| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Perla Kaliman, Daniele Catalucci, Jason T Lam, Richard Kondo, José Carlos Paz Gutiérrez, Sita Reddy, Manuel Palacín, Antonio Zorzano, Kenneth R Chien, Pilar Ruiz-Lozan. Myotonic dystrophy protein kinase phosphorylates phospholamban and regulates calcium uptake in cardiomyocyte sarcoplasmic reticulum. The Journal of biological chemistry. vol 280. issue 9. 2005-04-07. PMID:15598648. |
myotonic dystrophy (dm) is caused by a ctg expansion in the 3'-untranslated region of a protein kinase gene (dmpk). |
2005-04-07 |
2023-08-12 |
mouse |
| Vera Gorbunova, Andrei Seluanov, David Mittelman, John H Wilso. Genome-wide demethylation destabilizes CTG.CAG trinucleotide repeats in mammalian cells. Human molecular genetics. vol 13. issue 23. 2005-03-21. PMID:15459182. |
in human cells from myotonic dystrophy patients, treatment with 5-aza-cdr strongly destabilized repeat tracts in the dmpk gene, with a clear bias toward expansion. |
2005-03-21 |
2023-08-12 |
human |
| René E M A van Herpen, Ralph J A Oude Ophuis, Mietske Wijers, Miranda B Bennink, Fons A J van de Loo, Jack Fransen, Bé Wieringa, Derick G Wansin. Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors. Molecular and cellular biology. vol 25. issue 4. 2005-03-16. PMID:15684391. |
myotonic dystrophy protein kinase (dmpk) is a ser/thr-type protein kinase with unknown function, originally identified as the product of the gene that is mutated by triplet repeat expansion in patients with myotonic dystrophy type 1 (dm1). |
2005-03-16 |
2023-08-12 |
mouse |
| Marzena Wojciechowska, Albino Bacolla, Jacquelynn E Larson, Robert D Well. The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions. The Journal of biological chemistry. vol 280. issue 2. 2005-02-25. PMID:15489504. |
this genetic behavior, which was previously unrecognized for a trs, may provide the basis for a new type of instability of the myotonic dystrophy protein kinase (dmpk) gene in patients with a full mutation. |
2005-02-25 |
2023-08-12 |
Not clear |
| Giovanni Meola, Richard T Moxle. Myotonic dystrophy type 2 and related myotonic disorders. Journal of neurology. vol 251. issue 10. 2005-02-22. PMID:15503094. |
myotonic dystrophy type 1 (dm1) results from an unstable expansion of a ctg repeat in 3' utr of the dm protein kinase (dmpk) gene on chromosome 19q 13.3. |
2005-02-22 |
2023-08-12 |
Not clear |
| Yoshihiro Kino, Daisuke Mori, Yoko Oma, Yuya Takeshita, Noboru Sasagawa, Shoichi Ishiur. Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Human molecular genetics. vol 13. issue 5. 2004-12-07. PMID:14722159. |
myotonic dystrophy (dm) type 1 is caused by an expansion of a ctg repeat in the dmpk gene and type 2 by a cctg repeat in the znf9 gene. |
2004-12-07 |
2023-08-12 |
Not clear |
| Qurratulain Hasan, Vasavi Mohan, Y R Ahuj. (CTG)n expansion at DMPK locus seen only in muscle tissue: a novel case. Indian journal of experimental biology. vol 42. issue 9. 2004-11-01. PMID:15462191. |
triplet repeat expansion in 3 untranslated region of myotonic dystrophy protein kinase (dmpk) gene has been implicated as causative in myotonic dystrophy (dm). |
2004-11-01 |
2023-08-12 |
Not clear |
| Christopher J Storbeck, Suzana Drmanic, Kate Daniel, James D Waring, Frank R Jirik, David J Parry, Nazim Ahmed, Luc A Sabourin, Joh-E Ikeda, Robert G Kornelu. Inhibition of myogenesis in transgenic mice expressing the human DMPK 3'-UTR. Human molecular genetics. vol 13. issue 6. 2004-10-28. PMID:14734627. |
myotonic dystrophy (dm1) is a multisystemic disorder caused by a ctg repeat expansion within the 3'-utr of the dmpk gene. |
2004-10-28 |
2023-08-12 |
mouse |
| Nihan Erginel-Unaltuna, Fahri Akba. Improved method for molecular diagnosis of myotonic dystrophy type 1 (DM1). Journal of clinical laboratory analysis. vol 18. issue 1. 2004-09-24. PMID:14730559. |
myotonic dystrophy type 1 (dm1) has been identified as the amplification of a polymorphic (ctg)n repeat in the 3' untranslated region of a gene encoding a serine/threonine kinase (dmpk). |
2004-09-24 |
2023-08-12 |
Not clear |
| Yvonne Ng, Ivan Tan, Louis Lim, Thomas Leun. Expression of the human myotonic dystrophy kinase-related Cdc42-binding kinase gamma is regulated by promoter DNA methylation and Sp1 binding. The Journal of biological chemistry. vol 279. issue 33. 2004-09-24. PMID:15194684. |
myotonic dystrophy kinase-related cdc42 binding kinases (mrcks) are family members most related to the myotonic dystrophy kinase (dmpk), rhoa-binding kinase (rok), and citron kinase. |
2004-09-24 |
2023-08-12 |
human |
| Noboru Sasagawa, Yoshihiro Kino, Yuya Takeshita, Yoko Oma, Shoichi Ishiur. Overexpression of human myotonic dystrophy protein kinase in Schizosaccharomyces pombe induces an abnormal polarized and swollen cell morphology. Journal of biochemistry. vol 134. issue 4. 2004-09-23. PMID:14607980. |
we expressed human myotonic dystrophy protein kinase (dmpk) in the fission yeast schizosaccharomyces pombe, in which the overexpression of human dmpk affects cell growth and cell shape. |
2004-09-23 |
2023-08-12 |
human |
| Maria Eriksso. Real-time RT-PCR for CTG repeat-containing genes. Methods in molecular biology (Clifton, N.J.). vol 277. 2004-09-23. PMID:15201450. |
myotonic dystrophy (dm1) is a neuromuscular disorder caused by a ctgn expansion in the 3'-untranslated region (utr) of myotonic dystrophy protein kinase (dmpk). |
2004-09-23 |
2023-08-12 |
Not clear |
| Maria Eriksso. Real-time RT-PCR for CTG repeat-containing genes. Methods in molecular biology (Clifton, N.J.). vol 277. 2004-09-23. PMID:15201450. |
six5 is a homeodomain gene located just downstream of the repeat, and myotonic dystrophy wd protein (dmwd) is located close upstream of dmpk. |
2004-09-23 |
2023-08-12 |
Not clear |
| Nele De Temmerman, Karen Sermon, Sara Seneca, Martine De Rycke, Pierre Hilven, Willy Lissens, André Van Steirteghem, Inge Liebaer. Intergenerational instability of the expanded CTG repeat in the DMPK gene: studies in human gametes and preimplantation embryos. American journal of human genetics. vol 75. issue 2. 2004-09-20. PMID:15185171. |
the ctg repeat at the 3' untranslated region of the dystrophia myotonica protein kinase (dmpk) gene shows marked intergenerational and somatic instability in patients with myotonic dystrophy (dm1), when the repeat is expanded to more than approximately 55 repeats. |
2004-09-20 |
2023-08-12 |
human |
| R S Savkur, A V Philips, T A Cooper, J C Dalton, M L Moseley, L P W Ranum, J W Da. Insulin receptor splicing alteration in myotonic dystrophy type 2. American journal of human genetics. vol 74. issue 6. 2004-07-06. PMID:15114529. |
myotonic dystrophy (dm) is caused by either an untranslated ctg expansion in the 3' untranslated region of the dmpk gene on chromosome 19 (dystrophia myotonica type 1 [dm1]), or an untranslated cctg tetranucleotide repeat expansion in intron 1 of the znf9 gene on chromosome 3 (dystrophia myotonica type 2 [dm2]). |
2004-07-06 |
2023-08-12 |
mouse |
| Elisabeth Piñeiro, Laura Fernàndez-López, Josep Gamez, Ricard Marcos, Jordi Surrallés, Antonia Velázque. Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1. Nucleic acids research. vol 31. issue 23. 2004-06-30. PMID:14627806. |
the molecular basis of the myotonic dystrophy type 1 is the expansion of a ctg repeat at the dmpk locus. |
2004-06-30 |
2023-08-12 |
Not clear |
| Leonidas A Phylacto. Repair of myotonic dystrophy protein kinase (DMPK) transcripts by trans-splicing ribozymes. Methods in molecular biology (Clifton, N.J.). vol 252. 2004-06-29. PMID:15017064. |
repair of myotonic dystrophy protein kinase (dmpk) transcripts by trans-splicing ribozymes. |
2004-06-29 |
2023-08-12 |
Not clear |
| R Sallinen, A Vihola, L L Bachinski, K Huoponen, H Haapasalo, P Hackman, S Zhang, M Sirito, H Kalimo, G Meola, N Horelli-Kuitunen, M Wessman, R Krahe, B Ud. New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2). Neuromuscular disorders : NMD. vol 14. issue 4. 2004-05-10. PMID:15019706. |
myotonic dystrophy type 1 is caused by a (ctg)n expansion in the 3' untranslated region of the dmpk gene in 19q13.3 and myotonic dystrophy type 2 by a (cctg)n expansion in intron 1 of znf9 in 3q21.3. |
2004-05-10 |
2023-08-12 |
Not clear |
| D G Wansink, B Wiering. Transgenic mouse models for myotonic dystrophy type 1 (DM1). Cytogenetic and genome research. vol 100. issue 1-4. 2004-01-30. PMID:14526185. |
parallel study of dm2, a closely related form of myotonic dystrophy, has revealed a similar mechanism, but also made clear that part of the attention should remain focused on a possible role for candidate loss-of-function genes from the dm1 locus itself (like dmwd, dmpk and six5) or elsewhere in the genome, to find explanations for clinical aspects that are unique to dm1. |
2004-01-30 |
2023-08-12 |
mouse |
| Marc-André Langlois, Nan Sook Lee, John J Rossi, Jack Puymira. Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts. Molecular therapy : the journal of the American Society of Gene Therapy. vol 7. issue 5 Pt 1. 2004-01-23. PMID:12718910. |
myotonic dystrophy type 1 (dm1) is caused by an unstable ctg expansion in the 3' untranslated region (3'utr) of the myotonic dystrophy protein kinase gene (dmpk). |
2004-01-23 |
2023-08-12 |
human |