|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
First, the LDLR locus was expressed appropriately in the ldl(-/-)a7 Chinese hamster ovary (CHO) cell line immediately following infectious delivery; second, the locus was maintained within a replicating episomal vector and expressed at broadly physiological levels in CHO cells for 3 months following infectious delivery; and third, the locus was efficiently expressed in human fibroblasts derived from FH patients.
|
12718903 |
2003 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
|
1464748 |
1992 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We recognized a 45-year-old Saudi female FH patient with double variants in the LDLR [c.1255 T > G, p.(Y419D)] and LDLRAP1 genes [c.604_605delTCinsA, p.(S202Tfs*2)].
|
30270081 |
2018 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).
|
8168830 |
1994 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The study was performed with 70 carriers of two LDL-receptor mutations common in northern Italy (i.e., the 4 bp insertion in exon 10 known as FH-Savona and the D200G missense mutation in the exon 4, known as FH-Padova 1) and 100 healthy controls.
|
11700734 |
2001 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia.
|
11005141 |
2000 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For instance, the use of novel techniques to detect copy number variations, such as multiplex ligation-dependent probe amplification, has revealed many additional causative mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia.
|
17353666 |
2007 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The finding of a compound heterozygous mutation causing severe FH phenotype is important for the genotype-phenotype correlation and also enlarges the spectrum of FH-causative LDLR variants in the Arab population, including the Saudi population.
|
27878139 |
2017 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LDL-receptor gene are responsible for FH.
|
9412789 |
1998 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia.
|
8740918 |
1996 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study has yielded preliminary information on the mutation spectrum of the LDLR gene among patients with FH in Morocco.
|
12730724 |
2003 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) can be due to mutations in LDLR, PCSK9, and APOB.
|
24420163 |
2014 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.
|
8347689 |
1993 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Increasing the sensitivity of single-strand conformation polymorphism analysis of the LDLR gene mutations in brazilian patients with familial hypercholesterolemia.
|
12113284 |
2002 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We showed an age-related gene-dosage effect of deletion of the low-density lipoprotein receptor (LDL-R) gene on aortic calcification in human subjects with FH.
|
23040868 |
2013 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A patient with clinical phenotype of homozygous FH and her parents were investigated for mutations in the promoter and all eighteen exons of the LDL-R gene.
|
14570618 |
2003 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In a previous study, we have shown that in patients with definite FH around 20% had no identifiable gene defect after screening the entire exon coding area of the low density lipoprotein receptor (LDLR) and testing for the common Apolipoprotein B (ApoB) R3500Q mutation.
|
16159606 |
2005 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolemia.
|
8004803 |
1994 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In an outbreed Caucasian population, a three-step protocol for genetic screening detected a mutation in the low-density lipoprotein receptor gene in a high percentage (84%) of subjects with familial hypercholesterolemia.
|
11600564 |
2001 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the FDB lipoprotein phenotype was significantly less severe than that observed in FH carriers of LDLR gene missense ligand-binding domain mutations.
|
18279815 |
2008 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore, the founder effect in a rapidly expanding population from a limited number of families remains a simple, parsimonious hypothesis explaining the spread of G197del-LDLR-linked FH in AJ individuals.
|
11309683 |
2001 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes coding for the low density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type-9 (PCSK9) or apo-lipoprotein B-100 (APOB).
|
23535506 |
2013 |
|
Hyperlipoproteinemia Type IIa
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to examine the kinetics of apoB-100 labeled with a stable isotope (l-[5,5,5-D(3)] leucine) in five normolipidemic controls and in seven well-characterized FH subjects that included six FH heterozygotes and one FH homozygote carrying the same null LDL receptor gene mutation.
|
14967814 |
2004 |