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https://www.readbyqxmd.com/read/27906075/nuclear-bodies-reorganize-during-myogenesis-in-vitro-and-are-differentially-disrupted-by-expression-of-fshd-associated-dux4
#1
Sachiko Homma, Mary Lou Beermann, Bryant Yu, Frederick M Boyce, Jeffrey Boone Miller
BACKGROUND: Nuclear bodies, such as nucleoli, PML bodies, and SC35 speckles, are dynamic sub-nuclear structures that regulate multiple genetic and epigenetic processes. Additional regulation is provided by RNA/DNA handling proteins, notably TDP-43 and FUS, which have been linked to ALS pathology. Previous work showed that mouse cell line myotubes have fewer but larger nucleoli than myoblasts, and we had found that nuclear aggregation of TDP-43 in human myotubes was induced by expression of DUX4-FL, a transcription factor that is aberrantly expressed and causes pathology in facioscapulohumeral dystrophy (FSHD)...
December 1, 2016: Skeletal Muscle
https://www.readbyqxmd.com/read/27898077/corrigendum-recurrent-dux4-fusions-in-b-cell-acute-lymphoblastic-leukemia-of-adolescents-and-young-adults
#2
Takahiko Yasuda, Shinobu Tsuzuki, Masahito Kawazu, Fumihiko Hayakawa, Shinya Kojima, Toshihide Ueno, Naoto Imoto, Shinji Kohsaka, Akiko Kunita, Koichiro Doi, Toru Sakura, Toshiaki Yujiri, Eisei Kondo, Katsumichi Fujimaki, Yasunori Ueda, Yasutaka Aoyama, Shigeki Ohtake, Junko Takita, Eirin Sai, Masafumi Taniwaki, Mineo Kurokawa, Shinichi Morishita, Masashi Fukayama, Hitoshi Kiyoi, Yasushi Miyazaki, Tomoki Naoe, Hiroyuki Mano
No abstract text is available yet for this article.
November 29, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27879517/dux4-immunohistochemistry-is-a-highly-sensitive-and-specific-marker-for-cic-dux4-fusion-positive-round-cell-tumor
#3
Bradford Siegele, Jon Roberts, Jennifer O Black, Erin Rudzinski, Sara O Vargas, Csaba Galambos
The histologic differential diagnosis of pediatric and adult round cell tumors is vast and includes the recently recognized entity CIC-DUX4 fusion-positive round cell tumor. The diagnosis of CIC-DUX4 tumor can be suggested by light microscopic and immunohistochemical features, but currently, definitive diagnosis requires ancillary genetic testing such as conventional karyotyping, fluorescence in situ hybridization, or molecular methods. We sought to determine whether DUX4 expression would serve as a fusion-specific immunohistochemical marker distinguishing CIC-DUX4 tumor from potential histologic mimics...
November 22, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27816329/a-complex-interplay-of-genetic-and-epigenetic-events-leads-to-abnormal-expression-of-the-dux4-gene-in-facioscapulohumeral-muscular-dystrophy
#4
REVIEW
Laura Virginia Gatica, Alberto Luis Rosa
Facioscapulohumeral muscular dystrophy (FSHD), a prevalent inherited human myopathy, develops following a complex interplay of genetic and epigenetic events. FSHD1, the more frequent genetic form, is associated with: (1) deletion of an integral number of 3.3 Kb (D4Z4) repeated elements at the chromosomal region 4q35, (2) a specific 4q35 subtelomeric haplotype denominated 4qA, and (3) decreased methylation of cytosines at the 4q35-linked D4Z4 units. FSHD2 is most often caused by mutations at the SMCHD1 (Structural Maintenance of Chromosomes Hinge Domain 1) gene, on chromosome 18p11...
September 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27815298/dux4-rearrangement-and-erg-deregulation-characterize-a-b-all-subtype
#5
(no author information available yet)
ERG deregulation by deletion or expression of a dominant-negative transcript drives a subset of B-ALL.
November 4, 2016: Cancer Discovery
https://www.readbyqxmd.com/read/27790742/the-utility-of-etv1-etv4-and-etv5-rna-in-situ-hybridization-in-the-diagnosis-of-cic-dux4-sarcomas
#6
Steven C Smith, Nallasivam Palanisamy, Elizabeth Martin, Jorge Almenara, Jonathan B McHugh, Eun-Young Karen Choi, David R Lucas, Bryan L Betz, Dafydd Thomas, Rajiv M Patel
AIMS: A recently characterized group of undifferentiated small round cell sarcomas harbours fusions of the genes CIC and DUX4. Studies report a distinctive gene expression profile for these sarcomas, including expression of E26 transformation specific (ETS)-family protooncogenic transcription factors ETV1, ETV4, and ETV5. To test the utility of an ancillary diagnostic technique for these tumors, we evaluated chromogenic RNA in situ hybridization assays for ETV1, ETV4, and ETV5, as diagnostic adjuncts for this emerging group of highly malignant sarcomas...
October 27, 2016: Histopathology
https://www.readbyqxmd.com/read/27776115/deregulation-of-dux4-and-erg-in-acute-lymphoblastic-leukemia
#7
Jinghui Zhang, Kelly McCastlain, Hiroki Yoshihara, Beisi Xu, Yunchao Chang, Michelle L Churchman, Gang Wu, Yongjin Li, Lei Wei, Ilaria Iacobucci, Yu Liu, Chunxu Qu, Ji Wen, Michael Edmonson, Debbie Payne-Turner, Kerstin B Kaufmann, Shin-Ichiro Takayanagi, Erno Wienholds, Esmé Waanders, Panagiotis Ntziachristos, Sofia Bakogianni, Jingjing Wang, Iannis Aifantis, Kathryn G Roberts, Jing Ma, Guangchun Song, John Easton, Heather L Mulder, Xiang Chen, Scott Newman, Xiaotu Ma, Michael Rusch, Pankaj Gupta, Kristy Boggs, Bhavin Vadodaria, James Dalton, Yanling Liu, Marcus L Valentine, Li Ding, Charles Lu, Robert S Fulton, Lucinda Fulton, Yashodhan Tabib, Kerri Ochoa, Meenakshi Devidas, Deqing Pei, Cheng Cheng, Jun Yang, William E Evans, Mary V Relling, Ching-Hon Pui, Sima Jeha, Richard C Harvey, I-Ming L Chen, Cheryl L Willman, Guido Marcucci, Clara D Bloomfield, Jessica Kohlschmidt, Krzysztof Mrózek, Elisabeth Paietta, Martin S Tallman, Wendy Stock, Matthew C Foster, Janis Racevskis, Jacob M Rowe, Selina Luger, Steven M Kornblau, Sheila A Shurtleff, Susana C Raimondi, Elaine R Mardis, Richard K Wilson, John E Dick, Stephen P Hunger, Mignon L Loh, James R Downing, Charles G Mullighan
Chromosomal rearrangements deregulating hematopoietic transcription factors are common in acute lymphoblastic leukemia (ALL). Here we show that deregulation of the homeobox transcription factor gene DUX4 and the ETS transcription factor gene ERG is a hallmark of a subtype of B-progenitor ALL that comprises up to 7% of B-ALL. DUX4 rearrangement and overexpression was present in all cases and was accompanied by transcriptional deregulation of ERG, expression of a novel ERG isoform, ERGalt, and frequent ERG deletion...
October 24, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27744317/dux4-induces-a-transcriptome-more-characteristic-of-a-less-differentiated-cell-state-and-inhibits-myogenesis
#8
Paul Knopp, Yvonne D Krom, Christopher R S Banerji, Maryna Panamarova, Louise A Moyle, Bianca den Hamer, Silvère M van der Maarel, Peter S Zammit
Skeletal muscle wasting in facioscapulohumeral muscular dystrophy (FSHD) results in substantial morbidity. On a disease-permissive chromosome 4qA haplotype, genomic and/or epigenetic changes at the D4Z4 macrosatellite repeat allows transcription of the DUX4 retrogene. Analysing transgenic mice carrying a human D4Z4 genomic locus from an FSHD-affected individual showed that DUX4 was transiently induced in myoblasts during skeletal muscle regeneration. Centromeric to the D4Z4 repeats is an inverted D4Z4 unit encoding DUX4c...
October 15, 2016: Journal of Cell Science
https://www.readbyqxmd.com/read/27722032/parp1-differentially-interacts-with-promoter-region-of-dux4-gene-in-fshd-myoblasts
#9
Vishakha Sharma, Sachchida Nand Pandey, Hunain Khawaja, Kristy J Brown, Yetrib Hathout, Yi-Wen Chen
OBJECTIVE: The goal of the study is to identity proteins, which interact with the promoter region of double homeobox protein 4 (DUX4) gene known to be causative for the autosomal dominant disorder Facioscapulohumeral Muscular Dystrophy (FSHD). METHODS: We performed a DNA pull down assay coupled with mass spectrometry analysis to identify proteins that interact with a DUX4 promoter probe in Rhabdomyosarcomca (RD) cells. We selected the top ranked protein poly (ADP-ribose) polymerase 1 (PARP1) from our mass spectrometry data for further ChIP-qPCR validation using patients' myoblasts...
August 2016: Journal of Genetic Syndrome & Gene Therapy
https://www.readbyqxmd.com/read/27672539/targeting-mrna-for-the-treatment-of-facioscapulohumeral-muscular-dystrophy
#10
REVIEW
Bo Bao, Rika Maruyama, Toshifumi Yokota
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited autosomal dominant disorder characterized clinically by progressive muscle degeneration. Currently, no curative treatment for this disorder exists. FSHD patients are managed through physiotherapy to improve function and quality of life. Over the last two decades, FSHD has been better understood as a disease genetically characterized by a pathogenic contraction of a subset of macrosatellite repeats on chromosome 4. Specifically, several studies support an FSHD pathogenesis model involving the aberrant expression of the double homeobox protein 4 (DUX4) gene...
August 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27664537/targeted-next-generation-sequencing-of-cic-dux4-soft-tissue-sarcomas-demonstrates-low-mutational-burden-and-recurrent-chromosome-1p-loss
#11
Lorena Lazo de la Vega, Daniel H Hovelson, Andi K Cani, Chia-Jen Liu, Jonathan B McHugh, David R Lucas, Dafydd G Thomas, Rajiv M Patel, Scott A Tomlins
Gene fusions between CIC and DUX4 define a rare class of soft tissue sarcomas poorly understood at the molecular level. Previous karyotyping and fluorescence in situ hybridization studies support chromosome 8 trisomy as a recurrent alteration; however, other driving alterations are largely unknown. Thus, we analyzed 11 formalin-fixed, paraffin-embedded CIC-DUX4 sarcoma tissue samples (including 3 sample pairs) using targeted Ion Torrent-based multiplexed polymerase chain reaction next-generation sequencing to characterize potential somatic driver alterations in 409 genes...
December 2016: Human Pathology
https://www.readbyqxmd.com/read/27634379/segregation-between-smchd1-mutation-d4z4-hypomethylation-and-facio-scapulo-humeral-dystrophy-a-case-report
#12
Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, Camille Dion, Emmanuelle Salort Campana, Virginie Mariot, Charlene Chaix, Catherine Vovan, Killian Mazaleyrat, Armand Tasmadjian, Rafaelle Bernard, Julie Dumonceaux, Shahram Attarian, Nicolas Lévy, Karine Nguyen, Frédérique Magdinier, Marc Bartoli
BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence of D4Z4 reduction (FSHD2). In 70-80 % of these patients, variants of the SMCHD1 gene segregate with 4qA haplotypes and D4Z4 hypomethylation. CASE PRESENTATION: We report a family presenting with neuromuscular symptoms reminiscent of FSHD but without D4Z4 copy reduction...
2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27616568/mouse-dux-is-myotoxic-and-shares-partial-functional-homology-with-its-human-paralog-dux4
#13
Jocelyn O Eidahl, Carlee R Giesige, Jacqueline S Domire, Lindsay M Wallace, Allison M Fowler, Susan M Guckes, Sara E Garwick-Coppens, Paul Labhart, Scott Q Harper
D4Z4 repeats are present in at least 11 different mammalian species, including humans and mice. Each repeat contains an open reading frame encoding a double homeodomain (DUX) family transcription factor. Aberrant expression of the D4Z4 ORF called DUX4 is associated with the pathogenesis of Facioscapulohumeral muscular dystrophy (FSHD). DUX4 is toxic to numerous cell types of different species, and over-expression caused dysmorphism and developmental arrest in frogs and zebrafish, embryonic lethality in transgenic mice, and lesions in mouse muscle...
September 11, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27562494/etv4-is-a-useful-marker-for-the-diagnosis-of-cic-rearranged-undifferentiated-round-cell-sarcomas-a-study-of-127-cases-including-mimicking-lesions
#14
Sophie Le Guellec, Valérie Velasco, Gaëlle Pérot, Sarah Watson, Franck Tirode, Jean-Michel Coindre
Subsets of primitive round-cell sarcomas remain difficult to diagnose and classify. Among these is a rare round-cell sarcoma that harbors a CIC gene rearrangement known as CIC-rearranged undifferentiated round-cell sarcoma, which is most commonly fused to the DUX4 gene. Owing to its aggressive clinical behavior and potential therapeutic implications, accurate identification of this novel soft tissue sarcoma is necessary. Definitive diagnosis requires molecular confirmation, but only a few centers are as yet able to perform this test...
August 26, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27556182/dux4-controls-migration-of-mesenchymal-stem-cells-through-the-cxcr4-sdf1-axis
#15
Petr Dmitriev, Ekaterina Kiseleva, Olga Kharchenko, Evgeny Ivashkin, Andrei Pichugin, Philippe Dessen, Thomas Robert, Frédérique Coppée, Alexandra Belayew, Gilles Carnac, Dalila Laoudj-Chenivesse, Marc Lipinski, Andrei Vasiliev, Yegor S Vassetzky
We performed transcriptome profiling of human immortalized myoblasts (MB) transiently expressing double homeobox transcription factor 4 (DUX4) and double homeobox transcription factor 4 centromeric (DUX4c) and identified 114 and 70 genes differentially expressed in DUX4- and DUX4c-transfected myoblasts, respectively. A significant number of differentially expressed genes were involved in inflammation, cellular migration and chemotaxis suggesting a role for DUX4 and DUX4c in these processes. DUX4 but not DUX4c overexpression resulted in upregulation of the CXCR4 (C-X-C motif Receptor 4) and CXCL12 (C-X-C motif ligand 12 also known as SDF1) expression in human immortalized myoblasts...
August 18, 2016: Oncotarget
https://www.readbyqxmd.com/read/27530253/model-systems-of-dux4-expression-recapitulate-the-transcriptional-profile-of-fshd-cells
#16
Sujatha Jagannathan, Sean C Shadle, Rebecca Resnick, Lauren Snider, Rabi N Tawil, Silvère M van der Maarel, Robert K Bradley, Stephen J Tapscott
Facioscapulohumeral dystrophy (FSHD) is caused by the mis-expression of the double-homeodomain transcription factor DUX4 in skeletal muscle cells. Many different cell culture models have been developed to study the pathophysiology of FSHD, frequently based on endogenous expression of DUX4 in FSHD cells or by mis-expression of DUX4 in control human muscle cells. Although results generated using each model are generally consistent, differences have also been reported, making it unclear which model(s) faithfully recapitulate DUX4 and FSHD biology...
August 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27519269/dux4-induced-constitutive-dna-damage-and-oxidative-stress-contribute-to-aberrant-differentiation-of-myoblasts-from-fshd-patients
#17
Petr Dmitriev, Yara Bou Saada, Carla Dib, Eugénie Ansseau, Ana Barat, Aline Hamade, Philippe Dessen, Thomas Robert, Vladimir Lazar, Ruy A N Louzada, Corinne Dupuy, Vlada Zakharova, Gilles Carnac, Marc Lipinski, Yegor S Vassetzky
Facioscapulohumeral dystrophy (FSHD) is one of the three most common muscular dystrophies in the Western world, however, its etiology remains only partially understood. Here, we provide evidence of constitutive DNA damage in in vitro cultured myoblasts isolated from FSHD patients and demonstrate oxidative DNA damage implication in the differentiation of these cells into phenotypically-aberrant myotubes. Double homeobox 4 (DUX4), the major actor in FSHD pathology induced DNA damage accumulation when overexpressed in normal human myoblasts, and RNAi-mediated DUX4 inhibition reduced the level of DNA damage in FSHD myoblasts...
August 9, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27467759/influence-of-repressive-histone-and-dna-methylation-upon-d4z4-transcription-in-non-myogenic-cells
#18
Sunny Das, Brian P Chadwick
We looked at a disease-associated macrosatellite array D4Z4 and focused on epigenetic factors influencing its chromatin state outside of the disease-context. We used the HCT116 cell line that contains the non-canonical polyadenylation (poly-A) signal required to stabilize somatic transcripts of the human double homeobox gene DUX4, encoded from D4Z4. In HCT116, D4Z4 is packaged into constitutive heterochromatin, characterized by DNA methylation and histone H3 tri-methylation at lysine 9 (H3K9me3), resulting in low basal levels of D4Z4-derived transcripts...
2016: PloS One
https://www.readbyqxmd.com/read/27428428/genomic-profiling-of-adult-and-pediatric-b-cell-acute-lymphoblastic-leukemia
#19
Yuan-Fang Liu, Bai-Yan Wang, Wei-Na Zhang, Jin-Yan Huang, Ben-Shang Li, Ming Zhang, Lu Jiang, Jian-Feng Li, Ming-Jie Wang, Yu-Jun Dai, Zi-Guan Zhang, Qiang Wang, Jie Kong, Bing Chen, Yong-Mei Zhu, Xiang-Qin Weng, Zhi-Xiang Shen, Jun-Min Li, Jin Wang, Xiao-Jing Yan, Yan Li, Ying-Min Liang, Li Liu, Xie-Qun Chen, Wang-Gang Zhang, Jin-Song Yan, Jian-Da Hu, Shu-Hong Shen, Jing Chen, Long-Jun Gu, Deqing Pei, Yongjin Li, Gang Wu, Xin Zhou, Rui-Bao Ren, Cheng Cheng, Jun J Yang, Kan-Kan Wang, Sheng-Yue Wang, Jinghui Zhang, Jian-Qing Mi, Ching-Hon Pui, Jing-Yan Tang, Zhu Chen, Sai-Juan Chen
Genomic landscapes of 92 adult and 111 pediatric patients with B-cell acute lymphoblastic leukemia (B-ALL) were investigated using next-generation sequencing and copy number alteration analysis. Recurrent gene mutations and fusions were tested in an additional 87 adult and 93 pediatric patients. Among the 29 newly identified in-frame gene fusions, those involving MEF2D and ZNF384 were clinically relevant and were demonstrated to perturb B-cell differentiation, with EP300-ZNF384 inducing leukemia in mice. Eight gene expression subgroups associated with characteristic genetic abnormalities were identified, including leukemia with MEF2D and ZNF384 fusions in two distinct clusters...
June 2016: EBioMedicine
https://www.readbyqxmd.com/read/27389814/integrating-clinical-and-genetic-observations-in-facioscapulohumeral-muscular-dystrophy
#20
Karlien Mul, Marlinde L van den Boogaard, Silvère M van der Maarel, Baziel G M van Engelen
PURPOSE OF REVIEW: This review gives an overview of the currently known key clinical and (epi)genetic aspects of facioscapulohumeral muscular dystrophy (FSHD) and provides perspectives to facilitate future research. RECENT FINDINGS: Clinically, imaging studies have contributed to a detailed characterization of the FSHD phenotype, and a model is proposed with five stages of disease progression. A number of clinical trials have been conducted regarding exercise and diet aiming to reduce symptoms...
October 2016: Current Opinion in Neurology
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