All Relations between Myotonic Dystrophy and dmpk

Publication Sentence Publish Date Extraction Date Species
Edyta Koscianska, Tomasz M Witkos, Emilia Kozlowska, Marzena Wojciechowska, Wlodzimierz J Krzyzosia. Cooperation meets competition in microRNA-mediated DMPK transcript regulation. Nucleic acids research. vol 43. issue 19. 2016-03-01. PMID:26304544. in the present study, we demonstrate that mirnas regulate the expression of dmpk, the gene mutated in myotonic dystrophy type 1 (dm1), and we provide insight regarding the concerted effect of the mirnas on the dmpk target. 2016-03-01 2023-08-13 Not clear
R Rodríguez, O Hernández-Hernández, J J Magaña, R González-Ramírez, E S García-López, B Cisnero. Altered nuclear structure in myotonic dystrophy type 1-derived fibroblasts. Molecular biology reports. vol 42. issue 2. 2016-02-25. PMID:25307018. myotonic dystrophy type 1 (dm1) is a multisystem genetic disorder caused by a triplet nucleotide repeat expansion in the 3' untranslated region of the dystrophia myotonica-protein kinase (dmpk) gene. 2016-02-25 2023-08-13 Not clear
Anchel González-Barriga, Julia Kranzen, Huib J E Croes, Suzanne Bijl, Walther J A A van den Broek, Ingeborg D G van Kessel, Baziel G M van Engelen, Judith C T van Deutekom, Bé Wieringa, Susan A M Mulders, Derick G Wansin. Cell membrane integrity in myotonic dystrophy type 1: implications for therapy. PloS one. vol 10. issue 3. 2016-02-09. PMID:25799359. myotonic dystrophy type 1 (dm1) is a multisystemic disease caused by toxic rna from a dmpk gene carrying an expanded (ctg•cag)n repeat. 2016-02-09 2023-08-13 mouse
Masayuki Nakamori, Katarzyna Taylor, Hideki Mochizuki, Krzysztof Sobczak, Masanori P Takahash. Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy. Annals of clinical and translational neurology. vol 3. issue 1. 2016-01-19. PMID:26783549. myotonic dystrophy type 1 (dm1) is caused by the expansion of a ctg repeat in the 3' untranslated region of dmpk. 2016-01-19 2023-08-13 Not clear
Sanjay K Pandey, Thurman M Wheeler, Samantha L Justice, Aneeza Kim, Husam S Younis, Danielle Gattis, Dominic Jauvin, Jack Puymirat, Eric E Swayze, Susan M Freier, C Frank Bennett, Charles A Thornton, A Robert MacLeo. Identification and characterization of modified antisense oligonucleotides targeting DMPK in mice and nonhuman primates for the treatment of myotonic dystrophy type 1. The Journal of pharmacology and experimental therapeutics. vol 355. issue 2. 2016-01-04. PMID:26330536. identification and characterization of modified antisense oligonucleotides targeting dmpk in mice and nonhuman primates for the treatment of myotonic dystrophy type 1. 2016-01-04 2023-08-13 mouse
Anthony Chau, Auinash Kalsotr. Developmental insights into the pathology of and therapeutic strategies for DM1: Back to the basics. Developmental dynamics : an official publication of the American Association of Anatomists. vol 244. issue 3. 2015-11-16. PMID:25504326. myotonic dystrophy type 1 (dm1), the most prevalent adult onset muscular dystrophy, is a trinucleotide repeat expansion disease caused by ctg expansion in the 3'-utr of dmpk gene. 2015-11-16 2023-08-13 Not clear
M G Swarovskaya, S K Stepanova, A V Marussin, A L Sukhomyasova, N R Maximova, V A Stepano. [Genetic Variability and Structure of SNP Haplotypes in the DMPK Gene in Yakuts and Other Ethnic Groups of Northern Eurasia in Relation to Myotonic Dystrophy]. Genetika. vol 51. issue 6. 2015-11-09. PMID:26310035. [genetic variability and structure of snp haplotypes in the dmpk gene in yakuts and other ethnic groups of northern eurasia in relation to myotonic dystrophy]. 2015-11-09 2023-08-13 Not clear
M G Swarovskaya, S K Stepanova, A V Marussin, A L Sukhomyasova, N R Maximova, V A Stepano. [Genetic Variability and Structure of SNP Haplotypes in the DMPK Gene in Yakuts and Other Ethnic Groups of Northern Eurasia in Relation to Myotonic Dystrophy]. Genetika. vol 51. issue 6. 2015-11-09. PMID:26310035. the genetic variability of the dmpk locus has been studied in relation to six snp markers (rs2070736, rs572634, rs1799894, rs527221, rs915915, and rs10415988) in yakuts with myotonic dystrophy (md) in the yakut population and in populations of northern eurasia. 2015-11-09 2023-08-13 Not clear
Natsumi Ohsawa, Michinori Koebis, Hiroaki Mitsuhashi, Ichizo Nishino, Shoichi Ishiur. ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1. Genes to cells : devoted to molecular & cellular mechanisms. vol 20. issue 2. 2015-09-18. PMID:25403273. myotonic dystrophy type 1 (dm1) is an rna-mediated disorder characterized by muscle weakness, cardiac defects and multiple symptoms and is caused by expanded ctg repeats within the 3' untranslated region of the dmpk gene. 2015-09-18 2023-08-13 mouse
Giovanni Meola, Rosanna Cardan. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochimica et biophysica acta. vol 1852. issue 4. 2015-09-16. PMID:24882752. myotonic dystrophy type 1 (dm1, steinert's disease) is caused by a (ctg)n expansion in dmpk, while myotonic dystrophy type 2 (dm2) is caused by a (cctg)n expansion in znf9/cnbp. 2015-09-16 2023-08-13 Not clear
Philippa A Dryland, Elaine Doherty, Jennifer M Love, Donald R Lov. Simple Repeat-Primed PCR Analysis of the Myotonic Dystrophy Type 1 Gene in a Clinical Diagnostics Environment. Journal of neurodegenerative diseases. vol 2013. 2015-08-28. PMID:26317000. myotonic dystrophy type 1 is an autosomal dominant neuromuscular disorder that is caused by the expansion of a ctg trinucleotide repeat in the dmpk gene. 2015-08-28 2023-08-13 Not clear
Ashok Kumar, Sarita Agarwal, Sunil Pradha. Haplotype analysis and LD detection at DM1 locus. Gene. vol 567. issue 1. 2015-08-11. PMID:25934189. myotonic dystrophy type 1 (dm1) is the most common form of muscular dystrophy affecting adults and is due to trinucleotide sequence (ctg) in the 3' utr region of dmpk gene located at 19q13.3 chromosome. 2015-08-11 2023-08-13 Not clear
Marzena Wojciechowska, Katarzyna Taylor, Krzysztof Sobczak, Marek Napierala, Wlodzimierz J Krzyzosia. Small molecule kinase inhibitors alleviate different molecular features of myotonic dystrophy type 1. RNA biology. vol 11. issue 6. 2015-07-23. PMID:24824895. expandable (ctg)n repeats in the 3' utr of the dmpk gene are a cause of myotonic dystrophy type 1 (dm1), which leads to a toxic rna gain-of-function disease. 2015-07-23 2023-08-13 human
Olof Joakim Pettersson, Lars Aagaard, Thomas Gryesten Jensen, Christian Kroun Damgaar. Molecular mechanisms in DM1 - a focus on foci. Nucleic acids research. vol 43. issue 4. 2015-07-02. PMID:25605794. myotonic dystrophy type 1 is caused by abnormal expansion of a ctg-trinucleotide repeat in the gene encoding dystrophia myotonica protein kinase (dmpk), which in turn leads to global deregulation of gene expression in affected individuals. 2015-07-02 2023-08-13 Not clear
Agnieszka Wojtkowiak-Szlachcic, Katarzyna Taylor, Ewa Stepniak-Konieczna, Lukasz J Sznajder, Agnieszka Mykowska, Joanna Sroka, Charles A Thornton, Krzysztof Sobcza. Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy. Nucleic acids research. vol 43. issue 6. 2015-06-26. PMID:25753670. myotonic dystrophy type 1 (dm1) is an autosomal dominant multisystemic disorder caused by expansion of ctg triplet repeats in 3'-untranslated region of dmpk gene. 2015-06-26 2023-08-13 mouse
Thomas Pambrun, Aurélie Mercier, Aurélien Chatelier, Sylvie Patri, Jean-Jacques Schott, Solena Le Scouarnec, Mohamed Chahine, Bruno Degand, Patrick Boi. Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation. Heart rhythm. vol 11. issue 8. 2015-04-21. PMID:24768612. myotonic dystrophy type 1 (dm1), a muscular dystrophy due to ctg expansion in the dmpk gene, can cause cardiac conduction disorders and sudden death. 2015-04-21 2023-08-13 Not clear
Elaine deLorimier, Leslie A Coonrod, Jeremy Copperman, Alex Taber, Emily E Reister, Kush Sharma, Peter K Todd, Marina G Guenza, J Andrew Berglun. Modifications to toxic CUG RNAs induce structural stability, rescue mis-splicing in a myotonic dystrophy cell model and reduce toxicity in a myotonic dystrophy zebrafish model. Nucleic acids research. vol 42. issue 20. 2015-03-31. PMID:25303993. cug repeat expansions in the 3' utr of dystrophia myotonica protein kinase (dmpk) cause myotonic dystrophy type 1 (dm1). 2015-03-31 2023-08-13 zebrafish
Maxime Ferreboeuf, Virginie Mariot, Denis Furling, Gillian Butler-Browne, Vincent Mouly, Julie Dumonceau. Nuclear protein spreading: implication for pathophysiology of neuromuscular diseases. Human molecular genetics. vol 23. issue 15. 2015-02-20. PMID:24659496. in myotonic dystrophy type 1, we observed that in human-mouse heterokaryons, the expression of a mutated dmpk from human nuclei titrates splicing factors produced by neighboring nuclei, inducing the mis-splicing of several pre-mrnas in murine nuclei. 2015-02-20 2023-08-12 human
Shagufta Rehman, Jordan T Gladman, Ammasi Periasamy, Yuansheng Sun, Mani S Mahadeva. Development of an AP-FRET based analysis for characterizing RNA-protein interactions in myotonic dystrophy (DM1). PloS one. vol 9. issue 4. 2015-01-22. PMID:24781112. myotonic dystrophy (dm1) is caused by a (ctg)n repeat expansion in the 3' utr of the dmpk gene which results in nuclear retention of mutant dmpk transcripts in rna foci. 2015-01-22 2023-08-13 Not clear
A Kumar, V Kumar, S K Singh, S Muthuswamy, S Agarwa. Imbalanced oxidant and antioxidant ratio in myotonic dystrophy type 1. Free radical research. vol 48. issue 4. 2014-12-08. PMID:24472045. myotonic dystrophy type 1 (dm1) is the most common form of muscular dystrophy affecting adults and is due to trinucleotide sequence (ctg) in the 3' utr region of dmpk gene located at 19q13.3 chromosome. 2014-12-08 2023-08-12 Not clear