Results 61 to 70 of about 1,320 (173)
Sitosterolemia caused by mutations in the ABCG8 gene. First case report in Colombia
Revista de la Facultad de Medicina, 2023 Introduction: Sitosterolemia is an autosomal recessive disease caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by reduced excretion of plant sterols and cholesterol, leading to the development of hypercholesterolemia, xanthomas, and ...
Harold Felipe Saavedra-López +2 more
doaj +1 more source
Sitosterolemia and platelet abnormality
Japanese Journal of Thrombosis and Hemostasis, 2017 Taisuke Kanaji
openalex +3 more sources
The Concise Guide to PHARMACOLOGY 2025/26: Transporters
British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +28 more
wiley +1 more source
Diagnosis and Management of Sitosterolemia 2021
Journal of Atherosclerosis and Thrombosis, 2021 Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in ATP-binding cassette (ABC) subfamily G member 5 or member 8 (ABCG5 or ABCG8, respectively), both of which play important roles in selective excretion of plant sterols ...
Tada, Hayato +14 more
openaire +3 more sources
BAREing it all: the adoption of LXR and FXR and their roles in lipid homeostasis
Journal of Lipid Research, 2002 During the last three years there have been a plethora of publications on the liver X-activated receptors (LXRα, NR1H3, and LXRβ, NR1H2), the farnesoid X-activated receptor (FXR, NR1H4), and the pregnane X receptor (PXR, NR1I2) and the role these nuclear
Peter A. Edwards +2 more
doaj +1 more source
Investigating sitosterolemia to understand lipid physiology [PDF]
Clinical Lipidology, 2013 The cholesterol molecule is at the center of the pathophysiology of many vascular diseases. Whole-body cholesterol pools are maintained by a balance of endogenous synthesis, dietary absorption and elimination from our bodies. While the cellular aspects of cholesterol metabolism received significant impetus from the seminal work of Goldstein and Brown ...
T Hang, Nghiem-Rao, Shailendra B, Patel
openaire +2 more sources
A Clinical Case of Probable Sitosterolemia. [PDF]
Int J Mol SciSitosterolemia is a rare genetic lipid disorder characterized by elevated plant sterols in the serum. A 24-year-old Japanese woman was referred to our hospital due to a high serum low-density lipoprotein cholesterol (LDL-C) level of 332 mg/dL. At first, she was suspected to suffer from familial hypercholesterolemia, and thus received lipid-lowering ...
Terasaki M, Izumi M, Yamagishi SI.
europepmc +3 more sources
Clinical Case Reports, Volume 12, Issue 2, February 2024.Clinical impact of pharmacotherapy in phenotypic HoFH with large‐scale CNVs deletion in heterozygotes. Key Clinical Message Recent data reveal phenotypic HoFH patients may be responsive to PCSK9 inhibitors, challenging prior assumptions. Genetic testing advancements now more accurately forecast patient responses to these therapies, improving treatment ...
Ryosuke Tani +5 more
wiley +1 more source
Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis.
Journal of Lipid Research, 1990 Plasma sterol levels in a family of sitosterolemia and xanthomatosis were determined by a high performance liquid chromatography. Three affected siblings manifested marked xanthomatosis including subcutaneous soft tissues and generalized atherosclerosis.
H Hidaka +9 more
doaj +1 more source