|
rs60310264
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Mechanics in human fibroblasts and progeria: Lamin A mutation E145K results in stiffening of nuclei.
|
27677907 |
2017 |
|
rs60310264
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased elastic modulus.
|
21941106 |
2013 |
|
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 |
|
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 |
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 |
|
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 |
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 |
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 |
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 |
|
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 |
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 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Our results suggest that the p.S143F progeria mutation has a severe impact not only on the structure of the lamina but also on the organization of interphase chromatin domains and transcription.
|
25738644 |
2015 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
BEFREE |
The S143F lamin A/C point mutation causes a phenotype combining features of myopathy and progeria.
|
17881656 |
2007 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
BEFREE |
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
|
15622532 |
2005 |
|
rs59267781
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Our data show that the progerin 5'SS is used at low yield in the absence of HGPS mutation, whereas utilization of the LAΔ35 5'SS is dependent upon the presence of the c.1868C>G mutation.
|
26670336 |
2016 |
|
rs59267781
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We describe in this report the rare association of osteosarcoma and slowly progressing progeria in an 11-year-old girl carrying a truncating heterozygous c.1868C > G (p.T623S) prelamin A mutation.
|
17618517 |
2007 |
|
rs59886214
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We describe a patient with the heterozygous LMNA mutation c.1821G>A, leading to neonatal progeria with death in the first year of life.
|
22419169 |
2012 |
|
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 |
|
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 |
|
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 |
|
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 |