OMIM/256500[Secondary Source ID] - Search Results

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Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity.

Descargues P, Deraison C, Bonnart C, Kreft M, Kishibe M, Ishida-Yamamoto A, Elias P, Barrandon Y, Zambruno G, Sonnenberg A, Hovnanian A. Descargues P, et al. Nat Genet. 2005 Jan;37(1):56-65. doi: 10.1038/ng1493. Epub 2004 Dec 26. Nat Genet. 2005. PMID: 15619623

Netherton syndrome: mutation analysis of two Taiwanese families.

Lin SP, Huang SY, Tu ME, Wu YH, Lin CY, Lin HY, Lee-Chen GJ. Lin SP, et al. Arch Dermatol Res. 2007 Jun;299(3):145-50. doi: 10.1007/s00403-007-0751-z. Epub 2007 Apr 6. Arch Dermatol Res. 2007. PMID: 17415575

Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.

Bitoun E, Chavanas S, Irvine AD, Lonie L, Bodemer C, Paradisi M, Hamel-Teillac D, Ansai S, Mitsuhashi Y, Taïeb A, de Prost Y, Zambruno G, Harper JI, Hovnanian A. Bitoun E, et al. J Invest Dermatol. 2002 Feb;118(2):352-61. doi: 10.1046/j.1523-1747.2002.01603.x. J Invest Dermatol. 2002. PMID: 11841556 Free article.

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