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Journal Abstract Search

177 related items for PubMed ID: 10469314

  • 1. 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]

  • 2. A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.
    Winter H, Labrèze C, Chapalain V, Surlève-Bazeille JE, Mercier M, Rogers MA, Taieb A, Schweizer J.
    J Invest Dermatol; 1998 Jul; 111(1):169-72. PubMed ID: 9665406
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 Oct; 50(5):325-30. PubMed ID: 10878479
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. De novo mutations in monilethrix.
    Horev L, Djabali K, Green J, Sinclair R, Martinez-Mir A, Ingber A, Christiano AM, Zlotogorski A.
    Exp Dermatol; 2003 Dec; 12(6):882-5. PubMed ID: 14714571
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.
    Pearce EG, Smith SK, Lanigan SW, Bowden PE.
    J Invest Dermatol; 1999 Dec; 113(6):1123-7. PubMed ID: 10594761
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 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 Mar; 206(4):338-40. PubMed ID: 12771477
    [Abstract] [Full Text] [Related]

  • 13.
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  • 14. A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix.
    Winter H, Vabres P, Larrègue M, Rogers MA, Schweizer J.
    Hum Hered; 2000 Mar; 50(5):322-4. PubMed ID: 10878478
    [No Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

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  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. Point mutation in the helix termination peptide (HTP) of human type II hair keratin hHb6 causes monilethrix in five families.
    Korge BP, Healy E, Traupe H, Pünter C, Mauch C, Hamm H, Birch-Machin MA, Belgaid CE, Stephenson AM, Holmes SC, Darlington S, Messenger AG, Rees JL, Munro CS.
    Exp Dermatol; 1999 Aug; 8(4):310-2. PubMed ID: 10439241
    [No Abstract] [Full Text] [Related]

  • 19. Structural stability of wild type and mutated alpha-keratin fragments: molecular dynamics and free energy calculations.
    Danciulescu C, Nick B, Wortmann FJ.
    Biomacromolecules; 2004 Aug; 5(6):2165-75. PubMed ID: 15530030
    [Abstract] [Full Text] [Related]

  • 20. 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 Aug; 1(3):109-11. PubMed ID: 11336449
    [Abstract] [Full Text] [Related]

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