|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson Gilford Progeria Syndrome (HGPS) is a devastating accelerated aging disease caused by LMNA gene mutation.
|
31834988 |
2020 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we created a mouse model in which progerin, the lamin A mutant protein that causes Hutchinson-Gilford progeria syndrome (HGPS), can be inducibly overexpressed.
|
31833196 |
2020 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The transgenic Lmna<sup>G609G</sup> progeric mouse represents an outstanding animal model for studying the human Hutchinson-Gilford Progeria Syndrome (HGPS) caused by a mutation in the LMNA gene, coding for the nuclear envelope protein Lamin A/C, and, as an important, more general scope, for studying the complex process governing physiological aging in humans.
|
31794853 |
2020 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential interventional impact of exercise endurance.
|
31668660 |
2020 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Premature cardiac death and aging is the hallmark of Hutchinson-Gilford syndrome (HGPS), a disease caused by defined mutations in the lamin A gene leading to a shortened prelamin A protein known as progerin.
|
31018503 |
2019 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Background Hutchinson-Gilford progeria syndrome (HGPS) is a rare disease caused by pathogenic variants in the LMNA gene, which leads to premature aging.
|
31199775 |
2019 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LMNA have been linked to premature aging disorders, including Hutchinson-Gilford progeria syndrome (HGPS).
|
30900948 |
2019 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The classical mutation in HGPS leads to the production of a toxic truncated version of lamin A, progerin, which retains a farnesyl group.
|
31041622 |
2019 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Aberrant splicing in exon 11 of the LMNA gene causes the premature aging disorder Hutchinson-Gilford Progeria Syndrome.
|
31006814 |
2019 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LMNA mutations lead to degenerative disorders known as laminopathies, including the premature aging disease Hutchinson-Gilford progeria syndrome.
|
31647095 |
2019 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease caused by mutations of the <i>LMNA</i> gene leading to increased production of a partially processed form of the nuclear fibrillar protein lamin A - progerin.
|
31156709 |
2019 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS) is characterized by accelerated senescence due to a de novo mutation in the LMNA gene.
|
31152494 |
2019 |
|
Progeria
|
1.000 |
Biomarker
|
disease |
BEFREE |
We further showed that lamin A/C-HDAC2 interaction is altered in Hutchinson-Gilford Progeria syndrome and other progeroid laminopathies.
|
30766871 |
2019 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS) is the result of a defective form of the lamin A protein called progerin.
|
31128203 |
2019 |
|
Progeria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we show that reduction of lamin A/progerin by a single-dose systemic administration of adeno-associated virus-delivered CRISPR-Cas9 components suppresses HGPS in a mouse model.
|
30778240 |
2019 |
|
Progeria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Lamin A buffers CK2 kinase activity to modulate aging in a progeria mouse model.
|
30906869 |
2019 |
|
Progeria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Immunostaining for Lamin A revealed nuclear dysmorphology in HGPS iPSC-ECs.
|
31411525 |
2019 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford Progeria (HGPS) is an accelerated aging syndrome caused by a mutation in lamin A and one of the best studied laminopathies.
|
31727429 |
2019 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder caused by progerin, a mutant lamin A variant.
|
30862662 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent pooled cohorts of patients with genetic DCM and in particular in those with Lamin A/C (LMNA) mutations have identified patients at increased risk of SCD and allowed the creation of algorithms to prognosticate SCD risk in mutation carriers.
|
31768884 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LMNA<sup>D300N</sup> mutation is associated with DCM in progeroid syndromes.
|
30696354 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
LMNA chromatin immunoprecipitation-sequencing, reduced representative bisulfite sequencing, and RNA-sequencing were performed in 5 control and 5 LMNA-associated DCM hearts.
|
30739589 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
LMNA is one of the most frequently mutated genes and should be included in all target gene assessments of end-stage DCM patients until more data are available.
|
31303467 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Major genomic determinants of dilated cardiomyopathy (DCM) are titin truncating mutations and lamin A/C mutations.
|
30527532 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variations in the lamin gene (<i>LMNA</i>) cause familial dilated cardiomyopathy (DCM).
|
31495264 |
2019 |