| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Walther J A A van den Broek, Marcel R Nelen, Derick G Wansink, Marga M Coerwinkel, Hein te Riele, Patricia J T A Groenen, Bé Wiering. Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Human molecular genetics. vol 11. issue 2. 2002-05-07. PMID:11809728. |
our mice carry 'humanized' myotonic dystrophy protein kinase (dmpk) allele(s) with either a (ctg)84 or a (ctg)11 repeat, inserted at the correct position into the endogenous dm locus. |
2002-05-07 |
2023-08-12 |
mouse |
| B Culjković, O Stojković, S Vukosavić, D Savić, V Rakocevic, S Apostolski, S Roma. CTG repeat polymorphism in DMPK gene in healthy Yugoslav population. Acta neurologica Scandinavica. vol 105. issue 1. 2002-05-03. PMID:11903110. |
myotonic dystrophy type 1 (dm1) is caused by large expansions of cytosine-thymine-guanine (ctg)-repeats in myotonic dystrophy protein kinase (dmpk)-gene. |
2002-05-03 |
2023-08-12 |
Not clear |
| Dusanka Savić, Vidosava Rakocvic-Stojanovic, Dusan Keckarevic, Biljana Culjkovic, Oliver Stojkovic, Jelena Mladenovic, Slobodanka Todorovic, Slobodan Apostolski, Stanka Roma. 250 CTG repeats in DMPK is a threshold for correlation of expansion size and age at onset of juvenile-adult DM1. Human mutation. vol 19. issue 2. 2002-03-05. PMID:11793472. |
myotonic dystrophy type 1 (dm1) is associated with an expansion of ctg repeats in the 3'utr of the dmpk gene. |
2002-03-05 |
2023-08-12 |
Not clear |
| H Seznec, O Agbulut, N Sergeant, C Savouret, A Ghestem, N Tabti, J C Willer, L Ourth, C Duros, E Brisson, C Fouquet, G Butler-Browne, A Delacourte, C Junien, G Gourdo. Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Human molecular genetics. vol 10. issue 23. 2002-01-31. PMID:11726559. |
the autosomal dominant mutation causing myotonic dystrophy (dm1) is a ctg repeat expansion in the 3'-utr of the dm protein kinase (dmpk) gene. |
2002-01-31 |
2023-08-12 |
mouse |
| D Furling, D Lemieux, K Taneja, J Puymira. Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts. Neuromuscular disorders : NMD. vol 11. issue 8. 2002-01-25. PMID:11595515. |
decreased levels of myotonic dystrophy protein kinase (dmpk) and delayed differentiation in human myotonic dystrophy myoblasts. |
2002-01-25 |
2023-08-12 |
human |
| D Furling, D Lemieux, K Taneja, J Puymira. Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts. Neuromuscular disorders : NMD. vol 11. issue 8. 2002-01-25. PMID:11595515. |
muscle cell cultures derived from a myotonic dystrophy (dm1) fetus were established in order to determine on the one hand, whether the differentiation of dm1 myoblasts is altered and, on the other hand, whether the levels of myotonic dystrophy protein kinase (dmpk) protein is decreased in dm1 muscle cells. |
2002-01-25 |
2023-08-12 |
human |
| D J Mistry, J R Moorman, S Reddy, J P Mounse. Skeletal muscle Na currents in mice heterozygous for Six5 deficiency. Physiological genomics. vol 6. issue 3. 2002-01-11. PMID:11526199. |
myotonic dystrophy results from a trinucleotide repeat expansion between the myotonic dystrophy protein kinase gene (dmpk), which encodes a serine-threonine protein kinase, and the six5 gene, which encodes a homeodomain protein. |
2002-01-11 |
2023-08-12 |
mouse |
| R Frisch, K R Singleton, P A Moses, I L Gonzalez, P Carango, H G Marks, V L Funanag. Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. Molecular genetics and metabolism. vol 74. issue 1-2. 2001-12-04. PMID:11592825. |
effect of triplet repeat expansion on chromatin structure and expression of dmpk and neighboring genes, six5 and dmwd, in myotonic dystrophy. |
2001-12-04 |
2023-08-12 |
drosophila_melanogaster |
| R Frisch, K R Singleton, P A Moses, I L Gonzalez, P Carango, H G Marks, V L Funanag. Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. Molecular genetics and metabolism. vol 74. issue 1-2. 2001-12-04. PMID:11592825. |
myotonic dystrophy (dm), an autosomal dominant neuromuscular disease, is associated with expansion of a polymorphic (ctg)n repeat in the 3'-untranslated region of the dm protein kinase (dmpk) gene. |
2001-12-04 |
2023-08-12 |
drosophila_melanogaster |
| M Eriksson, B Hedberg, N Carey, T Ansve. Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers. Biochemical and biophysical research communications. vol 286. issue 5. 2001-10-11. PMID:11527424. |
decreased dmpk transcript levels in myotonic dystrophy 1 type iia muscle fibers. |
2001-10-11 |
2023-08-12 |
human |
| M Eriksson, B Hedberg, N Carey, T Ansve. Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers. Biochemical and biophysical research communications. vol 286. issue 5. 2001-10-11. PMID:11527424. |
the repeat lies in the 3' untranslated region of the myotonic dystrophy protein kinase gene (dmpk), and it has been hypothesised that the expansion alters the expression levels of dmpk and/or its neighbouring genes, dmwd and six5. |
2001-10-11 |
2023-08-12 |
human |
| M Eriksson, B Hedberg, N Carey, T Ansve. Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers. Biochemical and biophysical research communications. vol 286. issue 5. 2001-10-11. PMID:11527424. |
levels of dmpk expression were specifically decreased in the type iia fibres of myotonic dystrophy patients, below the levels found in controls. |
2001-10-11 |
2023-08-12 |
human |
| R P Junghans, A Ebralidze, B Tiwar. Does (CUG)n repeat in DMPK mRNA 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy?: A new hypothesis of long-range cis autosomal inactivation. Neurogenetics. vol 3. issue 2. 2001-09-20. PMID:11354827. |
does (cug)n repeat in dmpk mrna 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy? |
2001-09-20 |
2023-08-12 |
Not clear |
| G N Filippova, C P Thienes, B H Penn, D H Cho, Y J Hu, J M Moore, T R Klesert, V V Lobanenkov, S J Tapscot. CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Nature genetics. vol 28. issue 4. 2001-08-16. PMID:11479593. |
an expansion of a ctg repeat at the dm1 locus causes myotonic dystrophy (dm) by altering the expression of the two adjacent genes, dmpk and six5, and through a toxic effect of the repeat-containing rna. |
2001-08-16 |
2023-08-12 |
human |
| F Depardon, B Cisneros, E Alonso-Vilatela, C Montañe. Myotonic dystrophy protein kinase (DMPK) gene expression in lymphocytes of patients with myotonic dystrophy. Archives of medical research. vol 32. issue 2. 2001-08-09. PMID:11343809. |
myotonic dystrophy protein kinase (dmpk) gene expression in lymphocytes of patients with myotonic dystrophy. |
2001-08-09 |
2023-08-12 |
Not clear |
| F Depardon, B Cisneros, E Alonso-Vilatela, C Montañe. Myotonic dystrophy protein kinase (DMPK) gene expression in lymphocytes of patients with myotonic dystrophy. Archives of medical research. vol 32. issue 2. 2001-08-09. PMID:11343809. |
it is associated with a trinucleotide repeat occurring in the 3' (utr) untranslated region of the myotonic dystrophy protein kinase (dmpk) gene. |
2001-08-09 |
2023-08-12 |
Not clear |
| W Piyamongkol, J C Harper, J K Sherlock, A Doshi, P F Serhal, J D Delhanty, D Well. A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR. Prenatal diagnosis. vol 21. issue 3. 2001-07-19. PMID:11260612. |
the most common form of inherited muscular dystrophy in adults is myotonic dystrophy (dm), an autosomal-dominant disease caused by the expansion of an unstable ctg repeat sequence in the 3' untranslated region of the myotonin protein kinase (dmpk) gene. |
2001-07-19 |
2023-08-12 |
Not clear |
| N A Timchenko, Z J Cai, A L Welm, S Reddy, T Ashizawa, L T Timchenk. RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. The Journal of biological chemistry. vol 276. issue 11. 2001-06-21. PMID:11124939. |
expansion of rna cug repeats in the 3'-untranslated repeat of the mutant myotonin protein kinase (dmpk) mrna in myotonic dystrophy (dm) is associated with alterations in binding activity of cugbp1. |
2001-06-21 |
2023-08-12 |
Not clear |
| H Ueda, S Ohno, T Kobayash. Myotonic dystrophy and myotonic dystrophy protein kinase. Progress in histochemistry and cytochemistry. vol 35. issue 3. 2001-05-31. PMID:11064921. |
myotonic dystrophy protein kinase (dmpk) was designated as a gene responsible for myotonic dystrophy (dm) on chromosome 19, because the gene product has extensive homology to protein kinase catalytic domains. |
2001-05-31 |
2023-08-12 |
Not clear |
| A Murányi, R Zhang, F Liu, K Hirano, M Ito, H F Epstein, D J Hartshorn. Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity. FEBS letters. vol 493. issue 2-3. 2001-04-26. PMID:11287000. |
myotonic dystrophy protein kinase (dmpk) and rho-kinase are related. |
2001-04-26 |
2023-08-12 |
Not clear |