|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
|
24234650 |
2014 |
|
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 |
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 |
A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder.
|
8371062 |
1993 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype.
|
9191540 |
1997 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
An oral fat load was given, and chylomicron plasma kinetics was determined by monitoring the clearance of triglyceride, retinyl palmitate and apolipoprotein B48, calculated as the area under the curve, for 7.5 h. In addition, the binding and uptake of chylomicron remnants by fibroblasts of FH and control subjects were assessed in vitro.
|
9650011 |
1998 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
|
25461735 |
2015 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia.
|
9626156 |
1998 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.
|
11238294 |
2001 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
Biomarker
|
disease |
BEFREE |
Apolipoprotein B metabolism in homozygous familial hypercholesterolemia.
|
2715722 |
1989 |
|
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 |
Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.
|
22353362 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
|
2563166 |
1989 |
|
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 |
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 |
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
|
24784157 |
2014 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.
|
10208479 |
1999 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.
|
8723684 |
1996 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
|
22408029 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia.
|
1793440 |
1991 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.
|
18096825 |
2008 |
|
Familial hypercholesterolemia - homozygous
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.
|
11833852 |
2001 |