| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Katsuhiko Itoh, Takahiro Ebata, Hiroaki Hirata, Takeru Torii, Wataru Sugimoto, Keigo Onodera, Wataru Nakajima, Ikuno Uehara, Daisuke Okuzaki, Shota Yamauchi, Yemima Budirahardja, Takahito Nishikata, Nobuyuki Tanaka, Keiko Kawauch. DMPK is a New Candidate Mediator of Tumor Suppressor p53-Dependent Cell Death. Molecules (Basel, Switzerland). vol 24. issue 17. 2020-01-30. PMID:31480541. |
we found that, in response to dna-damaging agent doxorubicin, expression of myotonic dystrophy protein kinase (dmpk), which is known to upregulate actomyosin contraction, was increased in a p53-dependent manner. |
2020-01-30 |
2023-08-13 |
Not clear |
| Eyleen Corrales, Melissa Vásquez, Baili Zhang, Carolina Santamaría-Ulloa, Patricia Cuenca, Ralf Krahe, Darren G Monckton, Fernando Morale. Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1. PloS one. vol 14. issue 5. 2020-01-14. PMID:31048891. |
analysis of mutational dynamics at the dmpk (ctg)n locus identifies saliva as a suitable dna sample source for genetic analysis in myotonic dystrophy type 1. |
2020-01-14 |
2023-08-13 |
Not clear |
| Lydia Sharp, Diana C Cox, Thomas A Coope. Endurance exercise leads to beneficial molecular and physiological effects in a mouse model of myotonic dystrophy type 1. Muscle & nerve. vol 60. issue 6. 2020-01-13. PMID:31509256. |
myotonic dystrophy type 1 (dm1) is a multisystemic disease caused by expansion of a ctg repeat in the 3' utr of the dystrophia myotonica-protein kinase (dmpk) gene. |
2020-01-13 |
2023-08-13 |
mouse |
| Yanlin Wang, Lei Hao, Hui Li, John D Cleary, Michael P Tomac, Arjun Thapa, Xiuming Guo, Desmond Zeng, Hongcai Wang, MacKezie McRae, Olivia Jastrzemski, Ali Marichen Smith-Fassler, Yuming Xu, Guangbin Xi. Abnormal nuclear aggregation and myotube degeneration in myotonic dystrophy type 1. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 40. issue 6. 2019-12-02. PMID:30891637. |
myotonic dystrophy type 1 (dm1) is caused by ctg nucleotide repeat expansions in the 3'-untranslated region (3'-utr) of the dystrophia myotonica protein kinase (dmpk) gene. |
2019-12-02 |
2023-08-13 |
Not clear |
| Massimo Santoro, Luana Fontana, Marcella Masciullo, Maria Laura Ester Bianchi, Salvatore Rossi, Emanuele Leoncini, Giuseppe Novelli, Annalisa Botta, Gabriella Silvestr. Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1). Biochimica et biophysica acta. vol 1852. issue 12. 2019-11-20. PMID:26391753. |
expansion size and presence of ccg/ctc/cgg sequence interruptions in the expanded ctg array are independently associated to hypermethylation at the dmpk locus in myotonic dystrophy type 1 (dm1). |
2019-11-20 |
2023-08-13 |
Not clear |
| Giovanni Meola, Rosanna Cardan. Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism. Journal of neuromuscular diseases. vol 2. issue s2. 2019-11-20. PMID:27858759. |
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 cnbp. |
2019-11-20 |
2023-08-13 |
Not clear |
| Laura Ludovica Gramegna, Maria Pia Giannoccaro, David Neil Manners, Claudia Testa, Stefano Zanigni, Stefania Evangelisti, Claudio Bianchini, Federico Oppi, Roberto Poda, Patrizia Avoni, Raffaele Lodi, Rocco Liguori, Caterina Tono. Mitochondrial dysfunction in myotonic dystrophy type 1. Neuromuscular disorders : NMD. vol 28. issue 2. 2019-11-14. PMID:29289451. |
the pathophysiological mechanism linking the nucleotide expansion in the dmpk gene to the clinical manifestations of myotonic dystrophy type 1 (dm1) is still unclear. |
2019-11-14 |
2023-08-13 |
Not clear |
| Marisa Cappella, Alessandra Perfetti, Beatrice Cardinali, Jose Manuel Garcia-Manteiga, Matteo Carrara, Claudia Provenzano, Paola Fuschi, Rosanna Cardani, Laura Valentina Renna, Giovanni Meola, Germana Falcone, Fabio Martell. High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2. Cell death & disease. vol 9. issue 7. 2019-11-07. PMID:29955039. |
myotonic dystrophy type 1 (dm1) is a multi-systemic disorder caused by abnormally expanded stretches of ctg dna triplets in the dmpk gene, leading to mutated-transcript rna-toxicity. |
2019-11-07 |
2023-08-13 |
Not clear |
| Sumitava Dastidar, Simon Ardui, Kshitiz Singh, Debanjana Majumdar, Nisha Nair, Yanfang Fu, Deepak Reyon, Ermira Samara, Mattia F M Gerli, Arnaud F Klein, Wito De Schrijver, Jaitip Tipanee, Sara Seneca, Warut Tulalamba, Hui Wang, Yoke Chin Chai, Peter In't Veld, Denis Furling, Francesco Saverio Tedesco, Joris R Vermeesch, J Keith Joung, Marinee K Chuah, Thierry VandenDriessch. Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells. Nucleic acids research. vol 46. issue 16. 2019-08-13. PMID:29947794. |
in the current proof-of-principle study, we explored the use of crispr/cas9 for gene-editing in myotonic dystrophy type-1 (dm1), an autosomal-dominant muscle disorder, by excising the ctg-repeat expansion in the 3'-untranslated-region (utr) of the human myotonic dystrophy protein kinase (dmpk) gene in dm1 patient-specific induced pluripotent stem cells (dm1-ipsc), dm1-ipsc-derived myogenic cells and dm1 patient-specific myoblasts. |
2019-08-13 |
2023-08-13 |
human |
| Paola Spitalieri, Rosa V Talarico, Silvia Caioli, Michela Murdocca, Annalucia Serafino, Marco Girasole, Simone Dinarelli, Giovanni Longo, Sabina Pucci, Annalisa Botta, Giuseppe Novelli, Cristina Zona, Ruggiero Mango, Federica Sangiuol. Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes. Journal of molecular and cellular cardiology. vol 118. 2019-06-25. PMID:29551391. |
myotonic dystrophy type 1 (dm1) is a multisystemic disease, autosomal dominant, caused by a ctg repeat expansion in dmpk gene. |
2019-06-25 |
2023-08-13 |
human |
| Adrien Ben Hamou, Stéphanie Espiard, Christine Do Cao, Miriam Ladsous, Camille Loyer, Alexandre Moerman, Samuel Boury, Maéva Kyheng, Claire-Marie Dhaenens, Vincent Tiffreau, Pascal Pigny, Gilles Lebuffe, Robert Caiazzo, Sébastien Aubert, Marie Christine Vantyghe. Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance. Orphanet journal of rare diseases. vol 14. issue 1. 2019-04-19. PMID:30760283. |
myotonic dystrophy (dm1), a neuromuscular disease related to dmpk gene mutations, is associated to endocrine disorders and cancer. |
2019-04-19 |
2023-08-13 |
Not clear |
| Yanlin Wang, Zhilei Wang, Huifang Sun, Changhe Shi, Jing Yang, Yutao Liu, Han Liu, Shoutao Zhang, Li Zhang, Yuming Xu, Jin Zhan. Generation of induced pluripotent stem cell line(ZZUi006-A)from a patient with myotonic dystrophy type 1. Stem cell research. vol 32. 2019-04-15. PMID:30216892. |
myotonic dystrophy type 1 (dm1) is a dominantly inherited neurodegenerative disease caused by a ctg repeat expansion close to the dmpk gene. |
2019-04-15 |
2023-08-13 |
Not clear |
| Mitsuru Furuta, Takashi Kimura, Masayuki Nakamori, Tsuyoshi Matsumura, Harutoshi Fujimura, Kenji Jinnai, Masanori P Takahashi, Hideki Mochizuki, Hiroo Yoshikaw. Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1. Neuroreport. vol 29. issue 3. 2019-04-04. PMID:29381654. |
myotonic dystrophy type i (dm1) is a multiorgan disease caused by ctg-repeat expansion in the dmpk gene. |
2019-04-04 |
2023-08-13 |
Not clear |
| Sarah A Cumming, Mark J Hamilton, Yvonne Robb, Helen Gregory, Catherine McWilliam, Anneli Cooper, Berit Adam, Josephine McGhie, Graham Hamilton, Pawel Herzyk, Michael R Tschannen, Elizabeth Worthey, Richard Petty, Bob Ballantyne, Jon Warner, Maria Elena Farrugia, Cheryl Longman, Darren G Monckto. De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1. European journal of human genetics : EJHG. vol 26. issue 11. 2019-03-15. PMID:29967337. |
myotonic dystrophy type 1 (dm1) is a multisystem disorder, caused by expansion of a ctg trinucleotide repeat in the 3'-untranslated region of the dmpk gene. |
2019-03-15 |
2023-08-13 |
Not clear |
| Sarah J Overby, Estefanía Cerro-Herreros, Beatriz Llamusi, Ruben Arter. RNA-mediated therapies in myotonic dystrophy. Drug discovery today. vol 23. issue 12. 2019-03-13. PMID:30086404. |
myotonic dystrophy 1 (dm1) is a multisystemic neuromuscular disease caused by a dominantly inherited 'ctg' repeat expansion in the gene encoding dm protein kinase (dmpk). |
2019-03-13 |
2023-08-13 |
mouse |
| Samantha LoRusso, Benjamin Weiner, W David Arnol. Myotonic Dystrophies: Targeting Therapies for Multisystem Disease. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 15. issue 4. 2019-03-12. PMID:30341596. |
there are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a ctg repeat expansion in the dmpk gene, and type 2 is caused by a cctg repeat expansion in the cnbp gene. |
2019-03-12 |
2023-08-13 |
Not clear |
| Nelson S Winkler, Margherita Milone, Jennifer M Martinez-Thompson, Harish Raja, Ross A Aleff, Sanjay V Patel, Michael P Fautsch, Eric D Wieben, Keith H Barat. Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1. Investigative ophthalmology & visual science. vol 59. issue 7. 2019-03-04. PMID:30025114. |
rna toxicity from ctg trinucleotide repeat (tnr) expansion within noncoding dna of the transcription factor 4 (tcf4) and dm1 protein kinase (dmpk) genes has been described in fuchs' endothelial corneal dystrophy (fecd) and myotonic dystrophy, type 1 (dm1), respectively. |
2019-03-04 |
2023-08-13 |
Not clear |
| Claudia De Siena, Rosanna Cardani, Elisa Brigonzi, Francesca Bosè, Barbara Fossati, Giovanni Meola, Elena Costa, Rea Valapert. Incidence of amplification failure in DMPK allele due to allelic dropout event in a diagnostic laboratory. Clinica chimica acta; international journal of clinical chemistry. vol 484. 2018-12-11. PMID:29803895. |
myotonic dystrophy type 1 (dm1) is caused by an expanded ctg repeat in the non-coding 3' utr of the dmpk gene. |
2018-12-11 |
2023-08-13 |
human |
| Junko Ueki, Masayuki Nakamori, Masahiro Nakamura, Misato Nishikawa, Yoshinori Yoshida, Azusa Tanaka, Asuka Morizane, Masayoshi Kamon, Toshiyuki Araki, Masanori P Takahashi, Akira Watanabe, Nobuya Inagaki, Hidetoshi Sakura. Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability. Scientific reports. vol 7. 2018-10-30. PMID:28211918. |
myotonic dystrophy type 1 (dm1) is an autosomal-dominant multi-system disease caused by expanded ctg repeats in dystrophia myotonica protein kinase (dmpk). |
2018-10-30 |
2023-08-13 |
human |
| Youjin Wang, Ruth M Pfeiffer, Rotana Alsaggaf, Wilhelmine Meeraus, Julia C Gage, Lesley A Anderson, Renée C Bremer, Nikoletta Nikolenko, Hanns Lochmuller, Mark H Greene, Shahinaz M Gadall. Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink. International journal of cancer. vol 142. issue 6. 2018-10-10. PMID:29114849. |
myotonic dystrophy type 1 (dm1) is an inherited multisystem neuromuscular disorder caused by a ctg trinucleotide repeat expansion in the dmpk gene. |
2018-10-10 |
2023-08-13 |
Not clear |