Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
One example is familial partial lipodystrophy (FPLD), a rare monogenic form of insulin resistance caused by mutations in either LMNA, encoding nuclear lamin A/C (subtype FPLD2), or in PPARG, encoding peroxisomal proliferator-activated receptor-gamma (subtype FPLD3).
|
15890790 |
2005 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Because FPLD is an extreme example of genetically disturbed adipocyte differentiation, it is possible that common variation in LMNA is associated with obesity-related phenotypes.
|
11015599 |
2000 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel genetic defects in the LMNA gene in two families with the Dunnigan variety of familial partial lipodystrophy, cardiac conduction system defects, and other manifestations related to cardiomyopathy suggest the occurrence of a multisystem dystrophy syndrome due to LMNA mutations.
|
12015247 |
2002 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Three such point mutations, G465D (FPLD), R482L, (FPLD), or R527P (EDMD), were introduced by site-specific mutagenesis in the C-terminal tail domain of a FLAG-tagged full-length lamin A construct.
|
12729796 |
2003 |
Familial partial lipodystrophy
|
0.600 |
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 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.
|
18041775 |
2007 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recently, lamin A/C gene mutations were found in patients with FPL, Dunnigan variety.
|
11788685 |
2002 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial partial lipodystrophy, Dunnigan variety (FPLD), is an autosomal dominant disorder due to missense mutations in the lamin A/C (LMNA) gene encoding nuclear lamina proteins.
|
12716787 |
2003 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
She was subsequently found to have familial partial lipodystrophy (FPLD2, OMIM #151660) caused by an R482Q mutation in the LMNA gene encoding lamin A/C.
|
26662654 |
2015 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have studied anthropometrical, clinical, and metabolic gender differences in a Spanish family with FPLD resulting from a lamin A/C gene mutation, R482W.
|
12669268 |
2003 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lamin A (LMNA) gene are associated with the tissue-specific diseases Emery-Dreifuss muscular dystrophy (EDMD), limb girdle muscular dystrophy (LGMD-1B), dilated cardiomyopathy with conduction system disease (DCM-CD), and Dunnigan's familial partial lipodystrophy (FPLD).
|
11709282 |
2001 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Among the lipodystrophies, LMNA mutations have been reported most frequently in patients with familial partial lipodystrophy (FPLD) of the Dunnigan variety; however, phenotypic heterogeneity in the pattern of body fat loss has been observed.
|
22700598 |
2012 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial partial lipodystrophy 2 (FPLD2) is due to mutations in the LMNA gene.
|
18031308 |
2008 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We analyzed differentiation of 3T3-L1 preadipocytes to adipocytes in cells overexpressing wild-type lamin A as well as lamin A with amino acid substitutions at position 482 that cause FPLD.
|
16415042 |
2006 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family.
|
24002959 |
2013 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Rare mutations in LMNA were shown to cause familial partial lipodystrophy, a syndrome characterized by regional loss of adipose tissue, glucose intolerance, and dyslipidemia, making LMNA a candidate gene for insulin-resistant diabetes.
|
12145775 |
2002 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LMNA encoding lamin A and C proteins cause monogenic syndromes characterized by muscular dystrophy and familial partial lipodystrophy.
|
17327437 |
2007 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
By contrast, lamin A and C molecules harboring a point mutation (R482W), which gives rise to a dominant form of familial partial lipodystrophy, behave in a manner that is indistinguishable from wild-type lamins A and C, at least with respect to targeting and assembly within the nuclear lamina.
|
11792810 |
2001 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial partial lipodystrophy, Dunnigan variety (FPLD2) is a rare autosomal-dominant disorder due to heterozygous missense lamin A/C (LMNA) mutations.
|
30418556 |
2019 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Novel genetic defects in the LMNA gene in two families with the Dunnigan variety of familial partial lipodystrophy, cardiac conduction system defects, and other manifestations related to cardiomyopathy suggest the occurrence of a multisystem dystrophy syndrome due to LMNA mutations.
|
12015247 |
2002 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The aim of our study was to compare the fertility and occurrence of obstetrical complications of women with familial partial lipodystrophy due to LMNA (lamin A/C) mutations with those of nonaffected relatives, women from the general population, and women with polycystic ovary syndrome (PCOS).
|
18364375 |
2008 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease.
|
19011997 |
2009 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
So far, three CGL loci: 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2), Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and caveolin 1 (CAV1) and four FPL loci: lamin A/C (LMNA), peroxisome proliferator-activated receptor gamma (PPARG), v-AKT murine thymoma oncogene homolog 2 (AKT2) and zinc metalloprotease (ZMPSTE24), have been identified.
|
19162222 |
2009 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the LMNA gene have been shown to cause an autosomal dominant form of insulin resistance with familial partial lipodystrophy (PLD), frequently accompanied by diabetes.
|
19859838 |
2009 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Twenty-six subjects (9.7%) were positive for a beta-cell antibody, one subject had familial partial lipodystrophy and the lamin A/C mutation R482W, and two subjects had the mitochondrial mutation A3243G.
|
12832318 |
2003 |