|
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 |
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 |
|
rs58596362
|
|
T |
0.790 |
CausalMutation |
CLINVAR |
Altered splicing in prelamin A-associated premature aging phenotypes.
|
17076270 |
2006 |
|
rs58596362
|
|
T |
0.790 |
CausalMutation |
CLINVAR |
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
|
12714972 |
2003 |
|
rs58596362
|
|
T |
0.790 |
CausalMutation |
CLINVAR |
Lamin a truncation in Hutchinson-Gilford progeria.
|
12702809 |
2003 |
|
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 |
UNIPROT |
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.
|
23666920 |
2013 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
LMNA mutation in progeroid syndrome in association with strokes.
|
21791255 |
2012 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.
|
22355414 |
2012 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
|
19933576 |
2010 |
|
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 |
UNIPROT |
We identified the underlying cause to be a hitherto unreported de novo missense mutation in the LMNA gene (S143F) encoding the nuclear envelope proteins lamins A and C. Although LMNA mutations have been known to cause Hutchinson-Gilford progeria syndrome and Emery-Dreifuss muscular dystrophy, this is the first report of a patient combining features of these two phenotypes because of a single mutation in LMNA.
|
15622532 |
2005 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
BEFREE |
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
|
15622532 |
2005 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
|
15286156 |
2004 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
|
15060110 |
2004 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
|
12768443 |
2003 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
|
12714972 |
2003 |
|
rs58912633
|
|
|
0.730 |
GeneticVariation |
UNIPROT |
LMNA mutations in atypical Werner's syndrome.
|
12927431 |
2003 |
|
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 |
|
rs59267781
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.
|
15121795 |
2004 |
|
rs267607547
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.
|
24639906 |
2014 |
|
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 |