|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with some mutations in the lamin A/C (LMNA) gene are characterized by the presence of dilated cardiomyopathy (DCM), conduction abnormalities, ventricular tachyarrhythmias (VT), and sudden cardiac death (SCD).
|
31847799 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genes associated predominantly with arrhythmic DCM included LMNA and SCN5A, as well as the more recently-reported DCM disease genes, RBM20, FLNC, and TTN.
|
30482687 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Desmosomal and LMNA gene variants identify the subset of DCM patients who are at greatest risk for SCD and life-threatening ventricular arrhythmias, regardless of the left ventricular ejection fraction.
|
31514951 |
2019 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Taken together, our findings suggest that the activation of the PDGF pathway contributes to the pathogenesis of LMNA-related DCM and point to PDGF receptor-β (PDGFRB) as a potential therapeutic target.
|
31316208 |
2019 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Currently, 90% of the patients are said to have de novo point mutations in the LMNA gene that substitute cytosine with thymine and have been found in individuals with HGPS.
|
28660486 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous work has shown that treatment of HGPS cells with the mTOR inhibitor rapamycin or with the rapamycin analog everolimus corrects several of the phenotypes seen at the cellular level-at least in part by increasing autophagy and reducing the amount of progerin, the toxic form of lamin A that is overproduced in HGPS patients.
|
29581305 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HGPS is one of several progeroid syndromes caused by mutations in the LMNA gene encoding the nuclear structural proteins lamins A and C. In classic HGPS the mutation G608G leads to the formation of a toxic lamin A protein called progerin.
|
29907918 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HGPS is caused by a point mutation in lamin A (LMNA) gene, resulting in the production of a truncated protein product-progerin.
|
29476423 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most cases of HGPS have been linked to the extensive use of a cryptic splice donor site located in the LMNA gene due to a de novo mutation, generating a truncated and toxic protein known as progerin.
|
30037605 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cellular senescence is a hallmark of normal aging and aging-related syndromes, including the premature aging disorder Hutchinson-Gilford Progeria Syndrome (HGPS), a rare genetic disorder caused by a single mutation in the LMNA gene that results in the constitutive expression of a truncated splicing mutant of lamin A known as progerin.
|
29429991 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The premature aging disease Hutchinson-Gilford syndrome (HGPS) is also caused by defined mutations in the LMNA gene resulting in activation of a cryptic splice donor site leading to a defective truncated prelamin A protein called progerin.
|
29702688 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS), caused by a recurrent de novo synonymous LMNA mutation resulting in aberrant splicing and generation of a mutant product called progerin, is a prototypical example of such disorders.
|
30450527 |
2018 |
|
Progeria
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings establish Smurf2 as an essential regulator of lamin A and progerin and lay a foundation for evaluating the efficiency of progerin clearance by Smurf2 in HGPS, and targeting of the Smurf2-lamin A axis in age-related diseases such as cancer.
|
29405587 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss of LAP2α and nucleoplasmic lamins in wild-type cells increases cell proliferation, but in cells expressing progerin (a mutant lamin A that causes Hutchinson-Gilford progeria syndrome), low LAP2α levels result in proliferation defects.
|
29361532 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with the heterozygous LMNA p.T10I mutation have distinct clinical features and significantly worse metabolic complications compared with other patients with APS as well as patients with Hutchinson-Gilford progeria syndrome.
|
29267953 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we analyzed the mandibular molars of a tissue-specific mouse model that overexpresses the most common HGPS mutation (LMNA, c.1824C > T, p.G608G) in odontoblasts.
|
30337599 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BackgroundHutchinson-Gilford progeria syndrome (HGPS) is an ultra-rare, fatal, segmental premature aging syndrome caused by the aberrant lamin A protein, progerin.
|
29342131 |
2018 |
|
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease caused by a truncated lamin A protein (progerin) that drives cellular and organismal decline.
|
29466729 |
2018 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
Characterised by progressive conduction system disease, arrhythmia and systolic impairment, lamin A/C heart disease is more malignant than other common DCMs due to high event rates even when the left ventricular impairment is mild.
|
29175975 |
2018 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have previously described 19 pedigrees with apparent lamin (<i>LMNA</i>)-related dilated cardiomyopathy (DCM) manifesting in affected family members across multiple generations.
|
30012837 |
2018 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We explored the prevalence, cardiac penetrance, and expressivity of LMNA mutations among familial DCM in Norway.
|
29095976 |
2018 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using targeted resequencing, we discovered a novel truncating LMNA mutation associated with CCD and DCM in this family characterized by gender differences in clinical severity in LMNA carriers.
|
29628476 |
2018 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TTN truncating variants were the major cause of sporadic DCM (21.4% of sporadic cases) as with Caucasians, whereas LMNA variants, which include a novel recurrent LMNA E115M variant, were the most frequent in familial DCM (24.0% of familial cases) unlike Caucasians.
|
29386531 |
2018 |
|
Cardiomyopathy, Familial Idiopathic
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LMNA gene are a common cause (6-8%) of dilated cardiomyopathy (DCM) leading to heart failure, a growing health care problem worldwide.
|
29702688 |
2018 |
|
Progeria
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |