|
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia.
|
11099417 |
2000 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Congenital macrothrombocytopenia is a heterogeneous disorder in India.
|
27291889 |
2016 |
|
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 |
We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia.
|
11099417 |
2000 |
|
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 |
Biomarker
|
disease |
CTD_human |
We identified seven different mutations in two adjacent, oppositely oriented genes that encode new members of the adenosine triphosphate (ATP)-binding cassette (ABC) transporter family (six mutations in ABCG8 and one in ABCG5) in nine patients with sitosterolemia.
|
11099417 |
2000 |
|
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 |
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 |
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 |
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 |
Inactivating mutations on either the ABCG5 or ABCG8 subunit cause Sitosterolemia, a rare genetic disorder.
|
31654053 |
2019 |
|
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 |
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 |
All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia.
|
16029460 |
2005 |
|
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.
|
11452359 |
2001 |
|
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, mutation of ABCG5 and or ABCG8 genes in man causes sitosterolemia, a rare genetic disease characterized by massive absorption of plant sterols and premature arteriosclerosis.
|
12911117 |
2003 |
|
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 |
Mutations in two tandem ABC genes, ABCG5 and ABCG8, encoding sterolin-1 and -2, respectively, are now known to be mutant in sitosterolemia.
|
11264985 |
2001 |
|
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 |
This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia.
|
11668628 |
2001 |
|
Sitosterolemia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia.
|
16507104 |
2006 |