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Research Outputs

  1. 2019
  2. Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

    Tziotzios, C., Petridis, C., Dand, N., Ainali, C., Saklatvala, J. R., Pullabhatla, V., Onoufriadis, A., Pramanik, R., Baudry, D., Lee, S. H., Wood, K., Liu, L., Seegobin, S., Michelotti, G. A., Lwin, S. M., Christou, E. A. A., Curtis, C. J., de Rinaldis, E., Saxena, A., Holmes, S. & 54 othersHarries, M., Palamaras, I., Cunningham, F., Parkins, G., Kaur, M., Farrant, P., McDonagh, A., Messenger, A., Jones, J., Jolliffe, V., Ali, I., Ardern-Jones, M., Mitchell, C., Burrows, N., Atkar, R., Banfield, C., Alexandroff, A., Champagne, C., Cooper, H. L., Vañó-Galván, S., Molina-Ruiz, A. M., Perez, N. O., Patel, G. K., Macbeth, A., Page, M., Bryden, A., Mowbray, M., Wahie, S., Armstrong, K., Cooke, N., Goodfield, M., Man, I., de Berker, D., Dunnill, G., Takwale, A., Rao, A., Siah, T-W., Sinclair, R., Wade, M. S., Dlova, N. C., Setterfield, J., Lewis, F., Bhargava, K., Kirkpatrick, N., Estivill, X., Stefanato, C. M., Flohr, C., Spector, T., Watt, F. M., Smith, C. H., Barker, J. N., Fenton, D. A., Simpson, M. A. & McGrath, J. A., 8 Mar 2019, In : Nature Communications. 10, 1, p. 1150

    Research output: Contribution to journalArticle

  3. An essential role for the Zn 2+ transporter ZIP7 in B cell development

    Anzilotti, C., Swan, D. J., Boisson, B., Deobagkar-Lele, M., Oliveira, C., Chabosseau, P., Engelhardt, K. R., Xu, X., Chen, R., Alvarez, L., Berlinguer-Palmini, R., Bull, K. R., Cawthorne, E., Cribbs, A. P., Crockford, T. L., Dang, T. S., Fearn, A., Fenech, E. J., de Jong, S. J., Lagerholm, B. C. & 25 othersMa, C. S., Sims, D., van den Berg, B., Xu, Y., Cant, A. J., Kleiner, G., Leahy, T. R., de la Morena, M. T., Puck, J. M., Shapiro, R. S., van der Burg, M., Chapman, J. R., Christianson, J. C., Davies, B., McGrath, J. A., Przyborski, S., Santibanez Koref, M., Tangye, S. G., Werner, A., Rutter, G. A., Padilla-Parra, S., Casanova, J. L., Cornall, R. J., Conley, M. E. & Hambleton, S., 1 Mar 2019, In : Nature Immunology. 20, 3, p. 350-361 12 p.

    Research output: Contribution to journalArticle

  4. Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1)

    Onoufriadis, A., Nanda, A., Sheriff, A., Tomita, K., Gomaa, N. S., Simpson, M. A. & McGrath, J. A., 1 Feb 2019, In : JAMA dermatology. 155, 2, p. 257-259 3 p.

    Research output: Contribution to journalLetter

  5. Genetic analysis in Egyptian patients with Chediak–Higashi syndrome reveals new LYST mutations

    Gomaa, N. S., Lee, J. Y. W., El Sharkawy, A., El Chazli, Y. F., Hassab, H. M. A., Doghaim, N. N., McGrath, J. A. & Onoufriadis, A., 1 Jan 2019, In : Clinical and Experimental Dermatology.

    Research output: Contribution to journalArticle

  6. 2018
  7. Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne

    The Acne Genetic Study Group, Petridis, C., Navarini, A. A., Dand, N., Saklatvala, J., Baudry, D., Duckworth, M., Allen, M. H., Curtis, C. J., Lee, S. H., Burden, A. D., Layton, A., Bataille, V., Pink, A. E., Alexandroff, A., Anstey, A., Azad, J., Aziz, O., Burrows, N., Butt, A. & 38 othersCartwright, P., Chapman, A., Clayton, T. H., Cliff, S., Cutler, T., Daly, B., Darvay, A., DeGiovanni, C., Downs, A., Dwyer, C., English, J., Ferguson, A., Fleming, C., Fraser-Andrews, E., Goodfield, M., Grattan, C. E., Hempel, H., Hood, S., Hughes, B., Ladoyanni, E., Lyon, C., Mahmud, A., Malik, M., Mallon, E., Meggitt, S., Messenger, A., Moosa, Y., Munn, S., Ormerod, A., Rallan, D., Ross, J., McGrath, J. A., Barker, J. N. W. N., Smith, C. H., Spector, T. D., Smith, C. H., Barker, J. N. & Simpson, M. A., 12 Dec 2018, In : Nature Communications. 9, 1, 5075.

    Research output: Contribution to journalArticle

  8. 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 othersUitto, J., 18 Nov 2018, In : Matrix Biology.

    Research output: Contribution to journalArticle

  9. 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

  10. Kindlin-1 regulates epidermal growth factor receptor signalling

    Michael, M., Begum, R., Chan, G. K., Whitewood, A. J., Matthews, D. R., Goult, B. T., McGrath, J. A. & Parsons, M., 21 Sep 2018, In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  11. 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 othersFuentes, 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

  12. Efficacy of human placental-derived stem cells in collagen VII knockout (Recessive dystrophic epidermolysis bullosa) animal model

    Liao, Y., Ivanova, L., Sivalenka, R., Plumer, T., Zhu, H., Zhang, X., Christiano, A. M., McGrath, J. A., Gurney, J. P. & Cairo, M. S., 19 Jul 2018, In : Stem cells translational medicine. 7, 7, p. 530-542 13 p.

    Research output: Contribution to journalArticle

  13. 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

  14. 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

  15. 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 othersSprecher, E., May 2018, In : Journal of Investigative Dermatology. 138, 5, Supplement, p. S48

    Research output: Contribution to journalMeeting Abstract

  16. 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

  17. 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

  18. 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

  19. 2017
  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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 othersOgawa, 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

  26. 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

  27. 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

  28. 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

  29. 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 othersRubin, 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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 othersAkiyama, 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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 othersMcGrath, J. & Akiyama, M., 1 Jan 2017, In : JAMA dermatology. 153, 1, p. 66-70 5 p.

    Research output: Contribution to journalArticle

  40. 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

  41. 2016
  42. 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

  43. 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

  44. 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 othersLane, 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

  45. 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

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