|
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 |
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 |
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 |
Progeroid syndromes induced by mutations in lamin A or in its interactors - named progeroid laminopathies - are model systems for the dissection of the molecular pathways causing physiological and premature aging.
|
29936894 |
2018 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LMNA gene, encoding A-type lamins, have been associated with at least 15 distinct diseases collectively termed laminopathies, including muscle, metabolic and neurological disorders, and premature aging syndrome.
|
29800922 |
2018 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the lamin A gene cause various premature aging syndromes, including Hutchinson-Gilford progeria syndrome (HGPS) and atypical Werner syndrome.
|
28423660 |
2017 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Progerin, a C-terminal truncated lamin A mutant, causes premature aging termed Hutchinson-Gilford Progeria Syndrome (HGPS).
|
28229933 |
2017 |
|
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 |
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 |
Hutchinson-Gilford progeria syndrome (HGPS) was the first premature aging syndrome linked to LMNA mutation and its molecular bases have been deeply investigated.
|
25649378 |
2015 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.
|
23666920 |
2013 |
|
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 |
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 |
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 |