| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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. |
these studies demonstrate for the first time intracellular ribozyme-mediated cleavage of nuclear-retained mutant dmpk mrnas, providing a potential gene therapy agent for the treatment of myotonic dystrophy. |
2004-01-23 |
2023-08-12 |
human |
| Derick G Wansink, René E M A van Herpen, Marga M Coerwinkel-Driessen, Patricia J T A Groenen, Brian A Hemmings, Bé Wiering. Alternative splicing controls myotonic dystrophy protein kinase structure, enzymatic activity, and subcellular localization. Molecular and cellular biology. vol 23. issue 16. 2003-08-29. PMID:12897125. |
transcripts of the myotonic dystrophy protein kinase (dmpk) gene, a member of the rho kinase family, are subject to cell-type specific alternative splicing. |
2003-08-29 |
2023-08-12 |
human |
| Rongxin Zhang, Henry F Epstei. Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinase. FEBS letters. vol 546. issue 2-3. 2003-08-01. PMID:12832055. |
myotonic dystrophy protein kinase (dmpk) is the protein product of the human dm-1 locus on chromosome 19q13.1 and has been implicated in the cardiac and behavioral dysfunctions of the disorder. |
2003-08-01 |
2023-08-12 |
human |
| Dinakar Iyer, Narasimhaswamy Belaguli, Martin Flück, Brian G Rowan, Lei Wei, Nancy L Weigel, Frank W Booth, Henry F Epstein, Robert J Schwartz, Ashok Balasubramanya. Novel phosphorylation target in the serum response factor MADS box regulates alpha-actin transcription. Biochemistry. vol 42. issue 24. 2003-07-31. PMID:12809504. |
myotonic dystrophy protein kinase (dmpk), a muscle- and neuron-restricted kinase, enhanced srf-mediated promoter activity of the skeletal and cardiac alpha-actin genes in c2c12 myoblasts as well as in nonmyogenic cells. |
2003-07-31 |
2023-08-12 |
Not clear |
| Jolanda H A M Westerlaken, Catharina E E M Van der Zee, Wilma Peters, Bé Wiering. The DMWD protein from the myotonic dystrophy (DM1) gene region is developmentally regulated and is present most prominently in synapse-dense brain areas. Brain research. vol 971. issue 1. 2003-07-02. PMID:12691844. |
the dmwd gene is located in the myotonic dystrophy (dm1) gene cluster on 19q, just upstream of the dmpk gene. |
2003-07-02 |
2023-08-12 |
mouse |
| Cédric Savouret, Edith Brisson, Jeroen Essers, Roland Kanaar, Albert Pastink, Hein te Riele, Claudine Junien, Geneviève Gourdo. CTG repeat instability and size variation timing in DNA repair-deficient mice. The EMBO journal. vol 22. issue 9. 2003-06-17. PMID:12727892. |
type 1 myotonic dystrophy is caused by the expansion of an unstable ctg repeat in the dmpk gene. |
2003-06-17 |
2023-08-12 |
mouse |
| James L Meservy, R Geoffrey Sargent, Ravi R Iyer, Fung Chan, Gregory J McKenzie, Robert D Wells, John H Wilso. Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells. Molecular and cellular biology. vol 23. issue 9. 2003-05-29. PMID:12697816. |
expansion of ctg triplet repeats in the 3' untranslated region of the dmpk gene causes the autosomal dominant disorder myotonic dystrophy. |
2003-05-29 |
2023-08-12 |
Not clear |
| Paul E Schulz, Adeka D McIntosh, Michael R Kasten, Berend Wieringa, Henry F Epstei. A role for myotonic dystrophy protein kinase in synaptic plasticity. Journal of neurophysiology. vol 89. issue 3. 2003-05-09. PMID:12612014. |
myotonic dystrophy (dm) is associated with an expanded triplet repeat in the 3'-untranslated region of the gene for myotonic dystrophy protein kinase (dmpk), which may reduce dmpk expression. |
2003-05-09 |
2023-08-12 |
mouse |
| Denis Furling, Le Thanh Lam, Onnik Agbulut, Gillian S Butler-Browne, Glenn E Morri. Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. The American journal of pathology. vol 162. issue 3. 2003-05-07. PMID:12598332. |
myotonic dystrophy (dm1) is caused by the expansion of a ctg repeat in the noncoding region of a protein kinase, dmpk, expressed in skeletal and cardiac muscles. |
2003-05-07 |
2023-08-12 |
Not clear |
| D Brisson, G Houde, J St-Pierre, M C Vohl, J Mathieu, D Gaude. The pleiotropic expression of the myotonic dystrophy protein kinase gene illustrates the complex relationships between genetic, biological and clinical covariates of male aging. The aging male : the official journal of the International Society for the Study of the Aging Male. vol 5. issue 4. 2003-05-07. PMID:12630069. |
myotonic dystrophy (dm1) is an autosomal dominant disorder caused by an unstable (ctg)n repeat expansion in the dm1 protein kinase (dmpk) gene. |
2003-05-07 |
2023-08-12 |
human |
| Gurman S Pall, Keith J Johnson, Godfrey L Smit. Abnormal contractile activity and calcium cycling in cardiac myocytes isolated from DMPK knockout mice. Physiological genomics. vol 13. issue 2. 2003-04-28. PMID:12595579. |
dysfunction of the gene encoding dmpk (myotonic dystrophy protein kinase) has been implicated in the human neuromuscular disease myotonic dystrophy (dm1). |
2003-04-28 |
2023-08-12 |
mouse |
| Manuel Seijo-Martínez, María Castro del Río, Yolanda Campos, Francisco Palau, Joaquín Arenas, Susana Teijeira, Roberto Fernández Hojas, Carmen Navarr. Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy. Journal of the neurological sciences. vol 208. issue 1-2. 2003-04-28. PMID:12639730. |
myotonic dystrophy type 1 (dm1), an autosomal dominant disease characterized by a ctg expansion in the 3' region of the dmpk gene in chromosome 19, is a highly heterogeneous disease. |
2003-04-28 |
2023-08-12 |
Not clear |
| Hiroko Wakimoto, Colin T Maguire, Megan C Sherwood, Marcel M Vargas, Partha S Sarkar, Jennifer Han, Sita Reddy, Charles I Beru. Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene. Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing. vol 7. issue 2. 2003-04-09. PMID:12397222. |
myotonic dystrophy (dm) is an autosomal dominant multisystem disorder, caused by expansion of a ctg trinucleotide repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene (dmpk) on chromosome 19q13. |
2003-04-09 |
2023-08-12 |
mouse |
| Hiroko Wakimoto, Colin T Maguire, Megan C Sherwood, Marcel M Vargas, Partha S Sarkar, Jennifer Han, Sita Reddy, Charles I Beru. Characterization of cardiac conduction system abnormalities in mice with targeted disruption of Six5 gene. Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing. vol 7. issue 2. 2003-04-09. PMID:12397222. |
three hypotheses of molecular mechanisms for dm pathophysiology are; first, partial loss of myotonic dystrophy protein kinase (dmpk); second, decreased transcription of a neighboring homeodomain-encoding gene, six5 (or dmahp), and third, transdominant effects of the rna and regulation of splicing associated with expression of expanded cug repeats. |
2003-04-09 |
2023-08-12 |
mouse |
| Giorgia Schiavon, Sandra Furlan, Oriano Marin, Sergio Salvator. Myotonic dystrophy protein kinase of the cardiac muscle: evaluation using an immunochemical approach. Microscopy research and technique. vol 58. issue 5. 2003-01-29. PMID:12226810. |
myotonic dystrophy (dm) is an inherited multisystem disorder characterized by the presence of a high polymorphic expansion of trinucleotide (ctg) repeat in the 3' untranslated region of the dm protein kinase (dmpk) gene. |
2003-01-29 |
2023-08-12 |
Not clear |
| Giorgia Schiavon, Sandra Furlan, Oriano Marin, Sergio Salvator. Myotonic dystrophy protein kinase of the cardiac muscle: evaluation using an immunochemical approach. Microscopy research and technique. vol 58. issue 5. 2003-01-29. PMID:12226810. |
however, the role of myotonic dystrophy protein kinase (dmpk) has yet to be elucidated. |
2003-01-29 |
2023-08-12 |
Not clear |
| Claudia Abbruzzese, Sandro Costanzi Porrini, Bruno Mariani, Fiona K Gould, John P McAbney, Darren G Monckton, Tetsuo Ashizawa, Manlio Giacanell. Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1. Annals of neurology. vol 52. issue 4. 2002-10-24. PMID:12325072. |
myotonic dystrophy type 1 (dm1) is caused by the expansion of an unstable ctg repeat in the dmpk gene on chromosome 19q13.3. |
2002-10-24 |
2023-08-12 |
Not clear |
| Ki-ichi Okumura, Yoshimasa Aso, Kazumi Tayama, Noboru Yoshida, Yoshiteru Takiguchi, Yoshihiro Takemura, Toshihiko Inuka. Myotonic dystrophy associated with variable circadian rhythms of serum cortisol and isolated thyrotropin deficiency. The American journal of the medical sciences. vol 324. issue 3. 2002-10-11. PMID:12240714. |
the diagnosis of myotonic dystrophy was based on clinical characteristics, positive electromyographic findings, and increased number of ctg repeats in the dystrophia myotonica protein kinase (dmpk) gene. |
2002-10-11 |
2023-08-12 |
Not clear |
| Nicolas Charlet-B, Rajesh S Savkur, Gopal Singh, Anne V Philips, Elizabeth A Grice, Thomas A Coope. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Molecular cell. vol 10. issue 1. 2002-08-19. PMID:12150906. |
myotonic dystrophy type 1 (dm1) is a dominant multisystemic disorder caused by a ctg expansion in the 3' untranslated region of the dmpk gene. |
2002-08-19 |
2023-08-12 |
Not clear |
| Sita Reddy, Dilaawar J Mistry, Qing Cai Wang, Lisa M Geddis, Howard C Kutchai, J Randall Moorman, J Paul Mounse. Effects of age and gene dose on skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. Muscle & nerve. vol 25. issue 6. 2002-08-02. PMID:12115974. |
myotonic muscular dystrophy (dm) is characterized by abnormal skeletal muscle na channel gating and reduced levels of myotonic dystrophy protein kinase (dmpk). |
2002-08-02 |
2023-08-12 |
mouse |