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   SPINK5base
   Variation registry for  Netherton syndrome


SPINK5base mutation publications

[2010] [2009] [2008] [2007] [2006] [2005] [2004] [2002] [2001] [2000] [ ]

Search PubMed latest citations for SPINK5 mutations

    2010

  • A new SPINK5 donor splice site mutation in siblings with Netherton syndrome.
    Tüysüz B, Ojalvo D, Mat C, Zambruno G, Covaciu C, Castiglia D, D'Alessio M
    Acta Derm Venereol 2010(1): 95-6 [PubMed abstract].

    2009

  • Comèl-Netherton syndrome defined as primary immunodeficiency.
    Renner ED, Hartl D, Rylaarsdam S, Young ML, Monaco-Shawver L, Kleiner G, Markert ML, Stiehm ER, Belohradsky BH, Upton MP, Torgerson TR, Orange JS, Ochs HD
    J Allergy Clin Immunol 2009(3): 536-43 [PubMed abstract].

    2008

  • 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(5): 1148-59 [PubMed abstract].

    2007

  • 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(5): 564-7 [PubMed abstract].

  • 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(3): 145-50 [PubMed abstract].

    2006

  • 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(5): 677-80 [PubMed abstract].

  • Netherton syndrome: report of identical twins presenting with severe atopic dermatitis.
    Kilic G, Guler N, Ones U, Tamay Z, Guzel P
    Eur J Pediatr 2006(9): 594-7 [PubMed abstract].

    2005

  • 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(1): 159-65 [PubMed abstract].

  • 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(3): 661-3 [PubMed abstract].

  • 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(5): 1026-30 [PubMed abstract].

    2004

  • Deleterious mutations in SPINK5 in a patient with congenital ichthyosiform erythroderma: molecular testing as a helpful diagnostic tool for Netherton syndrome.
    Sprecher E, Tesfaye-Kedjela A, Ratajczak P, Bergman R, Richard G
    Clin Exp Dermatol 2004(5): 513-7 [PubMed abstract].

  • 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(3): 474-83 [PubMed abstract].

    2002

  • 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(3): 495-9 [PubMed abstract].

  • 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(2): 352-61 [PubMed abstract].

  • 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(3): 436-43 [PubMed abstract].

    2001

  • 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(2): 179-87 [PubMed abstract].

    2000

  • 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(2): 141-2 [PubMed abstract].

  • An infant with Netherton syndrome and persistent pulmonary hypertension requiring extracorporeal membrane oxygenation.
    Macknet CA, Morkos A, Job L, Garberoglio MC, Clark RD, Macknet KD, Peverini RL
    Pediatr Dermatol (3): 368-72 [PubMed abstract].