Cutis Laxa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Cutis laxa is an uncommon connective tissue disorder affecting the elastin fibers leading to lax and pendulous skin and in generalized form can present with systemic involvement.
|
30745636 |
2020 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Elastolysis and ineffective elastogenesis favor the accumulation of tropoelastin, rather than cross-linked elastin, in atherosclerotic plaques.
|
30214669 |
2018 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
BEFREE |
The results of the present study indicate that PKCε, activated by DCP-LA, increases elastin and fibulin-5/DANCE in the extracellular space of cultured fibroblasts by the mechanism independent of transcriptional and translational modulation or inhibition of elastolysis.
|
29590645 |
2018 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These proteins included several important ECM components, periostin (POSTN), elastin (ELN), and decorin (DCN); genetic mutations in these proteins are associated with different phenotypes of aging, such as cutis laxa and joint and dermal manifestations.
|
30574417 |
2018 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
BEFREE |
The 'Vitamin K deficit and elastolysis theory' posits that elastin degradation causes a rise in the vitamin K deficit and implies that vitamin K supplementation could be preventing elastin degradation.
|
29055397 |
2017 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
BEFREE |
To evaluate the collagen- and elastin-stimulating effects of diluted CaHA in subjects with skin laxity in the neck and décolletage.
|
28095536 |
2017 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel elastin gene mutation in a Vietnamese patient with cutis laxa.
|
24758204 |
2014 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To investigate the pathophysiology underlying a class of elastin gene mutations leading to autosomal dominant cutis laxa, we engineered a cutis laxa mutation (single base deletion) into the human elastin gene contained in a bacterial artificial chromosome.
|
22573328 |
2012 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
BEFREE |
This study investigates the expression profiles of genes responsible for the elastolysis in the dissected human aorta, especially those coding fibulin-1, matrix metalloproteinase-9 (MMP-9), and elastin.
|
21276682 |
2011 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
BEFREE |
To investigate the molecular mechanisms leading to cutis laxa in vivo, we generated transgenic mice by pronuclear injection of minigenes encoding normal human tropoelastin (WT) or tropoelastin with a cutis laxa mutation (CL).
|
20600892 |
2010 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
|
19194475 |
2009 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Diseases linked to the elastin gene arise from loss-of-function mutations leading to protein insufficiency (supravalvular aortic stenosis) or from missense mutations that alter the properties of the elastin protein (dominant cutis laxa).
|
17626896 |
2007 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
ELN mutations may cause severe aortic disease in patients with cutis laxa.
|
16085695 |
2006 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
ELN mutations may cause severe aortic disease in patients with cutis laxa.
|
16085695 |
2006 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude that elastin mutations can cause CL associated with a severe pulmonary phenotype.
|
15955094 |
2005 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Only 3 mutations in the elastin gene have been described as the genetic cause of the autosomal dominant form of cutis laxa.
|
15381555 |
2004 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
BEFREE |
Cutis laxa comprises a group of uncommon disorders of elastin fibers first described by Graf in the early 19th century.
|
14721770 |
2004 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
This article is the fourth report of autosomal dominant cutis laxa to appear in the literature in which a mutation in the elastin gene has been correlated with the disease.
|
15381555 |
2004 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The results demonstrate that a heterozygous mutation in fibulin-5 can cause cutis laxa and also suggest that fibulin-5 and elastin gene mutations are not the exclusive cause of the disease.
|
12618961 |
2003 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
CTD_human |
Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.
|
12189163 |
2002 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
BEFREE |
The abnormal synthetic repertoire of these morphologically abnormal smooth muscle cells in early vascular lesions included elastin, among other matrix elements, and matrix metalloproteinase 9, a known mediator of elastolysis.
|
11139471 |
2001 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Impaired distal airway development in mice lacking elastin.
|
10970822 |
2000 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
BEFREE |
In Northern blot analysis of cultured dermal fibroblasts, elastin mRNA levels were reduced, suggesting a decrease in elastin production at the lesions of loose skin.
|
11146354 |
2000 |
Cutis Laxa
|
0.700 |
Biomarker
|
disease |
BEFREE |
These two dominant-acting, apparently de novo mutations in the elastin gene appear to be responsible for qualitative and quantitative defects in elastin, resulting in the cutis laxa phenotype.
|
9873040 |
1999 |
Cutis Laxa
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have now identified an elastin mutation in a patient with a completely different phenotype, the rare autosomal dominant condition cutis laxa.
|
9580666 |
1998 |