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  1. 2017
  2. Nox4 reprograms cardiac substrate metabolism via protein O-GlcNAcylation to enhance stress adaptation

    Nabeebaccus, A. A., Zoccarato, A., Hafstad, A. D., Santos, C. X., Aasum, E., Brewer, A. C., Zhang, M., Beretta, M., Yin, X., West, J. A., Schröder, K., Griffin, J. L., Eykyn, T. R., Abel, E. D., Mayr, M. & Shah, A. M., 21 Dec 2017, In : JCI Insight. 2, 24

    Research output: Contribution to journalArticle

  3. 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

  4. 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

  5. Metabolically Activated Adipose Tissue Macrophages Perform Detrimental and Beneficial Functions during Diet-Induced Obesity

    Coats, B. R., Schoenfelt, K. Q., Barbosa-Lorenzi, V. C., Peris, E., Cui, C., Hoffman, A., Zhou, G., Fernandez, S., Zhai, L., Hall, B. A., Haka, A. S., Shah, A. M., Reardon, C. A., Brady, M. J., Rhodes, C. J., Maxfield, F. R. & Becker, L., 26 Sep 2017, In : Cell Reports. 20, 13, p. 3149-3161 13 p.

    Research output: Contribution to journalArticle

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. Decoding NADPH Oxidase 4 Expression in Human Tumors

    Meitzler, J. L., Makhlouf, H. R., Antony, S., Wu, Y., Butcher, D., Jiang, G., Juhasz, A., Lu, J., Dahan, I., Jansen-Dürr, P., Pircher, H., Shah, A. M., Roy, K. & Doroshow, J. H., 26 May 2017, In : Redox Biology. 13, p. 182–195

    Research output: Contribution to journalArticle

  18. 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

  19. Blood Pressure in Healthy Humans is Regulated by Neuronal NO Synthase

    Shabeeh, H., Khan, S., Jiang, B., Brett, S., Melikian, N., Casadei, B., Chowienczyk, P. J. & Shah, A. M., 1 May 2017, In : Hypertension. 69, 5, p. 970-976 7 p.

    Research output: Contribution to journalArticle

  20. 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

  21. 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

  22. Distinct Regulatory Effects of Myeloid Cell and Endothelial Cell Nox2 on Blood Pressure

    Sag, C. M., Schnelle, M., Zhang, J., Murdoch, C. E., Kossmann, S., Protti, A., Santos, C. X. C., Sawyer, G. J., Zhang, X., Mongue-Din, H., Richards, D. A., Brewer, A. C., Prysyazhna, O., Maier, L. S., Wenzel, P., Eaton, P. J. & Shah, A. M., 28 Mar 2017, In : Circulation (Baltimore).

    Research output: Contribution to journalArticle

  23. ECHOCARDIOGRAPHIC ESTIMATION OF MEAN PULMONARY ARTERY PRESSURE: A COMPARISON OF DIFFERENT APPROACHES TO PREDICT PULMONARY HYPERTENSION

    Seidler, T., Hellenkamp, K., Unsöld, B., Mushemi-Blake, S., Shah, A. & Hasenfuss, G., 21 Mar 2017, In : Journal of the American College of Cardiology. 69, 11, Supplement, p. 1889 1 p.

    Research output: Contribution to journalArticle

  24. 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

  25. Selective Enhancement of Insulin Sensitivity in the Endothelium in Vivo Reveals a Novel Proatherosclerotic Signaling Loop

    Viswambharan, H., Yuldasheva, N. Y., Sengupta, A., Imrie, H., Gage, M. C., Haywood, N., Walker, A. M. N., Skromna, A., Makova, N., Galloway, S., Shah, P., Sukumar, P., Porter, K. E., Grant, P. J., Shah, A., Santos, C. X., Li, J., Beech, D. J., Wheatcroft, S. B., Cubbon, R. M. & 1 others, Kearney, M. T., 3 Mar 2017, In : Circulation Research. 120, 5, p. 784-798 15 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. Hypoxia induces heart regeneration in adult mice

    Nakada, Y., Canseco, D. C., Thet, S., Abdisalaam, S., Asaithamby, A., Xavier Da Costa Dos Santos, C. S., Shah, A. M., Zhang, H., Faber, J. E., Kinter, M. T., Szweda, L. I., Xing, C., Hu, Z., Deberardinis, R. J., Schiattarella, G., Hill, J. A., Oz, O., Lu, Z., Zhang, C. C., Kimura, W. & 1 others, Sadek, H. A., 12 Jan 2017, In : NATURE. 541, 7636, p. 222-227 6 p.

    Research output: Contribution to journalArticle

  31. 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

  32. 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

  33. 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

  34. PHD2 is a regulator for glycolytic reprogramming in macrophages

    Guentsch, A., Beneke, A., Swain, L., Farhat, K., Nagarajan, S., Wielockx, B., Raithatha, K., Dudek, J., Rehling, P., Zieseniss, A., Jatho, A., Chong, M., Santos, C. X. C., Shah, A. M. & Katschinski, D. M., Jan 2017, In : Molecular and Cellular Biology. 37, 1, e00236-16.

    Research output: Contribution to journalArticle

  35. 2016
  36. Toll-like receptor 9 prevents cardiac rupture after myocardial infarction in mice independently of inflammation

    Omiya, S., Omori, Y., Taneike, M., Protti, A., Yamaguchi, O., Akira, S., Shah, A., Nishida, K. & Otsu, K., Dec 2016, In : American Journal of Physiology (Heart and Circulatory Physiology). 311, 6, p. H1485-H1497

    Research output: Contribution to journalArticle

  37. 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

  38. Redox Imaging Using Cardiac Myocyte-Specific Transgenic Biosensor Mice

    Swain, L., Kesemeyer, A., Meyer-Roxlau, S., Vettel, C., Zieseniss, A., Güntsch, A., Jatho, A., Becker, A., Nanadikar, M. S., Morgan, B., Dennerlein, S., Shah, A., El-Armouche, A., Nikolaev, V. O. & Katschinski, D. M., 14 Oct 2016, In : Circulation Research. 119, 9, p. 1004-1016 13 p.

    Research output: Contribution to journalArticle

  39. Apocynin and Nox2 regulate NF-κB by modifying thioredoxin-1 redox-state

    Trevelin, S. C., Dos Santos, C. X., Ferreira, R. G., de Sá Lima, L., Silva, R. L., Scavone, C., Curi, R., Alves-Filho, J. C., Cunha, T. M., Roxo-Júnior, P., Cervi, M-C., Laurindo, F. R. M., Hothersall, J. S., Cobb, A. M., Zhang, M., Ivetic, A., Shah, A. M., Lopes, L. R. & Cunha, F. Q., 4 Oct 2016, In : Scientific Reports. 6, 34581.

    Research output: Contribution to journalArticle

  40. 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

  41. CRISPR/Cas9-mediated knockout of p22phox leads to loss of Nox1 and Nox4, but not Nox5 activity

    Prior, K-K., Leisegang, M. S., Josipovic, I., Löwe, O., Shah, A. M., Weissmann, N., Schröder, K. & Brandes, R. P., Oct 2016, In : Redox Biology. 9, p. 287–295

    Research output: Contribution to journalArticle

  42. 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

  43. Glycoproteomics Reveals Decorin Peptides with Anti-Myostatin Activity in Human Atrial Fibrillation

    Barallobre-Barreiro, J., Gupta, S. K., Zoccarato, A., Kitazume-Taneike, R., Fava, M., Yin, X., Werner, T., Hirt, M. N., Zampetaki, A., Viviano, A., Chong, M., Bern, M., Kourliouros, A., Domenech, N., Willeit, P., Shah, A. M., Jahangiri, M., Schaefer, L., Fischer, J. W., Iozzo, R. V. & 6 others, Viner, R., Thum, T., Heineke, J., Kichler, A., Otsu, K. & Mayr, M., 13 Sep 2016, In : Circulation (Baltimore). 134, 11, p. 817-832 16 p.

    Research output: Contribution to journalArticle

  44. 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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