|
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 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LMNA gene encoding lamins A/C are responsible for a variety of disorders, commonly referred to as "laminopathies," including the segmental premature aging syndrome Hutchinson-Gilford progeria.
|
17618517 |
2007 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation of lamin A results in several laminopathies, including Hutchinson-Gilford progeria syndrome (HGPS), a severe premature ageing disorder.
|
18836436 |
2008 |
|
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 |
Advances in molecular genetics of apparently unrelated disorders, involving muscle, heart, nerve, fat, bone, liver, skin tissues and premature ageing, have enriched our knowledge of the diverse phenotypes associated with lamin A/C mutations.
|
15367859 |
2004 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Numerous mutations in the human A-type lamin gene (LMNA) cause the premature aging disease, progeria.
|
19926845 |
2009 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Laminopathies are a heterogeneous group of LMNA-gene-mutation-related clinical disorders associated with alterations of cardiac and skeletal muscle and peripheral nerves, metabolic defects, and premature aging.
|
19882644 |
2010 |
|
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 |
The Dunnigan syndrome [FPLD2 (familial partial lipodystrophy of the Dunnigan type)] is due to mutations in LMNA encoding the lamin A/C, belonging to the complex group of laminopathies that could comprise muscular and cardiac dystrophies, neuropathies and syndromes of premature aging.
|
16246048 |
2005 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Human LMNA gene mutations result in laminopathies that include Emery-Dreifuss muscular dystrophy (AD-EDMD) and Hutchinson-Gilford progeria, the premature aging syndrome (HGPS).
|
22541428 |
2012 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LMNA, the gene encoding A type lamins, cause numerous human diseases, including the segmental premature aging disease Hutchinson-Gilford progeria syndrome (HGPS).
|
16801550 |
2006 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Remarkably, over 400 distinct point mutations have been so far identified throughout the LMNA gene, which result in the development of at least ten distinct human disorders, collectively known as laminopathies, among which is the premature aging disease Hutchinson-Gilford progeria syndrome (HGPS).
|
21871450 |
2012 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we have used an unbiased approach to comparatively map genome-wide interactions of gene promoters with lamin A and progerin, the mutated lamin A isoform responsible for the premature aging disorder Hutchinson-Gilford progeria syndrome (HGPS) in mouse cardiac myoytes and embryonic fibroblasts.
|
22610065 |
2012 |
|
Premature aging syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The premature-ageing disease Hutchinson-Gilford Progeria Syndrome (HGPS) is caused by constitutive production of progerin, a mutant form of the nuclear architectural protein lamin A. Progerin is also expressed sporadically in wild-type cells and has been linked to physiological ageing.
|
18311132 |
2008 |