Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 30 year-old male patient with FPLD2 who had a heterozygous p.R349W (c.1045C > T) mutation in the LMNA gene using non-integrating episomal vector technique.
|
31794942 |
2020 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
LMNA-associated familial partial lipodystrophy (FPLD2) comprises insulin resistance, muscle hypertrophy and lipoatrophy.
|
30165155 |
2019 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the phenotypic heterogeneity and glucocorticoid sensitivity in FPLD2 patients exhibiting the p.R482W or p.R644C LMNA mutations.
|
30954027 |
2019 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In patients with unexplained pancreatitis and hypertriglyceridemia, lipodystrophies such as familial partial lipodystrophy type 2 (FPLD2; Dunnigan type, due to LMNA mutations) should be considered.
|
30296183 |
2019 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
In agreement with these in vitro results indicating conversion of FPLD2 brown preadipocytes toward the white lineage, adipose tissue from FPLD2 patient neck, an area of brown adipogenesis, showed a white phenotype reminiscent of its brown origin.
|
31375660 |
2019 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial partial lipodystrophy type 2 (FPLD2) is caused by an autosomal dominant mutation in the LMNA gene.
|
29108996 |
2018 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In our experience, PCOS secondary to a missense mutation in the LMNA gene, known as familial partial lipodystrophy type 2 (FPLD2), is the most frequent form of PCOS secondary to severe IR due to genetically determined lipodystrophy.
|
30131000 |
2018 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mechanisms by which LMNA mutations lead to the adipose specific FPLD2 phenotype have yet to be determined in detail.
|
28872940 |
2017 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Type-2 familial partial lipodystrophy (FPLD2) is a rare autosomal dominant lipodystrophic disorder due to mutations in <i>LMNA</i> encoding lamin A/C, a key epigenetic regulator.
|
28408391 |
2017 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
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 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial partial lipodystrophy type 2 (FPLD2) is a rare disorder associated with LMNA gene mutations.
|
27778252 |
2017 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
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 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
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 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
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
|
disease |
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 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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, Type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Type 2 familial partial lipodystrophy (FPLD2) is a rare adipose tissue (AT) disease caused by mutations in LMNA, in which lipomas appear occasionally.
|
21883346 |
2012 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
A few specific mutations in the lamin A/C gene cause a disease with remarkably different clinical features: FPLD, or familial partial lipodystrophy (Dunnigan-type), which mainly affects adipose tissue.
|
21989830 |
2012 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.
|
21346069 |
2011 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The genetics of dilated cardiomyopathy.
|
20186049 |
2010 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Type 2 familial partial lipodystrophy (FPLD) is an autosomal-dominant lamin A/C-related disease associated with exercise intolerance, muscular pain, and insulin resistance.
|
20130076 |
2010 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.
|
19220582 |
2009 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Type 2 familial partial lipodystrophy (FPLD2) is characterised by loss of fat in the limbs and buttocks and results from mutations in the LMNA gene.
|
18805829 |
2009 |
Familial Partial Lipodystrophy, Type 2
|
0.800 |
Biomarker
|
disease |
CTD_human |
Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy.
|
19793595 |
2009 |