| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| C Abbruzzese, R Krahe, M Liguori, D Tessarolo, M J Siciliano, T Ashizawa, M Giacanell. Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)? Journal of neurology. vol 243. issue 10. 1997-03-18. PMID:8923304. |
myotonic dystrophy (dm) is associated with an expansion of an unstable (ctg)n repeat in the 3' untranslated region of the dm protein kinase (dmpk) gene on chromosome 19q13.3. |
1997-03-18 |
2023-08-12 |
Not clear |
| G Gourdon, F Radvanyi, A S Lia, C Duros, M Blanche, M Abitbol, C Junien, H Hofmann-Radvany. Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nature genetics. vol 15. issue 2. 1997-03-10. PMID:9020847. |
myotonic dystrophy (dm) is associated with the expansion of a (ctg)n trinucleotide repeat in the 3' untranslated region (utr) of the dm protein kinase gene (dmpk). |
1997-03-10 |
2023-08-12 |
mouse |
| G Jansen, P J Groenen, D Bächner, P H Jap, M Coerwinkel, F Oerlemans, W van den Broek, B Gohlsch, D Pette, J J Plomp, P C Molenaar, M G Nederhoff, C J van Echteld, M Dekker, A Berns, H Hameister, B Wiering. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nature genetics. vol 13. issue 3. 1996-08-12. PMID:8673131. |
myotonic dystrophy (dm) is commonly associated with ctg repeat expansions within the gene for dm-protein kinase (dmpk). |
1996-08-12 |
2023-08-12 |
mouse |
| S Reddy, D B Smith, M M Rich, J M Leferovich, P Reilly, B M Davis, K Tran, H Rayburn, R Bronson, D Cros, R J Balice-Gordon, D Housma. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nature genetics. vol 13. issue 3. 1996-08-12. PMID:8673132. |
myotonic dystrophy (dm) is an autosomal dominant disorder resulting from the expansion of a ctg repeat in the 3' untranslated region of a putative protein kinase (dmpk). |
1996-08-12 |
2023-08-12 |
mouse |
| R Chakraborty, D N Stivers, R Deka, L M Yu, M D Shriver, R E Ferrel. Segregation distortion of the CTG repeats at the myotonic dystrophy locus. American journal of human genetics. vol 59. issue 1. 1996-08-01. PMID:8659513. |
myotonic dystrophy (dm), an autosomal dominant neuromuscular disease, is caused by a ctg-repeat expansion, with affected individuals having > or = 50 repeats of this trinucleotide, at the dmpk locus of human chromosome 19q13.3. |
1996-08-01 |
2023-08-12 |
human |
| U Galderisi, M Cipollaro, M A Melone, G Iacomino, G Di Bernardo, G Galano, R Contrufo, V Zappia, A Cascin. Myotonic dystrophy: antisense oligonucleotide inhibition of DMPK gene expression in vitro. Biochemical and biophysical research communications. vol 221. issue 3. 1996-06-21. PMID:8630033. |
myotonic dystrophy: antisense oligonucleotide inhibition of dmpk gene expression in vitro. |
1996-06-21 |
2023-08-12 |
Not clear |
| C A Boucher, S K King, N Carey, R Krahe, C L Winchester, S Rahman, T Creavin, P Meghji, M E Bailey, F L Chartie. A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Human molecular genetics. vol 4. issue 10. 1996-04-18. PMID:8595416. |
myotonic dystrophy (dm) is associated with a (ctg)n trinucleotide repeat expansion in the 3'-untranslated region of a protein kinase-encoding gene, dmpk, which maps to chromosome 19q13.3. |
1996-04-18 |
2023-08-12 |
mouse |
| H Yamagata, T Miki, M Nakagawa, K Johnson, R Deka, T Ogihar. Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation. Human genetics. vol 97. issue 2. 1996-03-07. PMID:8566943. |
we have studied linkage disequilibrium between ctg repeats and an alu insertion/deletion polymorphism at the myotonin protein kinase gene (dmpk) in 102 japanese families, of which 93 were affected with myotonic dystrophy (dm). |
1996-03-07 |
2023-08-12 |
Not clear |
| L Sokol, J T Prcha. Human genome--chromosome no. 19. Casopis lekaru ceskych. vol 134. issue 19. 1995-12-26. PMID:7585875. |
the amplification of gct trinucleotide repeats in myotonic dystrophy protein kinase (dmpk) gene is causative for myotonic dystrophy (dm) and represents a new class of human gene mutations: trinucleotide repeat mutations. |
1995-12-26 |
2023-08-12 |
human |
| R Krahe, T Ashizawa, C Abbruzzese, E Roeder, P Carango, M Giacanelli, V L Funanage, M J Sicilian. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics. vol 28. issue 1. 1995-12-04. PMID:7590731. |
effect of myotonic dystrophy trinucleotide repeat expansion on dmpk transcription and processing. |
1995-12-04 |
2023-08-12 |
Not clear |
| R Krahe, T Ashizawa, C Abbruzzese, E Roeder, P Carango, M Giacanelli, V L Funanage, M J Sicilian. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics. vol 28. issue 1. 1995-12-04. PMID:7590731. |
the myotonic dystrophy (dm) mutation has been identified as an unstable, expanded (ctg)n repeat in the 3' untranslated region of a gene designated dm protein kinase (dmpk). |
1995-12-04 |
2023-08-12 |
Not clear |
| R Krahe, M Eckhart, A O Ogunniyi, B O Osuntokun, M J Siciliano, T Ashizaw. De novo myotonic dystrophy mutation in a Nigerian kindred. American journal of human genetics. vol 56. issue 5. 1995-05-24. PMID:7726160. |
an expansion of an unstable (ctg)n trinucleotide repeat in the 3' utr of a gene encoding a putative serine/threonine protein kinase (dmpk) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (dm) disease phenotype. |
1995-05-24 |
2023-08-12 |
human |
| P Carango, J E Noble, H G Marks, V L Funanag. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics. vol 18. issue 2. 1994-02-22. PMID:8288237. |
absence of myotonic dystrophy protein kinase (dmpk) mrna as a result of a triplet repeat expansion in myotonic dystrophy. |
1994-02-22 |
2023-08-12 |
Not clear |
| P Carango, J E Noble, H G Marks, V L Funanag. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics. vol 18. issue 2. 1994-02-22. PMID:8288237. |
myotonic dystrophy is an autosomally dominant inherited disease in which system-wide abnormalities are caused by a triplet repeat expansion within the 3' untranslated region of the myotonic dystrophy protein kinase (dmpk) gene. |
1994-02-22 |
2023-08-12 |
Not clear |
| P Carango, J E Noble, H G Marks, V L Funanag. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics. vol 18. issue 2. 1994-02-22. PMID:8288237. |
to determine the effect an expanded repeat region has on dmpk expression, we have separated the chromosome 19 homologues from a 36-year-old woman with myotonic dystrophy into different cell lines by way of somatic cell hybridization. |
1994-02-22 |
2023-08-12 |
Not clear |