Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations on either the ABCG5 or ABCG8 subunit cause Sitosterolemia, a rare genetic disorder.
|
31654053 |
2019 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present the first case of sitosterolemia caused by double heterozygous mutations in adenosine triphosphate-binding cassette subfamily G members 5 and 8 (ABCG5 and ABCG8) genes.
|
30007774 |
2019 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Background Sitosterolemia (STSL) is a recessive inherited disorder caused by pathogenic variants in the ABCG5 and ABCG8 genes.
|
28696550 |
2017 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.
|
28739549 |
2017 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.
|
28739549 |
2017 |
Sitosterolemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this regard, ABC transporters, such as ABCA1, ABCG5 and ABCG8, were initially found to be responsible for genetically-inherited syndromes like Tangier diseases and sitosterolemia.
|
28383515 |
2017 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sitosterolemia is a recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8.
|
28521186 |
2017 |
Sitosterolemia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital macrothrombocytopenia is a heterogeneous disorder in India.
|
27291889 |
2016 |
Sitosterolemia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hepatic expression of detoxification enzymes is decreased in human obstructive cholestasis due to gallstone biliary obstruction.
|
25798860 |
2015 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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.
|
25941971 |
2015 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we detected a known and a novel mutation in ABCG8 in a Chinese patient with sitosterolaemia.
|
25056759 |
2014 |
Sitosterolemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Sitosterolemia is caused by a genetic defect of sterolins (ABCG5/ABCG8) mapped to the STSL locus.
|
24811295 |
2014 |
Sitosterolemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Sitosterolemia induced in Abcg5- and Abcg8-deficient mice fed a high plant sterol diet resulted in accumulation of free sterols in platelet plasma membranes, leading to hyperactivatable platelets characterized by constitutive binding of fibrinogen to its αIIbβ3 integrin receptor, internalization of the αIIbβ3 complex, generation of platelet-derived microparticles, and changes in the quantity and subcellular localization of filamin.
|
23926302 |
2013 |
Sitosterolemia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Knockout mice deficient in Abcg5 or Abcg8 recapitulate many of the phenotypic features of sitosterolemia.
|
23180829 |
2013 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mutations in ABCG5 and ABCG8 genes, encoding sterolin-1 and -2, respectively, are responsible for phytosterolemia.
|
19111681 |
2009 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The gene(s) causing sitosterolaemia was mapped to the STSL locus on human chromosome 2p21, and mutations in either of the two genes that comprise this locus, ABCG5 or ABCG8, cause this disease.
|
18441155 |
2008 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification of the genetic basis responsible for causing sitosterolaemia, characterized by plant sterol accumulation, led to the identification of two half-transporters (ABCG5 and ABCG8) that normally efflux plant sterols (and cholesterol) into the intestinal and biliary lumen for faecal excretion.4.
|
18668442 |
2008 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This family study broadens the spectrum of the ABCG5/ABCG8 mutations causing sitosterolaemia and helps highlight the correlations between such gene mutations, biochemical phenotype and the development of cardiovascular disease.
|
17976197 |
2007 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phytosterolaemia (sitosterolaemia) is a rare autosomal recessive condition caused by mutations on the ABCG5 and ABCG8 gut transporter proteins.
|
17785700 |
2007 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia.
|
16507104 |
2006 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia.
|
16029460 |
2005 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels.
|
15210841 |
2004 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A female subject with each mutation was symptomatic with coronary atherosclerosis: a 5-year-old ABCG8 S107X homozygote and a 75-year-old ABCG5 exon 3 I/D homozygote; these represent the extreme ends of the spectrum of vascular involvement in sitosterolemia.
|
15375183 |
2004 |
Sitosterolemia
|
1.000 |
Biomarker
|
disease |
MGD |
Mice deficient in Abcg8 have significantly increased plasma and tissue plant sterol levels (sitosterol and campesterol) consistent with sitosterolemia.
|
15040800 |
2004 |
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We conclude that the majority of the molecular defects in G5 and G8 that cause sitosterolemia impair transport of the sterol transporter to the cell surface.
|
15054092 |
2004 |