Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene

Autor: Yahya, S, Smith, CEL, Poulter, JA, McKibbin, M, Arno, G, Ellingford, J, Kämpjärvi, K, Khan, MI, Cremers, FPM, Hardcastle, AJ, Castle, B, Steel, DHW, The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Webster, AR, Black, GC, El-Asrag, ME, Ali, M, Toomes, C, Inglehearn, CF

Purpose To characterise the phenotype observed in a case series with macular disease and determine the cause. Design Multi-centre case series. Participants Six families (seven patients) with sporadic or multiplex macular disease with onset at 36-78 y

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e648b1ddfe054c1b1657fdd744e16b62

Evidence for a New Locus for X-Linked Retinitis Pigmentosa (RP23)

Autor: Gorin, MB, Hardcastle, AJ, Thiselton, DL, Zito, I, Ebenezer, N, Mah, TS, Bhattacharya, SS

Publikováno v: Gorin, MB; Hardcastle, AJ; Thiselton, DL; Zito, I; Ebenezer, N; Mah, TS; et al.(2017). Evidence for a New Locus for X-Linked Retinitis Pigmentosa (RP23). UCLA: Retrieved from: http://www.escholarship.org/uc/item/1bp1r0sx

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5f88fc4b508df51cd5e52b849597bf9f
https://escholarship.org/uc/item/1bp1r0sx

OP02. NOVEL DNA METHYLATION LANDSCAPE OF METASTATIC COLORECTAL CANCER REVEALS SIGNIFICANT EPIGENETIC REGULATION OF DISEASEASSOCIATED ENHANCER REGIONS

Autor: Cosgrove, Donna, Whitton, L, Donohoe, G, Morris, DW, Das, Sudipto, Moran, B, Smeets, D, Kel, A, George, S, Van Brussel, T, Peutman, G, Klinger, R, Fender, B, Connor, K, Ebert, M, Gaiser, T, Prehn, JHM, Bacon, O, Kay, E, Hennessy, B, Murphy, V, Byrne, A, Gallagher, WM, Lambrechts, D, O’Connor, D, Murphy, Therese M, Crawford, B, Craig, Z, Mansell, G, White, I, Smith, A, Spaull, S, Imm, J, Hannon, E, Wood, A, Yaghootkar, H, Ji, Y, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Mullins, N, Lewis, CM, Mill, J, Shortall, Ciara, Palfi, A, Chadderton, N, Kenna, PF, Carrigan, M, Boomkamp, S, Shen, S, Hardcastle, AJ, Farrar, GJ, Walsh, Naomi, Nelson, S, Zhang, H, Stolzenberg-Solomon, R, Patrick Byrne, Ross, van Rheenen, W, van den Berg, LH, Veldink, JH, McLaughlin, RL, Cassidy, Lara, Bradley, D, Gunne, Emer, Ward, A, Treacy, E, Lambert, D, Lynch, SA, Kostocenko, Marija, Lang, N, Clark, T, Barton, DE, McVeigh, Terri, Kelly, LJ, Whitmore, E, Mullaney, B, Savage, Sarah, Rakovac-Tisdall, A, Rasheed, E, Mac Namara, B, Keogh, E, O’Connor, P, Durkan, M, Maher, V, Griffin, D, MacAdam, B, Vaughan, C, Ryan, M, Heggarty, S, Hart, P, Crowley, VEF, Mullaney, Brendan, McQuaid, S, O’Brien, C, McDevitt, T, Brosnan, K, Logan, Peter, Byrne, C, Scott, J, Dabir, T, Amenyah, Sophia.D, McMahon, A, Ward, M, Deane, J, McNulty, H, Hughes, CF, Strain, JJ, Horigan, G, Purvis, J, Walsh, CP, Lees-Murdock, DJ, Anderson, Kerry, Cañadas-Garre, M, Maxwell, AP, McKnight, AJ, Angel, Zoe, McKenna, DJ, Ariano, Bruno, Mattiangeli, V, Cassidy, LM, McLaughlin, TR, Power, RK, Stock, JT, Mercieca-Spiteri, B, Stoddart, S, Malone, C, Bradley, DG, Atkinson, Sarah D, Campbell, N, Windrum, L, Hassett, P, Bjourson, AJ, Breslin, Emily, Martiniano, R, Silva, AM, Campbell, Ciaran, McCormack, M, Stapleton, C, the EpiPGX Consortium CP Doherty, Delanty, N, Cavalleri, GL, Cooke, Niall, Nakagome, S, D’Cruz, Leon.G, McEleney, K, Tan, K.B.C, Cobice, D, Dobbins, S, Tahanver, A, McLaughlin, C, Conway, C, Small, D, Connolly, C, Gardiner, P, Gibson, D, Flynn, Mairead, Gill, M, Corvin, A, Morris, D, Morrison, CG, Gilbert, Edmund, O’Reilly, S, Merrigan, M, McGettingan, D, Vitart, V, Joshi, PK, Clark, DW, Campbell, H, Hayward, C, Ring, S, Golding, J, Timpson, N, Navarro, P, Kerr, SM, Amador, C, Campbell, A, Haley, CS, Porteous, DJ, Wilson, JF, McNicholas, Áine, Cosgrove, D, Mothersill, DO, Holleran, L, Holland, J, Dauvermann, M, Salter-Townshend, Michael, Myers, SR, Stapleton, Caragh P, On behalf of the UK and Ireland Renal Transplant Consortium, Conlon, PJ, Villikudathil, Angelina T, McGuigan, D, English, A, C, Kelly, McClean, P, Bjourson, T, Shukla, P, Walsh, Darren J, Parle-McDermott, A, Whitton, Laura, Pardinas, A, Walters, J, Yesmambetov, Adlet, Kenna, P, O’Connor, D P, Zang, Jinnan, Simpson, DA, McKay, GJ, Crowley, Vivion, Walsh, E, Abdelfadil, S, Savage, S, MacNamara, B, McKiernan, S, Pazsderska, A, Murphy, R, McCarroll, K, D’Cruz, Leon G, Husain, SA, Yousef, Z, Edkins, S, Ashelford, K, Lai, FA, Duff, Marie, Cody, N, Clabby, C, McVeigh, TP, Green, AJ, Hengeveld, Jennifer, Doherty, MA, Dupuis, L, Vajda, A, Heverin, M, Hardiman, O, Lang, Niamh, O’Byrne, JJ, Kelly, RM, McKenna, Caoimhe, Morrison, P, Lakhanpaul, M, Saxena, N, Dabir, TA, Jones, J, Smith, G, Morrison, PJ, Znaczko, A, Hurrell, D, Donnelly, D, Al Shehhii, M, Jones, E. A., Murray, A, Wedderburn, S, Porteous, M, McVeigh, Úna M, Miller, N, Kerin, MJ, Ghrálaigh, Fiana Ní, Kenny, E, Gallagher, L, Lopez, LM, O’Byrne, James J, Byrne, N, Tapiea, D, Abidin, Z, Pastores, GM, Treacy, EP, Sasaki, Erina, McVeigh, T, O’Hici, B, O’Connell, S, Betts, D, McArdle, L, Hegarty, A, Gill, H, Flanagan, O, McMahon, C, Bradley, L, Scott, Janice, Martin, R, Logan, P, Ward, Alana, Giffney, C, Peyton, C, Turner, J, White, N, Znaczko, Anna, Benson, Katherine A, Kennedy, C, Murray, S, Conlon, P, Dwane, Lisa, Das, S, O’Connor, A E, Mulrane, L, Dirac, A M, Mooney, B, Jirstrom, K, Crown, J P, Bernards, R, Gallagher, W M, Ní Chonghaile, T

Publikováno v: The Ulster Medical Journal

Myocyte enhancer factor 2 C (MEF2C) is a transcription factor that plays a central role regulating cell differentiation, proliferation, survival and apoptosis. MEF2C has been implicated in each of the most recent GWAS of cognitive ability (CA) and ed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::696620cc9e9e6755a0ff119845fdcc13
http://europepmc.org/articles/PMC6342039

Absence of CHRDL1 and FOXC1 sequence changes in two brothers with Megalocornea-Mental Retardation Syndrome

Autor: Gebril Oh, Cheong Ss, Abdelraouf Er, Elsaied M, Eid, Hardcastle Aj

Publikováno v: Journal of Neurology, Neurological Science and Disorders. 3:028-032

Megalocornea is a defi ning feature of megalocornea-mental retardation (MMR) syndromealso calledNeuhauser syndrome, a rare condition of unknown etiology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cfb8e9c19f469ff3c624f1bd0cd9fce4
https://doi.org/10.17352/jnnsd.000017

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

Autor: Fiorentino, A, Yu, J, Arno, G, Pontikos, N, Halford, S, Broadgate, S, Michaelides, M, Carss, KJ, Raymond, FL, Cheetham, ME, Webster, AR, Downes, SM, Hardcastle, AJ, NIHR-BioResource Rare Diseases Consortium, UK Inherited Retinal Dystrophy Consortium

Purpose: Mutations in ARL2BP, encoding ADP-ribosylation factor-like 2 binding protein, have recently been implicated as a cause of autosomal recessive retinitis pigmentosa (arRP), with three homozygous variants identified to date. In this study, we p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b9d566cf575589e7b41412cd5ddef97b
https://ora.ox.ac.uk/objects/uuid:b0b9b9f3-e06b-497f-90f9-91985dabb436