|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the lamin A/C gene (LMNA) cause several disorders referred to as laminopathies, which include premature aging syndromes, lipodystrophy, and striated muscle disorders.
|
21840938 |
2011 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, we report a novel LMNA p.L306R mutation that leads to previously undescribed hyper-assembly of lamin A, heavy distortion of nuclear shape and that manifests as right ventricular cardiomyopathy and premature aging.
|
25820511 |
2015 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In fibroblasts from patients affected by Hutchinson-Gilford progeria, a severe LMNA-linked syndrome associated with bone resorption, cardiovascular disorders, and premature aging, we found altered modulation of CDKN1A, encoding p21, upon oxidative stress induction, and accumulation of senescence markers during stress recovery.
|
30109767 |
2018 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LMNA, encoding A-type lamins, lead to diverse disorders, collectively called "laminopathies," which affect the striated muscle, cardiac muscle, adipose tissue, skin, peripheral nerve, and premature aging.
|
27220833 |
2016 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LMNA gene encoding lamins A/C are responsible for Hutchinson-Gilford syndrome (HGS), a disorder of premature aging.
|
22079058 |
2012 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We used this approach to identify in mouse embryonic fibroblasts and cardiac myocyte NklTAg cell lines proteins that interact with lamin A and its mutant isoform progerin, which causes the premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS).
|
21327095 |
2012 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This mutant form of lamin A causes premature aging associated with cardiovascular alterations that lead to death at an average age of 14.6 years.
|
30884114 |
2019 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LMNA cause many human diseases, including progeria, a premature aging syndrome, whereas LMNB1 duplication causes adult-onset autosomal dominant leukodystrophy (ADLD).
|
23439683 |
2013 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Association of progerin, the lamin A isoform responsible for the premature aging disorder Hutchinson-Gilford progeria syndrome, with its partners was largely mediated by farnesylation.
|
24623722 |
2014 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the last decade, a number of diseases associated with tissue degeneration and premature aging have been linked with mutations in lamin A or emerin.
|
16246140 |
2005 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the well-known disease called Hutchinson-Gilford Progeria Syndrome due to extensive mutations in LMNA gene, in addition to the systemic phenotype of premature aging, is characterised by the death of patients at around 13 typically for a heart attack or stroke, suggesting again the heart as the main site sensitive to Lamin A/C disfunction.
|
25055884 |
2014 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LMNA encoding the A-type lamins cause several diseases, including those with features of premature aging and skeletal abnormalities.
|
22231515 |
2012 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Progerin, an altered form of lamin A, has been identified as the cause of premature aging in Hutchinson-Gilford Progeria Syndrome (HGPS), and may be a contributing causative factor in normal aging.
|
25587796 |
2015 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the LMNA gene is responsible for the most dramatic form of premature aging, Hutchinson-Gilford progeria syndrome (HGPS).
|
22340368 |
2012 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging.
|
16738054 |
2006 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the rare premature ageing disease, Hutchinson-Gilford progeria syndrome (HGPS), de novo point mutations in LMNA activate a cryptic splice site in exon 11, resulting in a 150 base deletion in LMNA mRNA and accumulation of a truncated protein isoform, progerin.
|
24294364 |
2013 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Aberrant splicing in exon 11 of the LMNA gene causes the premature aging disorder Hutchinson-Gilford Progeria Syndrome.
|
31006814 |
2019 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the nuclear membrane zinc metalloprotease ZMPSTE24 lead to diseases of lamin processing (laminopathies), such as the premature aging disease progeria and metabolic disorders.
|
23539603 |
2013 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by a spontaneous heterozygous mutation in the LMNA gene that codes for the nuclear lamina protein lamin A.
|
16671095 |
2006 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review presents an up-to-date summary of the literature describing new findings on lamin functions in various cellular processes and emphasizes the relationship between the lamins and devastating diseases ranging from premature aging to cancer.
|
22795640 |
2012 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Lamin A/C, laminopathies and premature ageing.
|
18366013 |
2008 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
From immature lamin to premature aging: molecular pathways and therapeutic opportunities.
|
16258283 |
2005 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutants of lamin A cause diseases including the Hutchinson-Gilford progeria syndrome (HGPS) characterized by premature aging.
|
26922519 |
2016 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The strange case of the "lumper" lamin A/C gene and human premature ageing.
|
13129702 |
2003 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
LHGDN |
[The role of lamins and mutations of LMNA gene in physiological and premature aging].
|
17718387 |
2007 |