MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

Autor: Flower, Michael, Lomeilkaite, Vilila, Ciosi, Marc, Cumming, Sarah, Morales, Fernando, Lo, Kitty, Hensman Moss, Davina, Jones, Lesley, Holmans, Peter, Monckton, Darren G., Tabrizi, Sarah J., Kraus, Peter, Hoffman, Rainer, Tobin, Alan, Borowsky, Beth, Keenan, S., Whitlock, Kathryn B., Queller, Sarah, Campbell, Colin, Wang, Chiachi, Langbehn, Doug, Axelson, Eric, Johnson, Hans, Acharya, Tanka, Cash, Dave M., Frost, Chris, Jones, Rebecca, Jurgens, Caroline, ‘t Hart, Ellen P., van der Grond, Jeroen, Witjes- Ane, Marie-Noelle N., Roos, Raymund A. C., Dumas, Eve M., van den Bogaard, Simon J. A., Stopford, Cheryl, Craufurd, David, Callaghan, Jenny, Arran, Natalie, Rosas, Diana D., Lee, S., Monaco, W., O’Regan, Alison, Milchman, Cassie, Frajman, E., Labuschagne, Izelle, Stout, Julie, Campbell, Melissa, Andrews, Sophie C., Bechtel, Natalie, Reilmann, Ralf, Bohlen, Stefan, Kennard, Chris, Berna, Claire, Hicks, Stephen, Durr, Alexandra, Pourchot, C., Bardinet, Eric, Nigaud, Kevin, Valabre`gue, Romain, Lehericy, Stephane, Marelli, Cecilia, Jauffret, Celine, Justo, Damian, Leavitt, Blair, Decolongon, Joji, Sturrock, Aaron, Coleman, Alison, Dar Santos, Rachelle, Patel, A., Gibbard, Claire, Whitehead, Daisy, Wild, Ed, Owen, Gail, Crawford, Helen, Malone, Ian, Lahiri, Nayana, Fox, Nick C., Hobbs, Nicola Z., Scahill, Rachael I., Ordidge, Roger, Pepple, Tracey, Read, Joy, Say, Miranda J., Landwehrmeyer, Bernhard, Daidj, Ferroudja, Bassez, Guillaume, Lignier, Baptiste, Couppey, Florence, Delmas, Stéphanie, Deux, Jean-François, Hankiewicz, Karolina, Dogan, Celine, Minier, Lisa, Chevalier, Pascale, Hamadouche, Amira, Catt, Michael, van Hees, Vincent, Catt, Sharon, Schwalber, Ameli, Dittrich, Juliane, Kierkegaard, Marie, Wenninger, Stephan, Schoser, Benedikt, Schüller, Angela, Stahl, Kristina, Künzel, Heike, Wolff, Martin, Jellinek, Anna, Moreno, Cecilia Jimenez, Gorman, Grainne, Lochmüller, Hanns, Trenell, Michael, van Laar, Sandra, Wood, Libby, Cassidy, Sophie, Newman, Jane, Charman, Sarah, Steffaneti, Renae, Taylor, Louise, Brownrigg, Allan, Day, Sharon, Atalaia, Antonio, Raaphorst, Joost, Okkersen, Kees, Engelen, Baziel van, Nikolaus, Stephanie, Cornelissen, Yvonne, van Nimwegen, Marlies, Maas, Daphne, Klerks, Ellen, Bouman, Sacha, Knoop, Hans, Heskamp, Linda, Heerschap, Arend, Rahmadi, Ridho, Groot, Perry, Heskes, Tom, Kapusta, Katarzyna, Glennon, Jeffrey, Abghari, Shaghayegh, Aschrafi, Armaz, Poelmans, Geert, Treweek, Shaun, Hogarth, Fiona, Littleford, Roberta, Donnan, Peter, Hapca, Adrian, Hannah, Michael, McKenzie, Emma, Rauchhaus, Petra, Cumming, Sarah A., Adam, Berit, Faber, Catharina, Merkies, Ingemar, TRACK-HD Investigators, OPTIMISTIC Consortium

Publikováno v: Brain, vol. 142(7), 1876-1886
Kérwá
Universidad de Costa Rica
instacron:UCR
Brain, 142(7), 1876-1886. Oxford University Press
Brain

A genome-wide association study recently identified an MSH3/DHFR locus associated with Huntington’s disease progression. Flower, Lomeikaite et al. identify tandem repeat variants at this locus, and show that a three-repeat allele is associated with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a993f06f218cfd69be5c9eb70d0d09
https://doi.org/10.1093/brain/awz115