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Items: 1 to 20 of 137

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.
3.

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.

J Invest Dermatol. 2002 Feb;118(2):352-61.

4.

A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.

Di WL, Hennekam RC, Callard RE, Harper JI.

Br J Dermatol. 2009 Aug;161(2):404-12. doi: 10.1111/j.1365-2133.2009.09231.x. Epub 2009 May 12.

PMID:
19438860
5.

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G.

J Invest Dermatol. 2001 Aug;117(2):179-87.

6.
7.

A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.

Chao SC, Tsai YM, Lee JY.

J Formos Med Assoc. 2003 Jun;102(6):418-23.

PMID:
12923596
8.

Gene polymorphism in Netherton and common atopic disease.

Walley AJ, Chavanas S, Moffatt MF, Esnouf RM, Ubhi B, Lawrence R, Wong K, Abecasis GR, Jones EY, Harper JI, Hovnanian A, Cookson WO.

Nat Genet. 2001 Oct;29(2):175-8.

PMID:
11544479
9.

Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.

Geyer AS, Ratajczak P, Pol-Rodriguez M, Millar WS, Garzon M, Richard G.

Dermatology. 2005;210(4):308-14.

PMID:
15942217
10.

Netherton syndrome: mutation analysis of two Taiwanese families.

Lin SP, Huang SY, Tu ME, Wu YH, Lin CY, Lin HY, Lee-Chen GJ.

Arch Dermatol Res. 2007 Jun;299(3):145-50. Epub 2007 Apr 6.

PMID:
17415575
11.

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
12.

Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.

Bitoun E, Bodemer C, Amiel J, de Prost Y, Stoll C, Calvas P, Hovnanian A.

Prenat Diagn. 2002 Feb;22(2):121-6.

PMID:
11857617
13.

LEKTI demonstrable by immunohistochemistry of the skin: a potential diagnostic skin test for Netherton syndrome.

Ong C, O'Toole EA, Ghali L, Malone M, Smith VV, Callard R, Harper JI.

Br J Dermatol. 2004 Dec;151(6):1253-7.

PMID:
15606522
14.

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
15.

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations.

Lacroix M, Lacaze-Buzy L, Furio L, Tron E, Valari M, Van der Wier G, Bodemer C, Bygum A, Bursztejn AC, Gaitanis G, Paradisi M, Stratigos A, Weibel L, Deraison C, Hovnanian A.

J Invest Dermatol. 2012 Mar;132(3 Pt 1):575-82. doi: 10.1038/jid.2011.366. Epub 2011 Nov 17.

16.

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.

Nat Genet. 2005 Jan;37(1):56-65. Epub 2004 Dec 26.

PMID:
15619623
17.

Severe hypernatremic dehydration in an infant with Netherton syndrome.

Stoll C, Alembik Y, Tchomakov D, Messer J, Heid E, Boehm N, Calvas P, Hovnanian A.

Genet Couns. 2001;12(3):237-43.

PMID:
11693786
18.

SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.

Raghunath M, Tontsidou L, Oji V, Aufenvenne K, Schürmeyer-Horst F, Jayakumar A, Ständer H, Smolle J, Clayman GL, Traupe H.

J Invest Dermatol. 2004 Sep;123(3):474-83.

19.

A case of a Japanese neonate with congenital ichthyosiform erythroderma diagnosed as Netherton syndrome.

Mizuno Y, Suga Y, Haruna K, Muramatsu S, Hasegawa T, Kohroh K, Shimizu T, Komatsu N, Ogawa H, Ikeda S.

Clin Exp Dermatol. 2006 Sep;31(5):677-80.

PMID:
16901309
20.

SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing.

Tartaglia-Polcini A, Bonnart C, Micheloni A, Cianfarani F, Andrè A, Zambruno G, Hovnanian A, D'Alessio M.

J Invest Dermatol. 2006 Feb;126(2):315-24.

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