| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| J Gamez, D Montane, L Martorell, T Minoves, C Cerver. Bilateral optic nerve atrophy in myotonic dystrophy. American journal of ophthalmology. vol 131. issue 3. 2001-04-12. PMID:11239886. |
myotonic dystrophy is an autosomal dominant disorder, genetically resulting from an expansion of an unstable ctg repeat in the 3'-untranslated region of a protein kinase gene (dmpk) on chromosome 19q13.3. |
2001-04-12 |
2023-08-12 |
Not clear |
| J P Mounsey, D J Mistry, C W Ai, S Reddy, J R Moorma. Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. Human molecular genetics. vol 9. issue 15. 2001-02-08. PMID:11001935. |
myotonic dystrophy, a progressive autosomal dominant disorder, is associated with an expansion of a ctg repeat tract located in the 3'-untranslated region of a serine/threonine protein kinase, dmpk. |
2001-02-08 |
2023-08-12 |
mouse |
| A Endo, K Motonaga, K Arahata, K Harada, T Yamada, S Takashim. Developmental expression of myotonic dystrophy protein kinase in brain and its relevance to clinical phenotype. Acta neuropathologica. vol 100. issue 5. 2001-02-01. PMID:11045673. |
to investigate the pathophysiologic role of myotonic dystrophy protein kinase (dmpk) in the brain in myotonic dystrophy (md), the developmental characteristics of dmpk immunoreactivity in the central nervous system and its alteration with disease were studied. |
2001-02-01 |
2023-08-12 |
Not clear |
| N Takahashi, N Sasagawa, K Suzuki, S Ishiur. The CUG-binding protein binds specifically to UG dinucleotide repeats in a yeast three-hybrid system. Biochemical and biophysical research communications. vol 277. issue 2. 2000-11-30. PMID:11032753. |
the cug-binding protein (cug-bp) has been reported to be involved in the pathogenesis of myotonic dystrophy (dm) through binding to a cug trinucleotide repeat located in the 3' untranslated region (3'utr) of the dm protein kinase (dmpk) gene. |
2000-11-30 |
2023-08-12 |
Not clear |
| L T Lam, Y C Pham, T M Nguyen, G E Morri. Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart. Human molecular genetics. vol 9. issue 14. 2000-11-21. PMID:10958655. |
characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, dmpk, is expressed almost exclusively in muscle and heart. |
2000-11-21 |
2023-08-12 |
human |
| L T Lam, Y C Pham, T M Nguyen, G E Morri. Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart. Human molecular genetics. vol 9. issue 14. 2000-11-21. PMID:10958655. |
myotonic dystrophy (dm) is a multisystemic disorder caused by an inherited ctg repeat expansion which affects three genes encoding the dm protein kinase (dmpk), a homeobox protein six5 and a protein containing wd repeats. |
2000-11-21 |
2023-08-12 |
human |
| C I Berul, C T Maguire, J Gehrmann, S Redd. Progressive atrioventricular conduction block in a mouse myotonic dystrophy model. Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing. vol 4. issue 2. 2000-10-27. PMID:10936001. |
a murine model of myotonic dystrophy has been designed by targeted disruption of the myotonic dystrophy protein kinase (dmpk) gene. |
2000-10-27 |
2023-08-12 |
mouse |
| M A Narang, J D Waring, L A Sabourin, R G Kornelu. Myotonic dystrophy (DM) protein kinase levels in congenital and adult DM patients. European journal of human genetics : EJHG. vol 8. issue 7. 2000-10-26. PMID:10909850. |
myotonic dystrophy is caused by a (ctg)n trinucleotide repeat expansion located in the 3' untranslated region of the myotonic dystrophy protein kinase gene (dmpk). |
2000-10-26 |
2023-08-12 |
Not clear |
| J W Miller, C R Urbinati, P Teng-Umnuay, M G Stenberg, B J Byrne, C A Thornton, M S Swanso. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. The EMBO journal. vol 19. issue 17. 2000-10-24. PMID:10970838. |
myotonic dystrophy (dm1) is an autosomal dominant neuromuscular disorder associated with a (ctg)(n) expansion in the 3'-untranslated region of the dm1 protein kinase (dmpk) gene. |
2000-10-24 |
2023-08-12 |
human |
| A Mankodi, E Logigian, L Callahan, C McClain, R White, D Henderson, M Krym, C A Thornto. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science (New York, N.Y.). vol 289. issue 5485. 2000-09-21. PMID:10976074. |
myotonic dystrophy (dm), the most common form of muscular dystrophy in adult humans, results from expansion of a ctg repeat in the 3' untranslated region of the dmpk gene. |
2000-09-21 |
2023-08-12 |
mouse |
| S J Tapscot. Deconstructing myotonic dystrophy. Science (New York, N.Y.). vol 289. issue 5485. 2000-09-21. PMID:11001736. |
although the pathology usually results from production of a defective protein, myotonic dystrophy (dm) has proved to be a puzzle because the expanded repeats appear in a non-coding region of the affected dmpk gene. |
2000-09-21 |
2023-08-12 |
mouse |
| A Inukai, M Doyu, T Kato, Y Liang, S Kuru, M Yamamoto, Y Kobayashi, G Sobu. Reduced expression of DMAHP/SIX5 gene in myotonic dystrophy muscle. Muscle & nerve. vol 23. issue 9. 2000-09-20. PMID:10951446. |
in myotonic dystrophy (dm), the expansion of ctg triplet repeats in the 3'-untranslated region of dm-protein kinase (dmpk) is a causal gene mutation. |
2000-09-20 |
2023-08-12 |
Not clear |
| J P Mounsey, J E John, S M Helmke, E W Bush, J Gilbert, A D Roses, M B Perryman, L R Jones, J R Moorma. Phospholemman is a substrate for myotonic dystrophy protein kinase. The Journal of biological chemistry. vol 275. issue 30. 2000-08-31. PMID:10811636. |
the genetic abnormality in myotonic muscular dystrophy, multiple ctg repeats lie upstream of a gene that encodes a novel protein kinase, myotonic dystrophy protein kinase (dmpk). |
2000-08-31 |
2023-08-12 |
xenopus_laevis |
| G Tiscornia, M S Mahadeva. Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios. Molecular cell. vol 5. issue 6. 2000-08-15. PMID:10911990. |
myotonic dystrophy: the role of the cug triplet repeats in splicing of a novel dmpk exon and altered cytoplasmic dmpk mrna isoform ratios. |
2000-08-15 |
2023-08-12 |
Not clear |
| G Tiscornia, M S Mahadeva. Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios. Molecular cell. vol 5. issue 6. 2000-08-15. PMID:10911990. |
the mechanism by which (ctg)n expansion in the 3' utr of the dmpk gene causes myotonic dystrophy (dm) is unknown. |
2000-08-15 |
2023-08-12 |
Not clear |
| E W Bush, S M Helmke, R A Birnbaum, M B Perryma. Myotonic dystrophy protein kinase domains mediate localization, oligomerization, novel catalytic activity, and autoinhibition. Biochemistry. vol 39. issue 29. 2000-08-15. PMID:10913253. |
human myotonic dystrophy protein kinase (dmpk) is a member of a novel class of multidomain protein kinases that regulate cell size and shape in a variety of organisms. |
2000-08-15 |
2023-08-12 |
human |
| M Eriksson, T Ansved, L Edstrom, D J Wells, D J Watt, M Anvret, N Care. Independent regulation of the myotonic dystrophy 1 locus genes postnatally and during adult skeletal muscle regeneration. The Journal of biological chemistry. vol 275. issue 26. 2000-08-10. PMID:10748037. |
myotonic dystrophy is caused by a ctg(n) expansion in the 3'-untranslated region of a serine/threonine protein kinase gene (dmpk), which is flanked by two other genes, dmwd and six5. |
2000-08-10 |
2023-08-12 |
mouse |
| M Shimizu, W Wang, E T Walch, P W Dunne, H F Epstei. Rac-1 and Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase. FEBS letters. vol 475. issue 3. 2000-07-24. PMID:10869570. |
myotonic dystrophy protein kinase (dmpk) is a serine-threonine protein kinase encoded by the myotonic dystrophy (dm) locus on human chromosome 19q13.3. |
2000-07-24 |
2023-08-12 |
human |
| H Seznec, A S Lia-Baldini, C Duros, C Fouquet, C Lacroix, H Hofmann-Radvanyi, C Junien, G Gourdo. Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Human molecular genetics. vol 9. issue 8. 2000-06-23. PMID:10767343. |
myotonic dystrophy (dm) is caused by a ctg repeat expansion in the 3'utr of the dm protein kinase (dmpk) gene. |
2000-06-23 |
2023-08-12 |
mouse |
| T R Klesert, D H Cho, J I Clark, J Maylie, J Adelman, L Snider, E C Yuen, P Soriano, S J Tapscot. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nature genetics. vol 25. issue 1. 2000-06-12. PMID:10802667. |
expansion of a ctg trinucleotide repeat in the 3' utr of the gene dmpk at the dm1 locus on chromosome 19 causes myotonic dystrophy, a dominantly inherited disease characterized by skeletal muscle dystrophy and myotonia, cataracts and cardiac conduction defects. |
2000-06-12 |
2023-08-12 |
mouse |