Results 41 to 50 of about 5,232 (224)

Human miRNA miR-675 inhibits DUX4 expression and may be exploited as a potential treatment for Facioscapulohumeral muscular dystrophy

Nature Communications, 2021
Facioscapulohumeral muscular dystrophy is a myopathy caused by aberrant de-repression of the DUX4 gene. Here, the authors show that miR-675 inhibits DUX4 expression and protects muscles from DUX4-mediated cell death when administered to mice using AAV ...
Nizar Y. Saad, Mustafa Al-Kharsan, Sara E. Garwick-Coppens, Gholamhossein Amini Chermahini, Madison A. Harper, Andrew Palo, Ryan L. Boudreau, Scott Q. Harper   +7 more
doaj   +1 more source

Transcription factor 12‐mediated self‐feedback regulatory mechanism is required in DUX4 fusion leukaemia

Clinical and Translational Medicine, 2023
Background IGH::DUX4 is frequently observed in 4% B‐cell acute lymphoblastic leukaemia patients. Regarding the IGH::DUX4‐driven transactivation and alternative splicing, which are the main reasons behind this acute leukaemia outbreak, it remains unclear ...
Zhihui Li, Minghao Jiang, Junfei Wang, Zhiyi Zhuo, Shiyan Zhang, Yangxia Tan, Weiguo Hu, Hao Zhang, Guoyu Meng   +8 more
doaj   +1 more source

DUX4 expression in cancer induces a metastable early embryonic totipotent program

Cell Reports, 2023
Summary: The transcription factor DUX4 regulates a portion of the zygotic gene activation (ZGA) program in the early embryo. Many cancers express DUX4 but it is unknown whether this generates cells similar to early embryonic stem cells.
Andrew A. Smith, Yee Nip, Sean R. Bennett, Danielle C. Hamm, Richard J.L.F. Lemmers, Patrick J. van der Vliet, Manu Setty, Silvère M. van der Maarel, Stephen J. Tapscott   +8 more
doaj   +1 more source

DUX4 is a multifunctional factor priming human embryonic genome activation

iScience, 2022
Summary: Double homeobox 4 (DUX4) is expressed at the early pre-implantation stage in human embryos. Here we show that induced human DUX4 expression substantially alters the chromatin accessibility of non-coding DNA and activates thousands of newly ...
Sanna Vuoristo, Shruti Bhagat, Christel Hydén-Granskog, Masahito Yoshihara, Lisa Gawriyski, Eeva-Mari Jouhilahti, Vipin Ranga, Mahlet Tamirat, Mikko Huhtala, Ida Kirjanov, Sonja Nykänen, Kaarel Krjutškov, Anastassius Damdimopoulos, Jere Weltner, Kosuke Hashimoto, Gaëlle Recher, Sini Ezer, Priit Paluoja, Pauliina Paloviita, Yujiro Takegami, Ai Kanemaru, Karolina Lundin, Tomi T. Airenne, Timo Otonkoski, Juha S. Tapanainen, Hideya Kawaji, Yasuhiro Murakawa, Thomas R. Bürglin, Markku Varjosalo, Mark S. Johnson, Timo Tuuri, Shintaro Katayama, Juha Kere   +32 more
doaj   +1 more source

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]

, 2017
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed, A McKenna, A-V Gendrel, A-V Gendrel, Abdelaziz Sefiani, Alex C Magee, Alexandra D Gurzau, Asif Javed, Audrey S M Teo, AW Mould, Axel M Hillmer, B Brasseur, Bernd Wollnik, Bruno Reversade, C Bock, Camille Dion, Carine Bonnard, Chalermpong Chatdokmaiprai, Christine Bole-Feysot, Christopher T Gordon, Denise Williams, Dieter Meschede, Duangrurdee Wattanasirichaigoon, F Magdinier, Frédérique Magdinier, GA Van der Auwera, Gökhan Tunçbilek, Gökhan Yigit, H Coker, H Li, H Mishima, Hallvard Reigstad, Hicham Filali, HL Szabo-Rogers, Holger Thiele, Hülya Kayserili, IA Adzhubei, Ilham Ratbi, J Harrow, James M Murphy, Janine Altmüller, JB Tryggestad, JC de Greef, JD Thompson, JE Hewitt, Jeanne Amiel, JM Graham Jr., K Chen, K Chen, K Wang, Kelan Chen, Koh-ichiro Yoshiura, L-C Li, LA Kelley, M Tang, M-C Gaillard, M-C Gaillard, MA DePristo, Marnie E Blewitt, MD Nickell, ME Blewitt, Meriem Fikri, Michael L Cunningham, Mung Kei Kong, Myriam Oufadem, N Rosin, Nadine Rosin, Nawfal Fejjal, Nicola Ragge, Nicolas Lévy, NJ Brideau, Nobuhiko Okamoto, NS Verkaik, P Flicek, P Kumar, Patrick Nitschké, PE Forni, Peter Nürnberg, R Dutta, R-S Nozawa, Rachel Irving, RJLF Lemmers, RJLF Lemmers, RJLF Lemmers, Ruth McGowan, S Faisal Ahmed, S Sacconi, Sabine Sigaudy, Shifeng Xue, Siham Chafai Elalaoui, ST Sherry, Stanislas Lyonnet, Tamara J Beck, Vinod Varghese, Wolfgang Mühlbauer, X Liu, X Liu, X Robert   +97 more
core   +3 more sources

Human DUX4 and mouse Dux interact with STAT1 and broadly inhibit interferon-stimulated gene induction

eLife, 2023
DUX4 activates the first wave of zygotic gene expression in the early embryo. Mis-expression of DUX4 in skeletal muscle causes facioscapulohumeral dystrophy (FSHD), whereas expression in cancers suppresses IFNγ induction of major histocompatibility ...
Amy E Spens, Nicholas A Sutliff, Sean R Bennett, Amy E Campbell, Stephen J Tapscott   +4 more
doaj   +1 more source

Proximity ligation assay to detect DUX4 protein in FSHD1 muscle: a pilot study

BMC Research Notes, 2022
Objective Aberrant expression in skeletal muscle of DUX4, a double homeobox transcription factor, underlies pathogenesis in facioscapulohumeral muscular dystrophy (FSHD).
Mary Lou Beermann, Sachiko Homma, Jeffrey Boone Miller   +2 more
doaj   +1 more source

Telomere Position Effect (TPE) Regulates DUX4 in Human Facioscapulohumeral Muscular Dystrophy (FSHD) [PDF]

, 2014
Telomeres may regulate human disease by at least two independent mechanisms. 1) Replicative senescence occurs once short telomeres generate DNA damage signals that produce a barrier to tumor progression.
Chen, Jennifer C. J., Emerson, Charles P., King, Oliver D., Rahimov, Fedik, Robin, Jerome D., Shay, Jerry W., Stadler, Guido, Wagner, Kathryn R., Wright, Woodring E.   +8 more
core   +1 more source

miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies [PDF]

, 2015
International audienceBackground :Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disorder and is one of the most common forms of muscular dystrophy. We have recently shown that some hallmarks of FSHD are already expressed in fetal
Butler-Browne, Gillian, Corrêa De Santana, Eliane, Dumonceaux, Julie, Harel-Bellan, Annick, Kratassiouk, Gueorgui, Magdinier, Frédérique, Mouly, Vincent, Polesskaya, Anna, Portilho, Débora, Ribeiro Alves, Marcelo, Roche, Stéphane, Savino, Wilson   +11 more
core   +10 more sources

Multiple protein domains contribute to nuclear import and cell toxicity of DUX4, a candidate pathogenic protein for facioscapulohumeral muscular dystrophy. [PDF]

PLoS ONE, 2013
DUX4 (Double Homeobox Protein 4) is a nuclear transcription factor encoded at each D4Z4 unit of a tandem-repeat array at human chromosome 4q35. DUX4 constitutes a major candidate pathogenic protein for facioscapulohumeral muscular dystrophy (FSHD), the ...
Edgardo Daniel Corona, Daniela Jacquelin, Laura Gatica, Alberto Luis Rosa   +3 more
doaj   +1 more source