| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Shin-Ichiro Hino, Shinichi Kondo, Hiroshi Sekiya, Atsushi Saito, Soshi Kanemoto, Tomohiko Murakami, Kazuyasu Chihara, Yuri Aoki, Masayuki Nakamori, Masanori P Takahashi, Kazunori Imaizum. Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. Human molecular genetics. vol 16. issue 23. 2008-01-22. PMID:17728322. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant neuromuscular disorder associated with an expansion of ctg trinucleotide repeats in the 3'-untranslated region of the myotonic dystrophy protein kinase (dmpk) gene. |
2008-01-22 |
2023-08-12 |
Not clear |
| R T Acton, C A Rivers, B Watson, S J O. DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans. Clinical genetics. vol 72. issue 5. 2008-01-04. PMID:17877752. |
myotonic dystrophy type 1 (dm1) is a result of a ctg expansion in the 3'-untranslated region of the dmpk gene. |
2008-01-04 |
2023-08-12 |
human |
| Guey-Shin Wang, Debra L Kearney, Mariella De Biasi, George Taffet, Thomas A Coope. Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. The Journal of clinical investigation. vol 117. issue 10. 2007-11-27. PMID:17823658. |
myotonic dystrophy type 1 (dm1) is caused by a ctg trinucleotide expansion in the 3' untranslated region (3' utr) of dm protein kinase (dmpk). |
2007-11-27 |
2023-08-12 |
mouse |
| Ian Holt, Saloni Mittal, Denis Furling, Gillian S Butler-Browne, J David Brook, Glenn E Morri. Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles. Genes to cells : devoted to molecular & cellular mechanisms. vol 12. issue 9. 2007-11-27. PMID:17825047. |
in myotonic dystrophy type 1 (dm1), the export of mutant dmpk mrna is prevented by the presence of expanded cug repeats that accumulate in nuclear foci. |
2007-11-27 |
2023-08-12 |
Not clear |
| Kelly P Smith, Meg Byron, Carol Johnson, Yigong Xing, Jeanne B Lawrenc. Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains. The Journal of cell biology. vol 178. issue 6. 2007-11-27. PMID:17846170. |
in myotonic dystrophy type 1 (dm1), triplet repeat expansion in the 3' untranslated region of dystrophia myotonica protein kinase (dmpk) causes the nuclear retention of mutant messenger rna (mrna). |
2007-11-27 |
2023-08-12 |
Not clear |
| Yuan Yuan, Sarah A Compton, Krzysztof Sobczak, Myrna G Stenberg, Charles A Thornton, Jack D Griffith, Maurice S Swanso. Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs. Nucleic acids research. vol 35. issue 16. 2007-09-28. PMID:17702765. |
this process is dysregulated in myotonic dystrophy because mbnl proteins are sequestered by (cug)n and (ccug)n rnas expressed from mutant dmpk and znf9 genes, respectively. |
2007-09-28 |
2023-08-12 |
Not clear |
| Masayuki Nakamori, Takashi Kimura, Harutoshi Fujimura, Masanori P Takahashi, Saburo Sakod. Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy. Muscle & nerve. vol 36. issue 2. 2007-09-07. PMID:17487865. |
myotonic dystrophy type1 (dm1) is a multisystemic disorder caused by a ctg repeat expansion in the dmpk gene. |
2007-09-07 |
2023-08-12 |
Not clear |
| Tim Becker, Silke Jansen, Stephanie Tamm, Thomas F Wienker, Burkhard Tümmler, Frauke Stank. Transmission ratio distortion and maternal effects confound the analysis of modulators of cystic fibrosis disease severity on 19q13. European journal of human genetics : EJHG. vol 15. issue 7. 2007-07-24. PMID:17406643. |
evidence for a transmission-ratio distortion was obtained at d19s112 (p=0.0304) near the recently characterised myotonic dystrophy locus myotonic dystrophy protein kinase (dmpk). |
2007-07-24 |
2023-08-12 |
Not clear |
| Georgia Kakourou, Seema Dhanjal, Danny Daphnis, Alpesh Doshi, Sarah Nuttall, Sarah Gotts, Paul Serhal, Joy Delhanty, Joyce Harper, Sioban SenGupt. Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2. Prenatal diagnosis. vol 27. issue 2. 2007-04-03. PMID:17192963. |
to report two cases of preimplantation genetic diagnosis (pgd) for myotonic dystrophy type i (dm1) where cross-over between the dmpk locus and a linked polymorphic marker apoc2 was detected. |
2007-04-03 |
2023-08-12 |
Not clear |
| Diane H Cho, Stephen J Tapscot. Myotonic dystrophy: emerging mechanisms for DM1 and DM2. Biochimica et biophysica acta. vol 1772. issue 2. 2007-03-13. PMID:16876389. |
myotonic dystrophy type 1 (dm1) is caused by an expansion of a ctg repeat located in the 3' untranslated region (utr) of dmpk (myotonic dystrophy protein kinase) on chromosome 19q13.3. |
2007-03-13 |
2023-08-12 |
Not clear |
| John D Lueck, Ami Mankodi, Maurice S Swanson, Charles A Thornton, Robert T Dirkse. Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy. The Journal of general physiology. vol 129. issue 1. 2007-02-22. PMID:17158949. |
muscle degeneration and myotonia are clinical hallmarks of myotonic dystrophy type 1 (dm1), a multisystemic disorder caused by a ctg repeat expansion in the 3' untranslated region of the myotonic dystrophy protein kinase (dmpk) gene. |
2007-02-22 |
2023-08-12 |
mouse |
| Kuan-Yu Chen, Huichin Pan, Min-Jon Lin, Yet-Young Li, Li-Chun Wang, Yi-Chun Wu, Kuang-Ming Hsia. Length-dependent toxicity of untranslated CUG repeats on Caenorhabditis elegans. Biochemical and biophysical research communications. vol 352. issue 3. 2007-02-12. PMID:17150182. |
expansion of ctg repeat within the 3'-untranslated region of the dmpk gene causes the most common neuromuscular disorder, myotonic dystrophy type 1 (dm1), through a rna trans-dominant mechanism. |
2007-02-12 |
2023-08-12 |
caenorhabditis_elegans |
| Dusanka Savić, Dusan Keckarević, Vesna Branković-Srećković, Slobodan Apostolski, Slobodanka Todorović, Stanka Roma. Clinical case report atypical myopathy in a young girl with 91 CTG repeats in DM1 locus and a positive DM1 family history. The International journal of neuroscience. vol 116. issue 12. 2007-01-23. PMID:17145685. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant inheritable disease associated with an expansion of ctg repeats in the 3' utr of the dmpk gene. |
2007-01-23 |
2023-08-12 |
human |
| A Botta, E Bonifazi, L Vallo, M Gennarelli, C Garrè, L Salehi, R Iraci, V Sansone, G Meola, G Novell. Italian guidelines for molecular analysis in myotonic dystrophies. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 25. issue 1. 2006-12-07. PMID:17039977. |
myotonic dystrophy type 1 and type 2 are both caused by unstable repetitions in untranslated gene regions: a [ctg]n expansion in the 3' region of the dmpk gene on chromosome 19q13 (dm1) and [cctg]n tetranucleotide repeat located in the first intron of the znf9 gene on chromosome 3q21 (dm2). |
2006-12-07 |
2023-08-12 |
Not clear |
| Walther J A A van den Broek, Marcel R Nelen, Godfried W van der Heijden, Derick G Wansink, Bé Wiering. Fen1 does not control somatic hypermutability of the (CTG)(n)*(CAG)(n) repeat in a knock-in mouse model for DM1. FEBS letters. vol 580. issue 22. 2006-11-09. PMID:16978612. |
we report here on the study of the role of flap endonuclease 1 (fen1), a structure-specific nuclease with both 5' flap endonuclease and 5'-3' exonuclease activity, in the somatic hypermutability of the (ctg)(n)*(cag)(n) repeat of the dmpk gene in a mouse model for myotonic dystrophy type 1 (dm1). |
2006-11-09 |
2023-08-12 |
mouse |
| Mani S Mahadevan, Ramesh S Yadava, Qing Yu, Sadguna Balijepalli, Carla D Frenzel-McCardell, T David Bourne, Lawrence H Phillip. Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nature genetics. vol 38. issue 9. 2006-11-06. PMID:16878132. |
myotonic dystrophy (dm1), the most common muscular dystrophy in adults, is caused by an expanded (ctg)n tract in the 3' utr of the gene encoding myotonic dystrophy protein kinase (dmpk), which results in nuclear entrapment of the 'toxic' mutant rna and interacting rna-binding proteins (such as mbnl1) in ribonuclear inclusions. |
2006-11-06 |
2023-08-12 |
mouse |
| Mani S Mahadevan, Ramesh S Yadava, Qing Yu, Sadguna Balijepalli, Carla D Frenzel-McCardell, T David Bourne, Lawrence H Phillip. Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Nature genetics. vol 38. issue 9. 2006-11-06. PMID:16878132. |
we were surprised to find that mice overexpressing a normal dmpk 3' utr mrna reproduced cardinal features of myotonic dystrophy, including myotonia, cardiac conduction abnormalities, histopathology and rna splicing defects in the absence of detectable nuclear inclusions. |
2006-11-06 |
2023-08-12 |
mouse |
| María de Haro, Ismael Al-Ramahi, Beatrice De Gouyon, Lubna Ukani, Alberto Rosa, Nuno André Faustino, Tetsuo Ashizawa, Thomas A Cooper, Juan Bota. MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. Human molecular genetics. vol 15. issue 13. 2006-09-05. PMID:16723374. |
myotonic dystrophy type 1 (dm1) is a neuromuscular disorder caused by a ctg expansion in the 3' utr of the dystrophia myotonica protein kinase (dmpk) gene. |
2006-09-05 |
2023-08-12 |
drosophila_melanogaster |
| Steve M Helmke, Stephen M Lu, Michelle Harmon, Joe W Glasford, Tricia D Larsen, Stanley C Kwok, Robert S Hodges, M Benjamin Perryma. Myotonic dystrophy protein kinase monoclonal antibody generation from a coiled-coil template. Journal of molecular recognition : JMR. vol 19. issue 3. 2006-07-25. PMID:16680721. |
myotonic dystrophy protein kinase (dmpk) was the initial representative of a ubiquitous protein kinase family that regulates cell size and shape. |
2006-07-25 |
2023-08-12 |
mouse |
| Nicola L Dean, J Concepción Loredo-Osti, T Mary Fujiwara, Kenneth Morgan, Seang Lin Tan, Anna K Naumova, Asangla A. Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos. European journal of human genetics : EJHG. vol 14. issue 3. 2006-05-25. PMID:16391559. |
one form of myotonic dystrophy, dystrophia myotonica 1 (dm1), is caused by the expansion of a (ctg)(n) repeat within the dystrophia myotonica-protein kinase (dmpk) gene located in chromosome region 19q13.3. |
2006-05-25 |
2023-08-12 |
human |