Novel loss-of-function variants in filaggrin exon 3 in patients with severe atopic dermatitis-Reference-Cited by-同舟云学术

Novel loss-of-function variants in filaggrin exon 3 in patients with severe atopic dermatitis

Published:2024-09-06 Issue:8 Volume:316 Page:
ISSN:1432-069X
Container-title:Archives of Dermatological Research
language:en
Short-container-title:Arch Dermatol Res

Author:

Bellinato Francesco,Gisondi Paolo,Medori Maria Chiara,Maltese Paolo,Cristofoli Francesca,Mareso Chiara,Macchia Alessandro,Bertelli Matteo,Girolomoni Giampiero

Funder

European Union - Next Generation EU - NRRP M6C2 - Investment 2.1 Enhancement and strengthening of biomedical research in the NHS"

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00403-024-03273-w.pdf

Reference5 articles.

1. Smith FJ, Irvine AD, Terron-Kwiatkowski A et al (2006) Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 38:337–342

2. Brown SJ, Kroboth K, Sandilands A et al (2012) Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol 132:98–104

3. Mareso C, Albion E, Cozza W, Tanzi B, Cecchin S, Gisondi P et al (2023) Optimization of long-range PCR protocol to prepare filaggrin exon 3 libraries for PacBio long-read sequencing. Mol Biol Rep 50(4):3119–3127

4. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP et al (2006) Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 38(4):441–446

5. van den Oord RA, Sheikh A (2009) Filaggrin gene defects and risk of developing allergic sensitisation and allergic disorders: systematic review and meta-analysis. BMJ 339:b2433