|
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 |
Objectives To report two novel ABCG5 variants causing STSL in a Spanish patient, and review the clinical and mutational landscape of STSL.
|
28696550 |
2017 |
|
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 |
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 |
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review.
|
24423340 |
2014 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
|
24166850 |
2014 |
|
Sitosterolemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
|
29353225 |
2018 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The mechanism of ABCG5/ABCG8 in biliary cholesterol secretion in mice.
|
16741293 |
2006 |
|
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 |
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 |
This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia.
|
11668628 |
2001 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Two genes, ABCG5 and ABCG8, comprise the STSL and mutations in either cause sitosterolemia.
|
16507104 |
2006 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
[Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis].
|
21729603 |
2011 |