Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation
Zhong, Franklin L., Mamaï, Ons, Sborgi, Lorenzo, Boussofara, Lobna, Hopkins, Richard, Robinson, Kim, Szeverényi, Ildikó, Takeichi, Takuya, Balaji, Reshmaa, Lau, Aristotle, Tye, Hazel, Roy, Keya, Bonnard, Carine, Ahl, Patricia J., Jones, Leigh Ann, Baker, Paul J., Lacina, Lukas, Otsuka, Atsushi, Fournie, Pierre R., Malecaze, François, Lane, E. Birgitte, Akiyama, Masashi, Kabashima, Kenji, Connolly, John E., Masters, Seth L., Soler, Vincent J., Omar, Salma Samir, McGrath, John A., Nedelcu, Roxana, Gribaa, Moez, Denguezli, Mohamed, Saad, Ali, Hiller, Sebastian, Reversade, Bruno
Published in Cell (22.09.2016)
Published in Cell (22.09.2016)
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Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1
GOUDIE, David R, D'ALESSANDRO, Mariella, CHRISTIE, Lesley, PICHERT, Gabriella, FRIEDEL, Jean, HAYES, Ian, BURROWS, Nigel, WHITTAKER, Sean, GERDES, Anne-Marie, BROESBY-OLSEN, Sigurd, FERGUSON-SMITH, Malcolm A, VERMA, Chandra, MERRIMAN, Barry, LUNNY, Declan P, REVERSADE, Bruno, BIRGITTE LANE, E, LEE, Hane, SZEVERENYI, Ildikó, AVERY, Stuart, O'CONNOR, Brian D, NELSON, Stanley F, COATS, Stephanie E, STEWART, Arlene
Published in Nature genetics (01.04.2011)
Published in Nature genetics (01.04.2011)
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Somatic mutations in facial skin from countries of contrasting skin cancer risk
King, Charlotte, Fowler, Joanna C, Abnizova, Irina, Sood, Roshan K, Hall, Michael W J, Szeverényi, Ildikó, Tham, Muly, Huang, Jingxiang, Young, Stephanie Ming, Hall, Benjamin A, Birgitte Lane, E, Jones, Philip H
Published in Nature genetics (01.09.2023)
Published in Nature genetics (01.09.2023)
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The reference genome of Macropodus opercularis (the paradise fish)
Fodor, Erika, Okendo, Javan, Szabó, Nóra, Szabó, Kata, Czimer, Dávid, Tarján-Rácz, Anita, Szeverényi, Ildikó, Low, Bi Wei, Liew, Jia Huan, Koren, Sergey, Rhie, Arang, Orbán, László, Miklósi, Ádám, Varga, Máté, Burgess, Shawn M
Published in Scientific data (25.05.2024)
Published in Scientific data (25.05.2024)
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Oxygen-Mediated Control of the Keratinocyte Proliferation-Differentiation Axis
Koh, Rosita, Szeverényi, Ildikó, Lee, Bernett, Denil, Simon L.I.J., Lim, Soon Yew John, Benny, Paula A., Grasset, Nicolas, Tan, Bien-Keem, Lane, E. Birgitte
Published in Journal of investigative dermatology (01.01.2020)
Published in Journal of investigative dermatology (01.01.2020)
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Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma
Badowski, Cedric, Sim, Adelene Y.L., Verma, Chandra, Szeverényi, Ildikó, Natesavelalar, Chidambaram, Terron-Kwiatkowski, Ana, Harper, John, O’Toole, Edel A., Lane, E. Birgitte
Published in Journal of investigative dermatology (01.09.2017)
Published in Journal of investigative dermatology (01.09.2017)
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The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases
Szeverenyi, Ildiko, Cassidy, Andrew J., Chung, Cheuk Wang, Lee, Bernett T.K., Common, John E.A., Ogg, Stephen C., Chen, Huijia, Sim, Shu Yin, Goh, Walter L.P., Ng, Kee Woei, Simpson, John A., Chee, Li Lian, Eng, Goi Hui, Li, Bin, Lunny, Declan P., Chuon, Danny, Venkatesh, Aparna, Khoo, Kian Hoe, McLean, W.H. Irwin, Lim, Yun Ping, Lane, E. Birgitte
Published in Human mutation (01.03.2008)
Published in Human mutation (01.03.2008)
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Assays to Study Consequences of Cytoplasmic Intermediate Filament Mutations: The Case of Epidermal Keratins
Tan, Tong San, Ng, Yi Zhen, Badowski, Cedric, Dang, Tram, Common, John E A, Lacina, Lukas, Szeverényi, Ildikó, Lane, E Birgitte
Published in Methods in enzymology (01.01.2016)
Published in Methods in enzymology (01.01.2016)
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Establishing an efficient Ac/Ds tagging system in rice: large‐scale analysis of Ds flanking sequences
Kolesnik, Tatiana, Szeverenyi, Ildiko, Bachmann, Doris, Kumar, Chellian Santhosh, Jiang, Shuye, Ramamoorthy, Rengasamy, Cai, Minnie, Ma, Zhi Gang, Sundaresan, Venkatesan, Ramachandran, Srinivasan
Published in The Plant journal : for cell and molecular biology (01.01.2004)
Published in The Plant journal : for cell and molecular biology (01.01.2004)
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Loss of keratin 14 expression from immortalized keratinocytes by promoter methylation
Koh, Rosita, Szeverenyi, Ildiko, Lunny, Declan P., Eng, Goi Hui, Lane, E. Birgitte
Published in Experimental dermatology (01.08.2024)
Published in Experimental dermatology (01.08.2024)
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Author Correction: Somatic mutations in facial skin from countries of contrasting skin cancer risk
King, Charlotte, Fowler, Joanna C., Abnizova, Irina, Sood, Roshan K., Hall, Michael W. J., Szeverényi, Ildikó, Tham, Muly, Huang, Jingxiang, Young, Stephanie Ming, Hall, Benjamin A., Birgitte Lane, E., Jones, Philip H.
Published in Nature genetics (01.09.2023)
Published in Nature genetics (01.09.2023)
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Journal Article
Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex
Atkinson, Sarah D., McGilligan, Victoria E., Liao, Haihui, Szeverenyi, Ildiko, Smith, Frances J.D., Tara Moore, C.B., Irwin McLean, W.H.
Published in Journal of investigative dermatology (01.10.2011)
Published in Journal of investigative dermatology (01.10.2011)
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Cytological and transcriptomic analysis reveals new features of multiple self-healing squamous epithelioma (MSSE)
Ng, Yi-Zhen, Lacina, Lukas, Lunny, Declan P, Benny, Paula-Beth, Gerdes, Anne-Marie, Broesby-Olsen, Sigurd, Martin, Ludovic, Parmentier, Laurent, Ebzery, Camron, Goodwin, Annabel, Hohl, Daniel, Szeverenyi, Ildiko, Lane, E. Birgitte
Published in Journal of dermatological science (01.10.2016)
Published in Journal of dermatological science (01.10.2016)
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Association of Skin Barrier Genes within the PSORS4 Locus Is Enriched in Singaporean Chinese with Early-Onset Psoriasis
Chen, Huijia, Toh, Terry K.L., Szeverenyi, Ildiko, Ong, Rick T.H., Theng, Colin T.S., Irwin McLean, W.H., Seielstad, Mark, Birgitte Lane, E.
Published in Journal of investigative dermatology (01.03.2009)
Published in Journal of investigative dermatology (01.03.2009)
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Journal Article
The reference genome of the paradise fish ( Macropodus opercularis )
Fodor, Erika, Okendo, Javan, Szabó, Nóra, Szabó, Kata, Czimer, Dávid, Tarján-Rácz, Anita, Szeverényi, Ildikó, Low, Bi Wei, Liew, Jia Huan, Koren, Sergey, Rhie, Arang, Orbán, László, Miklósi, Ádám, Varga, Máté, Burgess, Shawn M
Published in bioRxiv : the preprint server for biology (10.08.2023)
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Published in bioRxiv : the preprint server for biology (10.08.2023)
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Abstract LB-245: Loss of function of the TGFβRI receptor leads to the spontaneously regressing squamous carcinoma condition, multiple self-healing squamous epithelioma (Ferguson-Smith disease)
Goudie, David R., D'Alessandro, Mariella, Merriman, Barry, Lee, Hane, Szeverényi, Ildiko, Avery, Stuart, O'Connor, Brian D., Nelson, Stanley F., Coats, Stephanie E., Stewart, Arlene A., Christie, Lesley, Pichert, Gabriella, Friedel, Jean, Hayes, Ian, Burrows, Nigel, Whittaker, Sean, Gerdes, Anne-Marie, Broesby-Olsen, Sigurd, Ferguson-Smith, Malcolm A., Verma, Chandra, Lunny, Declan P., Reversade, Bruno, Lane, E. Birgitte
Published in Cancer research (Chicago, Ill.) (15.04.2011)
Published in Cancer research (Chicago, Ill.) (15.04.2011)
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