Search Results - "McLean, Irwin W.H."

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    Atopic Dermatitis and Disease Severity Are the Main Risk Factors for Food Sensitization in Exclusively Breastfed Infants by Flohr, Carsten, Perkin, Michael, Logan, Kirsty, Marrs, Tom, Radulovic, Suzana, Campbell, Linda E., MacCallum, Stephanie F., Irwin McLean, W.H., Lack, Gideon

    Published in Journal of investigative dermatology (01-02-2014)
    “…Filaggrin (FLG) loss-of-function skin barrier gene mutations are associated with atopic dermatitis (AD) and transepidermal water loss (TEWL). We investigated…”
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    Journal Article
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    Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita by Leachman, Sancy A, Hickerson, Robyn P, Hull, Peter R, Smith, Frances J.D, Milstone, Leonard M, Lane, E. Birgitte, Bale, Sherri J, Roop, Dennis R, McLean, W.H. Irwin, Kaspar, Roger L

    Published in Journal of dermatological science (01-09-2008)
    “…Summary The field of science and medicine has experienced a flood of data and technology associated with the human genome project. Over 10,000 human diseases…”
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    Journal Article
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    Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient by BERNASSOLA, FRANCESCA, FEDERICI, MASSIMO, CORAZZARI, MARCO, TERRINONI, ALESSANDRO, HRIBAL, MARTA L., DE LAURENZI, VINCENZO, RANALLI, MARCO, MASSA, ORNELLA, SESTI, GIORGIO, MCLEAN, W.H. IRWIN, CITRO, GENNARO, BARBETTI, FABRIZIO, MELINO, GERRY

    Published in The FASEB journal (01-09-2002)
    “…ABSTRACT Transglutaminase 2 (TGase 2) is a Ca+2‐ dependent enzyme that catalyzes both intracellular and extracellular cross‐linking reactions by transamidation…”
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    Journal Article
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    A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita by Liao, Haihui, Sayers, Jane M, Wilson, Neil J, Irvine, Alan D, Mellerio, Jemima E, Baselga, Eulalia, Bayliss, Susan J, Uliana, Vera, Fimiani, Michele, Lane, E. Birgitte, McLean, W.H. Irwin, Leachman, Sancy A, Smith, Frances J.D

    Published in Journal of dermatological science (01-12-2007)
    “…Summary Background Pachyonychia congenita (PC) is a rare autosomal dominant keratin disorder, subdivided into two major variants, PC-1 and PC-2. Predominant…”
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    Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts by Ohguchi, Yuka, Nomura, Toshifumi, Suzuki, Shotaro, Takeda, Masae, Miyauchi, Toshinari, Mizuno, Osamu, Shinkuma, Satoru, Fujita, Yasuyuki, Nemoto, Osamu, Ono, Kota, McLean, W.H. Irwin, Shimizu, Hiroshi

    Published in Journal of investigative dermatology (01-04-2018)
    “…Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive skin disorder with a high, unmet medical need that is caused by mutations in SERPINB7…”
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    Journal Article
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    Filaggrin in atopic dermatitis by O'Regan, Grainne M., MB, Sandilands, Aileen, PhD, McLean, W.H. Irwin, PhD, DSc, Irvine, Alan D., MD, FRCPI

    Published in Journal of allergy and clinical immunology (01-10-2008)
    “…The recent identification of loss-of-function mutations in the structural protein filaggrin as a widely replicated major risk factor for eczema sheds new light…”
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    Journal Article
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