High-resolution melting analysis to screen the ST18 gene functional risk variant for pemphigus vulgaris: The occasion to open a debate on its usefulness in clinical setting

Bystryn, 2005, Pemphigus, Lancet, 366, 61, 10.1016/S0140-6736(05)66829-8 Chernyavsky, 2007, Differential coupling of M1 muscarinic and alpha7 nicotinic receptors to inhibition of pemphigus acantholysis, J. Biol. Chem., 283, 3401, 10.1074/jbc.M704956200 De Paolis, 2018, A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH), Clin. Chim. Acta, 482, 8, 10.1016/j.cca.2018.03.024 Er, 2012, High-resolution melting: applications in genetic disorders, Clin. Chim. Acta, 414, 197, 10.1016/j.cca.2012.09.012 Grando, 2006, Cholinergic control of epidermal cohesion, Exp. Dermatol., 15, 265, 10.1111/j.0906-6705.2006.00410.x Grando, 2009, Apoptolysis: a novel mechanism of skin blistering in pemphigus vulgaris linking the apoptotic pathways to basal cell shrinkage and suprabasal acantholysis, Exp. Dermatol., 18, 764, 10.1111/j.1600-0625.2009.00934.x Kasperkiewicz, 2017, Pemphigus, Nat. Rev. Dis. Primers, 11, 17026, 10.1038/nrdp.2017.26 Minucci, 2017, High resolution melting analysis is very useful to identify BRCA1 c.4964_4982del19 (rs80359876) founder Calabrian pathogenic variant on peripheral blood and buccal swab DNA, Mol. Diagn. Ther., 21, 217, 10.1007/s40291-017-0262-3 Minucci, 2017, Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: a new approach to assess quantitative status of BRCA1 gene in a reference laboratory, Clin. Chim. Acta, 470, 83, 10.1016/j.cca.2017.04.026 Montgomery, 2010, High-resolution DNA melting analysis in clinical research and diagnostics, Expert. Rev. Mol. Diagn., 10, 219, 10.1586/erm.09.84 Ruocco, 2013, Pemphigus: etiology, pathogenesis, and inducing or triggering factors: facts and controversies, Clin. Dermatol., 31, 374, 10.1016/j.clindermatol.2013.01.004 Sarig, 2012, Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris, J. Invest. Dermatol., 132, 1798, 10.1038/jid.2012.46 Sinha, 2011, The genetics of pemphigus, Dermatol. Clin., 29, 381, 10.1016/j.det.2011.03.020 Słomka, 2017, High Resolution Melting (HRM) for high-throughput genotyping-limitations and caveats in practical case studies, Int. J. Mol. Sci., 3, 11 Stanley, 2006, Pemphigus, bullous impetigo, and the staphylococcal scalded-skin syndrome, N. Engl. J. Med., 355, 1800, 10.1056/NEJMra061111 Tron, 2005, Genetic factors in pemphigus, J. Autoimmun., 24, 319, 10.1016/j.jaut.2005.03.006 Vodo, 2016, Identification of a functional risk variant for pemphigus vulgaris in the ST18 gene, PLoS Genet., 12, 10.1371/journal.pgen.1006008