Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene.
|
20521169 |
2010 |
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
|
20719861 |
2010 |
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mutations in ABCG5 and ABCG8 genes, encoding sterolin-1 and -2, respectively, are responsible for phytosterolemia.
|
19111681 |
2009 |
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases.
|
19111681 |
2009 |
Sitosterolemia
|
0.800 |
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
|
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 |
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 |
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols.
|
17228349 |
2007 |
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.
|
17976197 |
2007 |
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 |
Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia.
|
16507104 |
2006 |
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia.
|
16029460 |
2005 |
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 |
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
|
0.800 |
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
|
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 |
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 |
UNIPROT |
This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia.
|
11668628 |
2001 |
Sitosterolemia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
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 |
BEFREE |
This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia.
|
11668628 |
2001 |
Sitosterolemia
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
UNIPROT |
Recently, we reported that a novel member of the ABC-transporter family, named "sterolin-1" and encoded by ABCG5, is mutated in 9 unrelated families with sitosterolemia; in the remaining 25 families, no mutations in sterolin-1 could be identified.
|
11452359 |
2001 |
Sitosterolemia
|
0.800 |
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
|
0.800 |
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
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|