|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.
|
25665839 |
2015 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, we also describe a novel missense mutation in exon 11 of the ABCG5 gene, which enriches the genetic mutation spectrum of sitosterolemia.
|
30782472 |
2020 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.
|
20521169 |
2010 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
|
28521186 |
2017 |
|
Sitosterolemia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The mechanism of ABCG5/ABCG8 in biliary cholesterol secretion in mice.
|
16741293 |
2006 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene.
|
28771437 |
2017 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review.
|
24423340 |
2014 |
|
Sitosterolemia
|
0.800 |
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
|
0.800 |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
Knockout mice deficient in Abcg5 or Abcg8 recapitulate many of the phenotypic features of sitosterolemia.
|
23180829 |
2013 |
|
Sitosterolemia
|
0.800 |
Biomarker
|
disease |
CTD_human |
We now report that a new member of the ABC transporter family, ABCG5, is mutant in nine unrelated sitosterolemia patients.
|
11138003 |
2001 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].
|
29886606 |
2018 |
|
Sitosterolemia
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia.
|
11668628 |
2001 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we here report the first case of a Mexican family with sitosterolemia carrying two new ABCG5 gene mutations.
|
26892138 |
2016 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis].
|
21729603 |
2011 |
|
Sitosterolemia
|
0.800 |
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
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We sequenced ABCG5 and ABCG8 and measured the levels of plasma plant sterols in a 15-year-old Chinese girl with clinical sitosterolaemia (xanthomas with elevated low-density lipoprotein cholesterol (LDL-C) and plant sterols) and her apparently healthy family members.
|
25056759 |
2014 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Sitosterolemia is a rare, autosomal recessive inherited sterol storage disease associated with high tissue and serum plant sterol concentrations, caused by mutations in the adenosine triphosphate-bind-ing cassette (ABC) transporter ABCG5 or ABCG8 genes.
|
20543520 |
2010 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Based on the third variant, a stop variant in ABCG5 (p.(Arg446*)), we established a diagnosis of sitosterolemia, confirmed by elevated blood plant sterol levels and successfully initiated targeted lipid-lowering treatment.
|
26813946 |
2016 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Literature review found another 30 pediatric cases with sitosterolemia due to ABCG5 gene mutation.
|
30985648 |
2019 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
|
24166850 |
2014 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although not sufficient evidence exists to regard this sequence variation as a mutation, this previously unreleased sequence variation occurred in a "hot spot" area for sitosterolemia of the ABCG5 gene (exon 9) and the similar increased plasma plant sterol concentrations of the heterozygous mother contribute to the notion, that this very likely presents an inactivating mutation.
|
21664501 |
2011 |
|
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel nonsense mutation in exon 10 of the ABCG5 gene in a 10-year-old girl showing clinical and biochemical features of sitosterolaemia.
|
17976197 |
2007 |