Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We identified 16 individuals carrying the p.R482Q pathogenic variant in LMNA associated with Dunnigan familial partial lipodystrophy.
|
31836692 |
2020 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Familial partial lipodystrophy, Dunnigan variety (FPLD2) is a rare autosomal-dominant disorder due to heterozygous missense lamin A/C (LMNA) mutations.
|
30418556 |
2019 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants.
|
31194872 |
2019 |
Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
LMNA-associated familial partial lipodystrophy (FPLD2) comprises insulin resistance, muscle hypertrophy and lipoatrophy.
|
30165155 |
2019 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Correction to: Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C.
|
30694351 |
2019 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
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 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included.
|
29044029 |
2018 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have identified various pathogenic variants scattered throughout the LMNA and PPARG genes in Turkish patients with FPLD.
|
28641778 |
2017 |
Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
The diagnosis of familial partial lipodystrophy was made after the discovery of the lamin A/C gene 20 years later.
|
27026223 |
2016 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A variety of missense mutations in LMNA (the gene for lamin C and prelamin A) cause familial partial lipodystrophy (FPLD), a disease associated with reduced adipose tissue, particularly in the limbs.
|
27841971 |
2016 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
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 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Dunnigan type familial partial lipodystrophy (FPLD2; OMIM#151660) is caused in most cases by the A-type lamin R482W mutation.
|
25524705 |
2015 |
Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
In the acquired forms, genes such as LMNA, PPARG, CIDEC (cell-death-inducing DNA fragmentation factor a-like effector c) and PLIN1 are heavily involved in familial partial lipodystrophy (FPLD) type 2 (also known as the Dunnigan-Variety) and WRN along with RECQL5 in Werner Syndrome (WS).
|
24152769 |
2014 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis was carried out of the LMNA gene in a teenage girl with an FPLD phenotype.
|
24485160 |
2014 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
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 |
Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
We report a genetic link between LMNA and biopsy-proven FSGS in a large pedigree with FPLD.
|
24080738 |
2013 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Supporting this model, SUMO1-modification of the lamin A tail is reduced by two FPLD-causing mutations, G465D and K486N, and by single mutations in acidic residues E460 and D461.
|
23243001 |
2013 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We describe the first cases of AR-EDMD and autosomal dominant familial partial lipodystrophy (FPLD) in the Hutterite population resulting from homozygous or heterozygous R482Q mutations in the lamin A/C gene (LMNA).
|
23313286 |
2013 |
Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report a genetic link between LMNA and biopsy-proven FSGS in a large pedigree with FPLD.
|
24080738 |
2013 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Some mutations in LMNA, encoding A-type lamins, are responsible for Dunnigan-type-familial partial lipodystrophy (FPLD2), with altered fat distribution and metabolism.
|
23846499 |
2013 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Among the lipodystrophies, LMNA mutations have been reported most frequently in patients with familial partial lipodystrophy (FPLD) of the Dunnigan variety; however, phenotypic heterogeneity in the pattern of body fat loss has been observed.
|
22700598 |
2012 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Histological and molecular features of lipomatous and nonlipomatous adipose tissue in familial partial lipodystrophy caused by LMNA mutations.
|
21883346 |
2012 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CIDEC is the disease gene for autosomal recessive, FPL and LMNA and ZMPSTE24 for autosomal recessive, mandibuloacral dysplasia-associated lipodystrophy.
|
21865368 |
2011 |
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In addition, the tail regions of A-type lamin variants that occur in Dunnigan-type familial partial lipodystrophy of (R482W) and Hutchison Gilford progeria syndrome (∆607-656) bind to the SREBP1 polypeptide in vitro, and the corresponding FLAG-tagged full-length lamin variants co-immunoprecipitate the SREBP1 polypeptide in cells.
|
21993218 |
2011 |