Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

1997 ◽  
Vol 72 (1) ◽  
pp. 94-105 ◽  
Author(s):  
Peter H. Byers ◽  
Madeleine Duvic ◽  
Mary Atkinson ◽  
Meinhard Robinow ◽  
Lynne T. Smith ◽  
...  
Keyword(s):  
Type I Collagen ◽  
Splice Junction ◽  
Type I ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Genomic Deletions ◽  
Danlos Syndrome

Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ?2(I) chain

1991 ◽  
Vol 87 (2) ◽  
pp. 193-198 ◽  
Author(s):  
A. C. Nicholls ◽  
J. Oliver ◽  
D. V. Renouf ◽  
J. McPheat ◽  
A. Palan ◽  
...  
Keyword(s):  
Type I Collagen ◽  
Exon Skipping ◽  
Base Change ◽  
Type I ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Single Base ◽  
Single Base Change ◽  
Danlos Syndrome

scholarly journals The Gene Encoding Collagen α1(V) (COL5A1) Is Linked to Mixed Ehlers-Danlos Syndrome Type I/II

1996 ◽  
Vol 106 (6) ◽  
pp. 1273-1276 ◽  
Author(s):  
Nigel P. Burrows ◽  
Alan C. Nicholls ◽  
John R.W. Yates ◽  
Graham Gatward ◽  
Padmini Sarathachandra ◽  
...  
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Gene Encoding ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Molecular alterations due to Col5a1 Haploinsufficiency in a mouse model of classic Ehlers Danlos syndrome

2021 ◽  
Author(s):  
Keren Machol ◽  
Urszula Polak ◽  
Monika Weisz-Hubshman ◽  
I-Wen Song ◽  
Shan Chen ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Type I Collagen ◽  
Lysyl Oxidase ◽  
Type I ◽  
Ehlers Danlos Syndrome ◽  
Type V Collagen ◽  
Molecular Alterations ◽  
Extracellular Matrix Components ◽  
Type V ◽  
Danlos Syndrome

Abstract Type V collagen is a regulatory fibrillar collagen essential for type I collagen fibril nucleation and organization and its deficiency leads to structurally abnormal extracellular matrix. Haploinsufficiency of the Col5a1 gene encoding α(1) chain of type V collagen is the primary cause of classic Ehlers Danlos Syndrome (EDS). The mechanisms by which this initial insult leads to the spectrum of clinical presentation is not fully understood. Using transcriptome analysis of skin and Achilles tendons from Col5a1 haploinsufficient (Col5a1+/−) mice, we recognized molecular alterations associated with the tissue phenotypes. We identified dysregulation of extracellular matrix components including thrombospondin-1, lysyl oxidase, and lumican in the skin of Col5a1+/− mice when compared to control. We also identified upregulation of Tgf-β in serum and increased expression of pSmad2 in skin from Col5a1+/− mice suggesting Tgf-β dysregulation as a contributor for abnormal wound healing and atrophic scaring seen in classic EDS. Together, these findings support altered matrix to cell signaling as a component of the pathogenesis of the tissue phenotype in classic EDS and point out potential downstream signaling pathways that may be targeted for treatment of the disease.

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