Zobrazeno 1 - 10
of 70
pro vyhledávání: '"Colin S. Munro"'
Autor:
Whi McLean, S Digby, Elizabeth Pohler, F Cunningham, James R. McMillan, Christian Cole, M. Zamiri, Fjd Smith, Aileen Sandilands, Colin S. Munro, Sophia Aristodemou, John A. McGrath
Publikováno v:
The British Journal of Dermatology
Pohler, E, Cunningham, F, Sandilands, A, Cole, C, Digby, S, McMillan, J R, Aristodemou, S, McGrath, J A, Smith, F J D, McLean, W H I, Munro, C S & Zamiri, M 2015, ' Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis ', British Journal of Dermatology, vol. 173, no. 5 . https://doi.org/10.1111/bjd.13895
Pohler, E, Cunningham, F, Sandilands, A, Cole, C, Digby, S, McMillan, J R, Aristodemou, S, McGrath, J A, Smith, F J D, McLean, W H I, Munro, C S & Zamiri, M 2015, ' Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis ', British Journal of Dermatology, vol. 173, no. 5 . https://doi.org/10.1111/bjd.13895
dear editor, Loricrin keratoderma (syn. Camisa syndrome, OMIM 604117) is a rare autosomal dominant genodermatosis characterized by palmoplantar keratoderma and ichthyosis.1, 2 It is caused by mutations in loricrin, a small basic protein synthesized i
Autor:
Nicholoas Craddock, Katherine Gordon-Smith, Susan Burge, Sherine Tavadia, Colin S. Munro, Detelina Grozeva, Elaine K. Green, Lisa Jones
Publikováno v:
The Journal of Dermatology. 40:259-266
Darier disease (DD) is a rare autosomal dominantly inherited skin disorder caused by mutations in ATP2A2, which is expressed in both the skin and the brain and encodes for SERCA2. We have screened the coding regions of ATP2A2 in a total of 95 unrelat
Autor:
Jonathan L. Rees, Anthony P. Monaco, Tom Strachan, Martin D. Smith, Anavaj Sakuntabhai, Raju Kucherlapati, Michael Conlon O'Donovan, G M Lathrop, Sarah Monk, Victor L. Ruiz-Perez, Colin S. Munro, Alain Hovnanian, N. Jacobsen, Michael John Owen, S. Carter, Nicholas John Craddock, Susan Burge
Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0141380781f7d9d2c313bb0f43fc3e7
https://ora.ox.ac.uk/objects/uuid:fec4645d-d617-4f90-8426-a4a463657130
https://ora.ox.ac.uk/objects/uuid:fec4645d-d617-4f90-8426-a4a463657130
Autor:
Aileen Sandilands, Elizabeth Pohler, Fatema Thawer-Esmail, Linda E. Campbell, Akiharu Kubo, Jun Kudoh, Colin S. Munro, Alan D. Irvine, W.H. Irwin McLean, Sara J. Brown, Neil J. Wilson, Christabelle S M Goh, Masayuki Amagai, Takeshi Matsui, Kenichi Miyamoto
Publikováno v:
The Journal of investigative dermatology
To the Editor A key event during epidermal differentiation is the proteolytic breakdown of profilaggrin into “free” filaggrin monomers. A recent study has shown that the skin specific retroviral-like aspartic protease (SASPase) plays a key role i
Autor:
Hiroshi Shimizu, Toshifumi Nomura, Neil J. Wilson, Moez Gribaa, Sébastien Teissier, Alan D. Irvine, Alan Evans, W.H. Irwin McLean, Sara J. Brown, Mohamed Denguezli, Ali Saad, Mohammad Shboul, Ons Mamaï, Christian Cole, Geoffrey J. Barton, M. Zamiri, John A. McGrath, Colin S. Munro, Jennifer Hirst, Patricia J.C. Dopping-Hepenstal, Frances J.D. Smith, Lobna Boussofara, Mitsuhiro Suehiro, Elizabeth Pohler, David Goudie, Benvon Moran, Bruno Reversade, H. M. Horn, Aileen Sandilands, Christabelle S M Goh, Izumi Konohana, Masashi Akiyama
Publikováno v:
Nature genetics
Nature genetics, 44(11), 1272-1276. Nature Publishing Group
Nature genetics, 44(11), 1272-1276. Nature Publishing Group
Palmoplantar keratodermas (PPKs) are a group of disorders that are diagnostically and therapeutically problematic in dermatogenetics(1-3). Punctate PPKs are characterized by circumscribed hyperkeratotic lesions on the palms and soles with considerabl
Autor:
Katherine Gordon-Smith, Sherine Tavadia, Nicholas John Craddock, Susan Burge, Colin S. Munro, Lisa Jones
Publikováno v:
British Journal of Dermatology. 163:515-522
Background Darier disease (DD) is a rare autosomal dominantly inherited skin disorder in which co-occurrence of neuropsychiatric abnormalities has been frequently reported by dermatologists. It is caused by mutations in a single gene, ATP2A2, which i
Autor:
Martin Porter, Peter R. Hull, Frances J.D. Smith, W.H. Irwin McLean, Linda E. Campbell, Ann Sergeant, Colin N. A. Palmer, Colin S. Munro
Publikováno v:
Journal of Investigative Dermatology. 129:1042-1045
Autor:
Mark A. Birch-Machin, S. Darlington, C. E. Belgaid, Andrew G. Messenger, C. Punter, Henning Hamm, Bernhard P. Korge, Colin S. Munro, S. Holmes, Anthea Stephenson, Heiko Traupe, Eugene Healy, Jonathan L. Rees, C. Mauch
Publikováno v:
Experimental Dermatology. 8:295-369
Autor:
Daniel G. Bradley, Peter M. Steijlen, Yiwei Zhao, Peter M. Elias, Peter R. Hull, Alan Evans, Alan D. Irvine, W.H. Irwin McLean, Colin N. A. Palmer, Aileen Sandilands, Linda E. Campbell, Ivo F Nagtzaam, Timothy H Clayton, Matthias Schmuth, Haihui Liao, Frances J.D. Smith, Grainne M. O'Regan, Robert Gruber, Thomas Carrick, Colin S. Munro, Ana Terron-Kwiatkowski, Michel van Geel, Andreas R. Janecke, Maurice A.M. van Steensel, Rosemarie Watson
Publikováno v:
Nature Genetics. 39:650-654
We recently reported two common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases. We show here that these common European mutations are ancestral variants carried on conserved hapl
Autor:
Irene M. Leigh, Bill Bowers, Tom W. Lucke, David P. Kelsell, Elizabeth E. Norgett, Colin S. Munro
Publikováno v:
Journal of Investigative Dermatology. 126:1651-1654