|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We examined HDL particles obtained from wild type (WT), LDLR(-/-), and apoE(-/-) mice, as well as from normal, homozygous familial hypercholesterolemic (FH), and apoE-deficient human subjects by 2-dimensional non-denaturing PAGE followed by immunoblot and image analysis.
|
24529120 |
2014 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolaemia is genetically heterogeneous, but most commonly (approximately 93%) caused by mutations in low-density lipoprotein receptor (LDLR), where the disease is known as familial hypercholesterolaemia (FH), or apolipoprotein B-100 (APOB) (approximately 5.5%), where the disease is known as familial defective APOB (FDB), while in approximately 2% of patients the mutation is in the proprotein convertase subtilisin/kexin type 9 gene.
|
20736250 |
2010 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.
|
18279815 |
2008 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genomic characterization of five deletions in the LDL receptor gene in Danish Familial Hypercholesterolemic subjects.
|
16796766 |
2006 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, the lipoprotein phenotype of these FH groups was compared with 19 heterozygous subjects with familial ligand-defective apoB (FDB), due to R3500Q mutation.
|
14508510 |
2003 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Low-density lipoprotein receptor (LDLR) gene mutations cause familial hypercholesterol-emia (FH), one of the most common single gene disorders.
|
11933210 |
2002 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Numerous different molecular defects have been identified in the LDL receptor (LDLR) and few specific mutations in the apolipoprotein B (APOB) gene resulting in familial hypercholesterolaemia and familial defective apoB-100 respectively.
|
10952765 |
2000 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing.
|
7616128 |
1995 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe the characterization of a mutation in the low density lipoprotein (LDL) receptor gene of a true homozygous familial hypercholesterolemic (FH) patient.
|
8141835 |
1993 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This result suggests the possibility that genetic variation at the LDL receptor locus or a closely linked locus on chromosome 19 may be responsible for metabolic alterations in ALP pattern B that account for a substantial proportion of the familial predisposition to coronary artery disease in the general population.
|
1731344 |
1992 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
The properties of the low-density lipoprotein (LDL) receptor were studied in skin fibroblasts from a homozygous familial hypercholesterolaemic subject, MM (MM cells), who exhibits a defect in the processing of the precursor form of the receptor.
|
2920733 |
1989 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Fibroblast studies demonstrated that the familial hypercholesterolemic subjects studied were LDL receptor-negative (less than 1% normal receptor activity) and LDL receptor-defective (18% normal receptor activity).
|
3707989 |
1986 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood.
|
4363406 |
1974 |