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Journal Abstract Search

174 related items for PubMed ID: 9402962

  • 1. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.
    Winter H, Rogers MA, Gebhardt M, Wollina U, Boxall L, Chitayat D, Babul-Hirji R, Stevens HP, Zlotogorski A, Schweizer J.
    Hum Genet; 1997 Dec; 101(2):165-9. PubMed ID: 9402962
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  • 2. Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.
    Winter H, Clark RD, Tarras-Wahlberg C, Rogers MA, Schweizer J.
    J Invest Dermatol; 1999 Aug; 113(2):263-6. PubMed ID: 10469314
    [Abstract] [Full Text] [Related]

  • 3. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.
    Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labrèze C, Roul S, Taieb A, Krieg T, Schweizer J.
    Nat Genet; 1997 Aug; 16(4):372-4. PubMed ID: 9241275
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  • 4. Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.
    Korge BP, Hamm H, Jury CS, Traupe H, Irvine AD, Healy E, Birch-MacHin M, Rees JL, Messenger AG, Holmes SC, Parry DA, Munro CS.
    J Invest Dermatol; 1999 Oct; 113(4):607-12. PubMed ID: 10504448
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  • 5. A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients.
    Korge BP, Healy E, Munro CS, Pünter C, Birch-Machin M, Holmes SC, Darlington S, Hamm H, Messenger AG, Rees JL, Traupe H.
    J Invest Dermatol; 1998 Nov; 111(5):896-9. PubMed ID: 9804356
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  • 6. Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix.
    Djabali K, Panteleyev AA, Lalin T, Garzon MC, Longley BJ, Bickers DR, Zlotogorski A, Christiano AM.
    Clin Exp Dermatol; 2003 Mar; 28(2):206-10. PubMed ID: 12653715
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  • 9. Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6.
    Horev L, Glaser B, Metzker A, Ben-Amitai D, Vardy D, Zlotogorski A.
    Hum Hered; 2000 Mar; 50(5):325-30. PubMed ID: 10878479
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  • 11. Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression.
    Zlotogorski A, Horev L, Glaser B.
    Exp Dermatol; 1998 Oct; 7(5):268-72. PubMed ID: 9832314
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  • 12. Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix.
    Muramatsu S, Kimura T, Ueki R, Tsuboi R, Ikeda S, Ogawa H.
    Dermatology; 2003 Oct; 206(4):338-40. PubMed ID: 12771477
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  • 13. Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.
    Shimomura Y, Sakamoto F, Kariya N, Matsunaga K, Ito M.
    J Invest Dermatol; 2006 Jun; 126(6):1281-5. PubMed ID: 16439973
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  • 14. Linkage of monilethrix to the trichocyte and epithelial keratin gene cluster on 12q11-q13.
    Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Dawber RP, Spurr NK, Leigh IM.
    J Invest Dermatol; 1996 Apr; 106(4):795-7. PubMed ID: 8618025
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  • 16. Sequences and differential expression of three novel human type-II hair keratins.
    Rogers MA, Langbein L, Praetzel S, Moll I, Krieg T, Winter H, Schweizer J.
    Differentiation; 1997 Feb; 61(3):187-94. PubMed ID: 9084137
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  • 17. Molecular analysis of an extended Palestinian family from Israel with monilethrix.
    Oetting WS, Fryer JP, Wyman Z, Shtorch A, Cordoba M, Lazarov A, Reish O.
    Genet Med; 1999 Feb; 1(3):109-11. PubMed ID: 11336449
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  • 20. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.
    Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A, Frydman M, Reznik-Wolf H, Vardy DA, Pras E.
    J Invest Dermatol; 2006 Jun; 126(6):1292-6. PubMed ID: 16575393
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