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  1. 2017
  2. Vahidnezhad, H, Youssefian, L, Saeidian, AH, Mahmoudi, H, Touati, A, Abiri, M, Kajbafzadeh, AM, Aristodemou, S, Liu, L, McGrath, JA, Ertel, A, Londin, E, Kariminejad, A, Zeinali, S, Fortina, P & Uitto, J 2017, 'Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy', Matrix Biology. https://doi.org/10.1016/j.matbio.2017.11.003
  3. Takeichi, T, Torrelo, A, Lee, JYW, Ohno, Y, Lozano, ML, Kihara, A, Liu, L, Yasuda, Y, Ishikawa, J, Murase, T, Rodrigo, AB, Fernández-Crehuet, P, Toi, Y, Mellerio, J, Rivera, J, Vicente, V, Kelsell, DP, Nishimura, Y, Okuno, Y, Kojima, D, Ogawa, Y, Sugiura, K, Simpson, MA, McLean, WHI, Akiyama, M & McGrath, JA 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
  4. Zu, M, Horrell, J, Snitow, M, Cui, J, Gochnauer, H, Syrett, CM, Kallish, S, Seykora, JT, Liu, F, Gaillard, D, Katz, JP, Kaestner, KH, Levin, B, Mansfield, C, Douglas, JE, Cowart, BJ, Tordoff, M, Liu, F, Zhu, X, Barlow, LA, Rubin, AI, McGrath, JA, Morrisey, EE, Chu, EY & Millar, SE 2017, 'Dual requirements for WNT10A in proliferation and KLF4-mediated differentiation underlie ectodermal dysplasia', Nature Communications, vol. 8. https://doi.org/10.1038/ncomms15397
  5. Acharya, B, Alexandre, J, Baines, S, Benes, P, Bergmann, B, Bernabéu, J, Branzas, H, Campbell, M, Caramete, L, Cecchini, S, De Montigny, M, De Roeck, A, Ellis, JR, Fairbairn, M, Felea, D, Flores, J, Frank, M, Frekers, D, Garcia, C, Hirt, AM, Janecek, J, Kalliokoski, M, Katre, A, Kim, DW, Kinoshita, K, Korzenev, A, Lacarrère, DH, Lee, SC, Leroy, C, Lionti, A, Mamuzic, J, Margiotta, A, Mauri, N, Mavromatos, NE, Mermod, P, Mitsou, VA, Orava, R, Parker, B, Pasqualini, L, Patrizii, L, Pǎvǎlaş, GE, Pinfold, JL, Popa, V, Pozzato, M, Pospisil, S, Rajantie, A, Ruiz De Austri, R, Sahnoun, Z, Sakellariadou, M, Sarkar, S, Semenoff, G, Shaa, A, Sirri, G, Sliwa, K, Soluk, R, Spurio, M, Srivastava, YN, Suk, M, Swain, J, Tenti, M, Togo, V, Tuszyński, JA, Vento, V, Vives, O, Vykydal, Z, Whyntie, T, Widom, A, Willems, G, Yoon, JH & Zgura, IS 2017, 'Search for Magnetic Monopoles with the MoEDAL Forward Trapping Detector in 13 TeV Proton-Proton Collisions at the LHC', Physical Review Letters, vol. 118, no. 6, 061801. https://doi.org/10.1103/PhysRevLett.118.061801
  6. Lee, JYW, Hsu, CK, Michael, M, Nanda, A, Liu, L, McMillan, JR, Pourreyron, C, Takeichi, T, Tolar, J, Reid, E, Hayday, T, Blumen, SC, Abu-Mouch, S, Straussberg, R, Basel-Vanagaite, L, Barhum, Y, Zouabi, Y, Al-Ajmi, H, Huang, HY, Lin, TC, Akiyama, M, Lee, JYY, McLean, WHI, Simpson, MA, Parsons, M & McGrath, JA 2017, Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. vol. 100, 2 edn, The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2017.01.014
  7. Lee, JYW, Liu, L, Hsu, C-K, Aristodemou, S, Ozoemena, L, Ogboli, M, Moss, C, Martinez, AE, Mellerio, JE & McGrath, JA 2017, 'Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex', Journal of Investigative Dermatology, vol. 137, no. 6, pp. 1378-1380. https://doi.org/10.1016/j.jid.2017.01.004
  8. Fong, K, Bailey, CV, Tuttle, P, Cunningham, B, McGrath, JA & Cho, RJ 2017, 'Questioning the Clinical Utility of Exome Sequencing in Developing Countries', Pediatric Dermatology, vol. 34, no. 1, pp. e32-e34. https://doi.org/10.1111/pde.13029
  9. Takeichi, T, Sugiura, K, Nomura, T, Sakamoto, T, Ogawa, Y, Oiso, N, Futei, Y, Fujisaki, A, Koizumi, A, Aoyama, Y, Nakajima, K, Hatano, Y, Hayashi, K, Ishida-Yamamoto, A, Fujiwara, S, Sano, S, Iwatsuki, K, Kawada, A, Suga, Y, Shimizu, H, McGrath, J & Akiyama, M 2017, 'Pityriasis rubra pilaris type v as an autoinflammatory disease by card14 mutations', JAMA dermatology, vol. 153, no. 1, pp. 66-70. https://doi.org/10.1001/jamadermatol.2016.3601
  10. 2016
  11. Zhong, FL, Mamaï, O, Sborgi, L, Boussofara, L, Hopkins, R, Robinson, K, Szeverényi, I, Takeichi, T, Balaji, R, Lau, A, Tye, H, Roy, K, Bonnard, C, Ahl, PJ, Jones, LA, Baker, P, Lacina, L, Otsuka, A, Fournie, PR, Malecaze, F, Lane, EB, Akiyama, M, Kabashima, K, Connolly, JE, Masters, SL, Soler, VJ, Omar, SS, McGrath, JA, Nedelcu, R, Gribaa, M, Denguezli, M, Saad, A, Hiller, S & Reversade, B 2016, 'Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation', Cell, vol. 167, no. 1, pp. 187–202.e17. https://doi.org/10.1016/j.cell.2016.09.001
  12. Petrova, A, Capalbo, A, Jacquet, L, Hazelwood-Smith, S, Dafou, D, Hobbs, C, Arno, M, Farcomeni, A, Devito, L, Badraiq, H, Simpson, M, Mcgrath, JA, Di, WL, Cheng, JB, Mauro, TM & Ilic, D 2016, 'Induced pluripotent stem cell differentiation and three-dimensional tissue formation attenuate clonal epigenetic differences in trichohyalin', STEM CELLS AND DEVELOPMENT, vol. 25, no. 18, pp. 1366-1375. https://doi.org/10.1089/scd.2016.0156
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