vessels layers and ...
Mohsen Jafari
doaj  

A Comprehensive Review on Key Chemical Constituents of Indian Pulses and Their Multifaceted Health Benefits in a Global Context

Legume Science, Volume 7, Issue 4, December 2025.
ABSTRACT Pulses are edible seeds of legume plants, but they are distinct from legumes because they are dried seeds before consumption. Because of their economic value and high nutritional content, pulses are integral to diets worldwide. Various pulses such as Macrotyloma uniflorum (horse gram), Glycine max (soybeans), Pisum sativum (field peas), Lens ...
Preeti Semwal, Shankar Gupta, Chahat, Gaurav Joshi, Muhammad Wahajuddin, Bhupinder Kumar   +5 more
wiley   +1 more source

Heterozygous familial hypercholesterolaemia in a pair of identical twins: a case report and updated review

BMC Pediatrics, 2019
Background Familial hypercholesterolaemia (FH) is the most common inherited metabolic disease with an autosomal dominant mode of inheritance. It is characterised by raised serum levels of total cholesterol (TC) and low-density lipoprotein cholesterol ...
Noor Shafina Mohd Nor, Alyaa Mahmood Al-Khateeb, Yung-An Chua, Noor Alicezah Mohd Kasim, Hapizah Mohd Nawawi   +4 more
doaj   +1 more source