|
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 |
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 |
|
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 |
|
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 |
|
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 |
HGPS is due to a single-base substitution in exon 11 of the LMNA gene (c.1824C>T) leading to the production of a toxic form of the prelamin A protein called progerin.
|
26890144 |
2016 |
|
rs142000963
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The c.1930C > T (R644C) missense mutation has previously been reported in eight unrelated patients with variable features including left ventricular hypertrophy, limb girdle muscle weakness, dilated cardiomyopathy and atypical progeria.
|
18478590 |
2008 |
|
rs267607547
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA.
|
16825282 |
2006 |
|
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 |
|
rs56673169
|
|
|
0.710 |
GeneticVariation |
BEFREE |
By studying a family with homozygous LMNA mutation (K542N), we showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C. Here, we aimed to elucidate the molecular mechanisms underlying the pathogenesis in both, lamin A- (sporadic) and lamin A and C-related (hereditary) HGPS.
|
21738662 |
2011 |
|
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 |
|
rs57318642
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Homozygous mutation R527C in LMNA yields atypical HGPS, and it suggests an autosomal recessive inheritance in this family.
|
19432833 |
2009 |
|
rs57318642
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.
|
18796515 |
2008 |
|
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 |
|
rs57629361
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA.
|
16825282 |
2006 |
|
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 |
|
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 |
|
rs58596362
|
|
|
0.790 |
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 |
|
rs58596362
|
|
|
0.790 |
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 |
|
rs58596362
|
|
|
0.790 |
GeneticVariation |
BEFREE |
Analysis of samples from six patients with Hutchinson-Gilford progeria syndrome showed that the c.1824C>T, p.G608G mutation is located in both the C and the T allele, which might account for the variability in phenotype seen among HGPS patients.
|
21980471 |
2011 |
|
rs58596362
|
|
|
0.790 |
GeneticVariation |
BEFREE |
Most cases of HGPS are due to a heterozygous silent mutation (c.1824C>T; p.Gly608Gly) that enhances the use of an internal 5' splice site (5'SS) in exon 11 of the LMNA pre-mRNA and leads to the production of a truncated protein (progerin) with a dominant negative effect.
|
21875900 |
2011 |
|
rs58596362
|
|
|
0.790 |
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 |
|
rs58596362
|
|
|
0.790 |
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 |
|
rs58596362
|
|
|
0.790 |
GeneticVariation |
BEFREE |
In this study, we analyzed the mandibular molars of a tissue-specific mouse model that overexpresses the most common HGPS mutation (LMNA, c.1824C > T, p.G608G) in odontoblasts.
|
30337599 |
2018 |
|
rs58596362
|
|
|
0.790 |
GeneticVariation |
BEFREE |
The LMNA p.G608G mutation results in a uniform phenotype through early to mid-childhood, in keeping with that described in classical HGPS.
|
17459035 |
2007 |