Results 41 to 50 of about 5,077 (218)

Downstream events initiated by expression of FSHD-associated DUX4: Studies of nucleocytoplasmic transport, γH2AX accumulation, and Bax/Bak-dependence

Biology Open, 2022
Abnormal expression in skeletal muscle of the double homeobox transcription factor DUX4 underlies pathogenesis in facioscapulohumeral muscular dystrophy (FSHD). Though multiple changes are known to be initiated by aberrant DUX4 expression, the downstream
Isabel F. Masteika, Anvitha Sathya, Sachiko Homma, Bess M. Miller, Frederick M. Boyce, Jeffrey Boone Miller   +5 more
doaj   +1 more source

Genome wide analysis of gene expression changes in skin from patients with type 2 diabetes [PDF]

, 2020
Non-healing chronic ulcers are a serious complication of diabetes and are a major healthcare problem. While a host of treatments have been explored to heal or prevent these ulcers from forming, these treatments have not been found to be consistently ...
A Avogaro, A Gaultier, A Le Guelte, A Magli, AA Anderson, AE Rodríguez-Fraticelli, AJ Monteforte, B Shu, BG Seligman, C Ling, C Margadant, C Ozbayer, C Shi, C Tian, C Ung, C Vanderplanck, C Wu, D Bosnakovski, D Bosnakovski, D Karthik, D Lazzaro, DJ Mangelsdorf, DM D'Souza, DS Frankel, E Ansseau, E Ansseau, E Nilsson, EA Coon, EA Malt, EM Small, F Gragnano, F Guan, G Theocharidis, G. Said, GH Wong, GJ Berry, GJ Berry, GL Bellot, GV Gnoni, H Andersen, H Brem, HA Ramirez, I Bettahi, I Bettahi, I Chakroun, I Gottfried, IN Vial, J Thimmarayappa, J Xu, J Yan, JB Rice, JC Corton, JG Van Vranken, JS Hansen, K Blackburn, KM Popov, L Nasarre, L Tan, LA Berchtold, LE Reynolds, M Gupta, M Wight, MA Faghihi, MK Montgomery, MR Tanner, MR Tanner, N Schonrock, N Takagi, NY Yoshihito Nogusa, P Hebbar, P Rajendran, PJ Batista, PM Mannucci, RB Tajhya, RC Pink, RN Weijers, RS Kaplan, RS Kiss, S Baldari, S Barrientos, S Das, S Das, S Lambert, S Rovira-Llopis, S Roy, S Sethumadhavan, SM Weis, SS Kulkarni, SV Suryavanshi, SY Park, T Fujiwara, T Khalfaoui, T Thiruvoipati, T Wang, T-H Wang, TT Hien, V Iacobazzi, V Miragliotta, VV Sinyov, W Meng, WI Sivitz, WM Longmate, WM Longmate, X Shi, X Wang, X Xie, X Yuan, X Zhao, X Zhao, Y Cai, Y Carrier, Y Chen, Y Gu, Y Konishi, Y Liu, Y Wang, Y-T Chen, Y-Y Hsieh, Z Jiang, Z-X Meng, ZKK Lawi   +120 more
core   +1 more source

Deregulation of DUX4 and ERG in acute lymphoblastic leukemia [PDF]

Nature Genetics, 2016
Chromosomal rearrangements deregulating hematopoietic transcription factors are common in acute lymphoblastic leukemia (ALL).1,2 Here, we show that deregulation of the homeobox transcription factor gene DUX4 and the ETS transcription factor gene ERG are hallmarks of a subtype of B-progenitor ALL that comprises up to 7% of B-ALL.
Cheryl L. Willman, Debbie Payne-Turner, Kelly McCastlain, Selina M. Luger, Charles Lu, Xiang Chen, Robert S. Fulton, I-Ming L. Chen, Mary V. Relling, Ji Wen, Michael N. Edmonson, Yongjin Li, Guangchun Song, Pankaj Gupta, Guido Marcucci, Deqing Pei, Krzysztof Mrózek, Matthew C. Foster, Charles G. Mullighan, Yashodhan Tabib, Kerstin B. Kaufmann, Kerri Ochoa, Elisabeth Paietta, Iannis Aifantis, Iannis Aifantis, James R. Downing, Panagiotis Ntziachristos, Richard C. Harvey, Michelle L. Churchman, Lucinda Fulton, Jingjing Wang, Yanling Liu, Ilaria Iacobucci, Chunxu Qu, Cheng Cheng, Michael Rusch, Yu Liu, Wendy Stock, Jessica Kohlschmidt, Gang Wu, Bhavin Vadodaria, Martin S. Tallman, Stephen P. Hunger, Jun J. Yang, William E. Evans, John Easton, James Dalton, Erno Wienholds, Janis Racevskis, Yunchao Chang, Lei Wei, Sima Jeha, Heather L. Mulder, Hiroki Yoshihara, Jing Ma, Sheila A. Shurtleff, Richard K. Wilson, Xiaotu Ma, Susana C. Raimondi, Shin-ichiro Takayanagi, Shin-ichiro Takayanagi, Jinghui Zhang, Kristy Boggs, Clara D. Bloomfield, Esmé Waanders, Esmé Waanders, Li Ding, Marcus L Valentine, Kathryn G. Roberts, Elaine R. Mardis, Scott Newman, Steven M. Kornblau, Beisi Xu, Sofia Bakogianni, John E. Dick, Jacob M. Rowe, Mignon L. Loh, Ching-Hon Pui, Meenakshi Devidas   +78 more
openaire   +5 more sources

High PDGFRA expression does not serve as an effective therapeutic target in ERG-deleted b-cell precursor acute lymphoblastic leukemia [PDF]

, 2017
Background: Macrosatellite repeats (MSRs), usually spanning hundreds of kilobases of genomic DNA, comprise a significant proportion of the human genome.
Beverloo, H.B. (Berna), Boer, J.M.A. (Jolanda), Boer, M.L. (Monique) den, Chatzivasileiou, D. (Danai), Hoogkamer, A.Q. (Alex Q.), Jerchel, I.S. (Isabel S.), Pieters, R. (Rob)   +6 more
core   +9 more sources

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence [PDF]

Trends in Molecular Medicine, 2011
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) has an unusual pathogenic mechanism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chromosome 4q. Recent studies provide compelling evidence that a retrotransposed gene in the D4Z4 repeat, DUX4, is expressed in the human germline and then
Maarel, S.M. van der, Tawil, R., Tapscott, S.J.   +2 more
openaire   +3 more sources

Antagonism Between DUX4 and DUX4c Highlights a Pathomechanism Operating Through β-Catenin in Facioscapulohumeral Muscular Dystrophy

Frontiers in Cell and Developmental Biology, 2022
Aberrant expression of the transcription factor DUX4 from D4Z4 macrosatellite repeats on chromosome 4q35, and its transcriptome, associate with pathogenesis in facioscapulohumeral muscular dystrophy (FSHD).
Massimo Ganassi, Nicolas Figeac, Magalie Reynaud, Huascar Pedro Ortuste Quiroga, Peter S. Zammit   +4 more
doaj   +1 more source

The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy

Current Opinion in Neurology, 2020
Purpose of reviewFacioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder, which is caused by incomplete repression of the transcription factor double homeobox 4 (DUX4) in skeletal muscle. To date, there is no DUX4-targeting treatment to prevent or delay disease progression.
Bouwman, L.F., Maarel, S.M. van der, Greef, J.C. de   +2 more
openaire   +5 more sources

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

386. Toxicology for DUX4-Targeted MicroRNAs [PDF]

Molecular Therapy, 2016
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder affecting 1 in 7500. Symptoms typically arise in young adulthood and most patients show clinical features before age 30. FSHD is characterized by progressive wasting and weakness of facial and shoulder-girdle muscles, though all skeletal muscle can be affected.
Lindsay M. Wallace, Jacqueline S. Domire, Danielle A. Griffin, Scott Q. Harper, Louise R. Rodino-Klapac   +4 more
openaire   +2 more sources

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