|
rs57920071
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
FPLD2 LMNA mutation R482W dysregulates iPSC-derived adipocyte function and lipid metabolism.
|
29108996 |
2018 |
|
rs57920071
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
In contrast, both overexpression of LMNA R482W in primary human preadipocytes and endogenous expression of A-type lamins R482W in FPLD2 patient fibroblasts, reduce A-type lamins-SREBP1 in situ interactions and upregulate a large number of SREBP1 target genes.
|
25524705 |
2015 |
|
rs57920071
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.830 |
GeneticVariation
|
BEFREE |
We propose a model where the FPLD2 lamin A p.R482W mutation elicits, through up-regulation of FXR1P, a remodeling of an adipogenic differentiation program into a myogenic program.
|
24108105 |
2014 |
|
rs57920071
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs57920071
|
|
Familial Partial Lipodystrophy, Type 2
|
T |
0.830 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.
|
23666920 |
2013 |
|
rs57318642
|
|
Progeria
|
T |
0.820 |
CausalMutation
|
CLINVAR |
Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.
|
23497705 |
2013 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA mutation in progeroid syndrome in association with strokes.
|
21791255 |
2012 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.
|
22355414 |
2012 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
|
19933576 |
2010 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
BEFREE |
Homozygous mutation R527C in LMNA yields atypical HGPS, and it suggests an autosomal recessive inheritance in this family.
|
19432833 |
2009 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
BEFREE |
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.
|
18796515 |
2008 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
|
15622532 |
2005 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
|
15060110 |
2004 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
|
15286156 |
2004 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
|
12768443 |
2003 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
|
12714972 |
2003 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA mutations in atypical Werner's syndrome.
|
12927431 |
2003 |
|
rs60310264
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
BEFREE |
Mechanics in human fibroblasts and progeria: Lamin A mutation E145K results in stiffening of nuclei.
|
27677907 |
2017 |
|
rs60310264
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
BEFREE |
Amphibian oocyte nuclei expressing lamin A with the progeria mutation E145K exhibit an increased elastic modulus.
|
21941106 |
2013 |
|
rs60310264
|
|
Progeria
|
A |
0.820 |
CausalMutation
|
CLINVAR |
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
|
12714972 |
2003 |
|
rs60310264
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
|
24503780 |
2014 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Systematic identification of pathological lamin A interactors.
|
24623722 |
2014 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.
|
24375749 |
2014 |