| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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. |
the commonly recognized rna gain-of-function mechanism of dm1 and dm2 suggests that the mutant cug and ccug rnas play a critical role in myotonic dystrophies (dms) without a significant role of dmpk and znf9. |
2010-06-08 |
2023-08-12 |
Not clear |
| Francesca Forner, Sandra Furlan, Sergio Salvator. Mass spectrometry analysis of complexes formed by myotonic dystrophy protein kinase (DMPK). Biochimica et biophysica acta. vol 1804. issue 6. 2010-05-25. PMID:20188867. |
mass spectrometry analysis of complexes formed by myotonic dystrophy protein kinase (dmpk). |
2010-05-25 |
2023-08-12 |
rat |
| Francesca Forner, Sandra Furlan, Sergio Salvator. Mass spectrometry analysis of complexes formed by myotonic dystrophy protein kinase (DMPK). Biochimica et biophysica acta. vol 1804. issue 6. 2010-05-25. PMID:20188867. |
myotonic dystrophy type 1 (dm1) is caused by an expansion of ctg repeats at the 3'-utr of the serine/threonine protein kinase dmpk. |
2010-05-25 |
2023-08-12 |
rat |
| Daisuke Furutama, Nobuyuki Negoro, Fumio Terasaki, Kuniko Tsuji-Matsuyama, Reiko Sakai, Tamaki Maeda, Toshifumi Tanaka, Masaaki Hoshiga, Tadashi Ishihara, Nakaaki Ohsawa, Toshiaki Hanafus. Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 17. issue 3. 2010-04-30. PMID:20074967. |
ctg triplet repeats of "normal" length in the myotonic dystrophy protein kinase (dmpk) gene have been previously believed to be stable and new pathological expansion was not believed to occur. |
2010-04-30 |
2023-08-12 |
Not clear |
| Daisuke Furutama, Nobuyuki Negoro, Fumio Terasaki, Kuniko Tsuji-Matsuyama, Reiko Sakai, Tamaki Maeda, Toshifumi Tanaka, Masaaki Hoshiga, Tadashi Ishihara, Nakaaki Ohsawa, Toshiaki Hanafus. Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 17. issue 3. 2010-04-30. PMID:20074967. |
here we report possible de novo ctg repeat expansion in the dmpk gene in a patient with cardiomyopathy, who was not diagnosed as having myotonic dystrophy type 1 (dm1) by conventional genetic tests. |
2010-04-30 |
2023-08-12 |
Not clear |
| Ralph J A Oude Ophuis, Mietske Wijers, Miranda B Bennink, Fons A J van de Loo, Jack A M Fransen, Bé Wieringa, Derick G Wansin. A tail-anchored myotonic dystrophy protein kinase isoform induces perinuclear clustering of mitochondria, autophagy, and apoptosis. PloS one. vol 4. issue 11. 2010-04-26. PMID:19946639. |
studies on the myotonic dystrophy protein kinase (dmpk) gene and gene products have thus far mainly concentrated on the fate of length mutation in the (ctg)n repeat at the dna level and consequences of repeat expansion at the rna level in dm1 patients and disease models. |
2010-04-26 |
2023-08-12 |
Not clear |
| Semiha Kurt, Hatice Karaer, Yuksel Kaplan, Irem Akat, Esra Battaloglu, Didem Eruslu, A Nazli Basa. Combination of myotonic dystrophy and hereditary motor and sensory neuropathy. Journal of the neurological sciences. vol 288. issue 1-2. 2010-02-17. PMID:19846120. |
in the patient an expanded ctg repeat in the myotonic dystrophy protein kinase (dmpk) gene was confirmed in combination with a duplication in the charcot-marie-tooth disease (cmt1a) gene. |
2010-02-17 |
2023-08-12 |
Not clear |
| Marzena Skrzypczak-Zielinska, Anna Sulek-Piatkowska, Marek Mierzejewski, Ursula G Froste. New analysis method of myotonic dystrophy 1 based on quantitative fluorescent polymerase chain reaction. Genetic testing and molecular biomarkers. vol 13. issue 5. 2010-01-11. PMID:19715468. |
molecular genetic testing of myotonic dystrophy type 1 (dm1) is based on the identification and determination of a cytosine-thymine-guanine (ctg) repeat expansion in the dmpk gene. |
2010-01-11 |
2023-08-12 |
Not clear |
| Ralph J A Oude Ophuis, Susan A M Mulders, René E M A van Herpen, Rinske van de Vorstenbosch, Bé Wieringa, Derick G Wansin. DMPK protein isoforms are differentially expressed in myogenic and neural cell lineages. Muscle & nerve. vol 40. issue 4. 2009-11-16. PMID:19626675. |
cag)n segment in the 3' untranslated region of the myotonic dystrophy protein kinase (dmpk) gene. |
2009-11-16 |
2023-08-12 |
mouse |
| Susan A M Mulders, Walther J A A van den Broek, Thurman M Wheeler, Huib J E Croes, Petra van Kuik-Romeijn, Sjef J de Kimpe, Denis Furling, Gerard J Platenburg, Geneviève Gourdon, Charles A Thornton, Bé Wieringa, Derick G Wansin. Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy. Proceedings of the National Academy of Sciences of the United States of America. vol 106. issue 33. 2009-10-08. PMID:19667189. |
myotonic dystrophy type 1 (dm1) is caused by toxicity of an expanded, noncoding (cug)n tract in dm protein kinase (dmpk) transcripts. |
2009-10-08 |
2023-08-12 |
mouse |
| R P Junghan. Dystrophia myotonia: why focus on foci? European journal of human genetics : EJHG. vol 17. issue 5. 2009-09-28. PMID:19172994. |
dystrophia myotonia type 1 (dm1; steinert's disease; myotonic dystrophy) is an autosomal dominant disorder due to a large ctg expansion in the 3'-untranslated region (utr) of the dm protein kinase (dmpk) gene. |
2009-09-28 |
2023-08-12 |
Not clear |
| Zuzana Musova, Radim Mazanec, Anna Krepelova, Edvard Ehler, Jiri Vales, Radka Jaklova, Tomas Prochazka, Petr Koukal, Tatana Marikova, Josef Kraus, Marketa Havlovicova, Zdenek Sedlace. Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene. American journal of medical genetics. Part A. vol 149A. issue 7. 2009-09-23. PMID:19514047. |
myotonic dystrophy type 1 is caused by the expansion of a ctg repeat in the 3' utr of the dmpk gene. |
2009-09-23 |
2023-08-12 |
Not clear |
| Bin Tian, Rupa Mukhopadhyay, Michael B Mathew. Polymorphic CUG repeats in human mRNAs and their effects on gene expression. RNA biology. vol 2. issue 4. 2009-07-15. PMID:17114933. |
expanded cug repeats in the 3'-untranslated region (utr) of the gene encoding myotonic dystrophy protein kinase (dmpk) cause myotonic dystrophy type 1 disease (dm1). |
2009-07-15 |
2023-08-12 |
human |
| M Bryan Warf, Julien V Diegel, Peter H von Hippel, J Andrew Berglun. The protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing. Proceedings of the National Academy of Sciences of the United States of America. vol 106. issue 23. 2009-07-06. PMID:19470458. |
myotonic dystrophy type 1 (dm1) is a genetic disorder linked to a (ctg)(n) repeat expansion in the 3' untranslated region of the dmpk gene. |
2009-07-06 |
2023-08-12 |
Not clear |
| Esther Llagostera, Mari Carmen Carmona, Meritxell Vicente, Rosa María Escorihuela, Perla Kalima. High-fat diet induced adiposity and insulin resistance in mice lacking the myotonic dystrophy protein kinase. FEBS letters. vol 583. issue 12. 2009-07-02. PMID:19482024. |
myotonic dystrophy 1 (md1) is caused by a ctg expansion in the 3'-unstranslated region of the myotonic dystrophy protein kinase (dmpk) gene. |
2009-07-02 |
2023-08-12 |
mouse |
| F Amenabar, H Jorquera, M Acuña, L Cifuente. CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample. Acta neurologica Scandinavica. vol 119. issue 5. 2009-06-26. PMID:18798829. |
to study the variability at the myotonic dystrophy protein kinase (dmpk) gene in a chilean sample of healthy people. |
2009-06-26 |
2023-08-12 |
Not clear |
| Ami Mankod. Myotonic disorders. Neurology India. vol 56. issue 3. 2009-06-04. PMID:18974556. |
myotonic dystrophy type 1 is caused by ctg repeat expansion in the 3' untranslated region in the dystrophia myotonica protein kinase (dmpk) gene. |
2009-06-04 |
2023-08-12 |
Not clear |
| Nancy L Carso. Analysis of repetitive regions in myotonic dystrophy type 1 and 2. Current protocols in human genetics. vol Chapter 9. 2009-05-18. PMID:19360700. |
there are two forms identified: myotonic dystrophy type 1 (dm1), caused by an expansion of a ctg repeat in the 3' untranslated region of the myotonin-protein kinase (dmpk) gene on chromosome 19, and myotonic dystrophy type 2 (dm2), caused by an expansion of a cctg repeat in intron 1 of the cellular nucleic acid-binding protein (cnbp) gene on chromosome 3. |
2009-05-18 |
2023-08-12 |
Not clear |
| So Yeon Kim, Ji Yeon Kim, Gyoung Pyoung Kim, Jung-Jun Sung, Kyu Sang Lim, Kwang-Woo Lee, Jong Hee Chae, Yoon-Ho Hong, Moon-Woo Seong, Sung Sup Par. Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans. The Korean journal of laboratory medicine. vol 28. issue 6. 2009-03-18. PMID:19127114. |
myotonic dystrophy type 1 (dm1) is an autosomal-dominant muscular dystrophy caused by expansion of cytosine-thymine-guanine (ctg) trinucleotide repeats in the myotonic dystrophy protein kinase (dmpk) gene. |
2009-03-18 |
2023-08-12 |
Not clear |
| Xiao-ping Zhao, Hui-jun Xie, Hui-ming Zheng, Zhi-liang Yu, Yi Cui, Su-ju Ding, Da-ming Ren, Guo-mei Tan. [A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 21. issue 5. 2009-03-03. PMID:15476170. |
two genetic loci are associated with the myotonic dystrophy (dm) phenotype: dm1 dmpk on chromosome 19, and dm2 znf9 on chromosome 3. |
2009-03-03 |
2023-08-12 |
Not clear |