Results 51 to 60 of about 1,240 (187)

Red blood cells from patients with sitosterolemia exhibit impaired membrane lipid composition and distribution and decreased deformability [PDF]

, 2023
Sitosterolemia is a metabolic disorder leading to excessive accumulation of phytosterols. Hemolytic stomatocytosis and macrothrombocytopenia are part of the clinical picture.
Mignolet, Eric, van Wijk, Richard, Cloos, Anne-Sophie, van der Net, Jeroen B, Kleinen, Kelly, Van Der Smissen, Patrick, Tyteca, Donatienne, Rab, Minke AE, Terrasi, Romano, van Oirschot, Brigitte A, Muccioli, Giulio, Koster, Ad, Larondelle, Yvan   +12 more
core   +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

Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis

Journal of Lipid Research, 1998
Sitosterolemia (phytosterolemia) is a rare autosomal recessively inherited disorder that is characterized by premature coronary artery disease, xanthomas, and increased plasma plant sterols and 5α-stanols.
Shailendra B. Patel, Akira Honda, Gerald Salen   +2 more
doaj   +1 more source

A sterol panel for rare lipid disorders: sitosterolemia, cerebrotendinous xanthomatosis and Smith-Lemli-Opitz syndrome. [PDF]

J Lipid Res
Disease-specific sterols accumulate in the blood of patients with several rare lipid disorders. Biochemical measurement of these sterols is important for correct diagnosis and sometimes monitoring of treatment.
Westbye AB, Dizdarevic LL, Dahl SR, Asprusten EA, Bliksrud YT, Sandblom AL, Diczfalusy U, Thorsby PM, Retterstøl K.   +8 more
europepmc   +2 more sources

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

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

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

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

Sitosterolemia in Iberoamerican countries: new cases and phenotype genotype analysis

, 2023
Introduction: Sitosterolemia is an autosomal recessive disorder caused by variations in ABCG5/8 genes and characterized by severely elevated plasma plant sterols, associated with xanthomas and premature cardiovascular disease. The aim of this study is to
Alves, Ana Catarina
core  

Classification and Effect of Correctors on Sitosterolemia-Associated Mutants in ABCG8

, 2022
Objective: To classify mutants of ABCG8 identified in subjects with clinically confirmed Sitosterolemia, a rare form of Familial Hypercholesterolemia distinguished by the accumulation of phytosterols in plasma and tissues and determine the effects of ...
Poole, Brittney
core   +1 more source