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Research Outputs

  1. 2017
  2. Targeted neurogenesis pathway-based gene analysis identifies ADORA2A associated with hippocampal volume in mild cognitive impairment and Alzheimer's disease

    Horgusluoglu-Moloch, E., Nho, K., Risacher, S. L., Kim, S., Foroud, T., Shaw, L. M., Trojanowski, J. Q., Aisen, P. S., Petersen, R. C., Jack, C. R., Lovestone, S., Simmons, A., Weiner, M. W. & Saykin, A. J., 1 Dec 2017, In : Neurobiology of Aging. 60, p. 92-103 12 p.

    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. Prediction of uncomplicated pregnancies in obese women: a prospective multicentre study

    C Vieira, M., White, S. L., Patel, N., Seed, P. T., Briley, A. L., Sandall, J., Welsh, P., Sattar, N., Nelson, S. M., Lawlor, D. A., Poston, L., Pasupathy, D. & UPBEAT Consortium, 3 Nov 2017, In : BMC Medicine. 15, 1, p. 194

    Research output: Contribution to journalArticle

  6. DISCOVERY, REPLICATION AND EXTENSION STUDY OF PLASMA PROTEOMIC BIOMARKERS RELATING TO BRAIN AMYLOID BURDEN (CSF Aβ OR AMYLOID-PET) IN THE EMIF-AD BIOMARKER DISCOVERY COHORT: 2017 Abstract Supplement

    Westwood, S., Baird, A. L., Hye, A., Bos, I., Vos, S. J. B., Vandenberghe, R., Scheltens, P., Engelborghs, S., Frisoni, G. B., Molinuevo, J. L., Wallin, A., Lleó, A., Popp, J., Martinez-Lage, P., Snowden, S. G., Legido-Quigley, C., Bertram, L., Barkhof, F., Zetterberg, H., Streffer, J. & 2 others, Visser, P. J. & Lovestone, S., 20 Oct 2017, In : Alzheimer's & Dementia. 13, 7, Supplement, p. P361-P362

    Research output: Contribution to journalArticle

  7. PET TAU AND AMYLOID-BETA DIFFER IN THEIR RELATIONSHIP TO AGE, COGNITION AND CSF BIOMARKERS IN MILD ALZHEIMER’S DISEASE: AN OBSERVATIONAL STUDY: 2017 Abstract Supplement

    Koychev, I. G., Gunn, R. N., Firouzian, A., Lawson, J., Zamboni, G., Ridha, B. H., Sahakian, B., Rowe, J. B., Thomas, A., Rochester, L., Ffytche, D., Howard, R. J., Zetterberg, H., MacKay, C. & Lovestone, S., 20 Oct 2017, In : Alzheimer's & Dementia. 13, 7, Supplement, p. P243

    Research output: Contribution to journalPoster abstract

  8. PET TAU AND AMYLOID-BETA DIFFER IN THEIR RELATIONSHIP TO AGE, COGNITION AND CSF BIOMARKERS IN MILD ALZHEIMER’S DISEASE: AN OBSERVATIONAL STUDY: 2017 Abstract Supplement

    Koychev, I. G., Gunn, R. N., Firouzian, A., Lawson, J., Zamboni, G., Ridha, B. H., Sahakian, B., Rowe, J. B., Thomas, A., Rochester, L., Ffytche, D., Howard, R. J., Zetterberg, H., MacKay, C. & Lovestone, S., 20 Oct 2017, In : Alzheimer's & Dementia. 13, 7, Supplement, p. P456-P457

    Research output: Contribution to journalPoster abstract

  9. Amyloid beta synaptotoxicity is Wnt–planar cell polarity dependent and blocked by fasudil

    Sellers, K. J., Elliott, C., Jackson, J., Ghosh, A., Ribe, E., Rojo-Sanchís, A., Jarosz-Griffiths, H. H., Watson, I. A., Xia, W., Semenov, M., Morin, P., Hooper, N. M., Porter, R., Preston, J., Al-Shawi, R., Baillie, G., Lovestone, S., Cuadrado, A., Harte, M., Simons, P. & 2 others, Srivastava, D. P. & Killick, R., 19 Oct 2017, In : Alzheimer's & Dementia.

    Research output: Contribution to journalArticle

  10. 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

  11. 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

  12. 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

  13. 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

  14. Hormone-secreting adrenal tumours cause severe hypertension and high rates of poor pregnancy outcome: a UKOSS study with case control comparisons

    Quartermaine, G., Lambert, K., Rees, K., Seed, P. T., Dhanjal, M. K., Knight, M., McCance, D. R. & Williamson, C., 5 Sep 2017, In : BJOG.

    Research output: Contribution to journalArticle

  15. 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

  16. OP 2 Placental growth factor informed management of suspected pre-eclampsia and/or fetal growth restriction: The MAPPLE cohort study

    Sharp, A., Chappell, L., Dekker, G., Pelletier, S., Garnier, Y., Zeren, O., Hillerer, K. M., Fischer, T., Seed, P., Turner, M., Shennan, A. & Alfirevic, Z., 12 Aug 2017, In : Pregnancy Hypertension. 9, p. 9-10 2 p.

    Research output: Contribution to journalMeeting abstract

  17. Metabolic profiling of gestational diabetes in obese women during pregnancy

    White, S. L., Pasupathy, D., Sattar, N., Nelson, S. M., Lawlor, D. A., Briley, A. L., Seed, P. T., Welsh, P., Poston, L. & UPBEAT Consortium, 1 Aug 2017, In : Diabetologia. 60, 10, p. 1603-1912 10 p.

    Research output: Contribution to journalArticle

  18. 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

  19. 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

  20. EXPLORING THE RELATIONSHIP BETWEEN ANAEMIA AND ALZHEIMER’S DISEASE: 2017 Abstract Supplement

    Winchester, L., Nevado-Holgado, A. J. & Lovestone, S., 20 Jul 2017, In : Alzheimer's & Dementia. 13, 7, Supplement, p. P221

    Research output: Contribution to journalMeeting abstract

  21. NRF2 deficiency replicates transcriptomic changes in Alzheimer's patients and worsens APP and TAU pathology

    Rojo, A. I., Pajares, M., Rada, P., Nuñez, A., Nevado-Holgado, A. J., Killik, R., Van Leuven, F., Ribe, E., Lovestone, S., Yamamoto, M. & Cuadrado, A., 5 Jul 2017, In : Redox Biology.

    Research output: Contribution to journalArticle

  22. DISCOVERY AND VALIDATION OF MULTIMODAL BIOMARKER SIGNATURES RELATING TO ALZHEIMER'S DISEASE PATHOLOGY AND PROGRESSION: 2017 Abstract Supplement

    Westwood, S., Hye, A., Lleó, A., Nevado-Holgado, A. J., Baird, A. L., Wallin, A., Leslie, A., Jimenez, B., Liu, B. Y., Legido-Quigley, C., Dima, D., Ruvolo, D., Holmes, E., D'Hondt, E., Westman, E., Barkhof, F., Frisoni, G. B., Zetterberg, H., Bos, I., Pearce, J. & 27 others, Streffer, J., Molinuevo, J. L., Popp, J., Bertram, L., Whiley, L., Maslen, L., Gomez-Romero, M., David, M., Lewis, M., Kurbatova, N., Ashton, N. J., Voyle, N., Kowalczyk, O., Martinez-Lage, P., Proitsi, P., Scheltens, P., Visser, P. J., Dobson, R. JB., Vandenberghe, R., Engelborghs, S., Vos, S. J. B., Snowden, S. G., Athersuch, T., Ashby, T., Kimhofer, T., Verachtert, W. & Lovestone, S., Jul 2017, In : Alzheimer's & Dementia. 13, 7, Supplement, p. P174-P175

    Research output: Contribution to journalMeeting abstract

  23. 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

  24. HYdroxychloroquine to Improve Pregnancy Outcome in Women with AnTIphospholipid Antibodies (HYPATIA) Protocol: A Multinational Randomized Controlled Trial of Hydroxychloroquine versus Placebo in Addition to Standard Treatment in Pregnant Women with Antiphospholipid Syndrome or Antibodies

    Schreiber, K., Breen, K., Cohen, H., Jacobsen, S., Middeldorp, S., Pavord, S., Regan, L., Roccatello, D., Robinson, S. E., Sciascia, S., Seed, P. T., Watkins, L. & Hunt, B. J., 13 Jun 2017, In : Seminars in Thrombosis and Hemostasis.

    Research output: Contribution to journalArticle

  25. 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

  26. 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

  27. 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

  28. Maternal BMI and diabetes in pregnancy: Investigating variations between ethnic groups using routine maternity data from London, UK

    Nishikawa, E., Oakley, L., Seed, P., Doyle, P. & Oteng-Ntim, E., 1 Jun 2017, In : PL o S One . 12, 6, e0179332.

    Research output: Contribution to journalArticle

  29. 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

  30. 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

  31. Mitochondrial genes are altered in blood early in Alzheimer's disease

    Lunnon, K., Keohane, A., Pidsley, R., Newhouse, S., Riddoch-Contreras, J., Thubron, E. B., Devall, M., Soininen, H., Kłoszewska, I., Mecocci, P., Tsolaki, M., Vellas, B., Schalkwyk, L., Dobson, R., Malik, A. N., Powell, J., Lovestone, S. & Hodges, A., 1 May 2017, In : Neurobiology of Aging. 53, p. 36-47 12 p.

    Research output: Contribution to journalArticle

  32. 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

  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. Effect of reproductive ageing on pregnant mouse uterus and cervix

    Patel, R., Moffatt, J. D., Mourmoura, E., Demaison, L., Seed, P. T., Poston, L. & Tribe, R. M., 15 Mar 2017, In : The Journal of physiology. 595, 6, p. 2065–2084

    Research output: Contribution to journalArticle

  35. Reply: Rapid changes in practice make analysis of historical databases irrelevant for contemporary counselling

    Sunkara, S. K., Lamarca, A., Polyzos, N. P., Seed, P. T. & Khalaf, Y., 25 Feb 2017, In : Human reproduction (Oxford, England). 32, 4, p. 964-965 2 p.

    Research output: Contribution to journalArticle

  36. Infant adiposity following a randomised controlled trial of a behavioural intervention in obese pregnancy

    Patel, N., Godfrey, K. M., Pasupathy, D., Levin, J., Flynn, A. C., Hayes, L., Briley, A. L., Bell, R., Lawlor, D. A., Oteng-Ntim, E., Nelson, S. M., Robson, S. C., Sattar, N., Singh, C., Wardle, J., White, S., Seed, P. T. & Poston, L., 20 Feb 2017, In : International Journal of Obesity.

    Research output: Contribution to journalArticle

  37. A Multi-Cohort Study of ApoE ϵ 4 and Amyloid-β Effects on the Hippocampus in Alzheimer's Disease

    Khan, W., Giampietro, V., Banaschewski, T., Barker, G. J., Bokde, A. L. W., Büchel, C., Conrod, P., Flor, H., Frouin, V., Garavan, H., Gowland, P., Heinz, A., Ittermann, B., Lemaître, H., Nees, F., Paus, T., Pausova, Z., Rietschel, M., Smolka, M. N., Ströhle, A. & 19 others, Gallinat, J., Vellas, B., Soininen, H., Kloszewska, I., Tsolaki, M., Mecocci, P., Spenger, C., Villemagne, V. L., Masters, C. L., Muehlboeck, J. S., Bäckman, L., Fratiglioni, L., Kalpouzos, G., Wahlund, L. O., Schumann, G., Lovestone, S., Williams, S. C. R., Westman, E. & Simmons, A., 3 Feb 2017, In : JOURNAL OF ALZHEIMERS DISEASE. 56, 3, p. 1159-1174 16 p.

    Research output: Contribution to journalArticle

  38. 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

  39. 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

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