|
Myeloid Leukemia, Chronic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder with two major subtypes, which are caused by AGPAT2 and BSCL2 mutations.
|
30266686 |
2019 |
|
Myeloid Leukemia, Chronic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Four distinct subtypes of CGL exist: type 1 is associated with AGPAT2 mutations; type 2 is associated with BSCL2 mutations; type 3 is associated with CAV1 mutations; and type 4 is associated with PTRF mutations.
|
26239609 |
2015 |
|
Myeloid Leukemia, Chronic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CGL type 1 is the most frequent form and is caused by mutations in AGPAT2.
|
24498038 |
2014 |
|
Myeloid Leukemia, Chronic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The phenotype and presence of two mutations suggests that biallelic mutations at PPARG cause a CGL similar to that observed with biallelic AGPAT2 or BSCL2 mutations.
|
24980513 |
2014 |
|
Myeloid Leukemia, Chronic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Several genes (BSCL1-4) were found to be associated to the syndrome but not all CGL patients carry mutations in these genes.
|
23919306 |
2013 |
|
Myeloid Leukemia, Chronic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2, CAV1 and PTRF have been assigned to each type.
|
23659685 |
2013 |
|
Myeloid Leukemia, Chronic
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
This defect was rescued in CGL MDMCs with a retrovirus expressing AGPAT2.
|
22872237 |
2012 |
|
Myeloid Leukemia, Chronic
|
0.100 |
Biomarker
|
disease |
BEFREE |
The associated mutant gene products include 1) nuclear lamin A in FPLD type 2 and MAD type A; 2) nuclear lamin B2 in APL; 3) nuclear hormone receptor peroxisome proliferator-activated receptor gamma in FPLD type 3; 4) lipid biosynthetic enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 in CGL type 1; 5) integral endoplasmic reticulum membrane protein seipin in CGL type 2; and 6) metalloproteinase ZMPSTE24 in MAD type B.
|
17374881 |
2007 |
|
Myeloid Leukemia, Chronic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To analyze Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) and 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) gene variation in a Chinese boy with CGL and his family.
|
18057387 |
2007 |
|
Myeloid Leukemia, Chronic
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Recent studies suggest that reduced AGPAT2 enzymatic activity may underlie the CGL clinical phenotype.
|
16495223 |
2006 |
|
Myeloid Leukemia, Chronic
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We suggest that reduction in AGPAT2 enzymatic activity underlies the loss of adipose tissue in CGL.
|
15629135 |
2005 |
|
Myeloid Leukemia, Chronic
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, seipin, encoding a 398-amino acid protein of unknown function, and AGPAT2, encoding 1-acyl-sn-glycerol-3-phosphate acyltransferase 2, were identified as causative genes for CGL.
|
15126564 |
2004 |
|
Myeloid Leukemia, Chronic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, mutations in AGPAT2 and Gng3lg are approximately equally represented in CGL; despite harboring the same Gng3lg mutation, subjects may have widely divergent clinical manifestations, suggesting modifying influences of other genes and/or environment; and Brunzell syndrome may be caused by a mutation in AGPAT2.
|
15181077 |
2004 |
|
Myeloid Leukemia, Chronic
|
0.100 |
Biomarker
|
disease |
BEFREE |
Therefore, we genotyped 45 pedigrees with CGL for AGPAT2 and BSCL2 loci and compared the phenotypes in the various subtypes.
|
14557463 |
2003 |
|
Myeloid Leukemia, Chronic
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, we reported mutations in the 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) gene in CGL pedigrees linked to chromosome 9q34 (CGL1 subtype), and mutations in the Seipin gene were reported in pedigrees linked to chromosome 11q13 (CGL2 subtype).
|
14602785 |
2003 |
|
Myeloid Leukemia, Chronic
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the BSCL2 (which encodes seipin, a protein of unknown function) and AGPAT2 (which encodes 1-acylglycerol-3-phosphate O-acyltransferase 2) genes have been reported in patients with CGL.
|
12826327 |
2003 |