Hypobetalipoproteinemias
|
0.200 |
Biomarker
|
disease |
BEFREE |
We report hypobetalipoproteinemia (LDL cholesterol [LDL-C] and apolipoprotein B below the fifth percentile) in a large cohort of patients with type I CDG (mean age, 9 years), together with reduced LDL-C and apolipoprotein B in clinically unaffected heterozygous relatives (mean age, 46 years), compared with 2 separate sets of age- and sex-matched control subjects.
|
31117816 |
2019 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipoproteinemia), or SAR1B (chylomicron retention disease).
|
31253576 |
2019 |
Hypobetalipoproteinemias
|
0.200 |
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 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe 2 children with severe hypobetalipoproteinemia found to be homozygous for novel APOB gene mutations.
|
26073401 |
2016 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia.
|
27179706 |
2016 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity for a rare missense mutation in the βα1 domain of apoB may be the cause of both severe hypobetalipoproteinemia and intestinal lipid malabsorption.
|
26612772 |
2016 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The identification of ApoB loss-of-function mutations in type 1 diabetic patients presents innovative cases to study the interaction between hypobetalipoproteinemia and insulin deficiency.
|
25430706 |
2015 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia.
|
26323024 |
2015 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)--Update 2014.
|
25335495 |
2015 |
Hypobetalipoproteinemias
|
0.200 |
Biomarker
|
disease |
BEFREE |
"Primary hypobetalipoproteinemia" refers to an eclectic group of inherited lipoprotein disorders characterized by low concentrations of or absence of low-density lipoprotein cholesterol and apolipoprotein B in plasma.
|
24781598 |
2014 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Hypobetalipoproteinemia and abetalipoproteinemia.
|
24751931 |
2014 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrated that in a cohort of subjects with severe primary hypobetalipoproteinemia the prevalence of ANGPTL3 gene mutations responsible for a combined hypolipidemia phenotype is about 10%, whereas mutations of APOB gene are absent.
|
22247256 |
2012 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.
|
22155345 |
2012 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The proband's wife and children presented with familial hypobetalipoproteinemia and were heterozygotes for the novel apoB H1401R variant.
|
22658148 |
2012 |
Hypobetalipoproteinemias
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Hypobetalipoproteinemias (HBL) represent a heterogeneous group of disorders characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and apolipoprotein B (apoB) below the 5th percentile of the distribution in the population.
|
21874758 |
2011 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.
|
20032471 |
2010 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.
|
19344897 |
2009 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Identification of patients with abetalipoproteinemia and homozygous familial hypobetalipoproteinemia in Tunisia.
|
19056372 |
2009 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Apolipoprotein B gene mutations and fatty liver in Japanese hypobetalipoproteinemia.
|
18848826 |
2009 |
Hypobetalipoproteinemias
|
0.200 |
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 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.
|
19084451 |
2009 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia.
|
17158591 |
2007 |
Hypobetalipoproteinemias
|
0.200 |
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 |
Hypobetalipoproteinemias
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We showed that heterozygotes for a new mutation in APOB have hypobetalipoproteinemia, despite a reduced binding of LDL to the LDL receptor.
|
15797858 |
2005 |
Hypobetalipoproteinemias
|
0.200 |
AlteredExpression
|
disease |
LHGDN |
Genetic variants of ApoE account for variability of plasma low-density lipoprotein and apolipoprotein B levels in FHBL.
|
15585207 |
2005 |