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Items: 15

1.

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.

Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, Bonafé JL, Wilkinson J, Taïeb A, Barrandon Y, Harper JI, de Prost Y, Hovnanian A.

Nat Genet. 2000 Jun;25(2):141-2.

PMID:
10835624
2.

Genetic analysis of a severe case of Netherton syndrome and application for prenatal testing.

Müller FB, Hausser I, Berg D, Casper C, Maiwald R, Jung A, Jung H, Korge BP.

Br J Dermatol. 2002 Mar;146(3):495-9. Review.

PMID:
11952552
3.

Biochemical features, molecular biology and clinical relevance of the human 15-domain serine proteinase inhibitor LEKTI.

Walden M, Kreutzmann P, Drögemüller K, John H, Forssmann WG, Hans-Jürgen M.

Biol Chem. 2002 Jul-Aug;383(7-8):1139-41. Review.

PMID:
12437098
4.

LEKTI: a multidomain serine proteinase inhibitor with pathophysiological relevance.

Mägert HJ, Kreutzmann P, Ständker L, Walden M, Drögemüller K, Forssmann WG.

Int J Biochem Cell Biol. 2002 Jun;34(6):573-6. Review.

PMID:
11943586
5.

A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene.

Mizuno Y, Suga Y, Muramatsu S, Hasegawa T, Shimizu T, Ogawa H.

Br J Dermatol. 2005 Sep;153(3):661-3. Review.

PMID:
16120162
6.

The 15-domain serine proteinase inhibitor LEKTI: biochemical properties, genomic organization, and pathophysiological role.

Mägert HJ, Kreutzmann P, Drögemüller K, Ständker L, Adermann K, Walden M, John H, Korting HC, Forssmann WG.

Eur J Med Res. 2002 Feb 21;7(2):49-56. Review.

PMID:
11891144
7.

SPINK5: both rare and common skin disease.

Norgett EE, Kelsell DP.

Trends Mol Med. 2002 Jan;8(1):7. Review. No abstract available.

PMID:
11796258
8.

Netherton syndrome: skin inflammation and allergy by loss of protease inhibition.

Hovnanian A.

Cell Tissue Res. 2013 Feb;351(2):289-300. doi: 10.1007/s00441-013-1558-1. Epub 2013 Jan 24. Review.

PMID:
23344365
9.

LEKTI-1 in sickness and in health.

Roelandt T, Thys B, Heughebaert C, De Vroede A, De Paepe K, Roseeuw D, Rombaut B, Hachem JP.

Int J Cosmet Sci. 2009 Aug;31(4):247-54. doi: 10.1111/j.1468-2494.2009.00516.x. Epub 2009 May 13. Review.

10.

Case reports of oculofaciocardiodental syndrome with unusual dental findings.

Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek AM.

Am J Med Genet A. 2005 Jul 30;136(3):275-7. Review. Erratum in: Am J Med Genet A. 2005 Nov 15;139(1):54.

PMID:
15957158
11.

Netherton syndrome and its multifaceted defective protein LEKTI.

D'Alessio M, Fortugno P, Zambruno G, Hovnanian A.

G Ital Dermatol Venereol. 2013 Feb;148(1):37-51. Review.

PMID:
23407075
12.

Netherton Syndrome: A Genotype-Phenotype Review.

Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, Zafiriou E, Patsatsi A, Stamatis C, Gidarokosta P, Sotiriadis D, Sarafidou T, Mamuris Z.

Mol Diagn Ther. 2017 Apr;21(2):137-152. doi: 10.1007/s40291-016-0243-y. Review.

PMID:
27905021
13.

Netherton syndrome: defective kallikrein inhibition in the skin leads to skin inflammation and allergy.

Furio L, Hovnanian A.

Biol Chem. 2014 Sep;395(9):945-58. doi: 10.1515/hsz-2014-0137. Review.

PMID:
25153381
14.

Mechanistic insight from murine models of Netherton syndrome.

Keuylian Z, Hovnanian A.

Biol Chem. 2016 Dec 1;397(12):1223-1228. doi: 10.1515/hsz-2016-0203. Review.

PMID:
27710911
15.

Inherited disorders of accelerated desquamation.

Elias PM, Williams ML, Crumrine D, Schmuth M.

Curr Probl Dermatol. 2010;39:89-97. doi: 10.1159/000321085. Epub 2010 Sep 14. Review. No abstract available.

PMID:
20838038

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