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Research Outputs

  1. 2016
  2. 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

  3. Immune response to Mycobacterium tuberculosis in young contacts with discordant immunological test results

    Jeljeli, M., Guérin-El Khourouj, V., Hormi, M., Sterkers, G., Pommelet, V., Faye, A., Guilmin-Crepon, S. & Gressens, P., 31 Aug 2016, In : The Journal of infection.

    Research output: Contribution to journalLetter

  4. Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1

    Hsu, C-K., Liu, L., Can, P. K., Kocatürk, E., McMillan, J. R., Güngör, Ş., Hürdoğan, Ö., Sargan, A., Degirmentepe, E. N., Lee, J. Y. W., Simpson, M. A. & McGrath, J. A., 11 Aug 2016, In : Journal of Dermatological Science.

    Research output: Contribution to journalArticle

  5. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

    Izumi, K., Brett, M., Nishi, E., Drunat, S., Tan, E-S., Fujiki, K., Lebon, S., Cham, B., Masuda, K., Arakawa, M., Jacquinet, A., Yamazumi, Y., Chen, S-T., Verloes, A., Okada, Y., Katou, Y., Nakamura, T., Akiyama, T., Gressens, P., Foo, R. & 4 others, Passemard, S., Tan, E-C., El Ghouzzi, V. & Shirahige, K., 4 Aug 2016, In : American Journal of Human Genetics. 99, 2, p. 451–459

    Research output: Contribution to journalArticle

  6. Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

    Harding, BN., Moccia, A., Drunat, S., Soukarieh, O., Tubeuf, H., Chitty, LS., Verloes, A., Gressens, P., El Ghouzzi, V., Joriot, S., Di Cunto, F., Martins, A., Passemard, S. & Bielas, SL., 4 Aug 2016, In : American Journal of Human Genetics. 99, 2, p. 511–520

    Research output: Contribution to journalArticle

  7. 21st Century Research in Child Neurology: Development Disorders of the immature brain

    Gressens, P. & Ferriero, D. M., Aug 2016, In : Neurobiology of Disease. 92, Part A, p. 1-2 2 p.

    Research output: Contribution to journalEditorial

  8. Glial response to 17β-estradiol in neonatal rats with excitotoxic brain injury

    Pansiot, J., Pham, H., Dalous, J., Chevenne, D., Colella, M., Schwendimann, L., Fafouri, A., Mairesse, J., Moretti, R., Schang, A-L., Charriaut-Marlangue, C., Gressens, P. & Baud, O., Aug 2016, In : Experimental Neurology. 282, p. 56-65 10 p.

    Research output: Contribution to journalArticle

  9. Pharmacokinetics and tissue diffusion of ganciclovir in mice and rats

    Teissier, N., Boujemla, I., Fakhoury, M., Nassar, M., Adle-Biassette, H., Marie-Françoise, H., Jacqz-Aigrain, E. & Gressens, P., Aug 2016, In : Antiviral Research. 132, p. 111–115

    Research output: Contribution to journalArticle

  10. Cytomegalovirus Infection of the Rat Developing Brain In Utero Prominently Targets Immune Cells and Promotes Early Microglial Activation

    Cloarec, R., Bauer, S., Luche, H., Buhler, E., Pallesi-Pocachard, E., Salmi, M., Courtens, S., Massacrier, A., Grenot, P., Teissier, N., Watrin, F., Schaller, F., Adle-Biassette, H., Gressens, P., Malissen, M., Stamminger, T., Streblow, D. N., Bruneau, N. & Szepetowski, P., 29 Jul 2016, In : PLoS ONE. 11, 7, e0160176.

    Research output: Contribution to journalArticle

  11. Melatonin modulates neonatal brain inflammation through ER stress, autophagy and miR-34a/SIRT1 pathway

    Carloni, S., Favrais, G., Saliba, E., Albertini, M. C., Chalon, S., Longini, M., Gressens, P., Buonocore, G. & Balduini, W., 21 Jul 2016, In : Journal of Pineal Research.

    Research output: Contribution to journalArticle

  12. Syndromic inherited poikiloderma due to a de novo mutation in FAM111B

    Takeichi, T., Nanda, A., Yang, H., Hsu, C., Lee, J., Al-ajmi, H., Akiyama, M., Simpson, M. A. & Mcgrath, J. A., 1 Jul 2016, In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  13. Ichthyosis Prematurity Syndrome: From Fetus to Adulthood

    Lwin, S. M., Hsu, C-K., McMillan, J. R., Mellerio, J. E. & McGrath, J. A., 25 May 2016, In : JAMA dermatology.

    Research output: Contribution to journalLetter

  14. Frontal fibrosing alopecia: reflections and hypotheses on etiology and pathogenesis

    Tziotzios, C., Stefanato, C. M., Fenton, D. A., Simpson, M. A. & McGrath, J. A., 20 May 2016, In : Experimental Dermatology.

    Research output: Contribution to journalArticle

  15. 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

  16. 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

  17. Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti

    Guevara, B. E. K., Hsu, C-K., Liu, L., Feast, A., Alabado, K. L. P., Lacuesta, M. P. M., Lee, J. Y-Y. & McGrath, J. A., May 2016, In : The Australasian journal of dermatology. 57, 2, p. 150–153

    Research output: Contribution to journalArticle

  18. Incontinentia pigmenti in a father and daughter

    Rashidghamat, E., Hsu, C-K., Nanda, A., Liu, L., Al-Ajmi, H. & McGrath, J. A., 1 Apr 2016, In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  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. Modulation of the Innate Immune Response by Human Neural Precursors Prevails over Oligodendrocyte Progenitor Remyelination to Rescue a Severe Model of Pelizaeus-Merzbacher Disease

    Marteyn, A., Sarrazin, N., Yan, J., Bachelin, C., Deboux, C., Santin, M. D., Gressens, P., Zujovic, V. & Baron-Van Evercooren, A., Apr 2016, In : Stem Cells. 34, 4, p. 984-96 13 p.

    Research output: Contribution to journalArticle

  21. 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

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

    Bouslama, M., Adle-Biassette, H., Ramanantsoa, N., Bourgeois, T., Bollen, B., Brissaud, O., Matrot, B., Gressens, P. & Gallego, J., 22 Mar 2016, In : Frontiers in Physiology. 7, p. 105

    Research output: Contribution to journalArticle

  23. Dynamic Expression Patterns of Progenitor and Pyramidal Neuron Layer Markers in the Developing Human Hippocampus

    Cipriani, S., Nardelli, J., Verney, C., Delezoide, A-L., Guimiot, F., Gressens, P. & Adle-Biassette, H., Mar 2016, In : Cerebral cortex (New York, N.Y. : 1991). 26, 3, p. 1255-1271 17 p.

    Research output: Contribution to journalArticle

  24. Inhaled 45-50% argon augments hypothermic brain protection in a piglet model of perinatal asphyxia

    Broad, K. D., Fierens, I., Fleiss, B., Rocha-Ferreira, E., Ezzati, M., Hassell, J., Alonso-Alconada, D., Bainbridge, A., Kawano, G., Ma, D., Tachtsidis, I., Gressens, P., Golay, X., Sanders, R. D. & Robertson, N. J., Mar 2016, In : Neurobiology of disease. 87, p. 29-38 10 p.

    Research output: Contribution to journalArticle

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 2015
  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. By the Way…

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

    Research output: Contribution to journalArticle

  39. 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

  40. 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

  41. 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

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

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