| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Annalisa Botta, Sara Caldarola, Laura Vallo, Emanuela Bonifazi, Doriana Fruci, Francesca Gullotta, Roberto Massa, Giuseppe Novelli, Fabrizio Loren. Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2). Biochimica et biophysica acta. vol 1762. issue 3. 2006-04-10. PMID:16376058. |
myotonic dystrophy is caused by two different mutations: a (ctg)n expansion in 3' utr region of the dmpk gene (dm1) and a (cctg)n expansion in intron 1 of the znf9 gene (dm2). |
2006-04-10 |
2023-08-12 |
Not clear |
| Emanuela Bonifazi, Francesca Gullotta, Laura Vallo, Raniero Iraci, Anna Maria Nardone, Ercole Brunetti, Annalisa Botta, Giuseppe Novell. Use of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type I. Clinical chemistry. vol 52. issue 2. 2006-03-10. PMID:16449216. |
use of rna fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type i. myotonic dystrophy type 1 (dm1; omim #160900) is an autosomal-dominant genetic disorder with multisystemic clinical features associated with a ctg expansion in the 3' untranslated region of the dmpk gene on chromosome 19q13.3. |
2006-03-10 |
2023-08-12 |
Not clear |
| Blaine H M Mooers, Jeremy S Logue, J Andrew Berglun. The structural basis of myotonic dystrophy from the crystal structure of CUG repeats. Proceedings of the National Academy of Sciences of the United States of America. vol 102. issue 46. 2006-02-03. PMID:16269545. |
myotonic dystrophy (dm) type 1 is associated with an expansion of (>50) ctg repeats within the 3' untranslated region (utr) of the dystrophin myotonin protein kinase gene (dmpk). |
2006-02-03 |
2023-08-12 |
Not clear |
| Takashi Kimura, Masayuki Nakamori, John D Lueck, Pierre Pouliquin, Futoshi Aoike, Harutoshi Fujimura, Robert T Dirksen, Masanori P Takahashi, Angela F Dulhunty, Saburo Sakod. Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. Human molecular genetics. vol 14. issue 15. 2005-12-01. PMID:15972723. |
myotonic dystrophy type 1 (dm1) is a debilitating multisystemic disorder caused by a ctg repeat expansion in the dmpk gene. |
2005-12-01 |
2023-08-12 |
mouse |
| Thai H Ho, Rajesh S Savkur, Michael G Poulos, Michael A Mancini, Maurice S Swanson, Thomas A Coope. Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. Journal of cell science. vol 118. issue Pt 13. 2005-11-28. PMID:15961406. |
myotonic dystrophy type i (dm1), which is caused by a non-coding ctg-repeat expansion in the dystrophia myotonica-protein kinase (dmpk) gene, is an rna-mediated disease. |
2005-11-28 |
2023-08-12 |
Not clear |
| S Salvatori, M Fanin, C P Trevisan, S Furlan, S Reddy, J I Nagy, C Angelin. Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 26. issue 4. 2005-11-08. PMID:16193250. |
decreased expression of dmpk: correlation with ctg repeat expansion and fibre type composition in myotonic dystrophy type 1. |
2005-11-08 |
2023-08-12 |
Not clear |
| S Salvatori, M Fanin, C P Trevisan, S Furlan, S Reddy, J I Nagy, C Angelin. Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 26. issue 4. 2005-11-08. PMID:16193250. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant disease caused by a trinucleotide repeat-expansion, cytosine-thymine-guanine (ctg)n, in the 3' untranslated region of a gene encoding the myotonic dystrophy protein kinase (dmpk). |
2005-11-08 |
2023-08-12 |
Not clear |
| C E M de Die-Smulders, C G Faber, H J M Smeet. [From gene to disease; altered RNA processing as a cause of myotonic dystrophy type 1]. Nederlands tijdschrift voor geneeskunde. vol 149. issue 37. 2005-10-20. PMID:16184945. |
the myotonic dystrophy type 1 mutation is an untranslated cytosine-thymine-guanine (ctg) expansion in the 'dystrophia myotonica-protein kinase' (dmpk) gene. |
2005-10-20 |
2023-08-12 |
Not clear |
| C E M de Die-Smulders, C G Faber, H J M Smeet. [From gene to disease; altered RNA processing as a cause of myotonic dystrophy type 1]. Nederlands tijdschrift voor geneeskunde. vol 149. issue 37. 2005-10-20. PMID:16184945. |
furthermore, reduced dmpk protein levels are present and it is proposed that the expanded ctg repeat has a local effect on genes in the myotonic dystrophy type 1 region by altering the chromatin structure. |
2005-10-20 |
2023-08-12 |
Not clear |
| Renata Del Carratore, Francesca Ciucci, Pascale Beffy, Marta Casella, Mariarita Puntoni, Silvana Simi, Marcella Simil. Human myotonic dystrophy protein kinase effect in S. cerevisiae. Biochimica et biophysica acta. vol 1745. issue 1. 2005-10-05. PMID:15894391. |
human myotonic dystrophy protein kinase (dmpk), the product of the myotonic dystrophy (dm) locus, is a member of a novel class of multidomain serine-threonine protein kinases, which interacts with members of the rho family of small gtpases. |
2005-10-05 |
2023-08-12 |
human |
| Nikolaos P Mastroyiannopoulos, Mariana L Feldman, James B Uney, Mani S Mahadevan, Leonidas A Phylacto. Woodchuck post-transcriptional element induces nuclear export of myotonic dystrophy 3' untranslated region transcripts. EMBO reports. vol 6. issue 5. 2005-08-11. PMID:15832171. |
the retention of mutant myotonic dystrophy protein kinase (dmpk) transcripts in the nucleus of myotonic dystrophy (dm) cells has an important pathogenic role in the disease, resulting in pleiotropic effects including delayed myoblast differentiation. |
2005-08-11 |
2023-08-12 |
Not clear |
| Jonathan M Houseley, Zongsheng Wang, Graham J R Brock, Judith Soloway, Ruben Artero, Manuel Perez-Alonso, Kevin M C O'Dell, Darren G Monckto. Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila. Human molecular genetics. vol 14. issue 6. 2005-07-28. PMID:15703191. |
myotonic dystrophy type 1 is an autosomal dominant disorder associated with the expansion of a ctg repeat in the 3' untranslated region (utr) of the dmpk gene. |
2005-07-28 |
2023-08-12 |
human |
| Dong-Ho Kim, Marc-Andre Langlois, Kwang-Back Lee, Arthur D Riggs, Jack Puymirat, John J Ross. HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence. Nucleic acids research. vol 33. issue 12. 2005-07-27. PMID:16027111. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant neuromuscular disorder associated with a (cug)n expansion in the 3'-untranslated region of the dmpk (dm1 protein kinase) gene. |
2005-07-27 |
2023-08-12 |
Not clear |
| Marc-André Langlois, Christelle Boniface, Gang Wang, Jessica Alluin, Paul M Salvaterra, Jack Puymirat, John J Rossi, Nan Sook Le. Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells. The Journal of biological chemistry. vol 280. issue 17. 2005-06-21. PMID:15722335. |
cytoplasmic and nuclear retained dmpk mrnas are targets for rna interference in myotonic dystrophy cells. |
2005-06-21 |
2023-08-12 |
human |
| Marc-André Langlois, Christelle Boniface, Gang Wang, Jessica Alluin, Paul M Salvaterra, Jack Puymirat, John J Rossi, Nan Sook Le. Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells. The Journal of biological chemistry. vol 280. issue 17. 2005-06-21. PMID:15722335. |
we report here the co-existence of cytoplasmic and nuclear rnai phenomena in primary human myotonic dystrophy type 1 (dm1) cells by targeting myotonic dystrophy protein kinase (dmpk) mrnas. |
2005-06-21 |
2023-08-12 |
human |
| Hideyuki Muraoka, Nobuyuki Negoro, Fumio Terasaki, Takahiro Nakakoji, Shigeyuki Kojima, Masaaki Hoshiga, Masakazu Sugino, Takafumi Hosokawa, Tadashi Ishihara, Toshiaki Hanafus. Re-entry circuit in ventricular tachycardia due to focal fatty-fibrosis in a patient with myotonic dystrophy. Internal medicine (Tokyo, Japan). vol 44. issue 2. 2005-05-17. PMID:15750273. |
the patient was diagnosed as myotonic dystrophy type 1 (dm1) and dna analysis revealed 1,800 ctg-repeat expansion in the myotonic dystrophy protein kinase (dmpk) gene. |
2005-05-17 |
2023-08-12 |
Not clear |
| D Fearghas O'Cochlain, Carmen Perez-Terzic, Santiago Reyes, Garvan C Kane, Atta Behfar, Denice M Hodgson, Jeffrey A Strommen, Xiao-Ke Liu, Walther van den Broek, Derick G Wansink, Bé Wieringa, Andre Terzi. Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy. Human molecular genetics. vol 13. issue 20. 2005-04-25. PMID:15317754. |
transgenic overexpression of human dmpk accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy. |
2005-04-25 |
2023-08-12 |
human |
| Hong Jiang, Ami Mankodi, Maurice S Swanson, Richard T Moxley, Charles A Thornto. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Human molecular genetics. vol 13. issue 24. 2005-04-19. PMID:15496431. |
myotonic dystrophy type 1 (dm1) is caused by expansion of a ctg repeat in the dmpk gene. |
2005-04-19 |
2023-08-12 |
Not clear |
| Warunee Dansithong, Sharan Paul, Lucio Comai, Sita Redd. MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. The Journal of biological chemistry. vol 280. issue 7. 2005-04-18. PMID:15546872. |
in myotonic dystrophy 1 (dm1), aggregation of the mutant dmpk rna into rna-protein complexes containing mbnl1 and mbnl2 has been linked to aberrant splicing of the insulin receptor (ir) rna. |
2005-04-18 |
2023-08-12 |
Not clear |
| D Krndija, D Savić, J Mladenović, V Rakocević-Stojanović, S Apostolski, S Todorović, S Roma. Haplotype analysis of the DM1 locus in the Serbian population. Acta neurologica Scandinavica. vol 111. issue 4. 2005-04-12. PMID:15740580. |
analysis of the ctg-repeat number and three biallelic markers, alu(+/-), hinfi(+/-), and taqi(+/-), in the dmpk gene in healthy and myotonic dystrophy type 1 (dm1) serbian individuals. |
2005-04-12 |
2023-08-12 |
Not clear |