All Relations between Myotonic Dystrophy and dmpk

Publication Sentence Publish Date Extraction Date Species
S J Tapscott, T R Klesert, R J Widrow, R Stöger, C D Lair. Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes. Current opinion in genetics & development. vol 8. issue 2. 1998-08-05. PMID:9610417. fragile-x syndrome and myotonic dystrophy are caused by triplet repeat expansions embedded in cpg islands in the transcribed non-coding regions of the fmr1 and the dmpk genes, respectively. 1998-08-05 2023-08-12 Not clear
G Okoli, N Carey, K J Johnson, D J Wat. Over expression of the murine myotonic dystrophy protein kinase in the mouse myogenic C2C12 cell line leads to inhibition of terminal differentiation. Biochemical and biophysical research communications. vol 246. issue 3. 1998-07-02. PMID:9618310. myotonic dystrophy (dm) is an autosomal dominant human disorder, caused by the abnormal expansion of a ctg trinucleotide repeat in the 3' untranslated region of a protein kinase gene (dmpk). 1998-07-02 2023-08-12 mouse
O V Malysheva, T E Ivashchenko, T N Vasil'eva, L A Saĭkova, V S Barano. [Allelic polymorphism and analysis of haplotypes of the muscle protein kinase genes and haplotype analysis in residents of northwestern Russia and patients with myotonic dystrophy]. Genetika. vol 34. issue 2. 1998-06-19. PMID:9589858. the distribution of alleles with various ctg-repeat numbers was studied and the haplotypes for polymorphic sites hhai and hinfi of mouse muscle protein kinase (dmpk) were analyzed in inhabitants of northwestern russia and in patients with myotonic dystrophy (90 and 18 chromosomes, respectively). 1998-06-19 2023-08-12 mouse
A Balasubramanyam, D Iyer, J L Stringer, C Beaulieu, A Potvin, A M Neumeyer, J Avruch, H F Epstei. Developmental changes in expression of myotonic dystrophy protein kinase in the rat central nervous system. The Journal of comparative neurology. vol 394. issue 3. 1998-06-18. PMID:9579395. myotonic dystrophy protein kinase (dmpk) is the protein product of the genetic locus associated with myotonic dystrophy, in which alterations of muscle excitability, cardiac conduction defects, mental retardation, and cognitive deficiencies are inherited as an autosomal dominant trait. 1998-06-18 2023-08-12 rat
L A Phylactou, C Darrah, M J Woo. Ribozyme-mediated trans-splicing of a trinucleotide repeat. Nature genetics. vol 18. issue 4. 1998-04-23. PMID:9537423. a group i intron ribozyme (dmpk-rz1) was designed to modify the tre at the 3' end of the human myotonic dystrophy protein kinase (dmpk) transcripts. 1998-04-23 2023-08-12 human
A Suzuki, Y Sugiyama, Y Hayashi, N Nyu-i, M Yoshida, I Nonaka, S Ishiura, K Arahata, S Ohn. MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. The Journal of cell biology. vol 140. issue 5. 1998-04-16. PMID:9490724. here, we identified a novel member of the shsp family that associates specifically with myotonic dystrophy protein kinase (dmpk). 1998-04-16 2023-08-12 Not clear
P Steinbach, D Gläser, W Vogel, M Wolf, S Schwemml. The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. American journal of human genetics. vol 62. issue 2. 1998-04-06. PMID:9463318. the dmpk gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded ctg repeat. 1998-04-06 2023-08-12 Not clear
P Steinbach, D Gläser, W Vogel, M Wolf, S Schwemml. The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. American journal of human genetics. vol 62. issue 2. 1998-04-06. PMID:9463318. using methylation-sensitive restriction enzymes, we characterized the methylation pattern on the 5' side of the ctg repeat in the dmpk gene of normal individuals and of patients affected with myotonic dystrophy, showing expansions of the repetitive sequence. 1998-04-06 2023-08-12 Not clear
A Polański, R Chakraborty, M Kimmel, R Dek. Dynamic balance of segregation distortion and selection maintains normal allele sizes at the myotonic dystrophy locus. Mathematical biosciences. vol 147. issue 1. 1998-01-15. PMID:9401353. myotonic dystrophy (dm), an autosomal dominant neurological disorder, is caused by ctg-repeat expansions at the dmpk locus, with affected individuals having > or = 50 repeats of this trinucleotide. 1998-01-15 2023-08-12 human
A Laurent, J M Costa, B Assouline, M Voyer, M Vidau. Myotonic dystrophy protein kinase gene expression in skeletal muscle from congenitally affected infants. Annales de genetique. vol 40. issue 3. 1998-01-14. PMID:9401107. the mutational basis of dm is an unstable (ctg)n trinucleotide repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene (dmpk). 1998-01-14 2023-08-12 Not clear
R Roberts, N A Timchenko, J W Miller, S Reddy, C T Caskey, M S Swanson, L T Timchenk. Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Proceedings of the National Academy of Sciences of the United States of America. vol 94. issue 24. 1998-01-08. PMID:9371827. myotonic dystrophy (dm) is associated with expansion of ctg repeats in the 3'-untranslated region of the myotonin protein kinase (dmpk) gene. 1998-01-08 2023-08-12 mouse
A A Benders, P J Groenen, F T Oerlemans, J H Veerkamp, B Wiering. Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells. The Journal of clinical investigation. vol 100. issue 6. 1997-12-08. PMID:9294109. myotonic dystrophy (dm), the most prevalent muscular disorder in adults, is caused by (ctg)n-repeat expansion in a gene encoding a protein kinase (dm protein kinase; dmpk) and involves changes in cytoarchitecture and ion homeostasis. 1997-12-08 2023-08-12 mouse
A Laurent, C Pinset, F Auradé, M Vidaud, D Montarra. Expression of myotonic dystrophy protein kinase gene during in vivo and in vitro mouse myogenesis. Cellular and molecular biology (Noisy-le-Grand, France). vol 43. issue 6. 1997-12-01. PMID:9359635. the mutational basis underlying dm consists of an unstable (ctg)n trinucleotide repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene (dmpk). 1997-12-01 2023-08-12 mouse
M Chahine, A L Georg. Myotonic dystrophy kinase modulates skeletal muscle but not cardiac voltage-gated sodium channels. FEBS letters. vol 412. issue 3. 1997-09-11. PMID:9276478. altered modulation of skeletal muscle voltage-gated sodium channels by myotonic dystrophy kinase (dmpk) has been proposed as a possible mechanism underlying myotonia in this disease. 1997-09-11 2023-08-12 mouse
P N Strong, B S Brewste. Myotonic dystrophy: molecular and cellular consequences of expanded DNA repeats are elusive. Journal of inherited metabolic disease. vol 20. issue 2. 1997-09-09. PMID:9211188. the mutation in the myotonic dystrophy (dm) gene is an expansion in a triplet (ctg) repeat in the 3' untranslated region of a novel gene that partially encodes a serine-threonine protein kinase (dmpk), with closest sequence homology to a small subgroup of protein kinases involved in the control of proliferation and cell shape. 1997-09-09 2023-08-12 mouse
T R Klesert, A D Otten, T D Bird, S J Tapscot. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nature genetics. vol 16. issue 4. 1997-08-28. PMID:9241282. myotonic dystrophy, or dystrophia myotonica (dm), is an autosomal dominant multisystem disorder caused by the expansion of a ctg trinucleotide repeat in the 3' untranslated region of the dmpk protein kinase gene on chromosome 19q13.3 (refs 1-3). 1997-08-28 2023-08-12 Not clear
B M Davis, M E McCurrach, K L Taneja, R H Singer, D E Housma. Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proceedings of the National Academy of Sciences of the United States of America. vol 94. issue 14. 1997-08-05. PMID:9207101. expansion of a ctg trinucleotide repeat in the 3' untranslated region (utr) of dmpk, the gene encoding myotonic dystrophy protein kinase, induces the dominantly inherited neuromuscular disorder myotonic dystrophy (dm). 1997-08-05 2023-08-12 Not clear
M G Hamshere, E E Newman, M Alwazzan, B S Athwal, J D Broo. Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proceedings of the National Academy of Sciences of the United States of America. vol 94. issue 14. 1997-08-05. PMID:9207102. transcriptional abnormality in myotonic dystrophy affects dmpk but not neighboring genes. 1997-08-05 2023-08-12 Not clear
M G Hamshere, E E Newman, M Alwazzan, B S Athwal, J D Broo. Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proceedings of the National Academy of Sciences of the United States of America. vol 94. issue 14. 1997-08-05. PMID:9207102. myotonic dystrophy (dm) is caused by the expansion of a trinucleotide repeat, ctg, in the 3' untranslated region of a protein kinase gene, dmpk. 1997-08-05 2023-08-12 Not clear
T Ansved, L Edström, U Grandell, B Hedberg, M Anvre. Variation of CTG-repeat number of the DMPK gene in muscle tissue. Neuromuscular disorders : NMD. vol 7. issue 3. 1997-07-28. PMID:9185177. myotonic dystrophy (dm) is associated with an unstable expansion of ctg repeats located in the 3' untranslated region of a protein kinase-encoding gene (dmpk) on chromosome 19 (19q13.3). 1997-07-28 2023-08-12 Not clear