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Research Outputs

  1. 2014
  2. MicroRNAs Establish Robustness and Adaptability of a Critical Gene Network to Regulate Progenitor Fate Decisions during Cortical Neurogenesis

    Ghosh, T., Aprea, J., Nardelli, J., Engel, H., Selinger, C., Mombereau, C., Lemonnier, T., Moutkine, I., Schwendimann, L., Dori, M., Irinopoulou, T., Henrion-Caude, A., Benecke, A. G., Arnold, S. J., Gressens, P., Calegari, F. & Groszer, M., 26 Jun 2014, In : Cell Reports. 7, 6, p. 1779-1788 10 p.

    Research output: Contribution to journalArticle

  3. Cell Therapy in Dermatology

    Petrof, G., Abdul Wahab, A. & McGrath, J. A., Jun 2014, In : Cold Spring Harbor perspectives in medicine. 4, 6, 29 p., 015156.

    Research output: Contribution to journalArticle

  4. Gene therapies for inherited skin disorders

    Abdul Wahab, A., Qasim, W. & McGrath, J., Jun 2014, In : Seminars in Cutaneous Medicine and Surgery. 33, 2, p. 83-90 8 p.

    Research output: Contribution to journalArticle

  5. High levels of type VII Collagen expression in RDEB cSCC Keratinocytes increases PI3K and MAPK Signalling, Cell Migration and Invasion

    Pourreyron, C., Chen, M., McGrath, J. A., Salas-Alanis, J. C., South, A. P. & Leigh, I. M., Jun 2014, In : British Journal of Dermatology. 170, 6, p. 1256-1260 5 p.

    Research output: Contribution to journalArticle

  6. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

    Fine, J-D., Bruckner-Tuderman, L., Eady, R. A. J., Bauer, E. A., Bauer, J. W., Has, C., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., Leigh, I., Marinkovich, M. P., Martinez, A. E., McGrath, J. A., Mellerio, J. E., Moss, C., Murrell, D. F., Shimizu, H., Uitto, J., Woodley, D. & 1 others, Zambruno, G., Jun 2014, In : Journal of the American Academy of Dermatology. 70, 6, p. 1103-1126 24 p., N/A.

    Research output: Contribution to journalArticle

  7. Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3

    Kariminejad, A., Barzegar, M., Abdollahimajd, F., Pramanik, R. & McGrath, J. A., Jun 2014, In : Clinical and Experimental Dermatology. 39, 4, p. 492-495 4 p.

    Research output: Contribution to journalArticle

  8. 3D In Vitro Model of a Functional Epidermal Permeability Barrier from Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

    Petrova, A., Celli, A., Jacquet, L., Dafou, D., Crumrine, D., Hupe, M., Arno, M., Hobbs, C., Cvoro, A., Karagiannis, P., Devito, L., Sun, R., Adame, L. C., Vaughan, R., McGrath, J. A., Mauro, T. M. & Ilic, D., 6 May 2014, In : Stem Cell Reports. 2, 5, p. 675-689 15 p.

    Research output: Contribution to journalArticle

  9. 3D in vitro model of a functional epidermal permeability barrier fromhuman embryonic stem cells and induced pluripotent stem cells

    Petrova, A., Celli, A., Jacquet, L., Ntafou, D. D., Crumrine, D., Hupe, M., Arno, M., Hobbs, C., Cvoro, A., Karagiannis, P., Gasparini Devito, L., Sun, R., Adame, L., Vaughan, R., McGrath, J., Mauro, T. M. & Ilic, D., 6 May 2014, In : Stem Cell Reports. 2, 5, p. 675-689 15 p.

    Research output: Contribution to journalArticle

  10. Patient-Specific Naturally Gene-Reverted Induced Pluripotent Stem Cells in Recessive Dystrophic Epidermolysis Bullosa

    Tolar, J., McGrath, J. A., Xia, L., Riddle, M. J., Lees, C. J., Eide, C., Keene, D. R., Liu, L., Osborn, M. J., Lund, T. C., Blazar, B. R. & Wagner, J. E., May 2014, In : Journal of Investigative Dermatology. 134, 5, p. 1246-1254 9 p.

    Research output: Contribution to journalArticle

  11. Brain damage of the preterm infant: new insights into the role of inflammation

    Van Steenwinckel, J., Schang, A-L., Sigaut, S., Chhor, V., Degos, V., Hagberg, H., Baud, O., Fleiss, B. & Gressens, P., 1 Apr 2014, In : Biochemical Society Transactions. 42, 2, p. 557-563 7 p., N/A.

    Research output: Contribution to journalArticle

  12. Apparent diffusion coefficient measurements of the fetal brain during the third trimester of pregnancy: how reliable are they in clinical practice?

    Sartor, A., Arthurs, O., Alberti, C., Belarbi, N., Tilea, B., Boizeau, P., Oury, J-F., Elmaleh-Berges, M., Gressens, P., Sebag, G. & Alison, M., Apr 2014, In : Prenatal Diagnosis. 34, 4, p. 357-366 10 p., N/A.

    Research output: Contribution to journalArticle

  13. Kindlin-1 controls Wnt and TGF-beta availability to regulate cutaneous stem cell proliferation

    Rognoni, E., Widmaier, M., Jakobson, M., Ruppert, R., Ussar, S., Katsougkri, D., Böttcher, R. T., Lai-Cheong, J. E., Rifkin, D. B., McGrath, J. A. & Fässler, R., Apr 2014, In : Nature Medicine. 20, 4, p. 350-359 13 p.

    Research output: Contribution to journalArticle

  14. New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome

    Fuchs-Telem, D., Nousbeck, J., Singer, A., McGrath, J. A., Sarig, O. & Sprecher, E., Apr 2014, In : Clinical and Experimental Dermatology. 39, 3, p. 361-367 7 p., N/A.

    Research output: Contribution to journalArticle

  15. Genodermatoses and 125 years of the BJD

    Mcgrath, J. A., 1 Mar 2014, In : British Journal of Dermatology. 170, 3, p. 488-489 2 p., N/A.

    Research output: Contribution to journalArticle

  16. BPAG1-e Restricts Keratinocyte Migration through Control of Adhesion Stability

    Michael, M., Begum, R., Fong, K., Pourreyrone, C., South, A. P., McGrath, J. A. & Parsons, M., Mar 2014, In : Journal of Investigative Dermatology. 134, 3, p. 773-782 10 p., N/A.

    Research output: Contribution to journalArticle

  17. Failure of thyroid hormone treatment to prevent inflammation-induced white matter injury in the immature brain

    Schang, A-L., Van Steenwinckel, J., Chevenne, D., Alkmark, M., Hagberg, H., Gressens, P. & Fleiss, B., Mar 2014, In : Brain Behavior and Immunity. 37, p. 95-102 8 p.

    Research output: Contribution to journalArticle

  18. Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies

    Salam, A., Proudfoot, L. E. & McGrath, J. A., Mar 2014, In : Annals of Medicine. 46, 2, p. 49-61 13 p., N/A.

    Research output: Contribution to journalArticle

  19. Involvement of the Subplate Zone in Preterm Infants with Periventricular White Matter Injury

    Pogledic, I., Kostovic, I., Fallet-Bianco, C., Adle-Biassette, H., Gressens, P. & Verney, C., Mar 2014, In : Brain Pathology. 24, 2, p. 128-141 14 p., N/A.

    Research output: Contribution to journalArticle

  20. Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis

    Fu, D. J., Thomson, C., Lunny, D. P., Dopping-Hepenstal, P. J., McGrath, J. A., Smith, F. J. D., McLean, W. H. I. & Pedrioli, D. M. L., Mar 2014, In : Journal of Investigative Dermatology. 134, 3, p. 754-763 10 p., N/A.

    Research output: Contribution to journalArticle

  21. Limited ectrodactyly, ectodermal dysplasia and cleft lip-palate syndrome with a p63 mutation, associated with linear and whorled naevoid hypermelanosis

    Pratsou, P., Defty, C. L., Ozoemena, L., McGrath, J. A. & Gach, J. E., Mar 2014, In : Clinical and Experimental Dermatology. 39, 2, p. 266-268 3 p., N/A.

    Research output: Contribution to journalArticle

  22. Stem Cell Therapy for Neonatal Brain Injury

    Fleiss, B., Guillot, P. V., Titomanlio, L., Baud, O., Hagberg, H. & Gressens, P., Mar 2014, In : Clinics in Perinatology. 41, 1, p. 133-148 16 p., N/A.

    Research output: Contribution to journalArticle

  23. The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome

    Has, C., Kiritsi, D., Mellerio, J. E., Franzke, C-W., Wedgeworth, E., Tantcheva-Poor, I., Kernland-Lang, K., Itin, P., Simpson, M. A., Dopping-Hepenstal, P. J., Fujimoto, W., McGrath, J. A. & Bruckner-Tuderman, L., Mar 2014, In : Journal of Investigative Dermatology. 134, 3, p. 845-849 5 p., N/A.

    Research output: Contribution to journalLetter

  24. A Th2 Cytokine Interleukin 31 Signature in a Case of Sporadic Lichen Amyloidosis

    Dousset, L., Seneschal, J., Boniface, K., Charreau, S., Ezzedine, K., Milpied, B., Mossalayi, M. D., McGrath, J. A., Lecron, J. C. & Taieb, A., 27 Feb 2014, In : Acta Dermato-Venereologica. N/A, N/A, p. N/A N/A.

    Research output: Contribution to journalArticle

  25. Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes

    Dayal, J. H., Cole, C. L., Pourreyron, C., Watt, S. A., Lim, Y. Z., Salas-Alanis, J. C., Murrell, D. F., McGrath, J. A., Stieger, B., Jahoda, C., Leigh, I. M. & South, A. P., 15 Feb 2014, In : Journal of Cell Science. 127, 4, p. 740-751 12 p., N/A.

    Research output: Contribution to journalArticle

  26. Cytomegalovirus-induced brain malformations in fetuses

    Teissier, N., Fallet-Bianco, C., Delezoide, A-L., Laquerrière, A., Marcorelles, P., Khung-Savatovsky, S., Nardelli, J., Cipriani, S., Csaba, Z., Picone, O., Golden, J. A., Van Den Abbeele, T., Gressens, P. & Adle-Biassette, H., Feb 2014, In : Journal of Neuropathology and Experimental Neurology. 73, 2, p. 143-158 16 p.

    Research output: Contribution to journalArticle

  27. On Medawar's 'Actively acquired tolerance of foreign cells'

    Tolar, J., Tolarova, S. & McGrath, J. A., Feb 2014, In : Experimental Dermatology. 23, 2, p. 97-98 2 p.

    Research output: Contribution to journalArticle

  28. Treatment of Hereditary Epidermolysis Bullosa: Updates and Future Prospects

    Hsu, C-K., Wang, S-P., Lee, J. Y-Y. & McGrath, J. A., Feb 2014, In : American Journal of Clinical Dermatology. 15, 1, p. 1-6 6 p., N/A.

    Research output: Contribution to journalArticle

  29. A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations

    Vahlquist, A., Virtanen, M., Hellstrom-Pigg, M., Dragomir, A., Ryberg, K., Wilson, N. J., Ostman-Smith, I., Lu, L., McGrath, J. A. & Smith, F. J. D., Jan 2014, In : Clinical and Experimental Dermatology. 39, 1, p. 30-34 5 p., N/A.

    Research output: Contribution to journalArticle

  30. Cytokine responses to quantiferon peptides in pediatric tuberculosis: A pilot study

    Armand, M., Chhor, V., de Lauzanne, A., Guérin-El Khourouj, V., Pédron, B., Jeljeli, M., Gressens, P., Faye, A. & Sterkers, G., Jan 2014, In : The Journal of infection. 68, 1, p. 62-70 9 p., N/A.

    Research output: Contribution to journalArticle

  31. Mutations in EXPH5 result in autosomal recessive inherited skin fragility

    Liu, L., Mellerio, J. E., Martinez, A. E., McMillan, J. R., Aristodemou, S., Parsons, M. & McGrath, J. A., Jan 2014, In : British Journal of Dermatology. 170, 1, p. 196-199 4 p., N/A.

    Research output: Contribution to journalArticle

  32. Naevus sebaceus: a mosaic RASopathy

    Aslam, A., Salam, A., Griffiths, C. E. M. & McGrath, J. A., Jan 2014, In : Clinical and Experimental Dermatology. 39, 1, p. 1-6 6 p., N/A.

    Research output: Contribution to journalLiterature review

  33. Next generation diagnostics of heritable connective tissue disorders

    Salam, A., Simpson, M. A., Stone, K. L., Takeichi, T., Nanda, A., Akiyama, M. & McGrath, J. A., Jan 2014, In : Matrix Biology. 33, N/A, p. 35-40 6 p., N/A.

    Research output: Contribution to journalArticle

  34. Somatostatin receptors type 2 and 5 expression and localization during human pituitary development

    Peineau, S., Guimiot, F., Csaba, Z., Jacquier, S., Fafouri, A., Schwendimann, L., de Roux, N., Schulz, S., Gressens, P., Auvin, S. & Dournaud, P., Jan 2014, In : Endocrinology. 155, 1, p. 33-39 7 p., N/A.

    Research output: Contribution to journalArticle

  35. Brain Cell Death Is Reduced With Cooling by 3.5°C to 5°C but Increased With Cooling by 8.5°C in a Piglet Asphyxia Model

    Alonso-Alconada, D., Broad, K. D., Bainbridge, A., Chandrasekaran, M., Faulkner, S. D., Kerenyi, A., Hassell, J., Rocha-Ferreira, E., Hristova, M., Fleiss, B., Bennett, K., Kelen, D., Cady, E., Gressens, P., Golay, X. & Robertson, N. J., 2014, In : Stroke; a journal of cerebral circulation. 4 p.

    Research output: Contribution to journalArticle

  36. Epithelial Inflammation Resulting from an Inherited Loss-of-Function Mutation in EGFR

    Campbell, P., Morton, P. E., Takeichi, T., Salam, A., Roberts, N., Proudfoot, L. E., Mellerio, J. E., Aminu, K., Wellington, C., Patil, S. N., Akiyama, M., Liu, L., McMillan, J. R., Aristodemou, S., Ishida-Yamamoto, A., Abdul-Wahab, A., Petrof, G., Fong, K., Harnchoowong, S., Stone, K. L. & 5 others, Harper, J. I., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A., 2014, In : Journal of Investigative Dermatology. N/A, N/A, p. N/A 9 p., N/A.

    Research output: Contribution to journalArticle

  37. Revisiting thyroid hormone treatment to prevent brain damage of prematurity

    Schang, A-L., Gressens, P. & Fleiss, B., 2014, In : Journal of Neuroscience Research. 2 p.

    Research output: Contribution to journalComment/debate

  38. Underrecognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations

    Szczecinska, W., Nesteruk, D., Wertheim-Tysarowska, K., Greenblatt, D. T., Baty, D., Browne, F., Liu, L., Ozoemena, L., Terron-Kwiatkowski, A., McGrath, J. A., Mellerio, J. E., Morton, J., Woźniak, K., Kowalewski, C. & Has, C., 2014, In : British Journal of Dermatology. N/A, N/A, p. N/A 15 p., N/A.

    Research output: Contribution to journalArticle

  39. 2013
  40. Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, netherton syndrome

    Di, W-L., Mellerio, J. E., Bernadis, C., Harper, J., Abdul-Wahab, A., Ghani, S., Chan, L., Martinez-Queipo, M., Hara, H., McNicol, A-M., Farzaneh, F., McGrath, J., Thrasher, A. & Qasim, W., 11 Dec 2013, In : Human Gene Therapy. 24, 4, p. 182-190 9 p., N/A.

    Research output: Contribution to journalArticle

  41. A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome

    Barzegar, M., Mozafari, N., Kariminejad, A., Asadikani, Z., Ozoemena, L. & McGrath, J. A., Dec 2013, In : British Journal of Dermatology. 169, 6, p. 1353-1356 4 p., N/A.

    Research output: Contribution to journalArticle

  42. Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

    Takeichi, T., Nanda, A., Liu, L., Salam, A., Campbell, P., Fong, K., Akiyama, M., Ozoemena, L., Stone, K. L., Al-Ajmi, H., Simpson, M. A. & McGrath, J. A., Dec 2013, In : Experimental Dermatology. 22, 12, p. 825-831 7 p., N/A.

    Research output: Contribution to journalArticle

  43. Oxygénothérapie hyperbare et gaz inertes dans l'ischémie cérébrale et le traumatisme crânien

    Chhor, V., Canini, F., De Rudnicki, S., Dahmani, S., Gressens, P. & Constantin, P., Dec 2013, In : Annales françaises d'anesthèsie et de rèanimation. 32, 12, p. 863-871 9 p., N/A.

    Research output: Contribution to journalArticle

  44. Sporadic Kindler Syndrome with a novel mutation

    Almeida, H. L. D., Heckler, G. T., Fong, K., Lai-Cheong, J. & McGrath, J., Dec 2013, In : ANAIS BRASILEIROS DE DERMATOLOGIA. 88, 6 Suppl 1, p. 212-215 4 p., N/A.

    Research output: Contribution to journalArticle

  45. Stiripentol exhibits higher anticonvulsant properties in the immature than in the mature rat brain

    Auvin, S., Lecointe, C., Dupuis, N., Desnous, B., Lebon, S., Gressens, P. & Dournaud, P., Dec 2013, In : Epilepsia. 54, 12, p. 2082-2090 9 p., N/A.

    Research output: Contribution to journalArticle

  46. Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial

    Petrof, G., Martinez-Queipo, M., Mellerio, J. E., Kemp, P. & McGrath, J. A., Nov 2013, In : British Journal of Dermatology. 169, 5, p. 1025-1033 9 p., N/A.

    Research output: Contribution to journalArticle

  47. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

    Samuelov, L., Sarig, O., Harmon, R. M., Rapaport, D., Ishida-Yamamoto, A., Isakov, O., Koetsier, J. L., Gat, A., Goldberg, I., Bergman, R., Spiegel, R., Eytan, O., Geller, S., Peleg, S., Shomron, N., Goh, C. S. M., Wilson, N. J., Smith, F. J. D., Pohler, E., Simpson, M. A. & 6 others, McLean, W. H. I., Irvine, A. D., Horowitz, M., McGrath, J. A., Green, K. J. & Sprecher, E., Oct 2013, In : Nature Genetics. 45, 10, p. 1244-1248 6 p., N/A.

    Research output: Contribution to journalLetter

  48. Acral Peeling Skin Syndrome Resulting from a Homozygous Nonsense Mutation in the CSTA Gene Encoding Cystatin A

    Krunic, A. L., Stone, K. L., Simpson, M. A. & McGrath, J. A., Sep 2013, In : Pediatric Dermatology. 30, 5, p. e87-e88 2 p., N/A.

    Research output: Contribution to journalArticle

  49. Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

    Adle-Biassette, H., Saugier-Veber, P., Fallet-Bianco, C., Delezoide, A-L., Razavi, F., Drouot, N., Bazin, A., Beaufrère, A-M., Bessières, B., Blesson, S., Bucourt, M., Carles, D., Devisme, L., Dijoud, F., Fabre, B., Fernandez, C., Gaillard, D., Gonzales, M., Jossic, F., Joubert, M. & 14 others, Laurent, N., Leroy, B., Loeuillet, L., Loget, P., Marcorelles, P., Martinovic, J., Perez, M-J., Satge, D., Sinico, M., Tosi, M., Benichou, J., Gressens, P., Frebourg, T. & Laquerrière, A., Sep 2013, In : Acta Neuropathologica. 126, 3, p. 427-442 16 p., N/A.

    Research output: Contribution to journalArticle

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