| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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. |
targeted deletion of dm15, the mouse orthologue of human dmpk, produced mice with a mild myopathy and cardiac conduction abnormalities, but without other features of myotonic dystrophy, such as myotonia and cataracts. |
2000-06-12 |
2023-08-12 |
mouse |
| C Marchini, R Lonigro, L Verriello, L Pellizzari, P Bergonzi, G Damant. Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy. Clinical genetics. vol 57. issue 1. 2000-04-28. PMID:10733240. |
myotonic dystrophy (dm) is a multisystemic disease caused by the expansion of a ctg repeat, located in the 3'-untranslated region of the dmpk gene. |
2000-04-28 |
2023-08-12 |
human |
| P J Groenen, D G Wansink, M Coerwinkel, W van den Broek, G Jansen, B Wiering. Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties. Human molecular genetics. vol 9. issue 4. 2000-04-14. PMID:10699184. |
constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (dmpk) isoforms with distinct properties. |
2000-04-14 |
2023-08-12 |
mouse |
| P J Groenen, D G Wansink, M Coerwinkel, W van den Broek, G Jansen, B Wiering. Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties. Human molecular genetics. vol 9. issue 4. 2000-04-14. PMID:10699184. |
the genetic defect is a ctg triplet repeat expansion in the 3'-untranslated region of the myotonic dystrophy protein kinase ( dmpk ) gene, consisting of 15 exons. |
2000-04-14 |
2023-08-12 |
mouse |
| S Jin, M Shimizu, A Balasubramanyam, H F Epstei. Myotonic dystrophy protein kinase (DMPK) induces actin cytoskeletal reorganization and apoptotic-like blebbing in lens cells. Cell motility and the cytoskeleton. vol 45. issue 2. 2000-03-15. PMID:10658209. |
myotonic dystrophy protein kinase (dmpk) induces actin cytoskeletal reorganization and apoptotic-like blebbing in lens cells. |
2000-03-15 |
2023-08-12 |
Not clear |
| B Tian, R J White, T Xia, S Welle, D H Turner, M B Mathews, C A Thornto. Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR. RNA (New York, N.Y.). vol 6. issue 1. 2000-02-29. PMID:10668800. |
myotonic dystrophy is caused by an expanded ctg repeat in the 3' untranslated region of the dm protein kinase (dmpk) gene. |
2000-02-29 |
2023-08-12 |
Not clear |
| C Sun, O A Henriksen, L Tranebjaer. Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM. Clinical genetics. vol 56. issue 6. 2000-02-23. PMID:10665666. |
proximal myotonic myopathy (promm) was first described in 1994 as a multisystem disorder with similarity to myotonic dystrophy (dm), but without the abnormal (ctg)n expansion in the dm protein kinase (dmpk) gene. |
2000-02-23 |
2023-08-12 |
Not clear |
| C A Milne, J Hodgki. ETR-1, a homologue of a protein linked to myotonic dystrophy, is essential for muscle development in Caenorhabditis elegans. Current biology : CB. vol 9. issue 21. 1999-12-17. PMID:10556089. |
its closest homologue, cug-binding protein (cug-bp), is a human rbp that has been implicated in the disease myotonic dystrophy and binds cug repeats in the 3' untranslated region (utr) of the mrna for myotonic dystrophy protein kinase (dmpk) [7] [8]. |
1999-12-17 |
2023-08-12 |
human |
| J D Amack, A P Paguio, M S Mahadeva. Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model. Human molecular genetics. vol 8. issue 11. 1999-12-16. PMID:10484765. |
the mutation causing myotonic dystrophy (dm) has been identified as a ctg expansion in the 3'-untranslated region (3'-utr) of the dm protein kinase gene ( dmpk ), but the mechanism(s) of pathogenesis remain unknown. |
1999-12-16 |
2023-08-12 |
mouse |
| S Saba, B A Vanderbrink, B Luciano, M J Aronovitz, C I Berul, S Reddy, D Housman, M E Mendelsohn, N A Estes, P J Wan. Localization of the sites of conduction abnormalities in a mouse model of myotonic dystrophy. Journal of cardiovascular electrophysiology. vol 10. issue 9. 1999-11-09. PMID:10517654. |
a mouse strain lacking functional myotonic dystrophy protein kinase (dmpk) has recently been developed. |
1999-11-09 |
2023-08-12 |
mouse |
| T Watanabe, N Sasagawa, F Usuki, H Koike, N Saitoh, H Sorimachi, K Maruyama, H Nakase, A Takagi, S Ishiura, K Suzuk. Overexpression of myotonic dystrophy protein kinase in C2C12 myogenic culture involved in the expression of ferritin heavy chain and interleukin-1alpha mRNAs. Journal of the neurological sciences. vol 167. issue 1. 1999-11-02. PMID:10500258. |
the specific function of myotonic dystrophy protein kinase (dmpk) is still not known. |
1999-11-02 |
2023-08-12 |
human |
| S Michalowski, J W Miller, C R Urbinati, M Paliouras, M S Swanson, J Griffit. Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein. Nucleic acids research. vol 27. issue 17. 1999-10-21. PMID:10446244. |
myotonic dystrophy (dm) is associated with a (ctg) (n) triplet repeat expansion in the 3'-untranslated region of the myotonic dystrophy protein kinase (dmpk) gene. |
1999-10-21 |
2023-08-12 |
Not clear |
| K Jinnai, T Sugio, M Mitani, K Hashimoto, K Takahash. Elongation of (CTG)n repeats in myotonic dystrophy protein kinase gene in tumors associated with myotonic dystrophy patients. Muscle & nerve. vol 22. issue 9. 1999-09-23. PMID:10454725. |
length of (ctg)n triplet repeats in myotonic dystrophy protein kinase gene (dmpk) was estimated in tumors, normal tissues of the same organs, muscles, and leukocytes from three myotonic dystrophy (dm) patients and a non-dm patient. |
1999-09-23 |
2023-08-12 |
Not clear |
| M Gennarelli, M Pavoni, F Cruciani, G De Stefano, B Dallapiccola, G Novell. CTG repeats distribution and Alu insertion polymorphism at myotonic dystrophy (DM) gene in Amhara and Oromo populations of Ethiopia. Human genetics. vol 105. issue 1-2. 1999-09-23. PMID:10480373. |
myotonic dystrophy (dm) is a dominantly inherited neuromuscular disease, highly variable and multisystemic, which is caused by the expansion of a ctg repeat located in the 3' untranslated region of the dmpk gene. |
1999-09-23 |
2023-08-12 |
Not clear |
| M Gennarelli, M Pavoni, P Amicucci, C Angelini, E Menegazzo, G Zelano, G Novelli, B Dallapiccol. Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients. Neuromuscular disorders : NMD. vol 9. issue 4. 1999-09-01. PMID:10399747. |
myotonic dystrophy (dm) is a multisystemic disease caused by expansion of a ctg trinucleotide repeat in the 3' untranslated region of the dmpk protein kinase gene on chromosome 19q13.3. |
1999-09-01 |
2023-08-12 |
human |
| K M Shama, A Suzuki, K Harada, N Fujitani, H Kimura, S Ohno, K Yoshid. Transient up-regulation of myotonic dystrophy protein kinase-binding protein, MKBP, and HSP27 in the neonatal myocardium. Cell structure and function. vol 24. issue 1. 1999-07-15. PMID:10355872. |
myotonic dystrophy protein kinase (dmpk)-binding protein, mkbp, has high homology with a small heat shock protein, hsp27. |
1999-07-15 |
2023-08-12 |
human |
| Z Korade-Mirnics, J Tarleton, S Servidei, R R Casey, M Gennarelli, E Pegoraro, C Angelini, E P Hoffma. Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression. Human molecular genetics. vol 8. issue 6. 1999-07-08. PMID:10332033. |
myotonic dystrophy (dm), the most common inherited muscle disorder, is caused by a ctg expansion in the 3"-untranslated region of a protein kinase gene ( dmpk ). |
1999-07-08 |
2023-08-12 |
Not clear |
| M Eriksson, T Ansved, L Edström, M Anvret, N Care. Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels. Human molecular genetics. vol 8. issue 6. 1999-07-08. PMID:10332037. |
simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the ctg expansion correlates inversely with dmpk and 59 expression levels, but not dmahp levels. |
1999-07-08 |
2023-08-12 |
Not clear |
| M Eriksson, T Ansved, L Edström, M Anvret, N Care. Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels. Human molecular genetics. vol 8. issue 6. 1999-07-08. PMID:10332037. |
however, in the myotonic dystrophy samples we detected a strong inverse correlation between the repeat size and the levels of expression of dmpk and 59. |
1999-07-08 |
2023-08-12 |
Not clear |
| H Furuya, N Imai, K Shiokawa, J Kir. [Effect on gene expression of the expanded CTG repeat on 3'-untranslated region of myotonic dystrophy (DM) protein kinase]. Nihon rinsho. Japanese journal of clinical medicine. vol 57. issue 4. 1999-06-01. PMID:10222793. |
myotonic dystrophy is an autosomal dominant heritable disease associated with an expansion of ctg trinucleotide repeat within 3' untranslated region of the dmpk gene. |
1999-06-01 |
2023-08-12 |
Not clear |