|
Premature aging syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Progerin is a mutant form of the nucleoskeletal protein lamin A, and its expression results in the rare premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS).
|
26171741 |
2015 |
|
Premature aging syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Here, we identified E3 ubiquitin ligase Smurf2 as a physiological regulator of lamin A and its disease-associated mutant form progerin (LAΔ50), whose expression underlies the development of Hutchinson-Gilford progeria syndrome (HGPS), a devastating premature aging syndrome.
|
29405587 |
2018 |
|
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 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches.
|
18513784 |
2008 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results indicate that unprocessed prelamin A and truncated lamin A act dominant negatively to perturb DNA damage response and repair, resulting in genomic instability which might contribute to laminopathy-based premature aging.
|
15980864 |
2005 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome.
|
18554282 |
2008 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Physiological and premature aging are frequently associated with an accumulation of prelamin A, a precursor of lamin A, in the nuclear envelope of various cell types.
|
30282816 |
2018 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data provide clues as to the cellular basis for premature aging in HGPS and support the view that cellular senescence and tissue homeostasis are important factors in the normal aging process.
|
15130666 |
2004 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the nuclear structural protein lamin A cause the premature aging syndrome Hutchinson-Gilford progeria (HGPS).
|
16645051 |
2006 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
LMNA encodes the nuclear lamina proteins lamin A/C through alternative splicing, and aberrant splicing of exon 11 leads to the premature ageing disease, Hutchinson-Gilford progeria syndrome.
|
24040437 |
2013 |
|
Premature aging syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the nuclear envelope proteins emerin and lamin A cause a number of diseases including premature aging syndromes, muscular dystrophy, and cardiomyopathy.
|
18596264 |
2008 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The lobulated nuclei in tau-expressing SH-SY5Y cells seem to more resemble the multilobular phenotype of the nuclear envelope seen in Lamin-mutated cells from those pathological conditions leading to premature aging.
|
23635409 |
2013 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alterations of the lamin A/C (LMNA) gene are associated with different clinical entities, including disorders that affect skeletal and cardiac muscle, peripheral nerves, metabolism, bones, and disorders that cause premature aging.
|
23450819 |
2013 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A conserved splicing mechanism of the LMNA gene controls premature aging.
|
21875900 |
2011 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
LMNA mutations can also lead to several other disorders, collectively termed laminopathies, involving heart, fat, nerve, bone, and skin tissues, and some premature ageing syndromes.
|
17536044 |
2007 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
LMNA mutations lead to degenerative disorders known as laminopathies, including the premature aging disease Hutchinson-Gilford progeria syndrome.
|
31647095 |
2019 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.
|
23666920 |
2013 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although the LMNA gene defect responsible for this "premature aging syndrome" has been identified, biological mechanisms underlying the accelerated atherosclerosis are unknown.
|
15756215 |
2005 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Over 300 mutations in the LMNA gene, encoding A-type lamins, are associated with 15 human degenerative disorders and premature aging syndromes.
|
24153156 |
2014 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria (HGPS) is a premature aging syndrome associated with LMNA mutations.
|
16261260 |
2005 |