Book ChapterDOI
Disorders of Keratinization
M. R. Judge,W. H. I. McLean,C. S. Munro +2 more
- pp 1619-1730
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The article was published on 2008-02-04. It has received 194 citations till now.read more
Citations
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Journal ArticleDOI
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
Frances J.D. Smith,Alan D. Irvine,Ana Terron-Kwiatkowski,Aileen Sandilands,Linda E. Campbell,Yiwei Zhao,Haihui Liao,Alan Evans,David Goudie,Sue Lewis-Jones,Gehan Arseculeratne,Colin S. Munro,Ann Sergeant,Grainne M. O'Regan,Sherri J. Bale,John G. Compton,John J. DiGiovanna,John J. DiGiovanna,Richard B. Presland,Philip Fleckman,W.H. Irwin McLean +20 more
TL;DR: It is found that loss or reduction of this major structural protein, filaggrin, leads to varying degrees of impaired keratinization.
Journal ArticleDOI
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Aileen Sandilands,Ana Terron-Kwiatkowski,Peter R. Hull,Grainne M. O'Regan,Timothy H Clayton,Rosemarie Watson,Thomas Carrick,Alan Evans,Haihui Liao,Yiwei Zhao,Linda E. Campbell,Matthias Schmuth,Robert Gruber,Andreas R. Janecke,Peter M. Elias,Maurice A.M. van Steensel,Ivo F Nagtzaam,Michel van Geel,Peter M. Steijlen,Colin S. Munro,Daniel G. Bradley,Colin N. A. Palmer,Frances J.D. Smith,W.H. Irwin McLean,Alan D. Irvine,Alan D. Irvine +25 more
TL;DR: It is shown that the common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases are ancestral variants carried on conserved haplotypes, and a strategy for full sequencing of this large, highly repetitive gene is reported.
Journal ArticleDOI
One remarkable molecule: Filaggrin
Sara J. Brown,W.H. Irwin McLean +1 more
TL;DR: This review aims to highlight the key milestones in filaggrin research over the past 25 years, to discuss the mechanistic, clinical and therapeutic implications and to consider possible future directions for ongoing investigation.
Journal ArticleDOI
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
Masashi Akiyama,Yoriko Sugiyama-Nakagiri,Kaori Sakai,James R. McMillan,Maki Goto,Ken Arita,Yukiko Tsuji-Abe,Nobuko Tabata,Kentaro Matsuoka,Rikako Sasaki,Daisuke Sawamura,Hiroshi Shimizu +11 more
TL;DR: It is concluded that ABCA 12 works as an epidermal keratinocyte lipid transporter and that defective ABCA12 results in a loss of the skin lipid barrier, leading to HI.
Journal ArticleDOI
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
Caroline Lefèvre,Stéphanie Audebert,Florence Jobard,Bakar Bouadjar,Hakima Lakhdar,Omar Boughdene-Stambouli,Claudine Blanchet-Bardon,Roland Heilig,Mario Foglio,Jean Weissenbach,Mark Lathrop,Jean-François Prud'homme,Judith Fischer +12 more
TL;DR: The identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2 are reported, which are localized in the first ATP-binding domain (nucleotide-binding fold), which is highly conserved in all ABC proteins.
References
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Journal ArticleDOI
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
Colin N. A. Palmer,Alan D. Irvine,Ana Terron-Kwiatkowski,Yiwei Zhao,Haihui Liao,Simon P. Lee,David Goudie,Aileen Sandilands,Linda E. Campbell,Frances J.D. Smith,Grainne M. O'Regan,Rosemarie Watson,Jo E Cecil,Sherri J. Bale,John G. Compton,John J. DiGiovanna,John J. DiGiovanna,Philip Fleckman,Sue Lewis-Jones,Gehan Arseculeratne,Ann Sergeant,Colin S. Munro,Brahim El Houate,Ken McElreavey,Liselotte Brydensholt Halkjaer,Hans Bisgaard,Somnath Mukhopadhyay,Somnath Mukhopadhyay,W.H. Irwin McLean +28 more
TL;DR: It is shown that two independent loss-of-function genetic variants (R510X and 2282del4) in the gene encoding filaggrin (FLG) are very strong predisposing factors for atopic dermatitis.
Journal ArticleDOI
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
David P. Kelsell,Dunlop J,Howard P. Stevens,Nicholas Lench,Liang Jn,Gareth Parry,Robert F. Mueller,Irene M. Leigh +7 more
TL;DR: To the authors' knowledge, this is the first nonsyndromic sensorineural autosomal deafness susceptibility gene to be identified, which implicates Cx26 as an important component of the human cochlea.
Journal ArticleDOI
Epidermal lipids, barrier function, and desquamation.
TL;DR: A heterogeneous two-compartment model of the stratum corneum that ascribes a special role for intercellular lipids in the regulation of stratum Corneum barrier function and desquamation is proposed.
Journal ArticleDOI
The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man.
TL;DR: In six patients with acanthosis nigricans variable degrees of glucose intolerance, hyperinsulinemia and marked resistance to exogenous insulin were found, studies of insulin receptors on circulating monocytes suggest that the insulin resistance in these patients was due to a marked decrease in insulin binding to its membrane receptors.
Journal ArticleDOI
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
Godfrina McKoy,Nikos Protonotarios,Andrew H. Crosby,Adalena Tsatsopoulou,Aris Anastasakis,Aman S. Coonar,Mark Norman,C Baboonian,Steve Jeffery,William J. McKenna +9 more
TL;DR: The finding of a deletion in plakoglobin in ARVC suggests that the proteins involved in cell-cell adhesion play an important part in maintaining myocyte integrity, and when junctions are disrupted, cell death, and fibrofatty replacement occur.
Related Papers (5)
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
Frances J.D. Smith,Alan D. Irvine,Ana Terron-Kwiatkowski,Aileen Sandilands,Linda E. Campbell,Yiwei Zhao,Haihui Liao,Alan Evans,David Goudie,Sue Lewis-Jones,Gehan Arseculeratne,Colin S. Munro,Ann Sergeant,Grainne M. O'Regan,Sherri J. Bale,John G. Compton,John J. DiGiovanna,John J. DiGiovanna,Richard B. Presland,Philip Fleckman,W.H. Irwin McLean +20 more