These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

304 related articles for article (PubMed ID: 19438860)

  • 1. 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]  

  • 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. 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]  

  • 4. 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. PubMed ID: 17415575
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.
    Fortugno P; Grosso F; Zambruno G; Pastore S; Faletra F; Castiglia D
    J Hum Genet; 2012 May; 57(5):311-5. PubMed ID: 22377713
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 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. 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]  

  • 9. 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]  

  • 10. Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in
    Moltrasio C; Romagnuolo M; Riva D; Colavito D; Ferrucci SM; Marzano AV; Tadini G; Brena M
    Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239440
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome.
    Fong K; Akdeniz S; Isi H; Taskesen M; McGrath JA; Lai-Cheong JE
    Clin Exp Dermatol; 2011 Jun; 36(4):412-5. PubMed ID: 21564178
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 10835624
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Serine protease inhibitor lymphoepithelial Kazal type-related inhibitor tends to be decreased in atopic dermatitis.
    Roedl D; Traidl-Hoffmann C; Ring J; Behrendt H; Braun-Falco M
    J Eur Acad Dermatol Venereol; 2009 Nov; 23(11):1263-6. PubMed ID: 19522716
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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. PubMed ID: 15619623
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 22089833
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Upregulation of interleukin-33 in the epidermis of two Japanese patients with Netherton syndrome.
    Konishi T; Tsuda T; Sakaguchi Y; Imai Y; Ito T; Hirota S; Yamanishi K
    J Dermatol; 2014 Mar; 41(3):258-61. PubMed ID: 24506793
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Establishment of a mouse model of Netherton syndrome based on CRISPR/Cas9 technology.
    Guo JZ; Su J; Dai H; Wang XY; Wu WB; Chen T; Zhang J; Wang WH
    Eur J Dermatol; 2022 Jul; 32(4):459-463. PubMed ID: 36301754
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.