Results 51 to 60 of about 1,320 (173)

Genetic basis of sitosterolemia [PDF]

Current Opinion in Lipidology, 2001
The molecular mechanisms regulating the amount of dietary cholesterol retained by the body, as well as the body's ability to exclude other dietary sterols selectively, are poorly understood. An average Western diet will contain approximately 250-500 mg of dietary cholesterol and approximately 200-400 mg of non-cholesterol sterols, of which plant ...
M H, Lee, K, Lu, S B, Patel
openaire   +2 more sources

Thematic Review Series: Lipid Transfer Proteins ABCG5 and ABCG8: more than a defense against xenosterols

Journal of Lipid Research, 2018
The elucidation of the molecular basis of the rare disease, sitosterolemia, has revolutionized our mechanistic understanding of how dietary sterols are excreted and how cholesterol is eliminated from the body.
Shailendra B. Patel, Gregory A. Graf, Ryan E. Temel   +2 more
doaj   +1 more source

Case Report: Next Generation Sequencing in Clinical Practice–A Real Tool for Ending the Protracted Diagnostic Odyssey

Frontiers in Cardiovascular Medicine, 2022
We reported a case of sitosterolemia, which is a rare genetic disease, characterized by increased plant sterol absorption and great heterogeneity of clinical manifestations.
Alena S. Limonova, Alexandra I. Ershova, Alexey N. Meshkov, Anna V. Kiseleva, Mikhail G. Divashuk, Mikhail G. Divashuk, Marina V. Kurkina, Oxana M. Drapkina   +7 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

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

Plant Sterols, Stanols, and Sitosterolemia [PDF]

Journal of AOAC INTERNATIONAL, 2015
Abstract Phytosterolemia (sitosterolemia) is a rare autosomal recessive sterol storage disease caused by mutations in either of the adenosine triphosphate (ATP) binding cassette transporter genes; (ABC) G5 or ABCG8, leading to impaired elimination of plant sterols and stanols, with their increased accumulation in the blood and tissues ...
Bridget O, Ajagbe, Rgia A, Othman, Semone B, Myrie   +2 more
openaire   +2 more sources

Premature Acute Myocardial Infarction in a Young Patient With Sitosterolemia

CJC Open, 2021
Sitosterolemia is a rare, inherited, autosomal recessive disorder of lipid metabolism characterized by increased levels of plant sterols, such as sitosterol and campesterol, xanthomas, and accelerated atherosclerosis.
Yoshihiro Yamada, MD, PhD, Keiki Sugi, MD, PhD, Yodo Gatate, MD, Takaaki Senbonmatsu, MD, PhD, Ikuo Inoue, MD, PhD, Kenji Fukushima, MD, PhD, Atsushi Iguchi, MD, PhD, Hiroyuki Nakajima, MD, PhD, Toshihiro Muramatsu, MD, PhD, Shintaro Nakano, MD, PhD, Hayato Tada, MD, PhD   +10 more
doaj   +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

Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy

Frontiers in Genetics, 2021
To investigate refractory hypercholesterolemia, a female patient and relatives were subjected to whole-genome sequencing. The proband was found to have compound heterozygous substitutions p. Arg446Gln and c.1118+3G>T in ABCG5, one of two genes causing
Libin Deng, Libin Deng, Libin Deng, Jingsong Xu, Wei Chen, Shicheng Guo, Robert D. Steiner, Qi Chen, Zhujun Cheng, Yanmei Xu, Bei Yao, Xiaoyan Li, Xiaozhong Wang, Keyu Deng, Steven J. Schrodi, Dake Zhang, Hongbo Xin   +16 more
doaj   +1 more source

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