Search Results - "Sergeant, Ann"

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris by McLean, W H Irwin, Smith, Frances J D, Irvine, Alan D, Terron-Kwiatkowski, Ana, Sandilands, Aileen, Campbell, Linda E, Zhao, Yiwei, Liao, Haihui, Evans, Alan T, Goudie, David R, Lewis-Jones, Sue, Arseculeratne, Gehan, Munro, Colin S, Sergeant, Ann, O'Regan, Gráinne, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Presland, Richard B, Fleckman, Philip

“…Ichthyosis vulgaris (OMIM 146700) is the most common inherited disorder of keratinization and one of the most frequent single-gene disorders in humans. The…”
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Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly by Sergeant, Ann, Campbell, Linda E., Hull, Peter R., Porter, Martin, Palmer, Colin N.A., Smith, Frances J.D., McLean, W H Irwin, Munro, Colin S.

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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis by McLean, W H Irwin, Palmer, Colin N A, Irvine, Alan D, Terron-Kwiatkowski, Ana, Zhao, Yiwei, Liao, Haihui, Lee, Simon P, Goudie, David R, Sandilands, Aileen, Campbell, Linda E, Smith, Frances J D, O'Regan, Gráinne M, Watson, Rosemarie M, Cecil, Jo E, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Fleckman, Philip, Lewis-Jones, Sue, Arseculeratne, Gehan, Sergeant, Ann, Munro, Colin S, El Houate, Brahim, McElreavey, Ken, Halkjaer, Liselotte B, Bisgaard, Hans, Mukhopadhyay, Somnath

“…Atopic disease, including atopic dermatitis (eczema), allergy and asthma, has increased in frequency in recent decades and now affects ∼20% of the population…”
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SLURP1 Is a Late Marker of Epidermal Differentiation and Is Absent in Mal de Meleda by Favre, Bertrand, Plantard, Laure, Aeschbach, Lorène, Brakch, Noureddine, Christen-Zaech, Stephanie, de Viragh, Pierre A., Sergeant, Ann, Huber, Marcel, Hohl, Daniel

“…SLURP1 is a secreted member of the LY6/PLAUR protein family. Mutations in the SLURP1 gene are the cause of Mal de Meleda (MDM), a rare autosomal recessive…”
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Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly by Sergeant, Ann, Campbell, Linda E, Hull, Peter R, Porter, Martin, Palmer, Colin N A, Smith, Frances J D, Mclean, W H Irwin, Munro, Colin S

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Ichthyosis: guide to recognition and current treatment options by Sergeant, Ann, Munro, Colin

“…Ichthyoses are a collection of disorders characterised by dry, scaly skin. Here, the authors discuss current treatments for the condition and also look at…”
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Mycobacteria introduced by tattoos by Scott-Lang, Victoria E, Sergeant, Ann, Holme, Alex

“…Skin biopsy confirmed granulomatous inflammation, and Mycobacterium chelonae was grown on culture. Atypical mycobacterial infections affecting the skin are…”
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