| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Aymeric Ravel-Chapuis, Amanda Klein Gunnewiek, Guy Bélanger, Tara E Crawford Parks, Jocelyn Côté, Bernard J Jasmi. Staufen1 impairs stress granule formation in skeletal muscle cells from myotonic dystrophy type 1 patients. Molecular biology of the cell. vol 27. issue 11. 2017-07-28. PMID:27030674. |
myotonic dystrophy (dm1) is caused by an expansion of cug repeats (cug(exp)) in the dmpk mrna 3'utr. |
2017-07-28 |
2023-08-13 |
Not clear |
| Samuel T Carrell, Ellie M Carrell, David Auerbach, Sanjay K Pandey, C Frank Bennett, Robert T Dirksen, Charles A Thornto. Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice. Human molecular genetics. vol 25. issue 19. 2017-06-09. PMID:27522499. |
myotonic dystrophy type 1 (dm1) is a genetic disorder in which dominant-active dm protein kinase (dmpk) transcripts accumulate in nuclear foci, leading to abnormal regulation of rna processing. |
2017-06-09 |
2023-08-13 |
mouse |
| Yuanzheng Gao, Xiuming Guo, Katherine Santostefano, Yanlin Wang, Tammy Reid, Desmond Zeng, Naohiro Terada, Tetsuo Ashizawa, Guangbin Xi. Genome Therapy of Myotonic Dystrophy Type 1 iPS Cells for Development of Autologous Stem Cell Therapy. Molecular therapy : the journal of the American Society of Gene Therapy. vol 24. issue 8. 2017-06-06. PMID:27203440. |
myotonic dystrophy type 1 (dm1) is caused by expanded cytosine-thymine-guanine (ctg) repeats in the 3'-untranslated region (3' utr) of the dystrophia myotonica protein kinase (dmpk) gene, for which there is no effective therapy. |
2017-06-06 |
2023-08-13 |
human |
| Łukasz J Sznajder, Michał Michalak, Katarzyna Taylor, Piotr Cywoniuk, Michał Kabza, Agnieszka Wojtkowiak-Szlachcic, Magdalena Matłoka, Patryk Konieczny, Krzysztof Sobcza. Mechanistic determinants of MBNL activity. Nucleic acids research. vol 44. issue 21. 2017-05-31. PMID:27733504. |
mbnl activity is disrupted in the neuromuscular disease myotonic dystrophy type 1 (dm1), due to the instability of a non-coding microsatellite in the dmpk gene and the expression of cug expansion (cug |
2017-05-31 |
2023-08-13 |
Not clear |
| Lise Barbé, Stella Lanni, Arturo López-Castel, Silvie Franck, Claudia Spits, Kathelijn Keymolen, Sara Seneca, Stephanie Tomé, Ioana Miron, Julie Letourneau, Minggao Liang, Sanaa Choufani, Rosanna Weksberg, Michael D Wilson, Zdenek Sedlacek, Cynthia Gagnon, Zuzana Musova, David Chitayat, Patrick Shannon, Jean Mathieu, Karen Sermon, Christopher E Pearso. CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. American journal of human genetics. vol 100. issue 3. 2017-05-10. PMID:28257691. |
ctg repeat expansions in dmpk cause myotonic dystrophy (dm1) with a continuum of severity and ages of onset. |
2017-05-10 |
2023-08-13 |
human |
| Biljana Dumevska, Heather Main, Robert McKernan, Divya Goel, Uli Schmid. Derivation of DM1 affected human embryonic stem cell line Genea067. Stem cell research. vol 16. issue 2. 2016-12-20. PMID:27346009. |
the genea067 human embryonic stem cell line was derived from a donated, fully commercially consented art blastocyst, carrying expansion of ctg repeats in the dmpk gene, indicative of myotonic dystrophy type 1 (dm1). |
2016-12-20 |
2023-08-13 |
human |
| Véronique Bissay, Sophie C H Van Malderen, Kathelijn Keymolen, Willy Lissens, Uschi Peeters, Dorien Daneels, Anna C Jansen, Gudrun Pappaert, Pedro Brugada, Jacques De Keyser, Sonia Van Doore. SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. European journal of human genetics : EJHG. vol 24. issue 3. 2016-10-31. PMID:26036855. |
one brugada family carried an scn4a variant that is predicted to probably affect function, one family suffered from a not genetically confirmed non-dystrophic myotonia, one family was diagnosed with myotonic dystrophy (dmpk gene) and one family had a thomsen disease myotonia congenita (clcn1 variant that affects function). |
2016-10-31 |
2023-08-13 |
Not clear |
| Lauren Buckley, Michelle Lacey, Melanie Ehrlic. Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood. Epigenomics. vol 8. issue 1. 2016-10-14. PMID:26756355. |
identify epigenetic marks in the vicinity of dmpk (linked to myotonic dystrophy, dm1) that help explain tissue-specific differences in its expression. |
2016-10-14 |
2023-08-13 |
Not clear |
| S Iachettini, R Valaperta, A Marchesi, A Perfetti, G Cuomo, B Fossati, L Vaienti, E Costa, G Meola, R Cardan. Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: a useful tool in myotonic dystrophy type 1. European journal of histochemistry : EJH. vol 59. issue 4. 2016-09-30. PMID:26708183. |
myotonic dystrophy type 1 (dm1) is a neuromuscular disorder caused by a ctg repeat expansion in 3'utr of dmpk gene. |
2016-09-30 |
2023-08-13 |
human |
| Luke Witherspoon, Sean O'Reilly, Jeremiah Hadwen, Nafisa Tasnim, Alex MacKenzie, Faraz Faroo. Sodium Channel Inhibitors Reduce DMPK mRNA and Protein. Clinical and translational science. vol 8. issue 4. 2016-08-22. PMID:26011798. |
myotonic dystrophy type 1 (dm1) is caused by an expanded trinucleotide (ctg)n tract in the 3' untranslated region (utr) of the dystrophia myotonica protein kinase (dmpk) gene. |
2016-08-22 |
2023-08-13 |
mouse |
| Ramesh S Yadava, Erin P Foff, Qing Yu, Jordan T Gladman, Timothy S Zheng, Mani S Mahadeva. TWEAK Regulates Muscle Functions in a Mouse Model of RNA Toxicity. PloS one. vol 11. issue 2. 2016-07-20. PMID:26901467. |
myotonic dystrophy type 1 (dm1), the most common form of muscular dystrophy in adults, is caused by toxic rnas produced from the mutant dm protein kinase (dmpk) gene. |
2016-07-20 |
2023-08-13 |
mouse |
| Juan M Fernandez-Costa, Beatriz Llamusi, Ariadna Bargiela, Miren Zulaica, M Carmen Alvarez-Abril, Manuel Perez-Alonso, Adolfo Lopez de Munain, Arturo Lopez-Castel, Ruben Arter. Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers. PloS one. vol 11. issue 2. 2016-07-20. PMID:26919350. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant genetic disease caused by expansion of a ctg microsatellite in the 3' untranslated region of the dmpk gene. |
2016-07-20 |
2023-08-13 |
Not clear |
| Hong-Jeon Kim, Jung-Hwan Oh, Sa-Yoon Kan. Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1. Experimental neurobiology. vol 25. issue 3. 2016-06-30. PMID:27358583. |
myotonic dystrophy type 1 (dm1) is caused by ctg repeat expansion in the dmpk gene in chromosome 19q13.3. |
2016-06-30 |
2023-08-13 |
Not clear |
| Lise Michel, Aline Huguet-Lachon, Geneviève Gourdo. Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development. PloS one. vol 10. issue 9. 2016-05-17. PMID:26339785. |
myotonic dystrophy type 1 (dm1) is caused by an unstable expanded ctg repeat located within the dmpk gene 3'utr. |
2016-05-17 |
2023-08-13 |
mouse |
| b' Emma Bondy-Chorney, Tara E Crawford Parks, Aymeric Ravel-Chapuis, Roscoe Klinck, Lynda Rocheleau, Martin Pelchat, Benoit Chabot, Bernard J Jasmin, Jocelyn C\\xc3\\xb4t\\xc3\\xa. Staufen1 Regulates Multiple Alternative Splicing Events either Positively or Negatively in DM1 Indicating Its Role as a Disease Modifier. PLoS genetics. vol 12. issue 1. 2016-05-09. PMID:26824521.' |
myotonic dystrophy type 1 (dm1) is a neuromuscular disorder caused by an expansion of cug repeats in the 3' utr of the dmpk gene. |
2016-05-09 |
2023-08-13 |
mouse |
| Shira Yanovsky-Dagan, Michal Avitzour, Gheona Altarescu, Paul Renbaum, Talia Eldar-Geva, Oshrat Schonberger, Stella Mitrani-Rosenbaum, Ephrat Levy-Lahad, Ramon Y Birnbaum, Lior Gepstein, Silvina Epsztejn-Litman, Rachel Eige. Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells. Stem cell reports. vol 5. issue 2. 2016-05-05. PMID:26190529. |
ctg repeat expansion in dmpk, the cause of myotonic dystrophy type 1 (dm1), frequently results in hypermethylation and reduced six5 expression. |
2016-05-05 |
2023-08-13 |
human |
| Mulias Lian, Indhu-Shree Rajan-Babu, Kunal Singh, Caroline G Lee, Hai-Yang Law, Samuel S Chon. Efficient and highly sensitive screen for myotonic dystrophy type 1 using a one-step triplet-primed PCR and melting curve assay. The Journal of molecular diagnostics : JMD. vol 17. issue 2. 2016-04-25. PMID:25684273. |
instability and expansion of the dmpk ctg repeat cause myotonic dystrophy type 1 (dm1), the most common adult-onset neuromuscular disorder. |
2016-04-25 |
2023-08-13 |
Not clear |
| Zhuoshen Zhao, Ed Manse. Myotonic dystrophy kinase-related Cdc42-binding kinases (MRCK), the ROCK-like effectors of Cdc42 and Rac1. Small GTPases. vol 6. issue 2. 2016-04-21. PMID:26090570. |
the myotonic dystrophy kinase-related cdc42-binding kinases (mrcks), and the rhoa binding coiled-coil containing kinases (rocks) are widely expressed members of the dystrophia myotonica protein kinase (dmpk) family. |
2016-04-21 |
2023-08-13 |
Not clear |
| Guangbin Xia, Yuanzheng Gao, Shouguang Jin, S H Subramony, Naohiro Terada, Laura P W Ranum, Maurice S Swanson, Tetsuo Ashizaw. Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells. Stem cells (Dayton, Ohio). vol 33. issue 6. 2016-03-15. PMID:25702800. |
myotonic dystrophy type 1 (dm1) is caused by expanded ctg repeats in the 3'-untranslated region (3' utr) of the dmpk gene. |
2016-03-15 |
2023-08-13 |
human |
| Toru Takarada, Atsushi Nishida, Atsuko Takeuchi, Tomoko Lee, Yasuhiro Takeshima, Masafumi Matsu. Resveratrol enhances splicing of insulin receptor exon 11 in myotonic dystrophy type 1 fibroblasts. Brain & development. vol 37. issue 7. 2016-03-10. PMID:25476247. |
myotonic dystrophy type 1 (dm1) is characterized by splicing abnormalities caused by cug expansion of the dmpk gene transcript. |
2016-03-10 |
2023-08-13 |
Not clear |