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Research Outputs

  1. 2022
  2. Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies

    Lin, Y. C., Tu, W. T., Hou, P. C., Huang, H. Y., Chen, P. C., Chang, C. H., Lee, J. Y. Y., McGrath, J. A. & Hsu, C. K., Aug 2022, In: Journal of Dermatology. 49, 8, p. e283-e284

    Research output: Contribution to journalLetterpeer-review

  3. Collagen VII maintains proteostasis in dermal fibroblasts by scaffolding TANGO1 cargo

    Cao, Q., Tartaglia, G., Alexander, M., Park, P. H., Poojan, S., Farshchian, M., Fuentes, I., Chen, M., McGrath, J. A., Palisson, F., Salas-Alanis, J. & South, A. P., Aug 2022, In: Matrix Biology. 111, p. 226-244 19 p.

    Research output: Contribution to journalArticlepeer-review

  4. Plasma metabolomic profiling reflects the malnourished and chronic inflammatory state in recessive dystrophic epidermolysis bullosa

    Chen, Y. F., Lu, H. C., Hou, P. C., Lin, Y. C., Aala, W., Onoufriadis, A., McGrath, J. A., Chen, Y. L. & Hsu, C. K., Aug 2022, In: Journal of Dermatological Science. 107, 2, p. 82-88 7 p.

    Research output: Contribution to journalArticlepeer-review

  5. Incontinentia pigmenti in a male infant and a proposed diagnostic algorithm

    Yang, M. C., Lin, Y. C., Huang, C. H., Ko, T. M., Tsai, M. C., Kuo, P. L., Lee, J. Y. Y., McGrath, J. A. & Hsu, C. K., Jul 2022, In: Clinical and Experimental Dermatology. 47, 7, p. 1366-1368 3 p.

    Research output: Contribution to journalLetterpeer-review

  6. Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

    Genomics England Research Consortium, 22 Jun 2022, In: Human Molecular Genetics. 31, 12, p. 1970-1978 9 p.

    Research output: Contribution to journalArticlepeer-review

  7. Restoring type VII collagen in skin

    Lwin, S. M. & McGrath, J. A., 13 May 2022, In: Med. 3, 5, p. 273-275 3 p.

    Research output: Contribution to journalComment/debatepeer-review

  8. A clinician's guide to omics resources in dermatology

    Doolan, B. J., McGrath, J. A. & Onoufriadis, A., May 2022, In: Clinical and Experimental Dermatology. 47, 5, p. 858-866 9 p.

    Research output: Contribution to journalReview articlepeer-review

  9. Single-cell transcriptomics in human skin research: available technologies, technical considerations and disease applications

    Theocharidis, G., Tekkela, S., Veves, A., McGrath, J. A. & Onoufriadis, A., May 2022, In: Experimental Dermatology. 31, 5, p. 655-673 19 p.

    Research output: Contribution to journalReview articlepeer-review

  10. The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database

    Petrof, G., Papanikolaou, M., Martinez, A. E., Mellerio, J. E., McGrath, J. A., Bardhan, A., Harper, N., Heagerty, A., Ogboli, M., Chiswell, C. & Moss, C., May 2022, In: British Journal of Dermatology. 186, 5, p. 843-848 6 p.

    Research output: Contribution to journalArticlepeer-review

  11. Transcriptomic response of peripheral blood mononuclear cells to secukinumab in an 8-year-old boy with juvenile generalized pustular psoriasis

    Hou, P. C., Aala, W., Lee, Y. R., Guevara, B. E. K., Chen, P. C., McGrath, J. A. & Hsu, C. K., May 2022, In: Journal of the European Academy of Dermatology and Venereology. 36, 5, p. e378-e381

    Research output: Contribution to journalLetterpeer-review

  12. WNT10A variant and severe scoliosis?

    Kantaputra, P., Olsen, B. & McGrath, J. A., May 2022, In: Journal of Dermatology. 49, 5, p. e183-e184

    Research output: Contribution to journalLetterpeer-review

  13. The Past and Future of Rare Skin Disease Research and Therapy

    Onoufriadis, A. & Mcgrath, J. A., Apr 2022, In: Journal of Investigative Dermatology. 142, 4, p. 1010-1014 5 p.

    Research output: Contribution to journalShort surveypeer-review

  14. Transcriptomic Analysis of Blaschko-Linear Psoriasis Reveals Shared and Distinct Features with Psoriasis Vulgaris

    Onoufriadis, A., Niazi, U., Dimitrakopoulou, K., Reich, J., Ainali, C., Papanikolaou, M., Kesidou, E., Hsu, C. K., Saqi, M., McGrath, J. A. & Reich, K., Feb 2022, In: Journal of Investigative Dermatology. 142, 2, p. 489-493 5 p.

    Research output: Contribution to journalArticlepeer-review

  15. Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

    Takeichi, T., Lee, J. Y. W., Okuno, Y., Miyasaka, Y., Murase, Y., Yoshikawa, T., Tanahashi, K., Nishida, E., Okamoto, T., Ito, K., Muro, Y., Sugiura, K., Ohno, T., McGrath, J. A. & Akiyama, M., 3 Jan 2022, In: Frontiers in Immunology. 12, 737747.

    Research output: Contribution to journalArticlepeer-review

  16. Clinical characteristics of male frontal fibrosing alopecia: a single-centre case series from London, UK

    Rayinda, T., McSweeney, S. M., Dand, N., Fenton, D. A., McGrath, J. A. & Tziotzios, C., Jan 2022, In: British Journal of Dermatology. 186, 1, p. 195-197 3 p.

    Research output: Contribution to journalLetterpeer-review

  17. Metabolic syndrome and comorbidities in patients with psoriasis: a community-based case-control study from the Nagahama cohort in Japan

    Endo, Y., Tabara, Y., Kawaguchi, T., Onoufriadis, A., McGrath, J. A., Matsuda, F. & Kabashima, K., Jan 2022, In: European journal of dermatology : EJD. 32, 1, p. 86-93 8 p.

    Research output: Contribution to journalArticlepeer-review

  18. P63 targeted deletion under the FOXN1 promoter disrupts pre-and post-natal thymus development, function and maintenance as well as induces severe hair loss

    Stefanski, H. E., Xing, Y., Nicholls, J., Jonart, L., Goren, E., Taylor, P. A., Mills, A. A., Riddle, M., McGrath, J., Tolar, J., Hollander, G. A. & Blazar, B. R., Jan 2022, In: PLoS ONE. 17, 1 1, e0261770.

    Research output: Contribution to journalArticlepeer-review

  19. 2021
  20. Current topics in Epidermolysis bullosa: Pathophysiology and therapeutic challenges

    Natsuga, K., Shinkuma, S., Hsu, C. K., Fujita, Y., Ishiko, A., Tamai, K. & McGrath, J. A., Dec 2021, In: Journal of Dermatological Science. 104, 3, p. 164-176 13 p.

    Research output: Contribution to journalArticlepeer-review

  21. WNT10A, dermatology and dentistry

    Doolan, B. J., Onoufriadis, A., Kantaputra, P. & McGrath, J. A., Dec 2021, In: British Journal of Dermatology. 185, 6, p. 1105-1111 7 p.

    Research output: Contribution to journalReview articlepeer-review

  22. Clinical trial of ABCB5+mesenchymal stem cells for recessive dystrophic epidermolysis bullosa

    Kiritsi, D., Dieter, K., Niebergall-Roth, E., Fluhr, S., Daniele, C., Esterlechner, J., Sadeghi, S., Ballikaya, S., Erdinger, L., Schauer, F., Gewert, S., Laimer, M., Bauer, J. W., Hovnanian, A., Zambruno, G., El Hachem, M., Bourrat, E., Papanikolaou, M., Petrof, G., Kitzmüller, S., & 8 othersEbens, C. L., Frank, M. H., Frank, N. Y., Ganss, C., Martinez, A. E., McGrath, J. A., Tolar, J. & Kluth, M. A., 22 Nov 2021, In: JCI Insight. 6, 22, e151922.

    Research output: Contribution to journalArticlepeer-review

  23. Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

    Warshauer, E. M., Brown, A., Fuentes, I., Shortt, J., Gignoux, C., Montinaro, F., Metspalu, M., Youssefian, L., Vahidnezhad, H., Jacków, J., Christiano, A. M., Uitto, J., Fajardo-Ramírez, Ó. R., Salas-Alanis, J. C., McGrath, J. A., Consuegra, L., Rivera, C., Maier, P. A., Runfeldt, G., Behar, D. M., & 8 othersSkorecki, K., Sprecher, E., Palisson, F., Norris, D. A., Bruckner, A. L., Kogut, I., Bilousova, G. & Roop, D. R., Nov 2021, In: American Journal of Medical Genetics, Part A. 185, 11, p. 3390-3400 11 p.

    Research output: Contribution to journalArticlepeer-review

  24. Investigational Treatments for Epidermolysis Bullosa

    Hou, P. C., Wang, H. T., Abhee, S., Tu, W. T., McGrath, J. A. & Hsu, C. K., Nov 2021, In: American Journal of Clinical Dermatology. 22, 6, p. 801-817 17 p.

    Research output: Contribution to journalReview articlepeer-review

  25. Plasma metabolomic and lipidomic profiling highlights metabolic changes in keloid-prone individuals

    Onoufriadis, A., Hsu, C. K., Hong, Y. K., Lin, Y. C. & McGrath, J. A., Nov 2021, (E-pub ahead of print) In: Experimental Dermatology. 31, 3

    Research output: Contribution to journalLetterpeer-review

  26. α4/α9 integrins coordinate epithelial cell migration through local suppression of MAP kinase signaling pathways

    Parsons, M., Hight-Warburton, W., Felix, R., Burton, A., Maple, H., Chegkazi, M., Steiner, R. & McGrath, J., 31 Oct 2021, (Accepted/In press) In: Frontiers in Cell and Developmental Biology.

    Research output: Contribution to journalArticlepeer-review

  27. Transcriptomic profiling of recessive dystrophic epidermolysis bullosa wounded skin highlights drug repurposing opportunities to improve wound healing

    Onoufriadis, A., Proudfoot, L. E., Ainali, C., Torre, D., Papanikolaou, M., Rayinda, T., Rashidghamat, E., Danarti, R., Mellerio, J. E., Ma’ayan, A. & McGrath, J. A., 25 Oct 2021, (E-pub ahead of print) In: Experimental Dermatology.

    Research output: Contribution to journalArticlepeer-review

  28. Metabolic perturbations in fibrosis disease

    Ung, C. Y., Onoufriadis, A., Parsons, M., McGrath, J. & Shaw, T., Oct 2021, In: International Journal of Biochemistry and Cell Biology. 139, 106073.

    Research output: Contribution to journalReview articlepeer-review

  29. SERPINA1, generalized pustular psoriasis, and adult-onset immunodeficiency

    Kantaputra, P., Chaowattanapanit, S., Kiratikanon, S., Chaiwarith, R., Choonhakarn, C., Intachai, W., Quarto, N., Tongsima, S., Ketudat Cairns, J. R., Ngamphiw, C., McGrath, J. A. & Chuamanochan, M., Oct 2021, In: Journal of Dermatology. 48, 10, p. 1597-1601 5 p.

    Research output: Contribution to journalArticlepeer-review

  30. The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review

    Prodinger, C., Chottianchaiwat, S., Mellerio, J. E., McGrath, J. A., Ozoemena, L., Liu, L., Moore, W., Laimer, M., Petrof, G. & Martinez, A. E., 1 Sep 2021, In: Pediatric Dermatology. 38, 5, p. 1094-1101 8 p.

    Research output: Contribution to journalArticlepeer-review

  31. Spatial activation of ezrin by epidermal growth factor receptor and focal adhesion kinase co-ordinates epithelial cell migration

    Chan, G. K., McGrath, J. & Parsons, M., 11 Aug 2021, In: Open Biology. 11, 8, p. 210166 1 p., 210166.

    Research output: Contribution to journalArticlepeer-review

  32. A truncating variant in SERPINA3, skin pustules and adult-onset immunodeficiency

    Kantaputra, P. N., Chuamanochan, M., Kiratikanon, S., Chiewchanvit, S., Chaiwarith, R., Intachai, W., Quarto, N., Tongsima, S., McGrath, J. A. & Ngamphiw, C., Aug 2021, In: Journal of Dermatology. 48, 8, p. e370-e371

    Research output: Contribution to journalLetterpeer-review

  33. Complexity of transcriptional and translational interference of laminin-332 subunits in junctional epidermolysis bullosa with lamb3 mutations

    Hou, P. C., Natsuga, K., Tu, W. T., Huang, H. Y., Chen, B., Chen, L. Y., Chen, W. R., Hong, Y. K., Tang, Y. A., Lee, J. Y. Y., Chen, P. C., Sun, H. S., McGrath, J. A. & Hsu, C. K., Aug 2021, In: Acta Dermato-Venereologica. 101, 8, adv00522.

    Research output: Contribution to journalComment/debatepeer-review

  34. Cutaneous squamous cell carcinoma in epidermolysis bullosa: A 28-year retrospective study

    Robertson, S. J., Orrin, E., Lakhan, M. K., O’sullivan, G., Felton, J., Robson, A., Greenblatt, D. T., Bernardis, C., McGrath, J. A., Martinez, A. E. & Mellerio, J. E., Aug 2021, In: Acta Dermato-Venereologica. 101, 8, adv00523.

    Research output: Contribution to journalArticlepeer-review

  35. Induced pluripotent stem cell (iPSC) line MLi-004A derived from a patient with recessive dystrophic epidermolysis bullosa (RDEB)

    Ropret, S., Jeriha, J., Sorčan, T., Rogar, M., Zemljič Jokhadar, Š., McGrath, J. A., Ilic, D. & Liovic, M., Aug 2021, In: Stem Cell Research. 55, 102463.

    Research output: Contribution to journalArticlepeer-review

  36. Synergistic multiple early therapy (SMET) for inflammatory diseases with pathogenic autoinflammatory feedback circuits

    McFadden, J. P., Cunningham, L. S., Ferguson, F. J., Tziotzios, C. & McGrath, J. A., Aug 2021, In: British Journal of Dermatology. 185, 2, p. 469-470 2 p.

    Research output: Contribution to journalLetterpeer-review

  37. Structure and function of skin, hair and nails

    Lai-Cheong, J. E. & McGrath, J. A., Jun 2021, In: Medicine (United Kingdom). 49, 6, p. 337-342 6 p.

    Research output: Contribution to journalReview articlepeer-review

  38. Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation

    Vahidnezhad, H., Youssefian, L., Saeidian, A. H., Boyden, L. M., Touati, A., Harvey, N., Naji, M., Zabihi, M., Barzegar, M., Sotoudeh, S., Liu, L., Guy, A., Kariminejad, A., Zeinali, S., Choate, K. A., McGrath, J. A. & Uitto, J., May 2021, In: Matrix Biology. 99, p. 43-57 15 p.

    Research output: Contribution to journalArticlepeer-review

  39. A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

    Hou, P. C., Tu, W. T., Chen, P. C., Guevara, B. E. K., Yen, Y. F., Huang, H. Y., Lee, J. Y. Y., Tang, M. J., Kuo, P. L., Mcgrath, J. A. & Hsu, C. K., 1 Apr 2021, In: European journal of dermatology : EJD. 31, 2, p. 267-269 3 p.

    Research output: Contribution to journalLetterpeer-review

  40. Nanomedicine Approaches to Negotiate Local Biobarriers for Topical Drug Delivery

    Mustfa, S. A., Maurizi, E., McGrath, J. & Chiappini, C., Jan 2021, In: Advanced Therapeutics. 4, 1, 2000160.

    Research output: Contribution to journalReview articlepeer-review

  41. The potential of gene therapy for recessive dystrophic epidermolysis bullosa

    Subramaniam, K. S., Antoniou, M. N., McGrath, J. A. & Lwin, S. M., 2021, (Accepted/In press) In: British Journal of Dermatology.

    Research output: Contribution to journalReview articlepeer-review

  42. 2020
  43. PLACK syndrome: the penny dropped

    O'Sullivan, S., Ozoemena, L., Liu, L., McGrath, J. A., Mellerio, J. E. & Martinez, A. E., 1 Dec 2020, In: Clinical and Experimental Dermatology. 45, 8, p. 1091-1092 2 p.

    Research output: Contribution to journalArticlepeer-review

  44. Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

    Vahidnezhad, H., Youssefian, L., Faghankhani, M., Mozafari, N., Saeidian, A. H., Niaziorimi, F., Abdollahimajd, F., Sotoudeh, S., Rajabi, F., Mirsafaei, L., Sani, Z. A., Liu, L., Guy, A., Zeinali, S., Kariminejad, A., Ho, R. T., McGrath, J. A. & Uitto, J., Dec 2020, In: Scientific Reports. 10, 1, 21622.

    Research output: Contribution to journalArticlepeer-review

  45. Frontal fibrosing alopecia: a descriptive cross-sectional study of 711 cases in female patients from the UK

    McSweeney, S. M., Christou, E. A. A., Dand, N., Boalch, A., Holmes, S., Harries, 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., & 25 othersBanfield, C., Alexandroff, A., Champagne, C., Cooper, H. L., Patel, G. K., Macbeth, A., Page, M., Bryden, A., Mowbray, M., Wahie, S., Armstrong, K., Cooke, N., Goodfield, M., Man, I., de Berker, D., Dunnil, G., Takwale, A., Rao, A., Siah, T. W., Sinclair, R., Wade, M. S., Bhargava, K., Fenton, D. A., McGrath, J. A. & Tziotzios, C., Dec 2020, In: British Journal of Dermatology. 183, 6, p. 1136-1138 3 p.

    Research output: Contribution to journalLetterpeer-review

  46. Blaschko-linear lichen planus: Clinicopathological and genetic analysis

    Chuamanochan, M., Onoufriadis, A., Farnood, S., Hsu, C. K., Simpson, M. A., Mahanupab, P., Tovanabutra, N., Chiewchanvit, S. & McGrath, J. A., 1 Nov 2020, In: Journal of Dermatology. 47, p. e384-e385

    Research output: Contribution to journalLetterpeer-review

  47. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

    Has, C., Bauer, J. W., Bodemer, C., Bolling, M. C., Bruckner-Tuderman, L., Diem, A., Fine, J. D., Heagerty, A., Hovnanian, A., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., Moss, C., Murrell, D. F., Palisson, F., Schwieger-Briel, A., Sprecher, E., Tamai, K., Uitto, J., Woodley, D. T., & 2 othersZambruno, G. & Mellerio, J. E., 1 Oct 2020, In: British Journal of Dermatology. 183, 4, p. 614-627 14 p.

    Research output: Contribution to journalReview articlepeer-review

  48. ESDR and the European Dermatology Forum: ESDR's Baby Big Brother

    Pincelli, C. & McGrath, J. A., Sep 2020, In: Journal of Investigative Dermatology. 140, 9, p. S181-S182

    Research output: Contribution to journalComment/debatepeer-review

  49. Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

    Abd Elmaksoud, M. S., Gomaa, N. S., Azouz, H. G., On, C. N. V., Ho, C. T., Omar, T. E., McGrath, J. A. & Onoufriadis, A., 1 Aug 2020, In: Clinical and Experimental Dermatology. 45, 6, p. 789-792 4 p.

    Research output: Contribution to journalComment/debatepeer-review

  50. Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome

    Chiu, F. P. C., Salas-Alanis, J. C., Amaya-Guerra, M., Cepeda-Valdes, R., McGrath, J. A. & Hsu, C. K., 1 Aug 2020, In: Clinical and Experimental Dermatology. 45, 6, p. 796-798 3 p.

    Research output: Contribution to journalComment/debatepeer-review

  51. Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis

    Mohamad, J., Nanda, A., Pavlovsky, M., Peled, A., Malchin, N., Malovitski, K., Pramanik, R., Weissglas-Volkov, D., Shomron, N., McGrath, J., Sprecher, E. & Sarig, O., 1 Aug 2020, In: Experimental Dermatology. 29, 8, p. 742-748 7 p.

    Research output: Contribution to journalArticlepeer-review

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