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Research Outputs

  1. 2017
  2. Integrative genomics of microglia implicates DLG4 (PSD95) in the white matter development of preterm infants

    Krishnan, M. L., Van Steenwinckel, J., Schang, A., Yan, J., Arnadottir, J., Le Charpentier, T., Csaba, Z., Dournaud, P., Cipriani, S., Auvynet, C., Titomanlio, L., Pansiot, J., Ball, G., Boardman, J. P., Walley, A. J., Saxena, A., Mirza, G., Fleiss, B., Edwards, A. D., Petretto, E. & 1 others, Gressens, P., 1 Dec 2017, In : Nature Communications. 8, 1

    Research output: Contribution to journalArticle

  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. Caveolin-1 controls hyperresponsiveness to mechanical stimuli and fibrogenesis-associated RUNX2 activation in keloid fibroblasts

    Hsu, C-K., Lin, H-H., Harn, H. I-C., Ogawa, R., Wang, Y-K., Ho, Y-T., Chen, W-R., Lee, Y-C., Lee, J. Y-Y., Shieh, S-J., Cheng, C-M., McGrath, J. A. & Tang, M-J., 9 Sep 2017, In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  5. 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

  6. Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45

    Straussberg, R., Onoufriadis, A., Konen, O., Zouabi, Y., Cohen, L., Lee, J. Y. W., Hsu, C-K., Simpson, M. A. & McGrath, J. A., 8 Sep 2017, In : American Journal of Medical Genetics. Part A.

    Research output: Contribution to journalArticle

  7. Amelexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: Potential for recessive dystrophic epidermolysis bullosa

    Atanasova, V., Jiang, Q., Prisco, M., Gruber, C., Piñón Hofbauer, J., Chen, M., Has, C., Leena, B-T., McGrath, J. A., Uitto, J. & South, A. P., 1 Sep 2017, In : Journal of Investigative Dermatology. 137, 9, p. 1842-1849

    Research output: Contribution to journalArticle

  8. 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

  9. Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia

    Takeichi, T., Torrelo, A., Lee, J. Y. W., Ohno, Y., Lozano, M. L., Kihara, A., Liu, L., Yasuda, Y., Ishikawa, J., Murase, T., Rodrigo, A. B., Fernández-Crehuet, P., Toi, Y., Mellerio, J., Rivera, J., Vicente, V., Kelsell, D. P., Nishimura, Y., Okuno, Y., Kojima, D. & 6 others, Ogawa, Y., Sugiura, K., Simpson, M. A., McLean, W. H. I., Akiyama, M. & McGrath, J. A., 31 Jul 2017, In : Journal of Investigative Dermatology. 137, 11, p. 2344-2353

    Research output: Contribution to journalArticle

  10. Tissue and circulating microRNA co-expression analysis reveals potential involvement of miRNAs in the pathobiology of frontal fibrosing alopecia

    Tziotzios, C., Ainali, C., Holmes, S., Cunningham, F., Lwin, S. M., Palamaras, I., Bhargava, K., Rymer, J., Stefanato, C., Kirkpatrick, N., Vano-Galvan, S., Petridis, C., Fenton, D. A., Simpson, M. A., Onoufriadis, A. & McGrath, J. A., 31 Jul 2017, In : Journal of Investigative Dermatology. 137, 11, p. 2440-2443

    Research output: Contribution to journalLetter

  11. Persistently Altered Metabolic Phenotype following Perinatal Excitotoxic Brain Injury

    Blaise, B. J., Schwendimann, L., Chhor, V., Degos, V., Hodson, M. P., Dallmann, G., Keller, M., Gressens, P. & Fleiss, B., Jul 2017, In : Developmental Neuroscience. 39, p. 182-191 10 p.

    Research output: Contribution to journalArticle

  12. Autoinflammatory keratinization diseases

    Akiyama, M., Takeichi, T., McGrath, J. A. & Sugiura, K., 28 Jun 2017, In : Journal of Allergy and Clinical Immunology. 3 p.

    Research output: Contribution to journalArticle

  13. PLACK syndrome resulting from a new homozygous insertion mutation in CAST

    Alkhalifah, A., Chiaverini, C., Del Giudice, P., Supsrisunjai, C., Hsu, C-K., Liu, L., Charlesworth, A., McGrath, J. A. & Lacour, J-P., 9 Jun 2017, In : Journal of Dermatological Science.

    Research output: Contribution to journalArticle

  14. Dual requirements for WNT10A in proliferation and KLF4-mediated differentiation underlie ectodermal dysplasia

    Zu, M., Horrell, J., Snitow, M., Cui, J., Gochnauer, H., Syrett, C. M., Kallish, S., Seykora, J. T., Liu, F., Gaillard, D., Katz, J. P., Kaestner, K. H., Levin, B., Mansfield, C., Douglas, J. E., Cowart, B. J., Tordoff, M., Liu, F., Zhu, X., Barlow, L. A. & 5 others, Rubin, A. I., McGrath, J. A., Morrisey, E. E., Chu, E. Y. & Millar, S. E., 7 Jun 2017, In : Nature Communications. 8

    Research output: Contribution to journalArticle

  15. A new clinical diagnostic matrix for epidermolysis bullosa

    McGrath, J. A., 5 Jun 2017, In : British Journal of Dermatology. 176, 6, p. 1442–1443 2 p.

    Research output: Contribution to journalArticle

  16. Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies"

    Passemard, S., Perez, F., Colin-Lemesre, E., Rasika, S., Gressens, P. & El Ghouzzi, V., Jun 2017, In : Progress in Neurobiology. 153, p. 46-63 18 p.

    Research output: Contribution to journalArticle

  17. Long-Term Neuropathological Changes Associated with Cerebral Palsy in a Nonhuman Primate Model of Hypoxic-Ischemic Encephalopathy

    McAdams, R. M., Fleiss, B., Traudt, C., Schwendimann, L., Snyder, J. M., Haynes, R. L., Natarajan, N., Gressens, P. & Juul, S. E., 10 May 2017, In : Developmental Neuroscience. 39, 1-4, p. 124-140

    Research output: Contribution to journalArticle

  18. Structure and function of skin, hair and nails

    Lai-Cheong, J. E. & McGrath, J. A., 5 May 2017, In : Medicine.

    Research output: Contribution to journalArticle

  19. Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3

    Hsu, C. K., Romano, M. T., Nanda, A., Rashidghamat, E., Lee, J. Y. W., Huang, H. Y., Songsantiphap, C., Lee, J. Y. Y., Al-Ajmi, H., Betz, R. C., Simpson, M. A., McGrath, J. A. & Tziotzios, C., 1 May 2017, In : Journal of Investigative Dermatology. 137, 5, p. 1176-1179 4 p.

    Research output: Contribution to journalArticle

  20. Dexmedetomidine Combined with Therapeutic Hypothermia Is Associated with Cardiovascular Instability and Neurotoxicity in a Piglet Model of Perinatal Asphyxia

    Ezzati, M., Kawano, G., Rocha-Ferreira, E., Alonso-Alconada, D., Hassell, J. K., Broad, K. D., Fierens, I., Fleiss, B., Bainbridge, A., Price, D. L., Kaynezhad, P., Anderson, B., Hristova, M., Tachtsidis, I., Golay, X., Gressens, P., Sanders, R. D. & Robertson, N. J., 8 Apr 2017, In : Developmental Neuroscience.

    Research output: Contribution to journalArticle

  21. Surgery increases cell death and induces changes in gene expression compared with anesthesia alone in the developing piglet brain

    Broad, K. D., Kawano, G., Fierens, I., Rocha-Ferreira, E., Hristova, M., Ezzati, M., Rostami, J., Alonso-Alconada, D., Chaban, B., Hassell, J., Fleiss, B., Gressens, P., Sanders, R. D. & Robertson, N. J., 29 Mar 2017, In : PLoS ONE. 12, 3, 15 p., e0173413.

    Research output: Contribution to journalArticle

  22. 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

  23. Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

    Lee, J. Y. W., Hsu, C. K., Michael, M., Nanda, A., Liu, L., McMillan, J. R., Pourreyron, C., Takeichi, T., Tolar, J., Reid, E., Hayday, T., Blumen, S. C., Abu-Mouch, S., Straussberg, R., Basel-Vanagaite, L., Barhum, Y., Zouabi, Y., Al-Ajmi, H., Huang, H. Y., Lin, T. C. & 6 others, Akiyama, M., Lee, J. Y. Y., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A., 2 Feb 2017, 2 ed. The American Journal of Human Genetics. 364 p.

    Research output: Book/ReportReport

  24. 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

  25. Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis by a homozygous deletion mutation in SDR9C7

    Takeichi, T., Nomura, T., Takama, H., Kono, M., Sugiura, K., Watanabe, D., Shimizu, H., Simpson, M. A., McGrath, J. A. & Akiyama, M., 23 Jan 2017, In : British Journal of Dermatology.

    Research output: Contribution to journalLetter

  26. Mutations in KLHL24 add to the molecular heterogeneity of epidermolysis bullosa simplex

    Lee, J. Y. W., Liu, L., Hsu, C-K., Aristodemou, S., Ozoemena, L., Ogboli, M., Moss, C., Martinez, A. E., Mellerio, J. E. & McGrath, J. A., 19 Jan 2017, In : Journal of Investigative Dermatology. 137, 6, p. 1378-1380

    Research output: Contribution to journalLetter

  27. Axl Mediates ZIKA Virus Entry in Human Glial Cells and Modulates Innate Immune Responses

    Meertens, L., Labeau, A., Dejarnac, O., Cipriani, S., Sinigaglia, L., Bonnet-Madin, L., Le Charpentier, T., Hafirassou, M. L., Zamborlini, A., Cao-Lormeau, V-M., Coulpier, M., Missé, D., Jouvenet, N., Tabibiazar, R., Gressens, P., Schwartz, O. & Amara, A., 10 Jan 2017, In : Cell Reports. 18, 2, p. 324-333 10 p.

    Research output: Contribution to journalArticle

  28. 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

  29. 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

  30. 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

  31. How to: Measuring blood cytokines in biological psychiatry using commercially available multiplex immunoassays

    Belzeaux, R., Lefebvre, M-N., Lazzari, A., Le Carpentier, T., Consoloni, J-L., Zendjidjian, X., Abbar, M., Courtet, P., Naudin, J., Boucraut, J., Gressens, P., Glaichenhaus, N. & Ibrahim, E. C., Jan 2017, In : Psychoneuroendocrinology. 75, p. 72-82 11 p.

    Research output: Contribution to journalArticle

  32. Neuroinflammation, myelin and behavior: Temporal patterns following mild traumatic brain injury in mice

    Taib, T., Leconte, C., Van Steenwinckel, J., Cho, A. H., Palmier, B., Torsello, E., Lai Kuen, R., Onyeomah, S., Ecomard, K., Benedetto, C., Coqueran, B., Novak, A-C., Deou, E., Plotkine, M., Gressens, P., Marchand-Leroux, C. & Besson, V. C., 2017, In : PLoS ONE. 12, 9, p. e0184811

    Research output: Contribution to journalArticle

  33. 2016
  34. Temporal Characterization of Microglia/Macrophage Phenotypes in a Mouse Model of Neonatal Hypoxic-Ischemic Brain Injury

    Hellström Erkenstam, N., Smith, P. L. P., Fleiss, B., Nair, S., Svedin, P., Wang, W., Boström, M., Gressens, P., Hagberg, H., Brown, K. L., Sävman, K. & Mallard, C., 15 Dec 2016, In : Frontiers in cellular neuroscience. 10, p. 286

    Research output: Contribution to journalArticle

  35. Pro-epileptogenic effects of viral-like inflammation in both mature and immature brains

    Dupuis, N., Mazarati, A., Desnous, B., Chhor, V., Fleiss, B., Le Charpentier, T., Lebon, S., Csaba, Z., Gressens, P., Dournaud, P. & Auvin, S., 12 Dec 2016, In : Journal of neuroinflammation. 13, 1, p. 307

    Research output: Contribution to journalArticle

  36. Transcriptomic regulations in oligodendroglial and microglial cells related to brain damage following fetal growth restriction

    Rideau Batista Novais, A., Pham, H., Van de Looij, Y., Bernal, M., Mairesse, J., Zana-Taieb, E., Colella, M., Jarreau, P-H., Pansiot, J., Dumont, F., Sizonenko, S., Gressens, P., Charriaut-Marlangue, C., Tanter, M., Demene, C., Vaiman, D. & Baud, O., Dec 2016, In : Glia. 64, 12, p. 2306-2320 15 p.

    Research output: Contribution to journalArticle

  37. Isoflurane Exposure Induces Cell Death, Microglial Activation and Modifies the Expression of Genes Supporting Neurodevelopment and Cognitive Function in the Male Newborn Piglet Brain

    Broad, K. D., Hassell, J., Fleiss, B., Kawano, G., Ezzati, M., Rocha-Ferreira, E., Hristova, M., Bennett, K., Fierens, I., Burnett, R., Chaban, B., Alonso-Alconada, D., Oliver-Taylor, A., Tachsidis, I., Rostami, J., Gressens, P., Sanders, R. D. & Robertson, N. J., 29 Nov 2016, In : PLoS ONE. 11, 11, p. e0166784

    Research output: Contribution to journalArticle

  38. Role of microglia in a mouse model of paediatric traumatic brain injury

    Chhor, V., Moretti, R., Le Charpentier, T., Sigaut, S., Lebon, S., Schwendimann, L., Oré, M-V., Zuiani, C., Milan, V., Josserand, J., Vontell, R., Pansiot, J., Degos, V., Ikonomidou, C., Titomanlio, L., Hagberg, H., Gressens, P. & Fleiss, B., 4 Nov 2016, In : Brain, Behavior, and Immunity.

    Research output: Contribution to journalArticle

  39. Kindlin-1 Regulates Keratinocyte Electrotaxis

    Zhang, G., Gu, Y., Begum, R., Chen, H., Gao, X., McGrath, J. A., Parsons, M. & Song, B., 1 Nov 2016, In : Journal of Investigative Dermatology. 136, 11, p. 2229-2239 11 p.

    Research output: Contribution to journalArticle

  40. ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

    Ghouzzi, V. E., Bianchi, F. T., Molineris, I., Mounce, B. C., Berto, G. E., Rak, M., Lebon, S., Aubry, L., Tocco, C., Gai, M., Chiotto, A. M., Sgrò, F., Pallavicini, G., Simon-Loriere, E., Passemard, S., Vignuzzi, M., Gressens, P. & Di Cunto, F., 27 Oct 2016, In : Cell Death & Disease. 7, 10, e2440.

    Research output: Contribution to journalArticle

  41. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

    Takeichi, T., Liu, L., Abdul-Wahab, A., McMillan, J. R., Stone, K. L., Akiyama, M., Simpson, M. A., Parsons, M., Mellerio, J. E. & McGrath, J. A., 1 Oct 2016, In : Journal of Investigative Dermatology. 136, 10, p. 2095-2098 4 p.

    Research output: Contribution to journalArticle

  42. 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

  43. Contribution of mast cells to injury mechanisms in a mouse model of pediatric traumatic brain injury

    Moretti, R., Chhor, V., Bettati, D., Banino, E., De Lucia, S., Le Charpentier, T., Lebon, S., Schwendimann, L., Pansiot, J., Rasika, S., Degos, V., Titomanlio, L., Gressens, P. & Fleiss, B., 10 Sep 2016, In : Journal of Neuroscience Research.

    Research output: Contribution to journalArticle

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

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