ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.700 GeneticVariation disease BEFREE A novel elastin gene mutation in a Vietnamese patient with cutis laxa. 24758204 2014
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.700 GeneticVariation disease LHGDN ELN mutations may cause severe aortic disease in patients with cutis laxa. 16085695 2006
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.700 GeneticVariation disease BEFREE ELN mutations may cause severe aortic disease in patients with cutis laxa. 16085695 2006
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.700 GeneticVariation disease BEFREE We conclude that elastin mutations can cause CL associated with a severe pulmonary phenotype. 15955094 2005
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
0.700 Biomarker disease GENOMICS_ENGLAND Impaired distal airway development in mice lacking elastin. 10970822 2000
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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
CUI: C0010495
Disease: Cutis Laxa
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