|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LDLR lead to familial hypercholesterolemia, a common disease affecting 1 in 500 of the human population.
|
18574243 |
2008 |
|
Hypercholesterolemia, Familial
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
We studied mRNA levels of the LDL-R and HMG CoA reductase genes in response to the HMG CoA reductase inhibitor lovastatin in a time- and dose-dependent fashion in cultured human skin fibroblasts and we devised an in vitro model to study the response to drug therapy in subjects with FH.
|
8800498 |
1996 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism.
|
8872473 |
1996 |
|
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Construction and in vitro functional evaluation of a low-density lipoprotein receptor/transferrin fusion protein as a therapeutic tool for familial hypercholesterolemia.
|
10340553 |
1999 |
|
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
FH-MC-LDLR demonstrated a physiological response, with virtually no DiI-LDL internalization with excess sterols and an ~2-fold increase in DiI-LDL internalization by Lovastatin compared to FH-MC.
|
26307169 |
2015 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A total of 98 FH subjects and 66 healthy first- and second-degree relatives from 30 families with FH due to the French-Canadian > 10-kilobase deletion of the LDL receptor gene were studied.
|
8548413 |
1996 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
FH homozygotes with 2 nonfunctional LDL-R alleles had almost 2-fold higher Lp(a) levels than did FH heterozygotes.
|
10669652 |
2000 |
|
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a hereditary and usually asymptomatic condition characterized by elevated blood cholesterol and increased risk of premature cardiovascular disease.
|
30606641 |
2019 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The T705I mutation of the low density lipoprotein receptor gene (FH Paris-9) does not cause familial hypercholesterolemia.
|
9003505 |
1997 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We identified different combinatory mixtures of LDLR- and LDLRAP1-gene defects as the cause for severe familial hypercholesterolemia in this family.
|
23510778 |
2013 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism caused by mutations in the low-density lipoprotein receptor (LDL-R) gene, leading to elevated levels of cholesterol and an increased risk of coronary heart disease.
|
19073363 |
2009 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Over a thousand low-frequency variants in <i>LDLR, APOB</i> and <i>PCSK9</i> have been implicated in FH but few have been examined at the population level.
|
31106297 |
2018 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Using a simple, standardized denaturing gradient gel electrophoresis (DGGE) based mutation screening technique, a novel G-to-A mutation in the last base of the intron 12 splice acceptor site of the LDL receptor gene was found in 2 Danish families with familial hypercholesterolemia (FH).
|
9051200 |
1997 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is a conformational disease linked to mutations in the gene encoding the low density lipoprotein receptor.
|
17044057 |
2007 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The aims of this study were to 1) compare LDLR variant detection between Ion Torrent Personal Genome Machine (PGM) sequencing and conventional methods used for familial hypercholesterolaemia (FH) diagnosis i.e. exon-by-exon sequence analysis and multiplex ligation-dependent probe amplification (MLPA) and 2) identify genomic breakpoints for 12 cases of large deletions in LDLR previously identified by MLPA.
|
24075752 |
2013 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
DNA from 40 unrelated familial hypercholesterolemia (FH) heterozygotes were subjected to analyses of single-strand conformation polymorphisms (SSCPs) of exon 10 of the low density lipoprotein receptor (LDLR) gene.
|
8103503 |
1993 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolaemia (FH) is caused by mutations in the low-density lipoprotein (LDL)-receptor gene that result in impaired clearance of plasma LDL and increased risk of coronary heart disease.
|
10563483 |
1999 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The clinical expression of FH is highly variable, even in patients carrying the same LDL receptor gene mutation.
|
17020471 |
2006 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.
|
11668627 |
2001 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It was not found neither in another Druze FH family residing in a different geographical area nor in eight Arab and four Jewish FH heterozygote index cases whose hypercholesterolemia cosegregates with an identical LDL receptor gene haplotype.
|
1734722 |
1992 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The considerable variation in age of onset of CHD in patients with FH is believed to arise from conventional risk factors, as well as genetic variation other than in the low-density lipoprotein receptor gene.
|
19166692 |
2009 |
|
Hypercholesterolemia, Familial
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Using the PolyPhen and SIFT prediction computer programmes 87% of the missense variants are predicted to have a deleterious effect on LDLR activity, and it is probable that at least 48% of the remainder are also pathogenic, but their role in FH causation requires confirmation by in vitro or family studies.
|
18325082 |
2008 |
|
Hypercholesterolemia, Familial
|
0.900 |
Biomarker
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant disorder.
|
27830735 |
2016 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.
|
15359125 |
2004 |
|
Hypercholesterolemia, Familial
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online.
|
10447263 |
1999 |