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rs11575937
|
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|
0.100 |
GeneticVariation |
BEFREE |
We identified 16 individuals carrying the p.R482Q pathogenic variant in LMNA associated with Dunnigan familial partial lipodystrophy.
|
31836692 |
2020 |
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rs57920071
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The hot-spot lamin A R482W mutation causing familial partial lipodystrophy of Dunnigan-type (FPLD2), affects lamin A association with chromatin at the nuclear periphery and in the nuclear interior, and is associated with 3-dimensional (3D) rearrangements of chromatin.
|
30057899 |
2018 |
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rs57920071
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The p.R482W hotspot mutation in A-type nuclear lamins causes familial partial lipodystrophy of Dunnigan-type (FPLD2), a lipodystrophic syndrome complicated by early onset atherosclerosis.
|
29438482 |
2018 |
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rs57920071
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The study involved four subjects with familial partial lipodystrophy who had a novel PPARG mutation (H449L) and six subjects with classic codon 482 LMNA mutations (R482W).
|
26756202 |
2016 |
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rs11575937
|
|
|
0.100 |
GeneticVariation |
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 |
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rs57920071
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.
|
25524705 |
2015 |
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rs11575937
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension.
|
23313286 |
2013 |
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rs57920071
|
|
|
0.100 |
GeneticVariation |
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 |
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rs11575937
|
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|
0.100 |
GeneticVariation |
BEFREE |
A genetic test revealed the presence of a heterozygous LMNA gene mutation: c.1445G>A, consistent with the "hot spot" for FPLD.
|
20625965 |
2010 |
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rs57920071
|
|
|
0.100 |
GeneticVariation |
BEFREE |
This oligomerization affects the interaction properties of the C-terminal domain with DNA as shown by gel retardation assays and causes a DNA-interaction pattern that is distinct from the classical R482W FPLD mutant.
|
19220582 |
2009 |
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rs11575937
|
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|
0.100 |
GeneticVariation |
BEFREE |
Both sisters were found to be heterozygous for the R482Q mutation in the lamin A/C gene (LMNA) gene, establishing the definitive diagnosis as Dunnigan-type familial partial lipodystrophy complicated by severe insulin resistance and secondary PCOS.
|
18728124 |
2008 |
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rs57920071
|
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|
0.100 |
GeneticVariation |
BEFREE |
Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism.
|
17524034 |
2007 |
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rs57920071
|
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|
0.100 |
GeneticVariation |
BEFREE |
In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutations, we have studied the molecular organization of GFP-tagged lamin A and lamin C mutants R453W and R386K, found in Emery-Dreifuss muscular dystrophy (EDMD), and lamin A and lamin C mutant R482W, found in patients with Dunnigan-type familial partial lipodystrophy (FPLD).
|
15748902 |
2005 |
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rs57920071
|
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|
0.100 |
GeneticVariation |
BEFREE |
In this study we characterized the neuromuscular and cardiac phenotypes of patients bearing the heterozygous LMNA R482W mutation, which is the most frequent genotype associated with the familial partial lipodystrophy of the Dunnigan type (FPLD).
|
15531479 |
2004 |
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rs11575937
|
|
|
0.100 |
GeneticVariation |
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 |
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rs11575937
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We studied 35 nondiabetic adult FPLD subjects (of whom 24 were women) with either the LMNA R482Q or R482W missense mutations and 51 matched normal first-degree relatives (of whom 27 were women).
|
12524233 |
2003 |
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rs57920071
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation.
|
12669268 |
2003 |
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rs57920071
|
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|
0.100 |
GeneticVariation |
BEFREE |
We report a 24-year-old patient with FPLD caused by a mutation in the LMNA gene (R482W) treated with 12 months of rosiglitazone.
|
14510863 |
2003 |
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rs57920071
|
|
|
0.100 |
GeneticVariation |
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 |
|
rs57920071
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We studied 35 nondiabetic adult FPLD subjects (of whom 24 were women) with either the LMNA R482Q or R482W missense mutations and 51 matched normal first-degree relatives (of whom 27 were women).
|
12524233 |
2003 |
|
rs57920071
|
|
|
0.100 |
GeneticVariation |
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 |
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rs11575937
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We have localized a gene for FPLD to chromosome 1q21-q23, and it has recently been proposed that nuclear lamin A/C is altered in FPLD, on the basis of a novel missense mutation (R482Q) in five Canadian probands.
|
10739751 |
2000 |
|
rs11575937
|
|
|
0.100 |
GeneticVariation |
BEFREE |
DNA sequencing of LMNA in five Canadian FPLD probands indicated that each had a novel missense mutation, R482Q, which co-segregated with the FPLD phenotype and was absent from 2000 normal alleles ( P = 1.1 x 10(-13)).
|
10587585 |
2000 |
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rs11575937
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We analyzed the relationship between plasma leptin and the rare LMNA R482Q mutation in 23 adult FPLD subjects compared with 25 adult family controls with normal LMNA in an extended Canadian FPLD kindred.
|
10999791 |
2000 |
|
rs72551364
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Impaired peroxisome proliferator-activated receptor gamma function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy.
|
17312272 |
2007 |