References
- Wang S, Olt S, Schoefmann N, Stuetz A, Winiski A, Wolff-Winiski B, et al. SPINK 5 knockdown in organotypic human skin culture as a model system for Netherton syndrome effect of genetic inhibition of serine proteases kallikrein 5 and kallikrein 7. Exp Dermatol. 2014; 23(7): 524-526.
- Hovnanian A. Netherton syndrome: Skin inflammation and allergy by loss of protease inhibition. Cell Tissue Res. 2013; 351(2): 289-300.
- Roelandt T, Thys B, Heughebaert C, De Vroede A, De Paepe K, Roseeuw D, et al. LEKTI-1 in sickness and in health. Int J Cosmet Sci. 2009; 31(4): 247-254.
- Furio L, de Veer S, Jaillet M, Briot A, Robin A, Deraison C, et al. Transgenic kallikrein 5 mice reproduce major cutaneous and systemic hallmarks of Netherton syndrome. J Exp Med. 2014; 211(3): 499-513.
- Winter RM, Baraitser M., Eds. Netherton – Ichthyosis; brittle hair. Multiple Congenital Anomalies. A Diagnostic Compendium. New York, NY, USA: Springer, 1991: 435.
- Chao SC, Richard G, Lee JY. Netherton syndrome: Report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5. Br J Dermatol. 2005; 152(1): 159-165.
- Meltem Akkurt Z, Tuncel T, Ayhan E, Uçmak D, Uluca Ü, Uçak H, et al. Rapid and easy diagnosis of Netherton syndrome with dermoscopy. J Cutan Med Surg. 2014; 18(4): 280-282.
- http://www.biobase-international.com/product/hgmd(accessed on 18 August 2015).
- Raghunath M, Tontsidou L, Oji V, Aufenvenne K, Schürmeyer-Horst F, Jayakumar A, et al. SPINK5 and Netherton syndrome: Novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J Invest Dermatol. 2004; 123(3): 474-483.
- Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van de Wier G, et al. Clinical expression and new SPINK5 splicing defects in Netherton syndrome: Unmasking a frequent founder synonymous mutation and unconventional intronic mutations. J Invest Dermatol. 2012; 132(3): 575-582.
- Fortugno P, Grosso F, Zambruno G, Pastore S, Faletra F, Castiglia D, et al. A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements. J Hum Genet. 2012; 57(5): 311-315.
- Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, et al. Netherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol. 2002; 118(2): 352-361.
- Komatsu N, Saijoh K, Jayakumar A, Clayman GL, Tohyama M, Suga Y, et al. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients. J Invest Dermatol. 2008; 128(5): 1148-1159.
- Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: Implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol. 2001; 117(2): 179-187.
- Piirila H, Valiaho J, Vihinen M. Immunodeficiency mutation databases (IDbases). Hum Mutat. 2006; 27(12): 1200-1208.