|
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 |
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 |
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 |
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 |
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 |
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 |
|
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 |
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 |
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 |
|
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 |
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 |
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 |
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 |