|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Lack of evidence for reduced plasma apo B48 catabolism in patients with heterozygous familial hypercholesterolemia carrying the same null LDL receptor gene mutation.
|
15019548 |
2004 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia.
|
7937987 |
1994 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To determine the effect of the type of mutation in low-density lipoprotein receptor gene and the risk factors associated with the development of premature cardiovascular disease (PCVD) in a large cohort of heterozygous familial hypercholesterolemia (hFH) subjects with genetic diagnosis in Spain.
|
18243212 |
2008 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have applied the denaturing gradient gel electrophoresis (DGGE) technique to detect sequence variations in exon 9 of the low density lipoprotein receptor (LDLR) gene in individuals with heterozygous familial hypercholesterolemia (FH).
|
8314561 |
1993 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Flow cytometric measurement of low density lipoprotein receptor activity validated by DNA analysis in diagnosing heterozygous familial hypercholesterolemia.
|
9383100 |
1997 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations.
|
15135251 |
2004 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Comparison of serum lipid levels in 149 heterozygous FH patients, including 79 patients with the FH Helsinki gene and 70 patients with the FH North Karelia gene, grouped according to the PvuII RFLP status of their nonmutated LDL-receptor allele; studies of lovastatin responses in 23 FH patients with different mutation types.
|
7830029 |
1995 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada.
|
9484998 |
1998 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have applied the polymerase chain reaction to detect differences in relative amount of allele-specific transcripts of the low density lipoprotein receptor gene in individuals with heterozygous familial hypercholesterolemia (FH).
|
1714719 |
1991 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Analysis of long-term (30 years) clinical history and response to treatment of 13 patients with the D374Y mutation of PCSK9 (PCSK9 patients) from 4 unrelated white British families compared with 36 white British patients with heterozygous familial hypercholesterolemia attributable to 3 specific mutations in the low-density lipoprotein (LDL) receptor gene (LDLR) known to cause severe phenotype.
|
16224054 |
2005 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A cross-sectional study was conducted in 20 FH men with the LDL receptor mutation (K790X) [age 42.3+/-2.8 years old, body mass index (BMI) 24.6+/-0.7 kg/m2, total cholesterol (TC) 8.68+/-0.36 mmol/l, triglycerides (TG) 1.76+/-0.23 mmol/l, high-density lipoprotein cholesterol (HDL-C) 0.977+/-0.065 mmol/l].
|
15820475 |
2005 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identification of the novel and recurring LDLR mutations in Korean FH patients should facilitate prenatal and early diagnosis in families at high risk of FH.
|
15359125 |
2004 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
To ascertain whether the molecular characterization of a defect in the low-density lipoprotein (LDL) receptor gene (LDLR) in children with heterozygous familial hypercholesterolemia (heFH) identifies subjects at greater risk of developing premature coronary artery disease (pCAD) later in life.
|
19446849 |
2009 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutation of the LDL receptor gene very common among Finnish patients with heterozygous familial hypercholesterolemia (FH) was identified.
|
1634609 |
1992 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.
|
8956037 |
1996 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).
|
8589690 |
1995 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia.
|
8457250 |
1993 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia.
|
23369702 |
2013 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
Normalization of LDL receptor function by lymphocytes of patients with heterozygous familial hypercholesterolemia after treatment with plasma cholesterol lowering agents.
|
2552800 |
1989 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to assess femoral atherosclerosis by ultrasound in patients with molecularly defined heterozygous familial hypercholesterolemia (FH) in comparison with matched control subjects and in relation to mutational class in the LDL receptor and apolipoprotein B (APOB) genes.
|
18096825 |
2008 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Knowing the LDL receptor gene mutation of the FH patients allowed us to compare the diagnostic capability of this functional assay with the DNA diagnosis and to validate the assay with molecular genetics instead of clinical indices of heterozygous FH.
|
9590369 |
1998 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Likewise, PCSK9 reduced LDLR abundance by 39 ± 8% in nonfamilial hypercholesterolemia (non-FH) and by 45 ± 10% in HeFH lymphocytes, irrespective of their LDLR mutation status.
|
24632287 |
2014 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
Biomarker
|
disease |
BEFREE |
An analysis of LDL-receptor gene was performed on an Italian patient with heterozygous familial hypercholesterolemia.
|
8409767 |
1993 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
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 - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report a rare case of heterozygous familial hypercholesterolemia (FH) caused by a de novo mutation in LDL receptor (LDLR) gene identified using whole exome sequencing.
|
26721317 |
2016 |