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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. 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. 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

  7. 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

  8. 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

  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. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 2016
  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 2015
  48. 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

  49. 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

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