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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Autor: Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E.

Publikováno v: Movement Disorders; Jan2024, Vol. 39 Issue 1, p141-151, 11p

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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

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Autor: Lucy Loong, Cankut Cubuk, Subin Choi, Sophie Allen, Beth Torr, Alice Garrett, Chey Loveday, Miranda Durkie, Alison Callaway, George J. Burghel, James Drummond, Rachel Robinson, Ian R. Berry, Andrew Wallace, Diana M. Eccles, Marc Tischkowitz, Sian Ellard, James S. Ware, Helen Hanson, Clare Turnbull, S. Samant, A. Lucassen, A. Znaczko, A. Shaw, A. Ansari, A. Kumar, A. Donaldson, A. Murray, A. Ross, A. Taylor-Beadling, A. Taylor, A. Innes, A. Brady, A. Kulkarni, A.-C. Hogg, A. Ramsay Bowden, A. Hadonou, B. Coad, B. McIldowie, B. Speight, B. DeSouza, B. Mullaney, C. McKenna, C. Brewer, C. Olimpio, C. Clabby, C. Crosby, C. Jenkins, C. Armstrong, C. Bowles, C. Brooks, C. Byrne, C. Maurer, D. Baralle, D. Chubb, D. Stobo, D. Moore, D. O'Sullivan, D. Donnelly, D. Randhawa, D. Halliday, E. Atkinson, E. Baple, E. Rauter, E. Johnston, E. Woodward, E. Maher, E. Sofianopoulou, E. Petrides, F. Lalloo, F. McRonald, F. Pelz, I. Frayling, G. Evans, G. Corbett, G. Rea, H. Clouston, H. Powell, H. Williamson, H. Carley, H.J.W. Thomas, I. Tomlinson, J. Cook, J. Hoyle, J. Tellez, J. Whitworth, J. Williams, J. Murray, J. Campbell, J. Tolmie, J. Field, J. Mason, J. Burn, J. Bruty, J. Callaway, J. Grant, J. Del Rey Jimenez, J. Pagan, J. VanCampen, J. Barwell, K. Monahan, K. Tatton-Brown, K.-R. Ong, K. Murphy, K. Andrews, K. Mokretar, K. Cadoo, K. Smith, K. Baker, K. Brown, K. Reay, K. McKay Bounford, K. Bradshaw, K. Russell, K. Stone, K. Snape, L. Crookes, L. Reed, L. Taggart, L. Yarram, L. Cobbold, L. Walker, L. Hawkes, L. Busby, L. Izatt, L. Kiely, L. Hughes, L. Side, L. Sarkies, K.-L. Greenhalgh, M. Shanmugasundaram, M. Duff, M. Bartlett, M. Watson, M. Owens, M. Bradford, M. Huxley, M. Slean, M. Ryten, M. Smith, M. Ahmed, N. Roberts, C. O'Brien, O. Middleton, P. Tarpey, P. Logan, P. Dean, P. May, P. Brace, R. Tredwell, R. Harrison, R. Hart, R. Kirk, R. Martin, R. Nyanhete, R. Wright, R. Davidson, R. Cleaver, S. Talukdar, S. Butler, J. Sampson, S. Ribeiro, S. Dell, S. Mackenzie, S. Hegarty, S. Albaba, S. McKee, S. Palmer-Smith, S. Heggarty, S. MacParland, S. Greville-Heygate, S. Daniels, S. Prapa, S. Abbs, S. Tennant, S. Hardy, S. MacMahon, T. McVeigh, T. Foo, T. Bedenham, T. Cranston, T. McDevitt, V. Clowes, V. Tripathi, V. McConnell, N. Woodwaer, Y. Wallis, Z. Kemp, G. Mullan, L. Pierson, L. Rainey, C. Joyce, A. Timbs, A.-M. Reuther, B. Frugtniet, C. Husher, C. Lawn, C. Corbett, D. Nocera-Jijon, D. Reay, E. Cross, F. Ryan, H. Lindsay, J. Oliver, J. Dring, J. Spiers, J. Harper, K. Ciucias, L. Connolly, M. Tsang, R. Brown, S. Shepherd, S. Begum, T. Tadiso, T. Linton-Willoughby, H. Heppell, K. Sahan, L. Worrillow, Z. Allen, M. Barlett, C. Watt, M. Hegarty

Publikováno v: Loong, L, Cubuk, C, Choi, S, Allen, S, Torr, B, Garrett, A, Loveday, C, Durkie, M, Callaway, A, Burghel, GJ, Drummond, J, Robinson, R, Berry, IR, Wallace, A & CanVIG-UK 2021, ' Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants. ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 3, pp. 552-563 . https://doi.org/10.1016/j.gim.2021.11.011

Purpose: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a638418e559b935daf78b3ef4e1f05a
http://hdl.handle.net/10044/1/95227