|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.
|
24485160 |
2014 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
|
12629077 |
2003 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
|
15372542 |
2004 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.
|
12015247 |
2002 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.
|
10739751 |
2000 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
|
12196663 |
2002 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
|
10655060 |
2000 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
|
17250669 |
2007 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
|
10587585 |
2000 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
|
19220582 |
2009 |
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.
|
11792809 |
2001 |
|
Familial partial lipodystrophy
|
|
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 |
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension.
|
23313286 |
2013 |
|
Familial partial lipodystrophy
|
|
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 |
|
Familial partial lipodystrophy
|
|
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 |
|
Familial partial lipodystrophy
|
|
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 |
|
Familial partial lipodystrophy
|
|
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 |
|
Familial partial lipodystrophy
|
|
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 |
|
Familial partial lipodystrophy
|
|
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 |
|
Familial partial lipodystrophy
|
|
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 |
|
Familial partial lipodystrophy
|
|
0.100 |
GeneticVariation
|
BEFREE |
We identified 16 individuals carrying the p.R482Q pathogenic variant in LMNA associated with Dunnigan familial partial lipodystrophy.
|
31836692 |
2020 |
|
Lipodystrophy
|
|
0.050 |
GeneticVariation
|
BEFREE |
Thus, LMNA R482Q was associated with lipodystrophy, hyperinsulinemia, dyslipidemia, diabetes, and hypertension.
|
10810087 |
2000 |
|
Lipodystrophy
|
|
0.050 |
GeneticVariation
|
BEFREE |
The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and not lamin C, is likely to underlie FPLD, as R584H occurs within LMNA sequence that is specific for lamin A; 3) the V440M mutation may not cause lipodystrophy on its own; 4) compound heterozygosity for V440M and R482Q is associated with a relatively more severe FPLD phenotype, but not with complete lipodystrophy; and 5) variation in the severity of the phenotype might be related to environmental factors.
|
10999845 |
2000 |
|
Lipodystrophy
|
|
0.050 |
GeneticVariation
|
BEFREE |
Lipodystrophy associated with LMNA mutation R482L causes loss of fat tissue.
|
29040816 |
2018 |
|
Lipodystrophy
|
|
0.050 |
GeneticVariation
|
BEFREE |
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
|
23313286 |
2013 |