261 related articles for article (PubMed ID: 17989726)
1. Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.
Komatsu N; Saijoh K; Jayakumar A; Clayman GL; Tohyama M; Suga Y; Mizuno Y; Tsukamoto K; Taniuchi K; Takehara K; Diamandis EP
J Invest Dermatol; 2008 May; 128(5):1148-59. PubMed ID: 17989726
[TBL] [Abstract][Full Text] [Related]
2. Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.
Shimomura Y; Sato N; Kariya N; Takatsuka S; Ito M
Br J Dermatol; 2005 Nov; 153(5):1026-30. PubMed ID: 16225619
[TBL] [Abstract][Full Text] [Related]
3. Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5.
Chao SC; Richard G; Lee JY
Br J Dermatol; 2005 Jan; 152(1):159-65. PubMed ID: 15656819
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19438860
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 15304086
[TBL] [Abstract][Full Text] [Related]
6. SPINK5 gene mutation and decreased LEKTI activity in three Chinese patients with Netherton's syndrome.
Zhao Y; Ma ZH; Yang Y; Yang SX; Wu LS; Ding BL; Lin ZM; Wang AP; Bu DF; Tu P
Clin Exp Dermatol; 2007 Sep; 32(5):564-7. PubMed ID: 17608759
[TBL] [Abstract][Full Text] [Related]
7. SPINK5 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.
Wang S; Olt S; Schoefmann N; Stuetz A; Winiski A; Wolff-Winiski B
Exp Dermatol; 2014 Jul; 23(7):524-6. PubMed ID: 24848304
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 15606522
[TBL] [Abstract][Full Text] [Related]
9. rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients.
Roedl D; Oji V; Buters JT; Behrendt H; Braun-Falco M
J Dermatol Sci; 2011 Mar; 61(3):194-8. PubMed ID: 21251800
[TBL] [Abstract][Full Text] [Related]
10. Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
Hannula-Jouppi K; Laasanen SL; Ilander M; Furio L; Tuomiranta M; Marttila R; Jeskanen L; Häyry V; Kanerva M; Kivirikko S; Tuomi ML; Heikkilä H; Mustjoki S; Hovnanian A; Ranki A
JAMA Dermatol; 2016 Apr; 152(4):435-42. PubMed ID: 26865388
[TBL] [Abstract][Full Text] [Related]
11. Elevated stratum corneum hydrolytic activity in Netherton syndrome suggests an inhibitory regulation of desquamation by SPINK5-derived peptides.
Komatsu N; Takata M; Otsuki N; Ohka R; Amano O; Takehara K; Saijoh K
J Invest Dermatol; 2002 Mar; 118(3):436-43. PubMed ID: 11874482
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 11841556
[TBL] [Abstract][Full Text] [Related]
13. The 420K LEKTI variant alters LEKTI proteolytic activation and results in protease deregulation: implications for atopic dermatitis.
Fortugno P; Furio L; Teson M; Berretti M; El Hachem M; Zambruno G; Hovnanian A; D'Alessio M
Hum Mol Genet; 2012 Oct; 21(19):4187-200. PubMed ID: 22730493
[TBL] [Abstract][Full Text] [Related]
14. Identification of lympho-epithelial Kazal-type inhibitor 2 in human skin as a kallikrein-related peptidase 5-specific protease inhibitor.
Meyer-Hoffert U; Wu Z; Schröder JM
PLoS One; 2009; 4(2):e4372. PubMed ID: 19190773
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 11511292
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 16374478
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 19467033
[TBL] [Abstract][Full Text] [Related]
18. Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome.
Hachem JP; Wagberg F; Schmuth M; Crumrine D; Lissens W; Jayakumar A; Houben E; Mauro TM; Leonardsson G; Brattsand M; Egelrud T; Roseeuw D; Clayman GL; Feingold KR; Williams ML; Elias PM
J Invest Dermatol; 2006 Jul; 126(7):1609-21. PubMed ID: 16601670
[TBL] [Abstract][Full Text] [Related]
19. Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis.
Fortugno P; Bresciani A; Paolini C; Pazzagli C; El Hachem M; D'Alessio M; Zambruno G
J Invest Dermatol; 2011 Nov; 131(11):2223-32. PubMed ID: 21697885
[TBL] [Abstract][Full Text] [Related]
20. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome.
Bitoun E; Micheloni A; Lamant L; Bonnart C; Tartaglia-Polcini A; Cobbold C; Al Saati T; Mariotti F; Mazereeuw-Hautier J; Boralevi F; Hohl D; Harper J; Bodemer C; D'Alessio M; Hovnanian A
Hum Mol Genet; 2003 Oct; 12(19):2417-30. PubMed ID: 12915442
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]