| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Debra A O'Leary, Leonardo Vargas, Orzala Sharif, Michael E Garcia, Yury J Sigal, Siu-Kei Chow, Christian Schmedt, Jeremy S Caldwell, Achim Brinker, Ingo H Engel. HTS-Compatible Patient-Derived Cell-Based Assay to Identify Small Molecule Modulators of Aberrant Splicing in Myotonic Dystrophy Type 1. Current chemical genomics. vol 4. 2011-07-14. PMID:20502647. |
myotonic dystrophy type 1 (dm1) is a genetic disorder characterized by muscle wasting, myotonia, cataracts, cardiac arrhythmia, hyperinsulinism and intellectual deficits, and is caused by expansion of a ctg repeat in the 3'utr of the dystrophia myotonica-protein kinase (dmpk) gene. |
2011-07-14 |
2023-08-12 |
human |
| Kyoko Itoh, Maki Mitani, Kunihiko Kawamoto, Naonobu Futamura, Itaru Funakawa, Kenji Jinnai, Shinji Fushik. Neuropathology does not Correlate with Regional Differences in the Extent of Expansion of CTG Repeats in the Brain with Myotonic Dystrophy Type 1. Acta histochemica et cytochemica. vol 43. issue 6. 2011-07-14. PMID:21245981. |
myotonic dystrophy (dm1) is known to be an adult-onset muscular dystrophy caused by the expansion of ctg repeats within the 3' untranslated region of the dystrophin myotonin protein kinase (dmpk) gene. |
2011-07-14 |
2023-08-12 |
human |
| J J Magaña, P Cortés-Reynosa, R Escobar-Cedillo, R Gómez, N Leyva-García, B Cisnero. Distribution of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population. Molecular biology reports. vol 38. issue 2. 2011-05-26. PMID:20635151. |
distribution of ctg repeats at the dmpk gene in myotonic dystrophy patients and healthy individuals from the mexican population. |
2011-05-26 |
2023-08-12 |
human |
| J J Magaña, P Cortés-Reynosa, R Escobar-Cedillo, R Gómez, N Leyva-García, B Cisnero. Distribution of CTG repeats at the DMPK gene in myotonic dystrophy patients and healthy individuals from the Mexican population. Molecular biology reports. vol 38. issue 2. 2011-05-26. PMID:20635151. |
myotonic dystrophy type 1 (dm1), the most common form of adult muscular dystrophy, is caused by anormal expansion of ctg trinucleotide repeats located in the 3'-untranslated region of the dmpk gene. |
2011-05-26 |
2023-08-12 |
human |
| Jan Radvansky, Andrej Ficek, Gabriel Minarik, Roland Palffy, Ludevit Kadas. Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing. Diagnostic molecular pathology : the American journal of surgical pathology, part B. vol 20. issue 1. 2011-05-04. PMID:21326039. |
myotonic dystrophy type 1 (dm1) is caused by expansion of the ctg trinucleotide repeat in the dmpk gene. |
2011-05-04 |
2023-08-12 |
Not clear |
| Jonathan J Magaña, Bulmaro Cisnero. Perspectives on gene therapy in myotonic dystrophy type 1. Journal of neuroscience research. vol 89. issue 3. 2011-05-03. PMID:21259315. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant neuromuscular disorder caused by a ctg expansion mutation located in the 3' untranslated region of the dmpk (dm1 protein kinase) gene. |
2011-05-03 |
2023-08-12 |
Not clear |
| S Theerasasawat, C Papsing, T Pulke. CTG repeat lengths of the DMPK gene in myotonic dystrophy patients compared to healthy controls in Thailand. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 17. issue 12. 2011-03-10. PMID:20801043. |
ctg repeat lengths of the dmpk gene in myotonic dystrophy patients compared to healthy controls in thailand. |
2011-03-10 |
2023-08-12 |
Not clear |
| S Theerasasawat, C Papsing, T Pulke. CTG repeat lengths of the DMPK gene in myotonic dystrophy patients compared to healthy controls in Thailand. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 17. issue 12. 2011-03-10. PMID:20801043. |
myotonic dystrophy (dm) is frequently associated with large expansions of the cytosine-thymine-guanine (ctg) repeat in the myotonic dystrophy protein kinase gene (dmpk). |
2011-03-10 |
2023-08-12 |
Not clear |
| Virginie François, Arnaud F Klein, Cyriaque Beley, Arnaud Jollet, Camille Lemercier, Luis Garcia, Denis Furlin. Selective silencing of mutated mRNAs in DM1 by using modified hU7-snRNAs. Nature structural & molecular biology. vol 18. issue 1. 2011-02-11. PMID:21186365. |
engineered hu7-snrnas containing a poly-cag antisense sequence targeting the expanded cug repeats of mutant dmpk transcripts in myotonic dystrophy caused specific degradation of pathogenic dmpk mrnas without affecting the products of wild-type dmpk alleles. |
2011-02-11 |
2023-08-12 |
human |
| Anna Matynia, Carina Hoi Ng, Warunee Dansithong, Andy Chiang, Alcino J Silva, Sita Redd. Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy. PloS one. vol 5. issue 3. 2011-01-11. PMID:20360842. |
muscleblind1, but not dmpk or six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy. |
2011-01-11 |
2023-08-12 |
mouse |
| Nikolas P Mastroyiannopoulos, Christos Shammas, Leonidas A Phylacto. Tackling the pathogenesis of RNA nuclear retention in myotonic dystrophy. Biology of the cell. vol 102. issue 9. 2010-11-01. PMID:20690904. |
the presence of an expanded cug trinucleotide repeat in the 3'-utr (3'-untranslated region) of the dmpk (myotonic dystrophy protein kinase) gene causes the attraction of rna-binding proteins by the nuclear-located mutant transcripts. |
2010-11-01 |
2023-08-12 |
Not clear |
| E Loro, F Rinaldi, A Malena, E Masiero, G Novelli, C Angelini, V Romeo, M Sandri, A Botta, L Vergan. Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells. Cell death and differentiation. vol 17. issue 8. 2010-10-26. PMID:20431600. |
myotonic dystrophy (dm) is caused by a (ctg)(n) expansion in the 3'-untranslated region of dmpk gene. |
2010-10-26 |
2023-08-12 |
human |
| Min-Jung Kwon, Seung-Tae Lee, Byoung Joon Kim, Duk Hyun Sung, Jong-Won Kim, Chang-Seok K. Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in the Korean population. Annals of clinical and laboratory science. vol 40. issue 2. 2010-09-17. PMID:20421627. |
myotonic dystrophy type 1 (dm1) is caused by unstable expansion of the ctg repeat in the dmpk gene. |
2010-09-17 |
2023-08-12 |
human |
| Susan A M Mulders, Baziel G M van Engelen, Bé Wieringa, Derick G Wansin. Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function. Human molecular genetics. vol 19. issue R1. 2010-08-24. PMID:20406734. |
unstable expansions of (ctg*cag)n or (cctg*cagg)n repeat tracts in the dmpk and znf9 genes cause the two known subtypes of myotonic dystrophy, dm1 and dm2, for which no cure or effective molecular treatment exists. |
2010-08-24 |
2023-08-12 |
Not clear |
| Kayo Tominaga, Yukiko K Hayashi, Kanako Goto, Narihiro Minami, Satoru Noguchi, Ikuya Nonaka, Tetsuro Miki, Ichizo Nishin. Congenital myotonic dystrophy can show congenital fiber type disproportion pathology. Acta neuropathologica. vol 119. issue 4. 2010-08-13. PMID:20179953. |
congenital myotonic dystrophy (cdm) is associated with markedly expanded ctg repeats in dmpk. |
2010-08-13 |
2023-08-12 |
Not clear |
| C Thiriez, C Vignal, C Papeix, S Yaici, M Vidailhet, E Roz. Ophthalmoplegia as the presenting muscle-related manifestation of myotonic dystrophy. Revue neurologique. vol 166. issue 5. 2010-08-04. PMID:20092863. |
myotonic dystrophy type 1 (dm1) is a genetic disorder caused by expanded ctg repeats within the 3' untranslated region of the dystrophia myotonia protein kinase (dmpk) gene on chromosome 19. |
2010-08-04 |
2023-08-12 |
Not clear |
| Alban Vignaud, Arnaud Ferry, Aline Huguet, Martin Baraibar, Capucine Trollet, Janek Hyzewicz, Gillian Butler-Browne, Jack Puymirat, Genevieve Gourdon, Denis Furlin. Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin-proteasome pathway. Neuromuscular disorders : NMD. vol 20. issue 5. 2010-07-12. PMID:20346670. |
myotonic dystrophy type 1 (dm1) is a neuromuscular disease caused by the expansion of a ctg repeat in the dmpk gene and characterised by progressive skeletal muscle weakness and wasting. |
2010-07-12 |
2023-08-12 |
mouse |
| Misha Koshelev, Satyam Sarma, Roger E Price, Xander H T Wehrens, Thomas A Coope. Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. Human molecular genetics. vol 19. issue 6. 2010-06-10. PMID:20051426. |
myotonic dystrophy type 1 (dm1) is caused by a ctg expansion within the 3'-untranslated region of the dmpk gene. |
2010-06-10 |
2023-08-12 |
mouse |
| Khalil Hamzi, Hanane Bellayou, Ilham Slassi, Sellama Nadif. A rapid polymerase chain reaction-based test for screening Steinert's disease (DM1). Neurology India. vol 58. issue 1. 2010-06-10. PMID:20228473. |
myotonic dystrophy (dm) is a multisystemic neuromuscular disorder caused by a dynamic mutation of (ctg) trinucleotide repeats in the 3' untranslated region of the myotonic dystrophy protein kinase gene (dmpk). |
2010-06-10 |
2023-08-12 |
human |
| Christiane Schneider-Gold, Lubov T Timchenk. CCUG repeats reduce the rate of global protein synthesis in myotonic dystrophy type 2. Reviews in the neurosciences. vol 21. issue 1. 2010-06-08. PMID:20458885. |
expansion of non-coding ctg and cctg repeats in the 3' utr of the myotonin protein kinase (dmpk) gene in myotonic dystrophy type 1 (dm1) and in the intron 1 of zinc finger protein 9 (znf9) in myotonic dystrophy type 2 (dm2) represent typical non-coding mutations that cause the diseases mainly through transdominant effect on the rna metabolism (splicing, translation and rna stability). |
2010-06-08 |
2023-08-12 |
Not clear |