The 120-kDa soluble ectodomain of type XVII collagen is recognized by autoantibodies in patients with pemphigoid and linear IgA dermatosis

2000 ◽  
Vol 143 (1) ◽  
pp. 104-111 ◽  
Author(s):  
J.Y. Roh ◽  
C. Yee ◽  
Z. Lazarova ◽  
R.P. Hall ◽  
K.B. Yancey
Keyword(s):  
Linear Iga Dermatosis ◽  
Xvii Collagen

scholarly journals Personalized Development of Antisense Oligonucleotides for Exon Skipping Restores Type XVII Collagen Expression in Junctional Epidermolysis Bullosa

2021 ◽  
Vol 22 (7) ◽  
pp. 3326
Author(s):  
Michael Ablinger ◽  
Thomas Lettner ◽  
Nicole Friedl ◽  
Hannah Potocki ◽  
Theresa Palmetzhofer ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Antisense Oligonucleotides ◽  
Exon Skipping ◽  
Junctional Epidermolysis Bullosa ◽  
Reading Frame ◽  
Collagen Expression ◽  
Promising Tool ◽  
Mucous Membranes ◽  
Personalized Approach ◽  
Xvii Collagen

Intermediate junctional epidermolysis bullosa caused by mutations in the COL17A1 gene is characterized by the frequent development of blisters and erosions on the skin and mucous membranes. The rarity of the disease and the heterogeneity of the underlying mutations renders therapy developments challenging. However, the high number of short in-frame exons facilitates the use of antisense oligonucleotides (AON) to restore collagen 17 (C17) expression by inducing exon skipping. In a personalized approach, we designed and tested three AONs in combination with a cationic liposomal carrier for their ability to induce skipping of COL17A1 exon 7 in 2D culture and in 3D skin equivalents. We show that AON-induced exon skipping excludes the targeted exon from pre-mRNA processing, which restores the reading frame, leading to the expression of a slightly truncated protein. Furthermore, the expression and correct deposition of C17 at the dermal–epidermal junction indicates its functionality. Thus, we assume AON-mediated exon skipping to be a promising tool for the treatment of junctional epidermolysis bullosa, particularly applicable in a personalized manner for rare genotypes.

Linear IgA dermatosis with severe arthralgia

1989 ◽  
Vol 121 (4) ◽  
pp. 541-542 ◽  
Author(s):  
R.E.A. Williams
Keyword(s):  
Linear Iga Dermatosis

scholarly journals Pregnant women have increased incidence of IgE autoantibodies reactive with the skin and placental antigen BP180 (type XVII collagen)

2010 ◽  
Vol 85 (2) ◽  
pp. 198-204 ◽  
Author(s):  
Megan H. Noe ◽  
Kelly A.N. Messingham ◽  
Debra S. Brandt ◽  
Janet I. Andrews ◽  
Janet A. Fairley
Keyword(s):  
Pregnant Women ◽  
Xvii Collagen

DI-058 Experience in paediatric use of dapsone for the treatment of linear IGA dermatosis

2014 ◽  
Vol 21 (Suppl 1) ◽  
pp. A93.2-A94 ◽  
Author(s):  
E Márquez ◽  
D Guerra Estévez ◽  
MV López López ◽  
JJ Ramos Báez ◽  
B Marmesat Rodas
Keyword(s):  
Linear Iga Dermatosis
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