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  1. 2017
  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. Amlexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa

    Atanasova, V. S., Jiang, Q., Prisco, M., Gruber, C., Piñón Hofbauer, J., Chen, M., Has, C., Bruckner-Tuderman, L., McGrath, J. A., Uitto, J. & South, A. P. 24 May 2017 In : Journal of Investigative Dermatology. 137, 9, p. 1842–1849

    Research output: Contribution to journalArticle

  12. 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

  13. 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

  14. 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 journalArticle

  15. 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

  16. 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 In : American Journal of Human Genetics. 100, 2, p. 364-370 7 p.

    Research output: Contribution to journalArticle

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

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

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

    Research output: Contribution to journalArticle

  23. 2016
  24. 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

  25. 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

  26. Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

    Zhong, F. L. , 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, P. J. , Jones, L. A. , Baker, P. , Lacina, L. , Otsuka, A. , Fournie, P. R. , Malecaze, F. & 14 others Lane, E. B., Akiyama, M., Kabashima, K., Connolly, J. E., Masters, S. L., Soler, V. J., Omar, S. S., 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

  27. 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

  28. 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

  29. 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. & Mcgrath, J. 1 Jul 2016 In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 2015
  41. 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

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

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