Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

Autor: Vachiranee Limviphuvadh, Charles A. Mein, Stephan Weidinger, Hansjörg Baurecht, John E.A. Common, Michael A. Simpson, Edel A. O'Toole, Sebastian Maurer-Stroh, Alan D. Irvine, Jianjun Liu, Xuan Fei Colin C. Wong, Nicholas Lench, David A. van Heel, Natalija Novak, David P. Kelsell, David J. Margolis, Herty Liany, W.H. Irwin McLean, Claire A. Scott, Niloofar Tabarra, Mark B Y Tang, Sajid Malik, Manuela Pigors

Publikováno v: Pigors, M, Common, J E A, Wong, X F C C, Malik, S, Scott, C A, Tabarra, N, Liany, H, Liu, J, Limviphuvadh, V, Maurer-Stroh, S, Tang, M BY, Lench, N, Margolis, D J, van Heel, D A, Mein, C A, Novak, N, Baurecht, H, Weidinger, S, McLean, W H I, Irvine, A D, O’Toole, E A, Simpson, M A & Kelsell, D P 2018, ' Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes ', Journal of Investigative Dermatology, vol. 138, no. 12, pp. 2674-2677 . https://doi.org/10.1016/j.jid.2018.05.013

M.P was supported by a Fellowship from the German Research Foundation (DFG). This work received infrastructure support through the DFG Cluster of Excellence “Inflammation at Interfaces” (grants EXC306 and EXC306/2), and was supported by grants (W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::090b345f9da4b3670d6facdfe4584394
https://doi.org/10.1016/j.jid.2018.05.013

Development of a Corneal Bioluminescence Mouse for Real-Time In Vivo Evaluation of Gene Therapies

Autor: Deena M. Leslie Pedrioli, Dun Jack Fu, Robyn P. Hickerson, W.H. Irwin McLean, Edwin H. A. Allen

Publikováno v: Translational Vision Science & Technology

Purpose The purpose of this study was to develop and characterize a novel bioluminescence transgenic mouse model that facilitates rapid evaluation of genetic medicine delivery methods for inherited and acquired corneal diseases. Methods Corneal expre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a09240c7900ad65699c7e7d7d16492b
http://europepmc.org/articles/PMC7774114

Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts

Autor: W.H. Irwin McLean, Toshifumi Nomura, Masae Takeda, Kota Ono, Satoru Shinkuma, Hiroshi Shimizu, Shotaro Suzuki, Osamu Nemoto, Osamu Mizuno, Yuka Ohguchi, Toshinari Miyauchi, Yasuyuki Fujita

Publikováno v: Journal of Investigative Dermatology. 138:836-843

Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive skin disorder with a high, unmet medical need that is caused by mutations in SERPINB7. Almost all NPPK patients carry the founder nonsense mutation c.796C>T (p.Arg266Ter) in the l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff532a14513df3cf17afa75d894b458d
https://doi.org/10.1016/j.jid.2017.10.014

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

Autor: Maria Luisa Lozano, Pablo Fernández-Crehuet, Junko Ishikawa, Vicente Vicente, Kazumitsu Sugiura, Jemima E. Mellerio, Daiei Kojima, Masashi Akiyama, Yusuke Ohno, Antonio Torrelo, David P. Kelsell, Yoichiro Toi, Yuka Yasuda, Michael A. Simpson, Takuya Takeichi, Yusuke Okuno, Ana Belén Rodrigo, José Rivera, Takatoshi Murase, Lu Liu, John A. McGrath, Yasushi Ogawa, W.H. Irwin McLean, Akio Kihara, John Y.W. Lee, Yutaka Nishimura

Publikováno v: The Journal of Investigative Dermatology
Takeichi, T, Torrelo, A, Lee, J Y W, Ohno, Y, Lozano, M L, Kihara, A, Liu, L, Yasuda, Y, Ishikawa, J, Murase, T, Rodrigo, A B, Fernández-Crehuet, P, Toi, Y, Mellerio, J, Rivera, J, Vicente, V, Kelsell, D P, Nishimura, Y, Okuno, Y, Kojima, D, Ogawa, Y, Sugiura, K, Simpson, M A, McLean, W H I, Akiyama, M & McGrath, J A 2017, ' Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia ', Journal of Investigative Dermatology, vol. 137, no. 11, pp. 2344-2353 . https://doi.org/10.1016/j.jid.2017.06.028
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Mutations in ceramide biosynthesis pathways have been implicated in a few Mendelian disorders of keratinization although ceramides are known to have key roles in several biological processes in skin and other tissues. Using whole-exome sequencing in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::387277aa0dc7345a1115197fce52e4a2
http://europepmc.org/articles/PMC5646945

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

Autor: Jianjun Liu, Rebecca L. Haines, Simon Denil, X.F. Colin C. Wong, Angeline S. L. Tay, Aileen Sandilands, Frances J.D. Smith, W.H. Irwin McLean, Mark B Y Tang, E. Birgitte Lane, Jia Nee Foo, John E.A. Common, Huijia Chen

Publikováno v: The Journal of Allergy and Clinical Immunology

The filaggrin gene (FLG) is essential for skin differentiation and epidermal barrier formation. FLG loss-of-function (LoF) variants are associated with ichthyosis vulgaris and the major genetic risk factor for developing atopic dermatitis (AD).1, 2,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d44f48be3c7e44794c42dfc01aafb3c
https://doi.org/10.1016/j.jaci.2017.10.001