Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia (ADH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes, and it is estimated to be greatly underdiagnosed.
|
30293936 |
2019 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Compared to control cells, cells originally derived from an individual with ADH (HLC-S127R) secreted less PCSK9 in the media (-38.5%; P=0.038) and had a 71% decrease (P<0.001) of low-density lipoprotein (LDL) uptake, whereas cells originally derived from an individual with FHBL (HLC-R104C/V114A) displayed a strong decrease in PCSK9 secretion (-89.7%; P<0.001) and had a 106% increase (P=0.0104) of LDL uptake.
|
26586530 |
2016 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia (ADH) is caused by mutations in the low density lipoprotein receptor (LDLR), its ligand apoB (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes.
|
24267230 |
2013 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations of PCSK9 induce ADH and are very rare, but their identification is crucial in studying PCSK9's role in hypercholesterolemia, its detailed trafficking pathway and its impact on the LDLR.
|
22683120 |
2012 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia (ADH) is commonly caused by mutations in the low-density lipoprotein (LDL) receptor gene (LDLR), in the apolipoprotein B-100 gene (APOB), or in the proprotein convertase subtilisin kexine 9 gene (PCSK9).
|
22417841 |
2012 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal Dominant Hypercholesterolemia (ADH) is due to defects in the LDL receptor gene (LDLR), the apolipoprotein B-100 gene (APOB) or the proprotein convertase subtilisin/kexin type 9 gene (PCSK9).
|
22910581 |
2012 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the genes encoding for low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) underlie ADH.
|
21382890 |
2011 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our observations indicate that missense variations in the PCSK9 gene do not influence the clinical phenotype of ADH patients carrying a mutation in the LDLR gene.
|
21115573 |
2011 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The respective contribution of each known gene to ADH inthis French cohort is: LDLR 73.9%, APOB 6.6%, PCSK9 0.7%.
|
20809525 |
2010 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in LDLR, APOB, and PCSK9 genes have been shown to cause ADH.
|
20571503 |
2010 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertase Subtilin Kexin 9).
|
19319977 |
2009 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our discovery in 2003 of the first mutations of the proprotein convertase subtilisin kexin 9 gene (PCSK9) causing ADH shed light on an unknown actor in cholesterol metabolism that since then has been extensively investigated.
|
19191301 |
2009 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have shown further heterogeneity with the discovery of missense mutations in the PCSK9 gene resulting in ADH.
|
18028451 |
2008 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
PCSK9 is a rare cause of ADH in Spanish population and, up to what we know, none of the previously described mutations has been detected.
|
18559913 |
2008 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, PCSK9 gene mutation may not be a major cause of ADH in our study population.
|
17964958 |
2007 |
Atypical Ductal Breast Hyperplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we analysed the PCSK9 coding region and intronic junctions in 130 adult or pediatric patients with ADH, previously found as being non LDLR/non APOB mutation carriers.
|
16211558 |
2005 |