Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

Autor: Hane Lee, Declan P. Lunny, Ildikó Szeverényi, Sigurd Broesby-Olsen, Mariella D'Alessandro, Anne-Marie Gerdes, Gabriella Pichert, Barry Merriman, Brian O'Connor, Jean Friedel, Stephanie E. Coats, Lesley Christie, Bruno Reversade, Sean Whittaker, David Goudie, E. Birgitte Lane, Chandra S. Verma, Nigel Burrows, Malcolm A. Ferguson-Smith, Ian Hayes, Stuart Avery, Arlene Stewart, Stanley F. Nelson

Publikováno v: Nature genetics, 43(4), 365-U121. Nature Publishing Group
Goudie, D R, D'Alessandro, M, Merriman, B, Lee, H, Szeverényi, I, Avery, S, O'Connor, B D, Nelson, S F, Coats, S E, Stewart, A, Christie, L, Pichert, G, Friedel, J, Hayes, I, Burrows, N, Whittaker, S, Gerdes, A-M, Broesby-Olsen, S, Ferguson-Smith, M A, Verma, C, Lunny, D P, Reversade, B & Lane, E B 2011, ' Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1 ', Nature Genetics, vol. 43, no. 4, pp. 365-9 . https://doi.org/10.1038/ng.780

Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith disease (FSD), is an autosomal-dominant skin cancer condition characterized by multiple squamous-carcinoma-like locally invasive skin tumors that grow rapidly for a few w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25864ccf2e774c4fcf7d14160a4e9df2
https://doi.org/10.1038/ng.780

Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes

Autor: Viacheslav N. Bolshakov, Marjana Tomic-Canic, Mirjana Liovic, E. Birgitte Lane, Mariella D'Alessandro, Stephanie E. Coats

Publikováno v: Experimental cell research. 315(17)

The intermediate filament cytoskeleton is essential for the development and maintenance of normal tissue function. A number of diverse recent observations implicate these filament systems in sensing stress and protecting cells against its worst conse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f7ad64d82213eb274cb38e9f573309
https://pubmed.ncbi.nlm.nih.gov/19616543

Multiple Self-Healing Squamous Epithelioma in Different Ethnic Groups: More than a Founder Mutation Disorder?

Autor: Flemming Brandrup, Stephanie E. Coats, Ron J. Feldman, Sigurd Broesby-Olsen, Gabriella Pichert, Mariella D'Alessandro, Yukiko Koga, Anne-Marie Gerdes, David Goudie, Giampiero Girolomoni, S.M. Morley, E. Birgitte Lane, Naoko Kato, Malcolm A. Ferguson-Smith, Macarena Gomez-Lira, Lorna Mackintosh, Gianpaolo Tessari, Sean Whittaker, John C. Maize, Alberto Turco

Publikováno v: D'Alessandro, M, Coats, S E, Morley, S M, Mackintosh, L, Tessari, G, Turco, A, Gerdes, A-M, Pichert, G, Whittaker, S, Brandrup, F, Broesby-Olsen, S, Gomez-Lira, M, Girolomoni, G, Maize, J C, Feldman, R J, Kato, N, Koga, Y, Ferguson-Smith, M A, Goudie, D R & Lane, E B 2007, ' Multiple self-healing squamous epithelioma in different ethnic groups: more than a founder mutation disorder? ', Journal of Investigative Dermatology, vol. 127, no. 10, pp. 2336-2344 . https://doi.org/10.1038/sj.jid.5700914

Udgivelsesdato: 2007-Oct Multiple self-healing squamous epithelioma (MSSE), also known as Ferguson-Smith Disease, is a rare cancer-associated genodermatosis with an autosomal dominant inheritance. Affected patients suffer from recurrent skin lesions,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce3b3a4ab04b1b3b90eb639fb54020d