|
rs57920071
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
FPLD2 LMNA mutation R482W dysregulates iPSC-derived adipocyte function and lipid metabolism.
|
29108996 |
2018 |
|
rs57920071
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
In contrast, both overexpression of LMNA R482W in primary human preadipocytes and endogenous expression of A-type lamins R482W in FPLD2 patient fibroblasts, reduce A-type lamins-SREBP1 in situ interactions and upregulate a large number of SREBP1 target genes.
|
25524705 |
2015 |
|
rs57920071
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
We propose a model where the FPLD2 lamin A p.R482W mutation elicits, through up-regulation of FXR1P, a remodeling of an adipogenic differentiation program into a myogenic program.
|
24108105 |
2014 |
|
rs57920071
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs57920071
|
|
Familial Partial Lipodystrophy, Type 2
|
T |
0.830 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs11575937
|
|
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 |
|
rs11575937
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
|
19220582 |
2009 |
|
rs11575937
|
|
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 |
|
rs11575937
|
|
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 |
|
rs11575937
|
|
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 |
|
rs11575937
|
|
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 |
|
rs11575937
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
|
12196663 |
2002 |
|
rs11575937
|
|
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 |
|
rs11575937
|
|
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 |
|
rs11575937
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
|
10655060 |
2000 |
|
rs11575937
|
|
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 |
|
rs11575937
|
|
Familial Partial Lipodystrophy, Type 2
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28928900
|
|
Familial Partial Lipodystrophy, Type 2
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28928900
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs56793579
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs56793579
|
|
Familial Partial Lipodystrophy, Type 2
|
G |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs57520892
|
|
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 |
|
rs57520892
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
|
19220582 |
2009 |
|
rs57520892
|
|
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 |
|
rs57520892
|
|
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 |