Results 61 to 70 of about 3,582 (133)
Role of ABCG1 and other ABCG family members in lipid metabolism
The molecular cloning and identification of mutations in ATP-binding cassette transporters in hereditary diseases have greatly expanded our knowledge of the normal physiology of intracellular lipid transport processes.
Gerd Schmitz +2 more
doaj +1 more source
Gene variants and clinical characteristics of children with sitosterolemia
Objective To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.
Rui Gu +10 more
doaj +1 more source
This experiment was designed to evaluate the potential for dietary alfalfa saponins (AS) to influence cholesterol (Ch) concentrations and the mRNA expressions of the ATP-binding cassette (ABC) that concludes transporters G5 (ABCG5) and G8 (ABCG8) in the ...
Wenna Fan +6 more
doaj +1 more source
Background Gallstones are abnormal lumps in the gallbladder or biliary tract due impaired cholesterol, bilirubin, or bile salt metabolism. The Adenosine triphosphate binding cassette transporter genes G5 and G8 (ABCG5, ABCG8) are two half transporters ...
Menna A. Hassan +4 more
doaj +1 more source
Sitosterolemia with double variant in ABCG8 gene: a case report
Introduction Sitosterolemia is an autosomal recessive genetic disorder characterized by increased intestinal absorption of plant sterols. It is caused by pathogenic variants in the ABCG5 or ABCG8 genes, which encode subunits of transporters belonging to ...
Sara Isabel Noreña Gómez +4 more
doaj +1 more source
Novel ABCG8 Mutation in Pediatric Sitosterolemia: A Case Report of Siblings with Hemolytic Anemia. [PDF]
Saha S, Dolai TK, Ghosh K, Jajodia E.
europepmc +1 more source

