Hypercholesterolemia, Familial
|
0.400 |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.
|
12016260 |
2002 |
Hypercholesterolemia, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
By the same combination of genetic linkage and molecular analysis we could also exclude mutations in the gene for the LDL receptor adaptor protein and in the gene for cholesterol-7-alpha-hydroxylase as causes of FH in our sample.
|
15530918 |
2004 |
Hypercholesterolemia, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The finding of the combined variants in LDLR/LDLRAP1 genes triggering a severe FH phenotype is essential to elaborate the spectrum of variants causing FH and to understand the genotype-phenotype correlation.
|
30270081 |
2018 |
Hypercholesterolemia, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A rare form of autosomal recessive FH has been also described due to LDLr adaptor protein 1 (LDLRAP1) gene mutations.
|
30910740 |
2019 |
Hypercholesterolemia, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This highlights the likelihood of a complex, polygenic inheritance of FH in Sri Lankan patients, indicating the need for a comprehensive genetic evaluation that includes the screening for mutations in other genes that cause FH, such as APOB, PCSK9, and LDLRAP1.
|
29720182 |
2018 |
Hypercholesterolemia, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
An autosomal recessive form of FH is also known, due to homozygous mutations in LDLRAP1.
|
23054246 |
2012 |
Hypercholesterolemia, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the low-density lipoprotein (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin 9 (PCSK9), and LDLRAP1 genes have been associated with FH.
|
30415195 |
2018 |
Hypercholesterolemia, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cascade screening and genetic counseling differ for ARH as compared with FH, as the carrier of a pathogenic variant in the LDLRAP1 gene does not have marked total cholesterol and LDL-C elevations.
|
31734096 |
2019 |
Hypercholesterolemia, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in four genes (LDLR, APOB, PCSK9 and LDLRAP1) account for the majority of cases with familial hypercholesterolemia.
|
28577571 |
2017 |
Hypercholesterolemia, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The objectives of the study were to improve the molecular diagnosis of familial hypercholesterolemia (FH) and to estimate the frequency of the ARH1 allele in 2 free-living Sicilian populations.
|
29153781 |
2019 |
Hypercholesterolemia, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.
|
21872251 |
2011 |
Hypercholesterolemia, Familial
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular mechanisms of autosomal recessive hypercholesterolemia.
|
12417523 |
2002 |