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Research Outputs

  1. 2017
  2. Integrative genomics of microglia implicates DLG4 (PSD95) in the white matter development of preterm infants

    Krishnan, M. L., Van Steenwinckel, J., Schang, A., Yan, J., Arnadottir, J., Le Charpentier, T., Csaba, Z., Dournaud, P., Cipriani, S., Auvynet, C., Titomanlio, L., Pansiot, J., Ball, G., Boardman, J. P., Walley, A. J., Saxena, A., Mirza, G., Fleiss, B., Edwards, A. D., Petretto, E. & 1 others, Gressens, P., 1 Dec 2017, In : Nature Communications. 8, 1

    Research output: Contribution to journalArticle

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. Reactive astrocyte COX2-PGE2 production inhibits oligodendrocyte maturation in neonatal white matter injury

    Shiow, L. R., Favrais, G., Schirmer, L., Schang, A-L., Cipriani, S., Andres, C., Wright, J. N., Nobuta, H., Fleiss, B., Gressens, P. & Rowitch, D. H., 30 Aug 2017, In : Glia.

    Research output: Contribution to journalArticle

  9. 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

  10. Persistently Altered Metabolic Phenotype following Perinatal Excitotoxic Brain Injury

    Blaise, B. J., Schwendimann, L., Chhor, V., Degos, V., Hodson, M. P., Dallmann, G., Keller, M., Gressens, P. & Fleiss, B., Jul 2017, In : Developmental Neuroscience. 39, p. 182-191 10 p.

    Research output: Contribution to journalArticle

  11. 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

  12. 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

  13. 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

  14. 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

  15. Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies"

    Passemard, S., Perez, F., Colin-Lemesre, E., Rasika, S., Gressens, P. & El Ghouzzi, V., Jun 2017, In : Progress in Neurobiology. 153, p. 46-63 18 p.

    Research output: Contribution to journalArticle

  16. Long-Term Neuropathological Changes Associated with Cerebral Palsy in a Nonhuman Primate Model of Hypoxic-Ischemic Encephalopathy

    McAdams, R. M., Fleiss, B., Traudt, C., Schwendimann, L., Snyder, J. M., Haynes, R. L., Natarajan, N., Gressens, P. & Juul, S. E., 10 May 2017, In : Developmental Neuroscience. 39, 1-4, p. 124-140

    Research output: Contribution to journalArticle

  17. 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

  18. 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

  19. Dexmedetomidine Combined with Therapeutic Hypothermia Is Associated with Cardiovascular Instability and Neurotoxicity in a Piglet Model of Perinatal Asphyxia

    Ezzati, M., Kawano, G., Rocha-Ferreira, E., Alonso-Alconada, D., Hassell, J. K., Broad, K. D., Fierens, I., Fleiss, B., Bainbridge, A., Price, D. L., Kaynezhad, P., Anderson, B., Hristova, M., Tachtsidis, I., Golay, X., Gressens, P., Sanders, R. D. & Robertson, N. J., 8 Apr 2017, In : Developmental Neuroscience.

    Research output: Contribution to journalArticle

  20. Surgery increases cell death and induces changes in gene expression compared with anesthesia alone in the developing piglet brain

    Broad, K. D., Kawano, G., Fierens, I., Rocha-Ferreira, E., Hristova, M., Ezzati, M., Rostami, J., Alonso-Alconada, D., Chaban, B., Hassell, J., Fleiss, B., Gressens, P., Sanders, R. D. & Robertson, N. J., 29 Mar 2017, In : PLoS ONE. 12, 3, 15 p., e0173413.

    Research output: Contribution to journalArticle

  21. 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

  22. Axl Mediates ZIKA Virus Entry in Human Glial Cells and Modulates Innate Immune Responses

    Meertens, L., Labeau, A., Dejarnac, O., Cipriani, S., Sinigaglia, L., Bonnet-Madin, L., Le Charpentier, T., Hafirassou, M. L., Zamborlini, A., Cao-Lormeau, V-M., Coulpier, M., Missé, D., Jouvenet, N., Tabibiazar, R., Gressens, P., Schwartz, O. & Amara, A., 10 Jan 2017, In : Cell Reports. 18, 2, p. 324-333 10 p.

    Research output: Contribution to journalArticle

  23. 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

  24. 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

  25. How to: Measuring blood cytokines in biological psychiatry using commercially available multiplex immunoassays

    Belzeaux, R., Lefebvre, M-N., Lazzari, A., Le Carpentier, T., Consoloni, J-L., Zendjidjian, X., Abbar, M., Courtet, P., Naudin, J., Boucraut, J., Gressens, P., Glaichenhaus, N. & Ibrahim, E. C., Jan 2017, In : Psychoneuroendocrinology. 75, p. 72-82 11 p.

    Research output: Contribution to journalArticle

  26. Neuroinflammation, myelin and behavior: Temporal patterns following mild traumatic brain injury in mice

    Taib, T., Leconte, C., Van Steenwinckel, J., Cho, A. H., Palmier, B., Torsello, E., Lai Kuen, R., Onyeomah, S., Ecomard, K., Benedetto, C., Coqueran, B., Novak, A-C., Deou, E., Plotkine, M., Gressens, P., Marchand-Leroux, C. & Besson, V. C., 2017, In : PLoS ONE. 12, 9, p. e0184811

    Research output: Contribution to journalArticle

  27. 2016
  28. Temporal Characterization of Microglia/Macrophage Phenotypes in a Mouse Model of Neonatal Hypoxic-Ischemic Brain Injury

    Hellström Erkenstam, N., Smith, P. L. P., Fleiss, B., Nair, S., Svedin, P., Wang, W., Boström, M., Gressens, P., Hagberg, H., Brown, K. L., Sävman, K. & Mallard, C., 15 Dec 2016, In : Frontiers in cellular neuroscience. 10, p. 286

    Research output: Contribution to journalArticle

  29. Pro-epileptogenic effects of viral-like inflammation in both mature and immature brains

    Dupuis, N., Mazarati, A., Desnous, B., Chhor, V., Fleiss, B., Le Charpentier, T., Lebon, S., Csaba, Z., Gressens, P., Dournaud, P. & Auvin, S., 12 Dec 2016, In : Journal of neuroinflammation. 13, 1, p. 307

    Research output: Contribution to journalArticle

  30. Transcriptomic regulations in oligodendroglial and microglial cells related to brain damage following fetal growth restriction

    Rideau Batista Novais, A., Pham, H., Van de Looij, Y., Bernal, M., Mairesse, J., Zana-Taieb, E., Colella, M., Jarreau, P-H., Pansiot, J., Dumont, F., Sizonenko, S., Gressens, P., Charriaut-Marlangue, C., Tanter, M., Demene, C., Vaiman, D. & Baud, O., Dec 2016, In : Glia. 64, 12, p. 2306-2320 15 p.

    Research output: Contribution to journalArticle

  31. Isoflurane Exposure Induces Cell Death, Microglial Activation and Modifies the Expression of Genes Supporting Neurodevelopment and Cognitive Function in the Male Newborn Piglet Brain

    Broad, K. D., Hassell, J., Fleiss, B., Kawano, G., Ezzati, M., Rocha-Ferreira, E., Hristova, M., Bennett, K., Fierens, I., Burnett, R., Chaban, B., Alonso-Alconada, D., Oliver-Taylor, A., Tachsidis, I., Rostami, J., Gressens, P., Sanders, R. D. & Robertson, N. J., 29 Nov 2016, In : PLoS ONE. 11, 11, p. e0166784

    Research output: Contribution to journalArticle

  32. Role of microglia in a mouse model of paediatric traumatic brain injury

    Chhor, V., Moretti, R., Le Charpentier, T., Sigaut, S., Lebon, S., Schwendimann, L., Oré, M-V., Zuiani, C., Milan, V., Josserand, J., Vontell, R., Pansiot, J., Degos, V., Ikonomidou, C., Titomanlio, L., Hagberg, H., Gressens, P. & Fleiss, B., 4 Nov 2016, In : Brain, Behavior, and Immunity.

    Research output: Contribution to journalArticle

  33. 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

  34. ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53

    Ghouzzi, V. E., Bianchi, F. T., Molineris, I., Mounce, B. C., Berto, G. E., Rak, M., Lebon, S., Aubry, L., Tocco, C., Gai, M., Chiotto, A. M., Sgrò, F., Pallavicini, G., Simon-Loriere, E., Passemard, S., Vignuzzi, M., Gressens, P. & Di Cunto, F., 27 Oct 2016, In : Cell Death & Disease. 7, 10, e2440.

    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. Contribution of mast cells to injury mechanisms in a mouse model of pediatric traumatic brain injury

    Moretti, R., Chhor, V., Bettati, D., Banino, E., De Lucia, S., Le Charpentier, T., Lebon, S., Schwendimann, L., Pansiot, J., Rasika, S., Degos, V., Titomanlio, L., Gressens, P. & Fleiss, B., 10 Sep 2016, In : Journal of Neuroscience Research.

    Research output: Contribution to journalArticle

  38. 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

  39. 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

  40. ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

    Izumi, K., Brett, M., Nishi, E., Drunat, S., Tan, E-S., Fujiki, K., Lebon, S., Cham, B., Masuda, K., Arakawa, M., Jacquinet, A., Yamazumi, Y., Chen, S-T., Verloes, A., Okada, Y., Katou, Y., Nakamura, T., Akiyama, T., Gressens, P., Foo, R. & 4 others, Passemard, S., Tan, E-C., El Ghouzzi, V. & Shirahige, K., 4 Aug 2016, In : American Journal of Human Genetics. 99, 2, p. 451–459

    Research output: Contribution to journalArticle

  41. Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

    Harding, BN., Moccia, A., Drunat, S., Soukarieh, O., Tubeuf, H., Chitty, LS., Verloes, A., Gressens, P., El Ghouzzi, V., Joriot, S., Di Cunto, F., Martins, A., Passemard, S. & Bielas, SL., 4 Aug 2016, In : American Journal of Human Genetics. 99, 2, p. 511–520

    Research output: Contribution to journalArticle

  42. Glial response to 17β-estradiol in neonatal rats with excitotoxic brain injury

    Pansiot, J., Pham, H., Dalous, J., Chevenne, D., Colella, M., Schwendimann, L., Fafouri, A., Mairesse, J., Moretti, R., Schang, A-L., Charriaut-Marlangue, C., Gressens, P. & Baud, O., Aug 2016, In : Experimental Neurology. 282, p. 56-65 10 p.

    Research output: Contribution to journalArticle

  43. Pharmacokinetics and tissue diffusion of ganciclovir in mice and rats

    Teissier, N., Boujemla, I., Fakhoury, M., Nassar, M., Adle-Biassette, H., Marie-Françoise, H., Jacqz-Aigrain, E. & Gressens, P., Aug 2016, In : Antiviral Research. 132, p. 111–115

    Research output: Contribution to journalArticle

  44. Cytomegalovirus Infection of the Rat Developing Brain In Utero Prominently Targets Immune Cells and Promotes Early Microglial Activation

    Cloarec, R., Bauer, S., Luche, H., Buhler, E., Pallesi-Pocachard, E., Salmi, M., Courtens, S., Massacrier, A., Grenot, P., Teissier, N., Watrin, F., Schaller, F., Adle-Biassette, H., Gressens, P., Malissen, M., Stamminger, T., Streblow, D. N., Bruneau, N. & Szepetowski, P., 29 Jul 2016, In : PLoS ONE. 11, 7, e0160176.

    Research output: Contribution to journalArticle

  45. Melatonin modulates neonatal brain inflammation through ER stress, autophagy and miR-34a/SIRT1 pathway

    Carloni, S., Favrais, G., Saliba, E., Albertini, M. C., Chalon, S., Longini, M., Gressens, P., Buonocore, G. & Balduini, W., 21 Jul 2016, In : Journal of Pineal Research.

    Research output: Contribution to journalArticle

  46. 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

  47. 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

  48. 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

  49. Incontinentia pigmenti in a father and daughter

    Rashidghamat, E., Hsu, C-K., Nanda, A., Liu, L., Al-Ajmi, H. & McGrath, J. A., 1 Apr 2016, In : British Journal of Dermatology.

    Research output: Contribution to journalArticle

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