|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The effects of the HMG CoA reductase inhibitor atorvastatin on electrophoretic characteristics of LDL particles were evaluated in 46 patients (28 males and 18 females) with heterozygous familial hypercholesterolemia (FH) aged 20-61 carrying either a negative or a defective LDL receptor gene mutation.
|
12618273 |
2003 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the PCR-SSCP analysis, performed as described here, is as sensitive and efficient as DNA sequencing in the ability to identify the sequence variations in the LDL receptor gene of the patients with heterozygous FH of this study.
|
8697568 |
1996 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Influence of LDL receptor gene mutation and apo E polymorphism on lipoprotein response to simvastatin treatment among adolescents with heterozygous familial hypercholesterolemia.
|
11849659 |
2002 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
The results are also consistent with findings from investigations of the LDLR in FH conducted in other countries, in which PCR-based, exon-by-exon sequencing uncovers small mutations in about half of the subjects screened.
|
11668627 |
2001 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A deletion mutant in the low density lipoprotein receptor gene of a Japanese patient with heterozygous familial hypercholesterolemia was analyzed.
|
8486609 |
1993 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
Furthermore, we expressed hIDOL in a 'humanized' mouse model of heterozygous familial hypercholesterolaemia (LDLR(+/-)/Apobec1(-/-)/hApoB-Tg, LAhB).
|
26786161 |
2016 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A double mutant LDL receptor allele in a cypriot family with heterozygous familial hypercholesterolemia.
|
9225977 |
1997 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We propose the following classification: familial hypercholesterolemia syndrome integrated by (1) heterozygous familial hypercholesterolemia: patients with clinically definite FH and a functional mutation in one allele of the LDLR, ApoB:100, and PCSK9 genes; (2) homozygous familial hypercholesterolemia: mutations affect both alleles; (3) polygenic familial hypercholesterolemia: patients with clinically definite FH but no mutations associated with FH are found (to be distinguished from non-familial, multifactorial hypercholesterolemia); (4) familial hypercholesterolemia combined with hypertriglyceridemia: a subgroup of familial combined hyperlipidaemia patients fulfilling clinically definite FH with associated hypertriglyceridemia.
|
31238171 |
2019 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
Low-density lipoprotein receptor-negative compound heterozygous familial hypercholesterolemia: Two lifetime journeys of lipid-lowering therapy.
|
28391901 |
2017 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
We found a large deletion (more than 10 kilobases) in the gene for the low-density-lipoprotein receptor in 63 percent of French Canadians with heterozygous familial hypercholesterolemia.
|
3627182 |
1987 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Combined heteroduplex single-strand conformation polymorphism (HEX-SSCP) analysis of the promoter and coding region of the low density lipoprotein receptor (LDLR) gene revealed a novel C to T mutation at nucleotide position 2056 in a Costa Rican patient with heterozygous familial hypercholesterolemia (FH).
|
9500809 |
1997 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group.
|
9409298 |
1997 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To assess the contribution of the rs3846662 polymorphism of HMGCR on serum lipid levels and statin efficacy, we measured in vivo HMGCR mRNA and lipid levels in French Canadian individuals affected by heterozygous familial hypercholesterolemia due to the deletion of more than 15 kb of the LDLR gene.
|
26466344 |
2016 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
For instance, CNVs in the LDLR gene underlie a substantial portion of disease in patients with heterozygous familial hypercholesterolemia.
|
19287152 |
2008 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
To see whether the effect of an inhibitor is related to LDL receptor activity in each patient, pravastatin was administered to 7 FH heterozygotes for 3 months at a daily dose of 10 mg; their mean LDL receptor activities measured before the therapy were 45.0 +/- 9.9% of the normal control.
|
2118022 |
1990 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The diagnosis of heterozygous familial hypercholesterolaemia in three rural South African communities in which hypercholesterolaemia is very prevalent could be confirmed by the measurement of low density lipoprotein (LDL) receptor activity in circulating lymphocytes.
|
2918524 |
1989 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in Exon 4 of the low density lipoprotein receptor gene resulting in heterozygous familial hypercholesterolemia associated with decreased ligand binding.
|
9544726 |
1998 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association of specific LDL receptor gene mutations with differential plasma lipoprotein response to simvastatin in young French Canadians with heterozygous familial hypercholesterolemia.
|
9633944 |
1998 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have identified a substitution of G to A in the first base pair of intron 3 in the LDL receptor gene of an English heterozygous familial hypercholesterolemia (FH) patient.
|
7749829 |
1995 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Coronary computed tomographic angiographic findings in asymptomatic patients with heterozygous familial hypercholesterolemia and null allele low-density lipoprotein receptor mutations.
|
23340035 |
2013 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene.
|
7573037 |
1995 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We present data from a cohort of 611 patients referred with suspected heterozygous familial hypercholesterolaemia (FH) from five UK lipid clinics, who were initially screened for point mutations in LDLR and the common APOB and PCSK9 mutations.
|
19538517 |
2009 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolaemia.
|
12121347 |
2002 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We suggest that our two-color fluorescence flow cytometry assay can be used to characterize functionally gene mutations causing LDL receptor dysfunction in patients with heterozygous FH.
|
10331627 |
1999 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Insofar that LDL receptor activity in lymphocytes reflects LDL receptor activity in the liver, the results suggest that the primary response to treatment with fluvastatin in heterozygous familial hypercholesterolemia (FH) patients is not enhanced LDL receptor activity.
|
10761170 |
2000 |