|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations could not be detected in lamin A/C in one FPLD family in which there was linkage to chromosome 1q21-q23.
|
10739751 |
2000 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
It is still not at all clear how defects in these nuclear membrane proteins are related to the phenotype, even less clear that LMNA mutations can also be associated with familial dilated cardiomyopathy with no weakness, and even familial partial lipodystrophy with diabetes mellitus and coronary heart disease!
|
10838246 |
2000 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
It also remains to be established whether the insulin resistance in FPLD is a consequence of the reduced plasma leptin or of another functional change resulting from mutant LMNA.
|
10999791 |
2000 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.
|
10999845 |
2000 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Because FPLD is an extreme example of genetically disturbed adipocyte differentiation, it is possible that common variation in LMNA is associated with obesity-related phenotypes.
|
11015599 |
2000 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Lamin A/C mutations cause the autosomal-dominant form of EDMD, limb-girdle muscular dystrophy with atrioventricular conduction disturbances (type 1B), hypertrophic cardiomyopathy and Dunnigan-type familial partial lipodystrophy.
|
11073359 |
2000 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Although FPLD mutations are predominantly localized in exon 8 of LMNA, the finding of a novel mutation at codon 584, together with the R582H heterozygous substitution recently described, confirms that the C-terminal region specific to the lamin A isoform is a second susceptibility region for mutations in FPLD.
|
11078466 |
2000 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Twenty-three different mutations of LMNA have so far been shown to cause autosomal-dominant Emery-Dreifuss muscular dystrophy (EDMD2), three mutations were reported to cause limb-girdle muscular dystrophy (LGMD1B), eight mutations are known to result in dilated cardiomyopathy (CMD1A), and seven mutations were reported to cause familial partial lipodystrophy (FPL).
|
11102973 |
2000 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.
|
11231979 |
2001 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
AS can be attributed to familial factors and that genetic variation in LMNA might not only underlie rare cases of FPLD, but may also contribute to variation in adipocyte size in the general population.
|
11243729 |
2001 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
One form of lipodystrophy, namely Dunnigan-type familial partial lipodystrophy (FPLD) was shown to result from mutations in the LMNA gene, which encodes nuclear lamins A and C. Although the relationship between the mutations in the nuclear envelope and insulin resistance is unclear at present, these findings might eventually be shown to have relevance for the common insulin resistance syndrome and for drug-associated lipodystrophies.
|
11286783 |
2001 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
All LMNA mutation carriers had FPLD with insulin resistance.
|
11342468 |
2001 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations within the LMNA gene on chromosome 1q21.2 were recently reported to result in the phenotype of familial partial lipodystrophy.
|
11344241 |
2001 |
|
Familial partial lipodystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
We conclude that mutations in other constituent proteins of the nuclear envelope are not present in subjects with non-LMNA-associated FPLD.
|
11393540 |
2001 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Because familial partial lipodystrophy is an extreme example of genetically disturbed adipocyte differentiation, it is possible that common variation in LMNA is associated with obesity-related phenotypes.
|
11397881 |
2001 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LMNA gene, which encodes nuclear lamins A and C, underlie both Emery-Dreifuss muscular dystrophy (EMD2) and Dunnigan-type familial partial lipodystrophy (FPLD).
|
11501948 |
2001 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Gene analysis of the proband revealed Tyr481His mutation in the exon 8 of lamin A/C (LMNA) gene which is adjacent to the codon mutated in reported cases of familial partial lipodystrophy.
|
11525883 |
2001 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lamin A (LMNA) gene are associated with the tissue-specific diseases Emery-Dreifuss muscular dystrophy (EDMD), limb girdle muscular dystrophy (LGMD-1B), dilated cardiomyopathy with conduction system disease (DCM-CD), and Dunnigan's familial partial lipodystrophy (FPLD).
|
11709282 |
2001 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recently, lamin A/C gene mutations were found in patients with FPL, Dunnigan variety.
|
11788685 |
2002 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
By contrast, lamin A and C molecules harboring a point mutation (R482W), which gives rise to a dominant form of familial partial lipodystrophy, behave in a manner that is indistinguishable from wild-type lamins A and C, at least with respect to targeting and assembly within the nuclear lamina.
|
11792810 |
2001 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The binding of lamin A to SREBP1 was noticeably reduced by FPLD mutations.
|
11929849 |
2002 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel genetic defects in the LMNA gene in two families with the Dunnigan variety of familial partial lipodystrophy, cardiac conduction system defects, and other manifestations related to cardiomyopathy suggest the occurrence of a multisystem dystrophy syndrome due to LMNA mutations.
|
12015247 |
2002 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Novel genetic defects in the LMNA gene in two families with the Dunnigan variety of familial partial lipodystrophy, cardiac conduction system defects, and other manifestations related to cardiomyopathy suggest the occurrence of a multisystem dystrophy syndrome due to LMNA mutations.
|
12015247 |
2002 |
|
Familial partial lipodystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The LMNA gene encoding two nuclear envelope proteins (lamins A and C [lamin A/C]) maps to chromosome 1q21 and has been associated with five distinct pathologies, including Dunnigan-type familial partial lipodystrophy, a condition that is characterized by subcutaneous fat loss and is invariably associated with insulin resistance and diabetes.
|
12075506 |
2002 |