| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Kun Huang, Akio Masuda, Guiying Chen, Samira Bushra, Masayoshi Kamon, Toshiyuki Araki, Masanobu Kinoshita, Bisei Ohkawara, Mikako Ito, Kinji Ohn. Inhibition of cyclooxygenase-1 by nonsteroidal anti-inflammatory drugs demethylates MeR2 enhancer and promotes Mbnl1 transcription in myogenic cells. Scientific reports. vol 10. issue 1. 2020-11-12. PMID:32054946. |
abnormally expanded cug-repeats in the dmpk gene cause myotonic dystrophy type 1 (dm1) by sequestration of mbnl1 to nuclear rna foci and by upregulation of another rna-binding protein, cug-binding protein 1 (cugbp1). |
2020-11-12 |
2023-08-13 |
mouse |
| Costanza Simoncini, Giulia Spadoni, Elisa Lai, Lorenza Santoni, Corrado Angelini, Giulia Ricci, Gabriele Sicilian. Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1. Frontiers in neurology. vol 11. 2020-10-30. PMID:33117249. |
increasing evidences indicate that in myotonic dystrophy type 1 (dm1 or steinert disease), an autosomal dominant multisystem disorder caused by a (ctg)n expansion in dmpk gene on chromosome 19q13. |
2020-10-30 |
2023-08-13 |
Not clear |
| Maike Leferink, Daphne P W Wong, Shiwei Cai, Minli Yeo, Jocelin Ho, Mulias Lian, Erik-Jan Kamsteeg, Samuel S Chong, Lonneke Haer-Wigman, Ming Gua. Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test. Scientific reports. vol 9. issue 1. 2020-10-26. PMID:31164682. |
myotonic dystrophy type 1 is a multisystem disorder caused by the expansion of a trinucleotide repeat in the dmpk gene. |
2020-10-26 |
2023-08-13 |
Not clear |
| Chaitali Misra, Sushant Bangru, Feikai Lin, Kin Lam, Sara N Koenig, Ellen R Lubbers, Jamila Hedhli, Nathaniel P Murphy, Darren J Parker, Lawrence W Dobrucki, Thomas A Cooper, Emad Tajkhorshid, Peter J Mohler, Auinash Kalsotr. Aberrant Expression of a Non-muscle RBFOX2 Isoform Triggers Cardiac Conduction Defects in Myotonic Dystrophy. Developmental cell. vol 52. issue 6. 2020-10-22. PMID:32109384. |
myotonic dystrophy type 1 (dm1) is a multisystemic genetic disorder caused by the ctg repeat expansion in the 3'-untranslated region of dmpk gene. |
2020-10-22 |
2023-08-13 |
mouse |
| Dominic Jauvin, Jessina Chrétien, Sanjay K Pandey, Laurie Martineau, Lucille Revillod, Guillaume Bassez, Aline Lachon, A Robert MacLeod, Geneviève Gourdon, Thurman M Wheeler, Charles A Thornton, C Frank Bennett, Jack Puymira. Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice. Molecular therapy. Nucleic acids. vol 7. 2020-10-01. PMID:28624222. |
targeting dmpk with antisense oligonucleotide improves muscle strength in myotonic dystrophy type 1 mice. |
2020-10-01 |
2023-08-13 |
mouse |
| Massimo Santoro, Roberto Piacentini, Alessia Perna, Eugenia Pisano, Anna Severino, Anna Modoni, Claudio Grassi, Gabriella Silvestr. Resveratrol corrects aberrant splicing of Neural regeneration research. vol 15. issue 9. 2020-09-28. PMID:32209783. |
resveratrol corrects aberrant splicing of myotonic dystrophy type 1 (dm1) is a spliceopathy related to the mis-splicing of several genes caused by sequestration of nuclear transcriptional rna-binding factors from non-coding cug repeats of dmpk pre-mrnas. |
2020-09-28 |
2023-08-13 |
Not clear |
| Masamitsu Nishi, Takashi Kimura, Masataka Igeta, Mitsuru Furuta, Koichi Suenaga, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Hiroo Yoshikaw. Differences in splicing defects between the grey and white matter in myotonic dystrophy type 1 patients. PloS one. vol 15. issue 5. 2020-09-14. PMID:32407311. |
myotonic dystrophy type 1 (dm1) is a multi-system disorder caused by ctg repeats in the myotonic dystrophy protein kinase (dmpk) gene. |
2020-09-14 |
2023-08-13 |
Not clear |
| Takashi Shimoyama, Hiroshi Hayashi, Fumiaki Suzuki, Yasuhiro Nishiyama, Yoshihiro Miyamoto, Takeshi Aiba, Wataru Shimizu, Kazumi Kimur. Idiopathic ventricular fibrillation and the V1764fsX1786 frameshift mutation of the SCN5A gene in a myotonic dystrophy type 1 patient. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 74. 2020-08-17. PMID:32063450. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant inherited muscular dystrophy caused by an expanded ctg repeat in the dystrophia myotonica protein kinase (dmpk) gene. |
2020-08-17 |
2023-08-13 |
Not clear |
| Stella Lanni, Christopher E Pearso. Molecular genetics of congenital myotonic dystrophy. Neurobiology of disease. vol 132. 2020-07-27. PMID:31326502. |
myotonic dystrophy type 1 (dm1) is a neuromuscular disease showing strong genetic anticipation, and is caused by the expansion of a ctg repeat tract in the 3'-utr of the dmpk gene. |
2020-07-27 |
2023-08-13 |
Not clear |
| Albert Rübben, Renate Ursula Wahl, Thomas Eggermann, Edgar Dahl, Nadina Ortiz-Brüchle, Claudio Cacch. Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype. PloS one. vol 15. issue 3. 2020-06-19. PMID:32155193. |
myotonic dystrophy type 1 (dm1) is an inherited neuromuscular disease which results from an expansion of repetitive dna elements within the 3' untranslated region of the dmpk gene. |
2020-06-19 |
2023-08-13 |
Not clear |
| Mirella Lo Scrudato, Karine Poulard, Célia Sourd, Stéphanie Tomé, Arnaud F Klein, Guillaume Corre, Aline Huguet, Denis Furling, Geneviève Gourdon, Ana Buj-Bell. Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice. Molecular therapy : the journal of the American Society of Gene Therapy. vol 27. issue 8. 2020-05-29. PMID:31253581. |
myotonic dystrophy type 1 (dm1) is caused by a ctg repeat expansion located in the 3' utr of the dmpk gene. |
2020-05-29 |
2023-08-13 |
mouse |
| Mirella Lo Scrudato, Karine Poulard, Célia Sourd, Stéphanie Tomé, Arnaud F Klein, Guillaume Corre, Aline Huguet, Denis Furling, Geneviève Gourdon, Ana Buj-Bell. Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice. Molecular therapy : the journal of the American Society of Gene Therapy. vol 27. issue 8. 2020-05-29. PMID:31253581. |
furthermore, a single intramuscular injection of recombinant aav vectors expressing crispr-sacas9 components in the tibialis anterior muscle of dmsxl (myotonic dystrophy mouse line carrying the human dmpk gene with >1,000 ctg repeats) mice decreased the number of pathological rna foci in myonuclei. |
2020-05-29 |
2023-08-13 |
mouse |
| Ewa Stepniak-Konieczna, Patryk Konieczny, Piotr Cywoniuk, Julia Dluzewska, Krzysztof Sobcza. AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1. Nucleic acids research. vol 48. issue 5. 2020-05-18. PMID:31965181. |
aon-induced splice-switching and dmpk pre-mrna degradation as potential therapeutic approaches for myotonic dystrophy type 1. |
2020-05-18 |
2023-08-13 |
Not clear |
| Ewa Stepniak-Konieczna, Patryk Konieczny, Piotr Cywoniuk, Julia Dluzewska, Krzysztof Sobcza. AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1. Nucleic acids research. vol 48. issue 5. 2020-05-18. PMID:31965181. |
expansion of an unstable ctg repeat in the 3'utr of the dmpk gene causes myotonic dystrophy type 1 (dm1). |
2020-05-18 |
2023-08-13 |
Not clear |
| Gayle Overend, Cécilia Légaré, Jean Mathieu, Luigi Bouchard, Cynthia Gagnon, Darren G Monckto. Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes. Human molecular genetics. vol 28. issue 13. 2020-03-30. PMID:31220271. |
allele length of the dmpk ctg repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes. |
2020-03-30 |
2023-08-13 |
human |
| Gayle Overend, Cécilia Légaré, Jean Mathieu, Luigi Bouchard, Cynthia Gagnon, Darren G Monckto. Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes. Human molecular genetics. vol 28. issue 13. 2020-03-30. PMID:31220271. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant inherited disorder caused by expansion of a germline and somatically unstable ctg repeat in the dmpk gene. |
2020-03-30 |
2023-08-13 |
human |
| Lena Qawasmi, Maya Braun, Irene Guberman, Emiliano Cohen, Lamis Naddaf, Anna Mellul, Olli Matilainen, Noa Roitenberg, Danielle Share, Doron Stupp, Haya Chahine, Ehud Cohen, Susana M D A Garcia, Yuval Tabac. Expanded CUG Repeats Trigger Disease Phenotype and Expression Changes through the RNAi Machinery in C. elegans. Journal of molecular biology. vol 431. issue 9. 2020-03-19. PMID:30878478. |
myotonic dystrophy type 1 is an autosomal-dominant inherited disorder caused by the expansion of ctg repeats in the 3' untranslated region of the dmpk gene. |
2020-03-19 |
2023-08-13 |
human |
| Ramesh S Yadava, Yun K Kim, Mahua Mandal, Karunasai Mahadevan, Jordan T Gladman, Qing Yu, Mani S Mahadeva. MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity. Human molecular genetics. vol 28. issue 14. 2020-03-12. PMID:30997488. |
myotonic dystrophy type 1 (dm1) is caused by an expanded (ctg)n tract in the 3'utr of the dm protein kinase (dmpk) gene. |
2020-03-12 |
2023-08-13 |
mouse |
| Madhavi Prasad, Michael Glueck, Delia Ceballos-Saenz, Eugenio Zapata-Aldana, Nicholas Johnson, Craig Campbell, Cam-Tu Emilie Nguye. A Phenotypic Description of Congenital Myotonic Dystrophy using PhenoStacks. Journal of neuromuscular diseases. vol 6. issue 3. 2020-02-17. PMID:31227653. |
congenital myotonic dystrophy (cdm1) is a rare neuromuscular condition caused by a triplet repeat expansion in the dmpk gene. |
2020-02-17 |
2023-08-13 |
human |
| Laurène M André, Remco T P van Cruchten, Marieke Willemse, Derick G Wansin. (CTG)n repeat-mediated dysregulation of MBNL1 and MBNL2 expression during myogenesis in DM1 occurs already at the myoblast stage. PloS one. vol 14. issue 5. 2020-02-03. PMID:31116797. |
myotonic dystrophy type 1 (dm1) is a severe neuromuscular disorder caused by the expression of trinucleotide repeat-containing dmpk transcripts. |
2020-02-03 |
2023-08-13 |
Not clear |