|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing (WES) of the patient genome identified a novel variant, homozygous for a 52 bp intronic deletion in the <i>AGPAT2</i> locus, coding for 1-acylglycerol-3-phosphate O-acyltransferase 2, which is uniquely associated with CGL1 seipinopathies, with no molecular evidence for dual diagnosis.
|
30563316 |
2019 |
|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
Biomarker
|
disease |
MGD |
Mogat1 deletion does not ameliorate hepatic steatosis in lipodystrophic (Agpat2-/-) or obese (ob/ob) mice.
|
26880786 |
2016 |
|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.
|
22902344 |
2012 |
|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.
|
22902344 |
2012 |
|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
Biomarker
|
disease |
MGD |
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy.
|
19187773 |
2009 |
|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
GeneticVariation
|
disease |
BEFREE |
We have demonstrated four novel mutations of the BSCL2 and AGPAT2 genes responsible for Berardinelli-Seip syndrome and Brunzell syndrome (AGPAT2-related syndrome).
|
19226263 |
2009 |
|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy.
|
15629135 |
2005 |
|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
|
11967537 |
2002 |
|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
|
11967537 |
2002 |
|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Congenital Generalized Lipodystrophy Type 1
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Lipodystrophy
|
0.700 |
Biomarker
|
disease |
MGD |
Mogat1 deletion does not ameliorate hepatic steatosis in lipodystrophic (Agpat2-/-) or obese (ob/ob) mice.
|
26880786 |
2016 |
|
Lipodystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Alterations in lipid signaling underlie lipodystrophy secondary to AGPAT2 mutations.
|
22872237 |
2012 |
|
Lipodystrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
A number of proteins mutated in genetic lipodystrophies are involved in the control of triglyceride synthesis towards the lipid droplet (1-acylglycerol-3-phosphate-O-acyltransferase 2), or its functions (seipin, cell death-inducing DFF45-like effector C, perilipin, caveolin-1, cavin-1).
|
21392585 |
2011 |
|
Lipodystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conducted an open-label prospective study of patients with acquired forms of lipodystrophy and inherited forms of lipodystrophy secondary to mutations in the AGPAT2, SEIPIN (also known as BSCL2), LMNA and PPARgamma (also known as PPARG) genes.
|
19727665 |
2010 |
|
Lipodystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Adiponectin greater than 1.6 mg/liter had a 100% negative predictive value for AGPAT2 mutations in inherited lipodystrophies.
|
20097706 |
2010 |
|
Lipodystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic forms are uncommon: recessive generalized congenital lipodystrophies result in most cases from mutations in the genes encoding seipin or the 1-acyl-glycerol-3-phosphate-acyltransferase 2(AGPAT2).
|
20551664 |
2010 |
|
Lipodystrophy
|
0.700 |
Biomarker
|
disease |
MGD |
Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy.
|
19187773 |
2009 |
|
Lipodystrophy
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome.
|
18155601 |
2008 |
|
Lipodystrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
To gain insight into how altered AGPAT2 activity causes lipodystrophy, we examined the effect of knockdown of AGPAT2 expression in preadipocytes on TAG synthesis and storage, and on adipocyte differentiation.
|
16495223 |
2006 |
|
Lipodystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The loss of body fat in inherited lipodystrophies can be caused by defects in the development and/or differentiation of adipose tissue as a consequence of mutations in a number of genes, including PPARG (encoding a nuclear hormone receptor), AGPAT2 (encoding an enzyme involved in the biosynthesis of triglyceride and phospholipids), AKT2 (encoding a protein involved in insulin signal transduction), and BSCL2 (encoding seipin, whose role in the adipocyte biology remains unclear).
|
16722806 |
2006 |
|
Lipodystrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Defects in several genes, such as those encoding an enzyme (AGPAT2), a nuclear receptor (PPARgamma), a nuclear lamina protein (LMNA) and its processing endoprotease (ZMPSTE24), a kinase (AKT2), and a protein of unknown function (BSCL2), have been found in patients with genetic lipodystrophies.
|
16409151 |
2006 |
|
Lipodystrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Congenital generalized lipodystrophy or Berardinelli-Seip syndrome, autosomal recessive, is characterized by a complete early lipoatrophy and severe insulin resistance and results, in most cases, from mutations either in the seipin gene of unknown function or AGPAT2 encoding an enzyme involved in triacylglycerol synthesis.
|
16246048 |
2005 |
|
Lipodystrophy
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.
|
14602785 |
2003 |