|
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 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a case of severe tendinous xanthomatosis with heterozygous familial hypercholesterolemia due to the low-density lipoprotein receptor del >15 kb mutation.
|
29778561 |
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 |
AlteredExpression
|
disease |
BEFREE |
This is especially true for patients with heterozygous familial hypercholesterolemia who may require additional upregulation of the low-density lipoprotein receptor (LDLR) to reduce LDL cholesterol levels below those achievable with maximal dosing of statins.
|
28360334 |
2017 |
|
Familial hypercholesterolemia - heterozygous
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We aimed to evaluate the long-term cardiovascular risk in heterozygous familial hypercholesterolemia relatives with a low-density lipoprotein receptor (<i>LDLR</i>) mutation who were all recommended statin therapy.
|
28652386 |
2017 |
|
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 |
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 |
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 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Presence and type of low density lipoprotein receptor (LDLR) mutation influences the lipid profile and response to lipid-lowering therapy in Brazilian patients with heterozygous familial hypercholesterolemia.
|
24529145 |
2014 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Both were diagnosed with heterozygous familial hypercholesterolemia (heFH) after molecular genetic analysis of the low-density lipoprotein (LDL) receptor gene.
|
21955034 |
2012 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Influence of LDL receptor gene mutation and apo E polymorphism on lipoprotein response to simvastatin treatment among adolescents with heterozygous familial hypercholesterolemia.
|
11849659 |
2002 |