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Research Outputs

  1. 2017
  2. Fragilité cutanée et kératodermie palmoplantaire : pensez (aussi) au PLACK Syndrome: Journées Dermatologiques de Paris 2017

    Alkhalifah, A., Chiaverini, C., Del Giudice, P., Supsrisunjai, C., Hsu, C. K., Liu, L., Charlesworth, A., McGrath, J. A. & Lacour, J. P., Dec 2017, In : Annales De Dermatologie et De Venereologie. 144, 12, Supplement, p. S79-S80

    Research output: Contribution to journalMeeting abstract

  3. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy

    Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Mahmoudi, H., Touati, A., Abiri, M., Kajbafzadeh, A. M., Aristodemou, S., Liu, L., McGrath, J. A., Ertel, A., Londin, E., Kariminejad, A., Zeinali, S., Fortina, P. & Uitto, J., 11 Nov 2017, In : Matrix Biology.

    Research output: Contribution to journalArticle

  4. 227 Patient pre-selection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa: ESDR 2017 Annual Meeting47th Annual ESDR Meeting

    Lwin, S. M., Gaucher, S., Titeux, M., Abdul-Wahab, A., Pironon, N., Miskinyte, S., GANIER, C., Duchatelet, S., McGrath, J. & Hovnanian, A., 8 Sep 2017, In : Journal of Investigative Dermatology. 137, 10, Supplement 2, p. S231

    Research output: Contribution to journalArticle

  5. 261 Tissue and circulating microRNA co-expression analysis reveals potential involvement of miRNAs in the pathobiology of frontal fibrosing alopecia: ESDR 2017 Annual Meeting47th Annual ESDR Meeting

    Tziotzios, C., Ainali, C., Onoufriadis, A., Cunningham, F., Palamaras, I., Stefanato, C. M., Kirkpatrick, N., Vano-Galvan, S., Fenton, D. A. & McGrath, J., 8 Sep 2017, In : Journal of Investigative Dermatology. 137, 10, Supplement 2, p. S237

    Research output: Contribution to journalMeeting abstract

  6. Reactive astrocyte COX2-PGE2 production inhibits oligodendrocyte maturation in neonatal white matter injury

    Shiow, L. R., Favrais, G., Schirmer, L., Schang, A-L., Cipriani, S., Andres, C., Wright, J. N., Nobuta, H., Fleiss, B., Gressens, P. & Rowitch, D. H., 30 Aug 2017, In : Glia.

    Research output: Contribution to journalArticle

  7. 515 Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex: SID 2017 Annual Meeting Abstract SupplementSociety for Investigative Dermatology Annual Meeting

    Lee, J. Y. W., Liu, L., Hsu, C., Aristodemou, S., Ozoemena, L., Ogboli, M., Moss, C., Martinez, A. E., Mellerio, J. E. & McGrath, J., May 2017, In : Journal of Investigative Dermatology. 137, 5, Supplement 1, p. S88

    Research output: Contribution to journalMeeting abstract

  8. Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

    Dinani, N., Ali, M., Liu, L., McGrath, J. & Mellerio, J., 16 Mar 2017, In : Clinical and Experimental Dermatology. 42, 3, p. 316-319 4 p.

    Research output: Contribution to journalArticle

  9. ATR gene mutations in HPV negative oropharyngeal cancer

    Jeannon, J. P., Tanaka, A., Thavaraj, S., Guerrero-Urbano, T., McGrath, J. A. & Tavassoli, M., 1 Feb 2017, In : ORAL ONCOLOGY. 65, p. 121-123 3 p.

    Research output: Contribution to journalLetter

  10. Questioning the Clinical Utility of Exome Sequencing in Developing Countries

    Fong, K., Bailey, C. V., Tuttle, P., Cunningham, B., McGrath, J. A. & Cho, R. J., 5 Jan 2017, In : Pediatric Dermatology. 34, 1, p. e32-e34

    Research output: Contribution to journalArticle

  11. Pityriasis rubra pilaris type v as an autoinflammatory disease by card14 mutations

    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. & 2 others, McGrath, J. & Akiyama, M., 1 Jan 2017, In : JAMA dermatology. 153, 1, p. 66-70 5 p.

    Research output: Contribution to journalArticle

  12. Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing

    Saito, R., Boyce, A., Hsu, C., Rashidghamat, E., Hide, M., Wedgeworth, E. K., Flohr, C., Mellerio, J. E. & Mcgrath, J. A., 1 Jan 2017, In : British Journal of Dermatology. 176, 1, p. 249-251

    Research output: Contribution to journalLetter

  13. 2016
  14. Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

    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. & 14 others, Lane, E. B., Akiyama, M., Kabashima, K., Connolly, JE., Masters, SL., Soler, VJ., Omar, SS., McGrath, J. A., Nedelcu, R., Gribaa, M., Denguezli, M., Saad, A., Hiller, S. & Reversade, B., 22 Sep 2016, In : Cell. 167, 1, p. 187–202.e17

    Research output: Contribution to journalArticle

  15. Induced pluripotent stem cell differentiation and three-dimensional tissue formation attenuate clonal epigenetic differences in trichohyalin

    Petrova, A., Capalbo, A., Jacquet, L., Hazelwood-Smith, S., Dafou, D., Hobbs, C., Arno, M., Farcomeni, A., Devito, L., Badraiq, H., Simpson, M., Mcgrath, J. A., Di, W. L., Cheng, J. B., Mauro, T. M. & Ilic, D., 1 Sep 2016, In : STEM CELLS AND DEVELOPMENT. 25, 18, p. 1366-1375 10 p.

    Research output: Contribution to journalArticle

  16. Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14

    Lwin, S. M., Hsu, C., Liu, L., Levell, N. & McGrath, J., Sep 2016, In : Journal of Investigative Dermatology. 136, 9, Supplement 2, p. S162 008.

    Research output: Contribution to journalMeeting abstract

  17. 097 Rigosertib for the treatment of squamous cell carcinoma in recessive dystrophic epidermolysis bullosa: SID 2016 Annual Meeting Abstract SupplementSociety for Investigative Dermatology (SID) Annual Meeting

    Pourreyron, C., Watt, S. A., Wright, S., Gruber, C., Prisco, M., McGrath, J. A., Mellerio, J. E., Bauer, J. & South, A., May 2016, In : Journal of Investigative Dermatology. 136, 5, Supplement 1, p. S17

    Research output: Contribution to journalMeeting abstract

  18. 263 Skin engraftment and type VII collagen (C7) expression after allogeneic hematopoietic cell transplantation (HCT) for generalized severe recessive dystrophic epidermolysis bullosa (RDEB): SID 2016 Annual Meeting Abstract SupplementSociety for Investigative Dermatology (SID) Annual Meeting

    Tolar, J., McGrath, J. A., Osborn, M. J., Keene, D., Hook, K., Hordinsky, M. K., Marinkovich, P., Woodley, D., Chen, M., Hovnanian, A., Tamai, K., Blazar, B. & Wagner, J. A., May 2016, In : Journal of Investigative Dermatology. 136, 5, Supplement 1, p. S46

    Research output: Contribution to journalMeeting abstract

  19. Finasteride is of uncertain utility in treating frontal fibrosing alopecia

    Tziotzios, C., Fenton, D. A., Stefanato, C. M. & McGrath, J. A., Apr 2016, In : Journal of the American Academy of Dermatology. 74, 4, p. e73-e74

    Research output: Contribution to journalLetter

  20. Venturing into the New Science of Nucleases

    Tolarova, M., McGrath, J. A. & Tolar, J., Apr 2016, In : Journal of Investigative Dermatology. 136, 4, p. 742–745

    Research output: Contribution to journalComment/debate

  21. Mesenchymal stem cell therapy for recessive dystrophic epidermolysis bullosa: prospects and clinical progress

    Rashidghamat, E., Mellerio, J. E., Martinez, A. E. & McGrath, J. A., 19 Feb 2016, In : Expert opinion on orphan drugs. 4, 4, p. 343-345 3 p.

    Research output: Contribution to journalArticle

  22. Rare inherited skin diseases and the Genomics England 100,000 Genome Project

    McGrath, J. A., 12 Feb 2016, In : British Journal of Dermatology. 174, 2, p. 257-258

    Research output: Contribution to journalEditorial

  23. Mutations in EXPH5 (exophilin-5) underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex

    Rashidghamat, E., Ozoemena, L., Liu, L., McGrath, J. A., Martinez, A. E. & Mellerio, J. E., Feb 2016, In : British Journal of Dermatology. 174, 2, p. 452–453

    Research output: Contribution to journalArticle

  24. Progress towards treatment and cure of epidermolysis bullosa: summary of DEBRA International Research Symposium EB2015

    Uitto, J., Bruckner-Tuderman, L., Christiano, A. M., McGrath, J. A., Has, C., South, A. P., Kopelan, B. & Robinson, E. C., Feb 2016, In : Journal of Investigative Dermatology. 136, 2, p. 352-358

    Research output: Contribution to journalMeeting abstract

  25. Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory

    Passemard, S., Verloes, A., Billette de Villemeur, T., Boespflug-Tanguy, O., Hernandez, K., Laurent, M., Isidor, B., Alberti, C., Pouvreau, N., Drunat, S., Gérard, B., El Ghouzzi, V., Gallego, J., Elmaleh-Bergès, M., Huttner, W. B., Eliez, S., Gressens, P. & Schaer, M., Jan 2016, In : Cortex; a journal devoted to the study of the nervous system and behavior. 74, p. 158-76 19 p.

    Research output: Contribution to journalArticle

  26. Impaired oligodendrocyte maturation in preterm infants: Potential therapeutic targets

    van Tilborg, E., Heijnen, C. J., Benders, M. J., van Bel, F., Fleiss, B., Gressens, P. & Nijboer, C. H., Jan 2016, In : Progress in Neurobiology. 136, p. 28-49

    Research output: Contribution to journalArticle

  27. Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC

    Martins, V. L., Caley, M. P., Moore, K., Szentpetery, Z., Marsh, S. T., Murrell, D. F., Kim, M. H., Avari, M., McGrath, J. A., Cerio, R., Kivisaari, A., Kähäri, V. M., Hodivala-Dilke, K., Brennan, C. H., Chen, M., Marshall, J. F. & O'Toole, E. A., Jan 2016, In : Journal of the National Cancer Institute. 108, 1

    Research output: Contribution to journalArticle

  28. 2015
  29. The cytolinker plectin regulates nuclear mechanotransduction in keratinocytes

    Almeida, F. V., Walko, G., McMillan, J. R., McGrath, J. A., Wiche, G., Barber, A. H. & Connelly, J. T., 15 Dec 2015, In : Journal of Cell Science. 128, 24, p. 4475-4486 12 p.

    Research output: Contribution to journalArticle

  30. Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function

    Takeichi, T., Sugiura, K., Hsu, C-K., Nomura, T., Takama, H., Simpson, M. A., Shimizu, H., McGrath, J. A. & Akiyama, M., 3 Dec 2015, In : Acta Dermato-Venereologica.

    Research output: Contribution to journalArticle

  31. Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations in KITLG

    Cuell, A., Bansal, N., Cole, T., Kaur, M. R., Lee, J., Loffeld, A., Moss, C., O'Donnell, M., Takeichi, T., Thind, C. K. & McGrath, J. A., 1 Dec 2015, In : Clinical and Experimental Dermatology. 40, 8, p. 860-864 5 p.

    Research output: Contribution to journalArticle

  32. By the Way…

    Tarazi, C., Gressens, P. & Dammann, O., Dec 2015, In : Pediatric Research. 78, 6, p. 602

    Research output: Contribution to journalArticle

  33. Autosomal dominant diffuse non-epidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

    Abdul-Wahab, A., Takeichi, T., Liu, L., Lomas, D., Hughes, B., Akiyama, M., McGrath, J. A. & Mellerio, J. E., 12 Nov 2015, In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  34. Familial Primary Localized Cutaneous Amyloidosis Results from Either Dominant or Recessive Mutations in OSMR

    Wali, A., Liu, L., Takeichi, T., Jelani, M., Rahman, O. U., Heng, Y. K., Thng, S., Lee, J., Akiyama, M., McGrath, J. A. & Betz, R. C., 4 Nov 2015, In : Acta Dermato-Venereologica. 95, 8, p. 1005-1007 3 p.

    Research output: Contribution to journalArticle

  35. Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

    Takeichi, T., Sugiura, K., Tso, S., Simpson, M. A., McGrath, J. A. & Akiyama, M., 27 Oct 2015, In : Journal of Dermatological Science.

    Research output: Contribution to journalArticle

  36. Controversies in preterm brain injury

    Penn, A. A., Gressens, P., Fleiss, B., Back, S. A. & Gallo, V., 23 Oct 2015, In : Neurobiology of disease.

    Research output: Contribution to journalArticle

  37. Dynamic Expression Patterns of Progenitor and Neuron Layer Markers in the Developing Human Dentate Gyrus and Fimbria

    Cipriani, S., Journiac, N., Nardelli, J., Verney, C., Delezoide, A-L., Guimiot, F., Gressens, P. & Adle-Biassette, H., 5 Oct 2015, In : Cerebral cortex (New York, N.Y. : 1991). p. 1-15

    Research output: Contribution to journalArticle

  38. Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS

    Hsu, C-K., Saito, R., Nanda, A., Rashidghamat, E., Al-Ajmi, H., Lee, J. Y-Y., Hide, M. & McGrath, J. A., 23 Sep 2015, In : Australasian Journal of Dermatology.

    Research output: Contribution to journalArticle

  39. Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis

    Takeichi, T., Sugiura, K., Hsu, C-K., Tanahashi, K., Takama, H., Simpson, M. A., McGrath, J. A. & Akiyama, M., Sep 2015, In : Journal of Dermatological Science. 79, 3, p. 317-9 3 p.

    Research output: Contribution to journalArticle

  40. Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa

    Petrof, G., Lwin, S. M., Martinez-Queipo, M., Abdul-Wahab, A., Tso, S., Mellerio, J. E., Slaper-Cortenbach, I., Boelens, J. J., Tolar, J., Veys, P., Ofuya, M., Peacock, J., Martinez, A. E. & McGrath, J. A., Sep 2015, In : Journal of Investigative Dermatology.

    Research output: Contribution to journalLetter

  41. Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa

    Geyer, M. B., Radhakrishnan, K., Giller, R., Umegaki, N., Harel, S., Kiuru, M., Morel, K. D., LeBoeuf, N., Kandel, J., Bruckner, A., Fabricatore, S., Chen, M., Woodley, D., McGrath, J., Baxter-Lowe, L., Uitto, J., Christiano, A. M. & Cairo, M. S., Sep 2015, In : Journal of pediatrics. 167, 3, p. 765-9.e1

    Research output: Contribution to journalArticle

  42. Trans-Modulation of the Somatostatin Type 2A Receptor Trafficking by Insulin-Regulated Aminopeptidase Decreases Limbic Seizures

    De Bundel, D., Fafouri, A., Csaba, Z., Loyens, E., Lebon, S., El Ghouzzi, V., Peineau, S., Vodjdani, G., Kiagiadaki, F., Aourz, N., Coppens, J., Walrave, L., Portelli, J., Vanderheyden, P., Chai, S. Y., Thermos, K., Bernard, V., Collingridge, G., Auvin, S., Gressens, P. & 2 others, Smolders, I. & Dournaud, P., 26 Aug 2015, In : Journal of Neuroscience. 35, 34, p. 11960-75 16 p.

    Research output: Contribution to journalArticle

  43. Activating CARD14 Mutations are Associated with Generalised Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris

    Berki, D. M., Liu, L., Choon, S-E., David Burden, A., Griffiths, C. E., Navarini, A. A., Tan, E. S., Irvine, A. D., Ranki, A., Ogo, T., Petrof, G., Mahil, S. K., Duckworth, M., Allen, M. H., Vito, P., Trembath, R., McGrath, J., Smith, C. H., Capon, F. & Barker, J. N., 13 Aug 2015, In : Journal of Investigative Dermatology. 135, p. 2964–297

    Research output: Contribution to journalArticle

  44. Altered cytokine profiles in children with indeterminate quantiferon results and common infections

    Jeljeli, M., Guérin-El Khourouj, V., de Lauzanne, A., Armand, M., Chhor, V., Pédron, B., Dauger, S., Viala, J., Gressens, P., Faye, A. & Sterkers, G., Aug 2015, In : The Journal of infection. 71, 2, p. 250-7 8 p.

    Research output: Contribution to journalArticle

  45. Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2

    Fong, K., Takeichi, T., Liu, L., Pramanik, R., Lee, J., Akiyama, M. & McGrath, J. A., 1 Jul 2015, In : Clinical and Experimental Dermatology. 40, 5, p. 529-532 4 p.

    Research output: Contribution to journalArticle

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