Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The most frequent monogenic causes of low plasma cholesterol are familial hypobetalipoproteinemia (FHBL1) because of truncating mutations in apolipoprotein B coding gene (APOB) and familial combined hypolipidemia (FHBL2) due to loss-of-function mutations in ANGPTL3 gene.
|
28733173 |
2018 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypobetalipoproteinemia (FHBL) represents the genetic mirror of FH in terms of LDL-C levels, very low in subjects carrying mutations of APOB, PCSK9 (FHBL1) or ANGPTL3 (FHBL2).
|
27804036 |
2017 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations.
|
26073401 |
2016 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The autosomal co-dominant disorder familial hypobetalipoproteinemia (FHBL) may be due to mutations in the APOB gene encoding apolipoprotein B (apoB), the main constituent peptide of chylomicrons, very low and low density lipoproteins.
|
26612772 |
2016 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial hypobetalipoproteinemia (FHBL) is characterized by mutations in APOB, the majority of these causing protein truncations, and low plasma levels of apolipoprotein (apo) B.
|
26916057 |
2016 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Currently, genetic diagnosis in FHBL relies largely on Sanger sequencing to identify APOB and PCSK9 gene mutations and on western blotting to detect truncated ApoB species.
|
27179706 |
2016 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
ApoB production rates and IDL- and LDL-apoB FCRs were not different between FHBL subjects and controls.
|
26323024 |
2015 |
Familial hypobetalipoproteinemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Familial hypobetalipoproteinemia (FHBL) is autosomal codominant disorder of lipoprotein metabolism characterized by low plasma levels of total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5(th) percentile of the distribution in the population.
|
25618028 |
2015 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, she had no mutations in FHBL candidate genes (APOB, PCSK9 and ANGPTL3).
|
23043934 |
2013 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We describe a case in which an obese woman with APOB L343V FHBL developed non-alcoholic steatohepatitis-related cirrhosis of the liver.
|
23694813 |
2013 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We scanned for ANGPTL3 mutations in 4 unrelated Spanish families with FHBL criteria but negative for mutations in APOB.
|
22155345 |
2012 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The proband's wife and children presented with familial hypobetalipoproteinemia and were heterozygotes for the novel apoB H1401R variant.
|
22658148 |
2012 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
FHBL without truncated apoB is a heterogeneous disease from a metabolic and a genetic perspective.
|
21502677 |
2011 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Most mutations that cause FHBL are APOB truncating mutations.
|
21122650 |
2011 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results suggest that feedback inhibition of hepatic lipogenesis in conjunction with post-ER degradation of misfolded apoB proteins can contribute to reduce fat accumulation in the FHBL liver.
|
20032471 |
2010 |
Familial hypobetalipoproteinemia
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Familial hypobetalipoproteinemia is a disorder of lipid metabolism characterized by extremely low plasma levels of apolipoprotein B as well as low levels of total and low-density lipoprotein cholesterol.
|
19773654 |
2009 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
FHBL due to R463W apoB mutation is a cause of intestinal fat accumulation and postprandial lipid absorption impairment.
|
19344897 |
2009 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report two novel APOB gene mutations involving the acceptor splice site of intron 11 (c.1471-1G>A) and of intron 23 (c.3697-1G>C), respectively, which were identified in two patients with heterozygous FHBL associated with severe fatty liver disease.
|
19084451 |
2009 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The objectives of this study were to identify apoB-defective FHBL subjects and investigate fatty liver in Japanese population.
|
18848826 |
2009 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We described here an unusual clinical observation of a patient with FHBL and early development of liver cirrhosis due to a new truncated form of apoB.
|
19060634 |
2009 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
Multicompartmental modeling analysis showed that the delay time of apoB-48 was shorter and that apoB-48 production was decreased in FHBL subjects compared with controls.
|
17213276 |
2007 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In a group of 59 patients with FHBL genotyped for APOB gene mutations, we found three novel splice-site mutations: c.904+4A-->G in intron 8, c.3843-2A-->G in intron 24 and c.4217-1G-->T in intron 25.
|
17158591 |
2007 |
Familial hypobetalipoproteinemia
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We sequenced PCSK9 gene in 18 familial hypobetalipoproteinemia subjects and in 102 hypocholesterolemic blood donors who were negative for APOB gene mutations known to cause familial hypobetalipoproteinemia.
|
17170371 |
2007 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
The FHBL parents had low serum lipid and apoB profiles distinguishing the disorder from the normal levels in ABL parents.
|
18027103 |
2007 |
Familial hypobetalipoproteinemia
|
0.500 |
Biomarker
|
disease |
BEFREE |
FHBL may be linked or not to the APOB gene.
|
17570373 |
2007 |