Results 81 to 90 of about 1,320 (173)

.BETA.-Sitosterolemia with Generalized Eruptive Xanthomatosis.

Endocrine Journal, 1997
The clinical features of the first case of a patient with sitosterolemia and generalized eruptive xanthomatosis are described. A six-year-old girl with generalized eruption was referred to the lipid clinic because of the high plasma cholesterol levels determined by the enzymatic method.
H, Hidaka, H, Sugiura, T, Nakamura, H, Kojima, M, Fujita, N, Sugie, H, Okabe, Y, Nishio, H, Maegawa, A, Kashiwagi, R, Kikkawa   +10 more
openaire   +3 more sources

ACAT2 and ABCG5/G8 are both required for efficient cholesterol absorption in mice: evidence from thoracic lymph duct cannulation[S]

Journal of Lipid Research, 2012
The metabolic fate of newly absorbed cholesterol and phytosterol is orchestrated through adenosine triphosphate-binding cassette transporter G5 and G8 heterodimer (G5G8), and acyl CoA:cholesterol acyltransferase 2 (ACAT2). We hypothesized that intestinal
Tam M. Nguyen, Janet K. Sawyer, Kathryn L. Kelley, Matthew A. Davis, Carol R. Kent, Lawrence L. Rudel   +5 more
doaj   +1 more source

Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease

Journal of Atherosclerosis and Thrombosis, 2018
Sitosterolemia is a rare inherited disease characterized by increased levels of plant sterols, such as sitosterol. The cause of this disease is ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively) gene mutations. Recent advances in genetics have revealed that the prevalence of subjects with deleterious mutations in
Tada, Hayato, Nohara, Atsushi, Inazu, Akihiro, Sakuma, Nagahiko, Mabuchi, Hiroshi, Kawashiri, Masa-aki   +5 more
openaire   +2 more sources

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

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

, 2023
Anne‐Sophie Cloos, Minke A.E. Rab, Patrick Van Deŕ Smissen, Brigitte A. van Oirschot, Éric Mignolet, Jeroen B. van der Net, Ad Koster, Kelly Kleinen, Yvan Larondelle, Romano Terrasi, Giulio G. Muccioli, Richard van Wijk, Donatienne Tyteca   +12 more
openalex   +1 more source

Tendon xanthomas as indicators of atherosclerotic burden on coronary arteries

Indian Heart Journal, 2013
The presence of tendon xanthomas is an almost certain indicator of familial hypercholesterolemia (FH). They also reflect coronary atherosclerotic burden and therefore must be treated aggressively.
Shivanand Patil, Jayashree Kharge, Vittal Bagi, Rangaraj Ramalingam   +3 more
doaj   +1 more source

SITOSTEROLEMIA – RARE CAUSE OF HYPERCHOLESTEROLEMIA IN CHILD

Journal of Experimental and Molecular Biology, 2019
Sitosterolemia is a rare autosomal recessive disorder caused by mutations in ABCG5 or ABCG8, leading to increased intestinal absorption and to a diminution of the biliary excretion of plant sterols (sitosterol, campesterol, stigmasterol) and cholesterol.
Antoneta Dacia Petroaie
doaj  

Lethal atherosclerosis associated with abnormal plasma and tissue sterol composition in sitosterolemia with xanthomatosis.

Journal of Lipid Research, 1985
Tissue sterol composition was determined in an 18-year-old male with sitosterolemia with xanthomatosis who died suddenly and whose coronary and aortic vessels showed extensive atherosclerosis and, for comparison, in an 18-year-old male with minimal ...
G Salen, I Horak, M Rothkopf, J L Cohen, J Speck, G S Tint, V Shore, B Dayal, T Chen, S Shefer   +9 more
doaj   +1 more source

The rat STSL locus: characterization, chromosomal assignment, and genetic variations in sitosterolemic hypertensive rats

BMC Cardiovascular Disorders, 2003
Background Elevated plant sterol accumulation has been reported in the spontaneously hypertensive rat (SHR), the stroke-prone spontaneously hypertensive rat (SHRSP) and the Wistar-Kyoto (WKY) rat.
Klein Richard, Sato Masao, Egashira Nami, Ikeda Ikuo, Helou Khalil, Lu Kangmo, Lee Mi-Hye, Klett Eric, Pandit Bhaswati, Yu Hongwei, Batta Ashok, Salen Gerald, Patel Shailendra B   +12 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source