×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
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
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
BEFREE
To evaluate the phenotypic heterogeneity and glucocorticoid sensitivity in FPLD2 patients exhibiting the p.R482W or p.R644C LMNA mutations.
30954027
2019
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
19220582
2009
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
BEFREE
The objective of the study was to carry out mutational analysis of LMNA in two sisters with a particularly severe FPLD2 phenotype.
16636128
2006
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
BEFREE
The mechanisms by which LMNA mutations lead to the adipose specific FPLD2 phenotype have yet to be determined in detail.
28872940
2017
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
BEFREE
The high prevalence of early and severe cardiovascular outcomes in these patients suggests that, in addition to metabolic risk factors, FPLD2 -associated LMNA mutations could have a direct role on the vascular wall cells.
23846499
2013
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
Biomarker
GENOMICS_ENGLAND
The genetics of dilated cardiomyopathy.
20186049
2010
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
Biomarker
BEFREE
The Dunnigan syndrome [FPLD2 (familial partial lipodystrophy of the Dunnigan type)] is due to mutations in LMNA encoding the lamin A/C , belonging to the complex group of laminopathies that could comprise muscular and cardiac dystrophies, neuropathies and syndromes of premature aging.
16246048
2005
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
Biomarker
CTD_human
Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene.
14510863
2003
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
Biomarker
GENOMICS_ENGLAND
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
27532257
2017
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
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
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
BEFREE
Our data demonstrate that lamin A/C gene mutations responsible for FPLD2 and related lipodystrophies are associated with transforming growth factor-β activation and an extracellular matrix imbalance in adipose tissue, suggesting that targeting these alterations could be the basis of novel therapies.
27845687
2017
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
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
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GermlineCausalMutation
ORPHANET
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
10587585
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
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
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
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
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
CausalMutation
CLINVAR
New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.
17711925
2007
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GermlineCausalMutation
ORPHANET
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
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
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
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
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
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
Biomarker
CTD_human
Long-term treatment experience in a subject with Dunnigan-type familial partial lipodystrophy: efficacy of rosiglitazone.
16241930
2005
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
10655060
2000
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
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
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
GeneticVariation
UNIPROT
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
12196663
2002
×
Entrez Id:
4000
Gene Symbol:
LMNA
LMNA
Familial Partial Lipodystrophy, Type 2
0.800
Biomarker
CTD_human
Lack of mutations in LMNA, its promoter region, and the cellular retinoic acid binding protein II (CRABP II) in HIV associated lipodystrophy.
12844477
2003