|
rs1190613858
|
|
|
0.060 |
GeneticVariation |
BEFREE |
A silent point mutation at position 1824 (C1824T) of the LMNA gene, generating a truncated form of lamin A (progerin), has been shown to be the cause of most cases of HGPS.
|
25216752 |
2014 |
|
rs1190613858
|
|
|
0.060 |
GeneticVariation |
BEFREE |
HGPS is usually caused by a de novo C1824T mutation that leads to the accumulation of a dominant negative form of lamin-A called progerin.
|
24603298 |
2014 |
|
rs1190613858
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The diagnosis of HGPS is based on the recognition of common clinical features and detection of the recurrent heterozygous c.1824C>T (p.Gly608Gly) mutation within exon 11 in the Lamin A/C encoding gene (LMNA).
|
22991222 |
2012 |
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rs1190613858
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The most prevalent mutation in Hutchinson-Gilford syndrome is C1824T, which activates a cryptic splice donor site to produce an abnormal lamin A protein.
|
22079058 |
2012 |
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rs1190613858
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Our results also reveal a regulatory role of a subset of serine-arginine (SR)-rich proteins, including serine-arginine rich splicing factor 1 (SRSF1) and SRSF6, on utilization of the 5'SS leading to lamin A or progerin production and a modulation of this regulation in the presence of the c.1824C>T mutation is shown directly on HGPS patient cells.
|
21875900 |
2011 |
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rs60934003
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Here we quantitatively examine the composition of the nuclear envelope, as well as the architecture and functions of the cytoskeleton in cells derived from two laminopathic mouse models, including Hutchinson-Gilford progeria syndrome (Lmna(L530P/L530P)) and Emery-Dreifuss muscular dystrophy (Lmna(-/-)).
|
18790843 |
2008 |
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rs60934003
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mouse models, such as Lmna knockout, Zmpste24 knockout, and Lmna L530P knockin will help the study of progeria.
|
15479179 |
2004 |
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rs57077886
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Patients with the heterozygous LMNA p.T10I mutation have distinct clinical features and significantly worse metabolic complications compared with other patients with APS as well as patients with Hutchinson-Gilford progeria syndrome.
|
29267953 |
2018 |
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rs267607591
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Collectively, the data provide credence to the causal role of p.Asp300Asn mutation in the pathogenesis of non-syndromic cardiac progeria.
|
29047356 |
2017 |
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rs57920071
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs57520892
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50).
|
16440304 |
2006 |
|
rs58571998
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutant constructs used included the laminopathy-inducing lamin A rod domain mutants N195K, E358K, M371K, R386K, the tail domain mutants G465D, R482L, and R527P, and the Hutchinson-Gilford progeria syndrome-causing deletion mutant, progerin (LaA delta50).
|
16440304 |
2006 |