|
ZMPSTE24
|
Dermatologic disorders
|
0.100 |
GeneticVariation |
BEFREE |
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
|
24169522 |
2014 |
|
ZMPSTE24
|
Dermatologic disorders
|
0.100 |
GeneticVariation |
BEFREE |
Several progeroid disorders, including Hutchinson-Gilford progeria syndrome (HGPS) and restrictive dermopathy (ZMPSTE24 deficiency), arise when a farnesylated and methylated form of prelamin A accumulates at the nuclear envelope.
|
23686339 |
2013 |
|
ZMPSTE24
|
Dermatologic disorders
|
0.100 |
GeneticVariation |
BEFREE |
In contrast to reported RD patients with LMNA mutations, LMNA p.R435C is not located at the cleavage site necessary for processing of prelamin A by ZMPSTE24 and leads to a distinct phenotype combining clinical features of Restrictive Dermopathy, Mandibuloacral Dysplasia and Hutchinson-Gilford Progeria.
|
23804595 |
2013 |
|
ZMPSTE24
|
Dermatologic disorders
|
0.100 |
GeneticVariation |
BEFREE |
A case of restrictive dermopathy with novel ZMPSTE24 gene mutation.
|
22746836 |
2013 |
|
ZMPSTE24
|
Dermatologic disorders
|
0.100 |
GeneticVariation |
BEFREE |
Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.
|
21108632 |
2012 |
|
ZMPSTE24
|
Dermatologic disorders
|
0.100 |
GeneticVariation |
BEFREE |
Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.
|
20101687 |
2010 |
|
ZMPSTE24
|
Dermatologic disorders
|
0.100 |
GeneticVariation |
BEFREE |
A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.
|
18671782 |
2008 |
|
ZMPSTE24
|
Dermatologic disorders
|
0.100 |
GeneticVariation |
BEFREE |
The secondary laminopathies are due to mutations in ZMPSTE24 gene which encodes for a zinc metalloproteinase involved in processing of prelamin A into mature lamin A and cause mandibuloacral dysplasia and restrictive dermopathy.
|
16364671 |
2006 |
|
ZMPSTE24
|
Dermatologic disorders
|
0.100 |
GeneticVariation |
BEFREE |
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
|
15843403 |
2005 |
|
ZMPSTE24
|
Dermatologic disorders
|
0.100 |
Biomarker |
BEFREE |
This disease was recently reported to be associated with a single heterozygous mutation in ZMPSTE24 and hypothesized to be a digenic disorder (Navarro et al, Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.Hum Mol Genet 13:2493-2503, 2004).
|
16297189 |
2005 |
|
ZMPSTE24
|
Dermatologic disorders
|
0.100 |
Biomarker |
BEFREE |
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
|
15317753 |
2004 |