|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary.
|
11137107 |
2001 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of familial hypercholesterolaemia in Western Australia.
|
22883975 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
|
17142622 |
2006 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetic heterogeneity of autosomal dominant hypercholesterolemia.
|
18028451 |
2008 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.
|
1977310 |
1990 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Here, we have used hepatocyte-like cells generated from homozygous familial hypercholesterolemia (hoFH) iPSCs to identify drugs that can potentially be repurposed to lower serum LDL-C. We found that cardiac glycosides reduce the production of apolipoprotein B (apoB) from human hepatocytes in culture and the serum of avatar mice harboring humanized livers.
|
28388428 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.
|
11494965 |
2001 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.
|
9702952 |
1998 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.
|
8318993 |
1993 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.
|
7627691 |
1995 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Inhibition of apolipoprotein B synthesis by mipomersen represents a novel, effective therapy to reduce LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia who are already receiving lipid-lowering drugs, including high-dose statins.
|
20227758 |
2010 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.
|
11833852 |
2001 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
LDL receptor mutations and ApoB mutations are not risk factors for ischemic cerebrovascular disease of the young, but lipids and lipoproteins are.
|
10529757 |
1999 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.
|
9654205 |
1998 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.
|
17964958 |
2007 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Lomitapide, added to ongoing treatment with other LLTs, was effective in rapidly and significantly reducing the levels of LDL-C and other atherogenic apolipoprotein B-containing lipoproteins in adult Japanese patients with HoFH.
|
28154305 |
2017 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.
|
23064986 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.
|
22294733 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mipomersen, an apolipoprotein B (ApoB) synthesis inhibitor, for lowering of LDL-C showed to be an effective therapy to reduce LDL-C concentrations in patients with HoFH who are already receiving lipid-lowering drugs, including high-dose statins.
|
22963620 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of familial hypercholesterolemia in Spain.
|
22244043 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.
|
10735632 |
2000 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetics of familial hypercholesterolaemia in Norway.
|
9104431 |
1997 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
|
20809525 |
2010 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
|
17539906 |
2007 |