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Research Outputs

  1. 2015
  2. The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex

    Sathishkumar, D., Orrin, E., Terron-Kwiatkowski, A., Browne, F., Martinez, A. E., Mellerio, J. E., Ogboli, M., Hoey, S., Ozoemena, L., Liu, L., Baty, D., McGrath, J. A. & Moss, C., 30 Dec 2015, In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  3. 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

  4. 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

  5. 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

  6. Recently identified forms of epidermolysis bullosa

    McGrath, J. A., 1 Dec 2015, In : Annals of Dermatology. 27, 6, p. 658-666 9 p.

    Research output: Contribution to journalArticle

  7. By the Way…

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

    Research output: Contribution to journalArticle

  8. 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

  9. 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

  10. Protective effects of intermittent hypoxia on brain and memory in a mouse model of apnea of prematurity

    Bouslama, M., Adla-Biassette, H., Ramanantsoa, N., Bourgeois, T., Bollen, B., Brissaud, O., Matrot, B., Gressens, P. & Gallego, J., 4 Nov 2015, In : Frontiers in Physiology. 6, p. 313

    Research output: Contribution to journalArticle

  11. 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

  12. 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

  13. Immediate remote ischemic postconditioning after hypoxia ischemia in piglets protects cerebral white matter but not grey matter

    Ezzati, M., Bainbridge, A., Broad, K. D., Kawano, G., Oliver-Taylor, A., Rocha-Ferreira, E., Alonso-Alconada, D., Fierens, I., Rostami, J., Jane Hassell, K., Tachtsidis, I., Gressens, P., Hristova, M., Bennett, K., Lebon, S., Fleiss, B., Yellon, D., Hausenloy, D. J., Golay, X. & Robertson, N. J., 8 Oct 2015, In : Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

    Research output: Contribution to journalArticle

  14. 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

  15. 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

  16. Lentiviral Engineered Fibroblasts Expressing Codon Optimized COL7A1 Restore Anchoring Fibrils in RDEB

    Georgiadis, C., Syed, F., Petrova, A., Abdul-Wahab, A., Lwin, S. M., Farzaneh, F., Chan, L., Ghani, S., Fleck, R. A., Glover, L., McMillan, J. R., Chen, M., Thrasher, A. J., McGrath, J. A., Di, W-L. & Qasim, W., 22 Sep 2015, In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  17. Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa

    Watt, S. A., Dayal, J. H. S., Wright, S., Riddle, M., Pourreyron, C., McMillan, J. R., Kimble, R. M., Prisco, M., Gartner, U., Warbrick, E., McLean, W. H. I., Leigh, I. M., McGrath, J. A., Salas-Alanis, J. C., Tolar, J. & South, A. P., 18 Sep 2015, In : PLoS ONE. 10, 9, p. e0137639

    Research output: Contribution to journalArticle

  18. Is adermatoglyphia an additional feature of Kindler Syndrome?

    de Almeida, H. L., Goetze, F. M., Fong, K., Lai-Cheong, J. & McGrath, J., 17 Sep 2015, In : ANAIS BRASILEIROS DE DERMATOLOGIA. 90, 4, p. 592-3 2 p.

    Research output: Contribution to journalArticle

  19. EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

    Ganetzky, R., Finn, E., Bagchi, A., Zollo, O., Conlin, L., Deardorff, M., Harr, M., Simpson, M. A., McGrath, J. A., Zackai, E., Lemmon, M. A. & Sondheimer, N., Sep 2015, In : Molecular genetics & genomic medicine. 3, 5, p. 452-8 7 p.

    Research output: Contribution to journalArticle

  20. 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

  21. 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

  22. 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

  23. 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

  24. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines

    Mellerio, J. E., Robertson, S. J., Bernardis, C., Diem, A., Fine, J. D., George, R., Goldberg, D., Halmos, G. B., Harries, M., Jonkman, M. F., Lucky, A., Martinez, A. E., Maubec, E., Morris, S., Murrell, D. F., Palisson, F., Pillay, E. I., Robson, A., Salas-Alanis, J. C. & McGrath, J. A., 24 Aug 2015, In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  25. 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

  26. 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

  27. 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

  28. Familial frontal fibrosing alopecia

    Tziotzios, C., Fenton, D. A., Stefanato, C. M. & McGrath, J. A., Jul 2015, In : Journal of the American Academy of Dermatology. 73, 1, p. e37

    Research output: Contribution to journalLetter

  29. Pathophysiology and neuroprotection of global and focal perinatal brain injury: lessons from animal models

    Titomanlio, L., Fernández-López, D., Manganozzi, L., Moretti, R., Vexler, Z. S. & Gressens, P., Jun 2015, In : Pediatric Neurology. 52, 6, p. 566-84 19 p.

    Research output: Contribution to journalArticle

  30. Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3

    Agarwala, M. K., George, R., Pramanik, R. & McGrath, J. A., 19 May 2015, In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  31. Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

    Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J. R., Aristodemou, S., McGrath, J. A., Smith, F. J. D., McLean, W. H. I., Munro, C. S. & Zamiri, M., 12 May 2015, In : British Journal of Dermatology. 173, 5

    Research output: Contribution to journalLetter

  32. Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family

    Takeichi, T., Nanda, A., Aristodemou, S., McMillan, J. R., Lee, J., Akiyama, M., Al-Ajmi, H., Simpson, M. A. & McGrath, J. A., 1 May 2015, In : British Journal of Dermatology. 172, 5, p. 1407-1411 5 p.

    Research output: Contribution to journalArticle

  33. Anti-ictogenic and antiepileptogenic properties of brivaracetam in mature and immature rats

    Dupuis, N., Matagne, A., Staelens, L., Dournaud, P., Desnous, B., Gressens, P. & Auvin, S., May 2015, In : Epilepsia. 56, 5, p. 800-5 6 p.

    Research output: Contribution to journalArticle

  34. Inflammation-induced sensitization of the brain in term infants

    Fleiss, B., Tann, C. J., Degos, V., Sigaut, S., Van Steenwinckel, J., Schang, A-L., Kichev, A., Robertson, N. J., Mallard, C., Hagberg, H. & Gressens, P., Apr 2015, In : Developmental Medicine and Child Neurology. 57, S3, p. 17-28 12 p.

    Research output: Contribution to journalArticle

  35. Novel TGM5 mutations in acral peeling skin syndrome

    van der Velden, J. J. A. J., van Geel, M., Nellen, R. G. L., Jonkman, M. F., McGrath, J. A., Nanda, A., Sprecher, E., van Steensel, M. A. M., McLean, W. H. I. & Cassidy, A. J., Apr 2015, In : Experimental Dermatology. 24, 4, p. 285-9 5 p.

    Research output: Contribution to journalArticle

  36. Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ)

    Takeichi, T., Hsu, C. -K., Yang, H. -S., Chen, H. -Y., Wong, T. -W., Tsai, W. -L., Chao, S. -C., Lee, J. Y. -Y., Akiyama, M., Simpson, M. A. & McGrath, J. A., Apr 2015, In : British Journal of Dermatology. 172, 4, p. 1111-1115 5 p.

    Research output: Contribution to journalArticle

  37. The three-body problem of therapy with induced pluripotent stem cells

    Tolar, J. & McGrath, J. A., 20 Feb 2015, In : Genome medicine. 7, 1, p. 15

    Research output: Contribution to journalArticle

  38. Blood-brain barrier dysfunction in disorders of the developing brain

    Moretti, R., Pansiot, J., Bettati, D., Strazielle, N., Ghersi-Egea, J-F., Damante, G., Fleiss, B., Titomanlio, L. & Gressens, P., 17 Feb 2015, In : Frontiers in Neuroscience. 9, 15 p., 40.

    Research output: Contribution to journalArticle

  39. Transplanted bone marrow-derived circulating PDGFRα+ cells restore type VII collagen in recessive dystrophic epidermolysis bullosa mouse skin graft

    Iinuma, S., Aikawa, E., Tamai, K., Fujita, R., Kikuchi, Y., Chino, T., Kikuta, J., McGrath, J. A., Uitto, J., Ishii, M., Iizuka, H. & Kaneda, Y., 15 Feb 2015, In : Journal of Immunology. 194, 4, p. 1996-2003 8 p.

    Research output: Contribution to journalArticle

  40. Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

    Takeichi, T., Nanda, A., Liu, L., Aristodemou, S., McMillan, J. R., Sugiura, K., Akiyama, M., Al-Ajmi, H., Simpson, M. A. & McGrath, J. A., Feb 2015, In : British Journal of Dermatology. 172, 2, p. 527-31 5 p.

    Research output: Contribution to journalArticle

  41. Most individuals with either segmental or non-segmental vitiligo display evidence of bilateral cochlear dysfunction

    Anbar, T. S., El-Badry, M. M., McGrath, J. A. & Abdel-Azim, E. S., Feb 2015, In : British Journal of Dermatology. 172, 2, p. 406-11 6 p.

    Research output: Contribution to journalArticle

  42. Desmosomal Proteins and Their Role in Epidermolysis Bullosa

    McGrath, J. A., 1 Jan 2015, Blistering Diseases: Clinical Features, Pathogenesis, Treatment. Springer Berlin Heidelberg, p. 49-54 6 p.

    Research output: Chapter in Book/Report/Conference proceedingChapter

  43. Diagnosis by numbers: defining skin disease pathogenesis through collated gene signatures

    Salam, A. & McGrath, J. A., Jan 2015, In : Journal of Investigative Dermatology. 135, 1, p. 17-9 3 p.

    Research output: Contribution to journalComment/debate

  44. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

    Takeichi, T., Liu, L., Fong, K., Ozoemena, L., McMillan, J. R., Salam, A., Campbell, P., Akiyama, M., Mellerio, J. E., McLean, W. H. I., Simpson, M. A. & McGrath, J. A., Jan 2015, In : British Journal of Dermatology. 172, 1, p. 94-100 7 p.

    Research output: Contribution to journalArticle

  45. A Critical Review of Models of Perinatal Infection

    Dean, J. M., Shi, Z., Fleiss, B., Gunn, K. C., Groenendaal, F., van Bel, F., Derrick, M., Juul, S. E., Tan, S., Gressens, P., Mallard, C., Bennet, L. & Gunn, A. J., 2015, In : Developmental Neuroscience. 16 p.

    Research output: Contribution to journalArticle

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