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  1. 2018
  2. Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency

    Vahidnezhad, H. , Youssefian, L. , Saeidian, A. H. , Touati, A. , Pajouhanfar, S. , Baghdadi, T. , Shadmehri, A. A. , Giunta, C. , Kraenzlin, M. , Syx, D. , Malfait, F. , Has, C. , Lwin, S. M. , Karamzadeh, R. , Liu, L. , Guy, A. , Hamid, M. , Kariminejad, A. , Zeinali, S. , McGrath, J. A. & 1 others Uitto, J. 18 Nov 2018 In : Matrix Biology.

    Research output: Contribution to journalArticle

  3. Cord Blood-Derived Stem Cells Suppress Fibrosis and May Prevent Malignant Progression in Recessive Dystrophic Epidermolysis Bullosa

    Liao, Y., Ivanova, L., Zhu, H., Plumer, T., Hamby, C., Mehta, B., Gevertz, A., Christiano, A. M., McGrath, J. A. & Cairo, M. S. 24 Sep 2018 In : Stem Cells.

    Research output: Contribution to journalArticle

  4. APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

    Cho, R. J. , Alexandrov, L. B. , Den Breems, N. Y. , Atanasova, V. S. , Farshchian, M. , Purdom, E. , Nguyen, T. N. , Coarfa, C. , Rajapakshe, K. , Prisco, M. , Sahu, J. , Tassone, P. , Greenawalt, E. J. , Collisson, E. A. , Wu, W. , Yao, H. , Su, X. , Guttmann-Gruber, C. , Hofbauer, J. P. , Hashmi, R. & 24 others Fuentes, I., Benz, S. C., Golovato, J., Ehli, E. A., Davis, C. M., Davies, G. E., Covington, K. R., Murrell, D. F., Salas-Alanis, J. C., Palisson, F., Bruckner, A. L., Robinson, W., Has, C., Bruckner-Tuderman, L., Titeux, M., Jonkman, M. F., Rashidghamat, E., Lwin, S. M., Mellerio, J. E., McGrath, J. A., Bauer, J. W., Hovnanian, A., Tsai, K. Y. & South, A. P. 22 Aug 2018 In : Science Translational Medicine. 10, 455, eaas9668

    Research output: Contribution to journalArticle

  5. Time series integrative analysis of RNA-Seq and miRNA expression data reveals key biologic wound healing pathways in keloid-prone individuals

    Onoufriadis, A., Hsu, C-K., Ainali, C., Ying Ung, C., Rashidghamat, E., Yang, H-S., Huang, H-Y., Niazi, U., Tziotzios, C., Yang, J-C., Nuamah, R., Tang, M-J., Saxena, A., de Rinaldis, E. & McGrath, J. A. 2 Jun 2018 In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  6. Montagna Symposium 2017—Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment

    Tolar, J., Bauer, J. W., Kaplan, D. H., Leachman, S. A., McGrath, J. A., Paller, A. S., Griffith-Bauer, K. A., Stemwedel, C. E. & Kulesz-Martin, M. F. 2 May 2018 In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  7. 283 Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern population: International Investigative Dermatology (IID) 2018 Meeting Abstract SupplementInternational Investigative Dermatology (IID) 2018

    Mohamad, J. , Samuelov, L. , Malchin, N. , Tiaber, S. , Rabinowitz, T. , Bitterman-Deutsch, O. , Molho-Pessach, V. , Cohen-Barak, E. , Bach, G. , Garty, B. , Bergman, R. , Harel, A. , Nanda, A. , Lestringant, G. , McGrath, J. , Shalev, S. , Shomron, N. , Mashiach, J. , Eskin-Schwartz, M. , Sarig, O. & 1 others Sprecher, E. May 2018 In : Journal of Investigative Dermatology. 138, 5, Supplement, p. S48

    Research output: Contribution to journalMeeting Abstract

  8. Concurrent hidradenitis suppurativa and Dowling–Degos disease taken down a ‘Notch’

    McGrath, J. A. 1 Feb 2018 In : British Journal of Dermatology. 178, 2, 1 p.

    Research output: Contribution to journalComment/debate

  9. Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility

    Lee, J. Y. W., Farag, A., Tawdy, A., Liu, L., Michael, M., Rashidghamat, E., Aristodemou, S., Hsu, C. K., Simpson, M. A., Parsons, M. & McGrath, J. A. Feb 2018 In : Journal of Dermatological Science. 89, 2, p. 198-201

    Research output: Contribution to journalLetter

  10. EB2017 - Progress in Epidermolysis Bullosa Research Towards Treatment and Cure

    Uitto, J., Bruckner-Tuderman, L., McGrath, J. A., Riedl, R. & Robinson, C. 31 Jan 2018 In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  11. 2017
  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 2016
  34. 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. 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

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