2019
DOI: 10.1016/j.matbio.2018.10.003
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Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring

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Cited by 14 publications
(19 citation statements)
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“…It also translates into a PTC, p.R1226 * . This recurrent mutation has also been previously reported in Dutch population (24) and leads to nonsense mediated mRNA decay, demonstrated by absence of full length collagen XVII (12, 25). Next, we found c.2062C > T, p.R688 * , c.2861delG, p.G954Afs * 112 and 418_419delAG, p.S140 * to represent 4.41% of the mutant alleles in 4.31% of our patients.…”
Section: Resultssupporting
confidence: 74%
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“…It also translates into a PTC, p.R1226 * . This recurrent mutation has also been previously reported in Dutch population (24) and leads to nonsense mediated mRNA decay, demonstrated by absence of full length collagen XVII (12, 25). Next, we found c.2062C > T, p.R688 * , c.2861delG, p.G954Afs * 112 and 418_419delAG, p.S140 * to represent 4.41% of the mutant alleles in 4.31% of our patients.…”
Section: Resultssupporting
confidence: 74%
“…All these null-mutations lead to absence of type XVII collagen and generalized intermediate JEB (previously known as generalized atrophic benign epidermolysis bullosa (GABEB) and later as non-Herlitz JEB). This most severe COL17A1 -associated phenotype was the first to be recognized (12, 17, 22). The main clinical manifestation is represented by mechanically induced skin blistering that starts at birth, is generalized and persists lifelong, without spontaneous improvement.…”
Section: Resultsmentioning
confidence: 97%
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“…They almost certainly prevent formation of functional laminin-332 or may foster formation of granulation tissue and impaired wound healing. 31,32 In mice 33 and potentially in humans, 34 some allelic variants of the collagen XVII ectodomain represent major genetic modifiers of JEB caused by abnormal laminin-332, as they may reduce the strength of dermal-epidermal adhesion in the context of a mutation in laminin-332 genes. Such phenotypic modification was excluded in our patients.…”
Section: Discussionmentioning
confidence: 99%