Results 41 to 50 of about 3,582 (133)

Oat β‐Glucan and Galactooligosaccharides Influence Gallstone Formation by Modulating the Gut Microbiota, Particularly Desulfovibrionales

iMetaMed, Volume 2, Issue 1, March 2026.
Oat β‐glucan and galactooligosaccharides influence the formation of gallstones by modulating the gut microbiota, particularly the abundance of Desulfovibrionales. The primary mechanism involves metabolic byproducts associated with Desulfovibrionales inhibiting hepatic bile acid synthesis via both the hepatic FXR–SHP and intestinal FXR–FGF15 signaling ...
Liang Tian, Yanyan Lin, Ping Yue, Long Gao, Leiqing Wang, Chongfei Huang, Jinyu Zhao, Ningzu Jiang, Jiahui xi, Haidong Ma, Zhen Liu, Ruyang Zhong, Wenkang Fu, Ningning Mi, Mingzhen Bai, Bodong Zhang, Lunzhi Dai, Jiang Li, Hu Chen, Jinqiu Yuan, Wenbo Meng   +20 more
wiley   +1 more source

A study on UGT1A1 and ABCG8 gene polymorphism: meta-analysis and bioinformatics approach in the etiology of gallstone disease

Egyptian Journal of Medical Human Genetics
Background Gallstone disease (GSD) is a prevalent chronic hepatobiliary condition characterized by impaired metabolism of cholesterol, bilirubin, and bile acids.
K. K. Shahaana Shireen, S. Anu Aarthi, D. Sylvia Nithila Illavarasi, Sanjana Murali, Nandini Krishnamurthy, R. B. Devi Krishna, A. Jagadesh, Jayanthi Venkataraman, Andrea Mary Francis   +8 more
doaj   +1 more source

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation

Frontiers in Cardiovascular Medicine, 2022
Sitosterolemia (OMIM ##210250), also known as phytosterolemia, is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette subfamily G member 5 (ABCG5) or member 8 (ABCG8) genes.
Ming-fang Shen, Ming-fang Shen, Ya-nan Hu, Wei-xiang Chen, Wei-xiang Chen, Li-sheng Liao, Li-sheng Liao, Min Wu, Qiu-yan Wu, Jian-hui Zhang, Yan-ping Zhang, Jie-wei Luo, Jie-wei Luo, Xin-fu Lin, Xin-fu Lin   +14 more
doaj   +1 more source

Sterol Metabolism in Ovariectomized Rats: Potential Roles of Campesterol and 4β‐Hydroxycholesterol in Osteoporosis

Lipids, Volume 61, Issue 1, Page 151-162, January 2026.
ABSTRACT Osteoporosis is characterized by low bone mass and microarchitectural deterioration of bone tissue. Lipid metabolism disorders may contribute to osteoporosis in postmenopausal women. Phytosterols and oxysterols (OC) are involved in lipid metabolism.
Wenzhao He, Sayuri Eguchi, Sen Wang, Yasutake Tanaka, Masao Sato   +4 more
wiley   +1 more source

Features of chinese patients with sitosterolemia

Lipids in Health and Disease, 2022
Background Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes.
Zhizi Zhou, Xueying Su, Yanna Cai, Tzer Hwu Ting, Wen Zhang, Yunting Lin, Aijing Xu, Xiaojian Mao, Chunhua Zeng, Li Liu, Xiuzhen Li   +10 more
doaj   +1 more source

A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
This study reports a rare case of bone marrow failure syndrome type 1 (BMFS1) caused by a novel de novo splicing mutation (c.1502+1G>A) in the SRP72 gene. The 6‐year‐old patient presented with aplastic anemia and pancytopenia. Genetic analysis identified the mutation, which was absent in both parents, confirming its de novo origin.
Wang Xiangwen, Zhang Duo, Hao Wenjing, Hou Hui   +3 more
wiley   +1 more source

A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans

BMC Medical Genetics, 2006
Background Sitosterolemia is an autosomal recessive disorder that maps to the sitosterolemia locus, STSL, on human chromosome 2p21. Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia. ABCG5 and ABCG8 are thought to
Hazard Starr E, Ahn Gwang-Sook, Pandit Bhaswati, Gordon Derek, Patel Shailendra B   +4 more
doaj   +1 more source

Dietary xenosterols lead to infertility and loss of abdominal adipose tissue in sterolin-deficient mice[S]

Journal of Lipid Research, 2013
The investigation of the human disease sitosterolemia (MIM 210250) has shed light not only on the pathways by which dietary sterols may traffic but also on how the mammalian body rids itself of cholesterol and defends against xenosterols.
Curzio Solca, G. Stephen Tint, Shailendra B. Patel   +2 more
doaj   +1 more source

Inhibition of Intestinal Cholesterol Absorption by Ocimum sanctum L. Flower Aqueous Extract via Changing Physicochemical Properties of Cholesterol Micelles

Journal of Food Biochemistry, Volume 2026, Issue 1, 2026.
Hyperlipidemia is recognized as a major contributor to chronic noncommunicable diseases. The primary strategy regarding hyperlipidemia prevention is involved in the blockade of intestinal cholesterol absorption. Ezetimibe (Eze) is the sole prescribed drug that targets Niemann‐Pick C1 Like 1 (NPC1L1), a key cholesterol transporter, resulting in reduced ...
Jakkapong Inchai, Atcharaporn Ontawong, Kongkiat Trisuwan, Kornwalai Tunkaew, Pannita Holasut, Thanthakan Saithong, Thippawan Yasanga, Chutima S. Vaddhanaphuti, Anupama Bose   +8 more
wiley   +1 more source

Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity

Journal of Lipid Research, 2004
The roles of polymorphisms of the sitosterolemia genes ABCG5 and ABCG8 in the regulation of cholesterol metabolism and insulin sensitivity were studied in mildly hypercholesterolemic noncoronary subjects (n = 263, 144 men and 119 women) divided into ...
Helena Gylling, Maarit Hallikainen, Jussi Pihlajamäki, Jyrki Ågren, Markku Laakso, Radhakrishnan A. Rajaratnam, Rainer Rauramaa, Tatu A. Miettinen   +7 more
doaj   +1 more source