| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Shira Yanovsky-Dagan, Eliora Cohen, Pauline Megalli, Gheona Altarescu, Oshrat Schonberger, Talia Eldar-Geva, Silvina Epsztejn-Litman, Rachel Eige. DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients. European journal of human genetics : EJHG. 2021-11-15. PMID:34776509. |
dmpk hypermethylation in sperm cells of myotonic dystrophy type 1 patients. |
2021-11-15 |
2023-08-13 |
human |
| Shira Yanovsky-Dagan, Eliora Cohen, Pauline Megalli, Gheona Altarescu, Oshrat Schonberger, Talia Eldar-Geva, Silvina Epsztejn-Litman, Rachel Eige. DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients. European journal of human genetics : EJHG. 2021-11-15. PMID:34776509. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant muscular dystrophy that results from a ctg expansion (50-4000 copies) in the 3' utr of the dmpk gene. |
2021-11-15 |
2023-08-13 |
human |
| Russell J Butterfield, Carina Imburgia, Katie Mayne, Tara Newcomb, Diane M Dunn, Brett Duval, Marcia L Feldkamp, Nicholas E Johnson, Robert B Weis. High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis. Molecular genetics & genomic medicine. vol 9. issue 4. 2021-10-29. PMID:33624941. |
myotonic dystrophy type 1 (dm1) is caused by ctg repeat expansions in the dmpk gene and is the most common form of muscular dystrophy. |
2021-10-29 |
2023-08-13 |
Not clear |
| Rishi R Bhardwaj, Andrea Duchin. Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis. Case reports in gastroenterology. vol 4. issue 1. 2021-10-20. PMID:21103235. |
non-alcoholic steatohepatitis in myotonic dystrophy: dmpk gene mutation, insulin resistance and development of steatohepatitis. |
2021-10-20 |
2023-08-12 |
Not clear |
| Rishi R Bhardwaj, Andrea Duchin. Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis. Case reports in gastroenterology. vol 4. issue 1. 2021-10-20. PMID:21103235. |
myotonic dystrophy is a multisystemic disorder characterized by repeat expansion mutations of the dystrophia myotonica protein kinase (dmpk) gene resulting in a defective muscular insulin receptor and insulin resistance. |
2021-10-20 |
2023-08-12 |
Not clear |
| Ineke M J Pruijn, Carla M L van Herpen, Sjoert A H Pegge, Adriana C H van Engen van Grunsven, Marjolijn J Ligtenberg, Frank J A van den Hooge. Myotonic dystrophy and recurrent pleomorphic adenomas: Case report and association hypothesis. Neuromuscular disorders : NMD. vol 30. issue 11. 2021-10-05. PMID:33077317. |
a conceivable association between myotonic dystrophy and pleomorphic adenoma is hypothesized by upregulation of the wnt/beta-catenin signaling pathway, initiated by a decreased expression of microrna, pleomorphic adenoma gene 1 induced beta-catenin accumulations and alterations in tumor suppressor genes and oncogenes due to rna processing defects induced by the expanded repeat in the dmpk gene. |
2021-10-05 |
2023-08-13 |
Not clear |
| Silvie Franck, Lise Barbé, Simon Ardui, Yannick De Vlaeminck, Joke Allemeersch, Dominika Dziedzicka, Claudia Spits, Fien Vanroye, Pierre Hilven, Geoffrey Duqué, Joris R Vermeesch, Alexander Gheldof, Karen Sermo. MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells. Human molecular genetics. vol 29. issue 21. 2021-09-28. PMID:33242073. |
msh2 knock-down shows ctg repeat stability and concomitant upstream demethylation at the dmpk locus in myotonic dystrophy type 1 human embryonic stem cells. |
2021-09-28 |
2023-08-13 |
human |
| Silvie Franck, Lise Barbé, Simon Ardui, Yannick De Vlaeminck, Joke Allemeersch, Dominika Dziedzicka, Claudia Spits, Fien Vanroye, Pierre Hilven, Geoffrey Duqué, Joris R Vermeesch, Alexander Gheldof, Karen Sermo. MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells. Human molecular genetics. vol 29. issue 21. 2021-09-28. PMID:33242073. |
myotonic dystrophy type 1 (dm1) is caused by expansion of a ctg repeat in the dmpk gene, where expansion size and somatic mosaicism correlates with disease severity and age of onset. |
2021-09-28 |
2023-08-13 |
human |
| Seren Marsh, Britt Hanson, Matthew J A Wood, Miguel A Varela, Thomas C Robert. Application of CRISPR-Cas9-Mediated Genome Editing for the Treatment of Myotonic Dystrophy Type 1. Molecular therapy : the journal of the American Society of Gene Therapy. vol 28. issue 12. 2021-09-14. PMID:33171139. |
myotonic dystrophy type 1 (dm1) is a debilitating multisystemic disorder, caused by expansion of a ctg microsatellite repeat in the 3' untranslated region of the dmpk (dystrophia myotonica protein kinase) gene. |
2021-09-14 |
2023-08-13 |
Not clear |
| Ashish N Rao, Hannah M Campbell, Xiangnan Guan, Tarah A Word, Xander Ht Wehrens, Zheng Xia, Thomas A Coope. Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy. JCI insight. vol 6. issue 5. 2021-08-23. PMID:33497365. |
myotonic dystrophy type 1 (dm1) is caused by a ctg repeat expansion in the dmpk gene. |
2021-08-23 |
2023-08-13 |
mouse |
| Ramesh S Yadava, Qing Yu, Mahua Mandal, Frank Rigo, C Frank Bennett, Mani S Mahadeva. Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA. Human molecular genetics. vol 29. issue 9. 2021-08-12. PMID:32242217. |
myotonic dystrophy type 1 (dm1), the most common adult muscular dystrophy, is an autosomal dominant disorder caused by an expansion of a (ctg)n tract within the 3' untranslated region (3'utr) of the dystrophia myotonica protein kinase (dmpk) gene. |
2021-08-12 |
2023-08-13 |
mouse |
| Maria Margarita Lopez-Titla, Amanda Chirino, Sara Vanessa Cruz Solis, Carlos R Hernandez-Castillo, Rosalinda Diaz, Luz Del Carmen Márquez-Quiroz, Jonathan J Magaña, Luis Beltrán-Parrazal, Juan Fernandez-Rui. Cognitive Decline and White Matter Integrity Degradation in Myotonic Dystrophy Type I. Journal of neuroimaging : official journal of the American Society of Neuroimaging. vol 31. issue 1. 2021-07-14. PMID:32936994. |
cognitive decline and white matter integrity degradation in myotonic dystrophy type i. myotonic dystrophy type i (dm1) is a neurodegenerative, genetic, and multisystemic disorder with a large variety of symptoms due to a ctg trinucleotide expansion located on dystrophia myotonica protein kinase (dmpk) gene. |
2021-07-14 |
2023-08-13 |
Not clear |
| Daisuke Nakatsu, Misa Matsui, Yuki Yonenobu, Keiko Toyooka, Kimiko Inoue, Toshio Sait. [A case study of a patient with myotonic dystrophy type 1 whose gait disturbance was improved by gait training with hybrid assistive limbs]. Rinsho shinkeigaku = Clinical neurology. vol 61. issue 6. 2021-07-01. PMID:34011806. |
she was diagnosed genetically as having myotonic dystrophy type 1 at 47 years old with 160-270 ctg repeats on the dmpk gene. |
2021-07-01 |
2023-08-13 |
Not clear |
| Sara Leddy, Laura Serra, Davide Esposito, Camilla Vizzotto, Giovanni Giulietti, Gabriella Silvestri, Antonio Petrucci, Giovanni Meola, Leonardo Lopiano, Mara Cercignani, Marco Bozzal. Lesion distribution and substrate of white matter damage in myotonic dystrophy type 1: Comparison with multiple sclerosis. NeuroImage. Clinical. vol 29. 2021-06-25. PMID:33516936. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant condition caused by expansion of the ctg triplet repeats within the myotonic dystrophy protein of the kinase (dmpk) gene. |
2021-06-25 |
2023-08-13 |
human |
| Qi Yin, Hongye Wang, Na Li, Yifu Ding, Zhenfei Xie, Lifang Jin, Yan Li, Qiong Wang, Xinyi Liu, Liuqing Xu, Qing Li, Yongjian Ma, Yanbo Cheng, Kai Wang, Cuiqing Zhong, Qian Yu, Wei Tang, Wanjin Chen, Wenjun Yang, Fan Zhang, Chen Ding, Lan Bao, Bin Zhou, Ping Hu, Jinsong L. Dosage effect of multiple genes accounts for multisystem disorder of myotonic dystrophy type 1. Cell research. vol 30. issue 2. 2021-05-27. PMID:31853004. |
multisystem manifestations in myotonic dystrophy type 1 (dm1) may be due to dosage reduction in multiple genes induced by aberrant expansion of ctg repeats in dmpk, including dmpk, its neighboring genes (six5 or dmwd) and downstream mbnl1. |
2021-05-27 |
2023-08-13 |
mouse |
| Quynh Nguyen, Toshifumi Yokot. Degradation of Toxic RNA in Myotonic Dystrophy Using Gapmer Antisense Oligonucleotides. Methods in molecular biology (Clifton, N.J.). vol 2176. 2021-03-17. PMID:32865785. |
myotonic dystrophy (dm) types 1 (dm1) and 2 (dm2) are caused by autosomal dominant gain-of-function rna which are, in turn, created by the expansion of repeat sequences in the dmpk and znf9 genes, respectively. |
2021-03-17 |
2023-08-13 |
Not clear |
| Ranjan Batra, David A Nelles, Daniela M Roth, Florian Krach, Curtis A Nutter, Takahiro Tadokoro, James D Thomas, Łukasz J Sznajder, Steven M Blue, Haydee L Gutierrez, Patrick Liu, Stefan Aigner, Oleksandr Platoshyn, Atsushi Miyanohara, Martin Marsala, Maurice S Swanson, Gene W Ye. The sustained expression of Cas9 targeting toxic RNAs reverses disease phenotypes in mouse models of myotonic dystrophy type 1. Nature biomedical engineering. vol 5. issue 2. 2021-03-12. PMID:32929188. |
myotonic dystrophy type i (dm1) is a multisystemic autosomal-dominant inherited human disorder that is caused by ctg microsatellite repeat expansions (mres) in the 3' untranslated region of dmpk. |
2021-03-12 |
2023-08-13 |
mouse |
| Jun Matsumoto, Masayuki Nakamori, Tatsumasa Okamoto, Asako Murata, Chikara Dohno, Kazuhiko Nakatan. The Dimeric Form of 1,3-Diaminoisoquinoline Derivative Rescued the Mis-splicing of Atp2a1 and Clcn1 Genes in Myotonic Dystrophy Type 1 Mouse Model. Chemistry (Weinheim an der Bergstrasse, Germany). vol 26. issue 63. 2021-02-16. PMID:32449537. |
expanded cug repeat rna in the dystrophia myotonia protein kinase (dmpk) gene causes myotonic dystrophy type 1 (dm1) and sequesters rna processing proteins, such as the splicing factor muscleblind-like 1 protein (mbnl1). |
2021-02-16 |
2023-08-13 |
mouse |
| Manuela Ergoli, Massimo Venditti, Esther Picillo, Sergio Minucci, Luisa Politan. Study of expression of genes potentially responsible for reduced fitness in patients with myotonic dystrophy type 1 and identification of new biomarkers of testicular function. Molecular reproduction and development. vol 87. issue 1. 2021-02-08. PMID:31840338. |
myotonic dystrophy type 1 (dm1) is a multisystemic disorder caused by trinucleotide ctg expansion in dmpk gene, often affecting the neighboring genes. |
2021-02-08 |
2023-08-13 |
Not clear |
| M Spaziani, A Semeraro, E Bucci, F Rossi, M Garibaldi, M A Papassifachis, C Pozza, A Anzuini, A Lenzi, G Antonini, A F Radicion. Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case-control study. Journal of endocrinological investigation. vol 43. issue 5. 2021-02-04. PMID:31786795. |
myotonic dystrophy type 1 (dm1) is a genetic disorder caused by ctg expansion in the dmpk gene. |
2021-02-04 |
2023-08-13 |
human |