| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Charles A Thornton, Richard Thomas Moxley, Katy Eichinger, Chad Heatwole, Laurence Mignon, W David Arnold, Tetsuo Ashizawa, John W Day, Gersham Dent, Matthew K Tanner, Tina Duong, Ericka P Greene, Laura Herbelin, Nicholas E Johnson, Wendy King, John T Kissel, Doris G Leung, Donovan J Lott, Daniel A Norris, Evan M Pucillo, Wendy Schell, Jeffrey M Statland, Nikia Stinson, Sub H Subramony, Shuting Xia, Kathie M Bishop, C Frank Bennet. Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. The Lancet. Neurology. vol 22. issue 3. 2023-02-21. PMID:36804094. |
antisense oligonucleotide targeting dmpk in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. |
2023-02-21 |
2023-08-14 |
Not clear |
| Charles A Thornton, Richard Thomas Moxley, Katy Eichinger, Chad Heatwole, Laurence Mignon, W David Arnold, Tetsuo Ashizawa, John W Day, Gersham Dent, Matthew K Tanner, Tina Duong, Ericka P Greene, Laura Herbelin, Nicholas E Johnson, Wendy King, John T Kissel, Doris G Leung, Donovan J Lott, Daniel A Norris, Evan M Pucillo, Wendy Schell, Jeffrey M Statland, Nikia Stinson, Sub H Subramony, Shuting Xia, Kathie M Bishop, C Frank Bennet. Antisense oligonucleotide targeting DMPK in patients with myotonic dystrophy type 1: a multicentre, randomised, dose-escalation, placebo-controlled, phase 1/2a trial. The Lancet. Neurology. vol 22. issue 3. 2023-02-21. PMID:36804094. |
myotonic dystrophy type 1 results from an rna gain-of-function mutation, in which dm1 protein kinase (dmpk) transcripts carrying expanded trinucleotide repeats exert deleterious effects. |
2023-02-21 |
2023-08-14 |
Not clear |
| Jessica Stoodley, Francisco Vallejo-Bedia, David Seone-Miraz, Manuel Debasa-Mouce, Matthew J A Wood, Miguel A Varel. Application of Antisense Conjugates for the Treatment of Myotonic Dystrophy Type 1. International journal of molecular sciences. vol 24. issue 3. 2023-02-11. PMID:36769018. |
myotonic dystrophy type 1 (dm1) is one of the most common muscular dystrophies and can be potentially treated with antisense therapy decreasing mutant dmpk, targeting mirnas or their binding sites or via a blocking mechanism for mbnl1 displacement from the repeats. |
2023-02-11 |
2023-08-14 |
mouse |
| Ryu Kawada, Tatsuya Jonouchi, Akihiro Kagita, Masae Sato, Akitsu Hotta, Hidetoshi Sakura. Establishment of quantitative and consistent in vitro skeletal muscle pathological models of myotonic dystrophy type 1 using patient-derived iPSCs. Scientific reports. vol 13. issue 1. 2023-01-11. PMID:36631509. |
myotonic dystrophy type 1 (dm1) is caused by expanded ctg repeats (ctgexp) in the dystrophia myotonica protein kinase (dmpk) gene, and the transcription products, expanded cug repeats, sequester muscleblind like splicing regulator 1 (mbnl1), resulting in the nuclear mbnl1 aggregation in the dm1 cells. |
2023-01-11 |
2023-08-14 |
human |
| Kun Huang, Dan-Dan Wang, Wen-Bao Hu, Wei-Qian Zeng, Xia Xu, Qiu-Xiang Li, Fang-Fang Bi, Huan Yang, Jian Qi. Calcitriol increases MBNL1 expression and alleviates myotonic dystrophy phenotypes in HSA Journal of translational medicine. vol 20. issue 1. 2022-12-12. PMID:36510245. |
calcitriol increases mbnl1 expression and alleviates myotonic dystrophy phenotypes in hsa myotonic dystrophy type 1 (dm1), one of the most common forms of adult-onset muscular dystrophy, is caused by abnormally expanded ctg repeats in the 3' untranslated region of the dmpk gene. |
2022-12-12 |
2023-08-14 |
Not clear |
| Remco T P van Cruchten, Daniël van As, Jeffrey C Glennon, Baziel G M van Engelen, Peter A C 't Hoe. Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood. BMC medicine. vol 20. issue 1. 2022-11-10. PMID:36352383. |
myotonic dystrophy type 1 (dm1) is an incurable multisystem disease caused by a ctg-repeat expansion in the dm1 protein kinase (dmpk) gene. |
2022-11-10 |
2023-08-14 |
Not clear |
| Melissa A Hale, Kameron Bates, Marina Provenzano, Nicholas E Johnso. Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development. Human molecular genetics. 2022-10-12. PMID:36222125. |
myotonic dystrophy type 1 (dm1) is a multi-systemic disorder caused by expansion of ctg microsatellite repeats within dmpk. |
2022-10-12 |
2023-08-14 |
Not clear |
| Fernando Morales, Eyleen Corrales, Melissa Vásquez, Baili Zhang, Huberth Fernández, Fernando Alvarado, Sergio Cortés, Carolina Santamaría-Ulloa, Ralf Krahe, Darren G Monckto. Individual-specific levels of CTG•CAG somatic instability are shared across multiple tissues in myotonic dystrophy type 1. Human molecular genetics. 2022-09-13. PMID:36099027. |
myotonic dystrophy type 1 is a complex disease caused by a genetically unstable ctg repeat expansion in the 3'-untranslated region of the dmpk gene. |
2022-09-13 |
2023-08-14 |
Not clear |
| Siham Ait Benichou, Dominic Jauvin, Thiery De-Serres-Berard, Frank Bennett, Frank Rigo, Geneiviève Gourdon, Mohamed Boutjdir, Mohamed Chahine, Jack Puymira. Enhanced Delivery of Ligand-Conjugated Antisense Oligonucleotides (C16-HA-ASO) Targeting DMPK Transcripts for the Treatment of Myotonic Dystrophy Type 1. Human gene therapy. 2022-07-07. PMID:35794764. |
enhanced delivery of ligand-conjugated antisense oligonucleotides (c16-ha-aso) targeting dmpk transcripts for the treatment of myotonic dystrophy type 1. |
2022-07-07 |
2023-08-14 |
mouse |
| Selma Gulyurtlu, Monika S Magon, Patrick Guest, Panagiotis P Papavasiliou, Kim D Morrison, Alan R Prescott, Judith E Sleema. Condensation properties of stress granules and processing bodies are compromised in Myotonic Dystrophy Type 1. Disease models & mechanisms. 2022-06-01. PMID:35642886. |
myotonic dystrophy type 1 (dm1) is a multi-systemic trinucleotide repeat disorder resulting from a ctg expansion in the dm1 protein kinase gene (dmpk). |
2022-06-01 |
2023-08-13 |
Not clear |
| Kuang-Yung Lee, Carol Seah, Ching Li, Yu-Fu Chen, Chwen-Yu Chen, Ching-I Wu, Po-Cheng Liao, Yu-Chiau Shyu, Hailey R Olafson, Kendra K McKee, Eric T Wang, Chi-Hsiao Yeh, Chao-Hung Wan. Mice lacking MBNL1 and MBNL2 exhibit sudden cardiac death and molecular signatures recapitulating myotonic dystrophy. Human molecular genetics. 2022-05-14. PMID:35567413. |
myotonic dystrophy (dm) is caused by expansions of c(c)tg repeats in the non-coding regions of the dmpk and cnbp genes, and dm patients often suffer from sudden cardiac death due to lethal conduction block or arrhythmia. |
2022-05-14 |
2023-08-13 |
mouse |
| Yuka Iida, Takaaki Hayashi, Teruaki Tokuhisa, Kei Mizobuchi, Shusaku Omoto, Tadashi Nakan. Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy. Documenta ophthalmologica. Advances in ophthalmology. 2022-03-14. PMID:35284965. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant genetic disorder that affects multiple organs, including the muscle and eye, caused by a ctg triplet expansion of the 3' untranslated region (utr) of the dmpk gene. |
2022-03-14 |
2023-08-13 |
Not clear |
| Silvie Franck, Edouard Couvreu De Deckersberg, Jodi L Bubenik, Christina Markouli, Lise Barbé, Joke Allemeersch, Pierre Hilven, Geoffrey Duqué, Maurice S Swanson, Alexander Gheldof, Claudia Spits, D Kare. Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing. Biology open. vol 11. issue 1. 2022-01-12. PMID:35019138. |
myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased cpg methylation at the dmpk locus and rna mis-splicing. |
2022-01-12 |
2023-08-13 |
human |
| Tingting Li, Huifang Sun, Zhuoya Wang, Qi Zhang, Na Chen, Ke Zhang, Yanlin Wang, Yuming X. Generation of induced pluripotent stem cell line (ZZUi015-A) from a DM1 patient with cataract. Stem cell research. vol 58. 2021-12-16. PMID:34915310. |
myotonic dystrophy (dm1) is mainly caused by abnormal number of the ctg repeat sequence of the dmpk gene. |
2021-12-16 |
2023-08-13 |
Not clear |
| b' Laure de Pontual, Genevi\\xc3\\xa8ve Gourdon, St\\xc3\\xa9phanie Tom\\xc3\\xa. [Identification of new factors inducing CTG.CAG repeat contractions in Myotonic Dystrophy type 1]. Medecine sciences : M/S. vol 37 Hors s\\xc3\\xa9rie n\\xc2\\xb0 1. 2021-12-09. PMID:34878385.' |
myotonic dystrophy type 1 (dm1) is a multisystemic neuromuscular disease caused by an abnormal ctg repeat expansion in the 3'utr region of the dmpk gene. |
2021-12-09 |
2023-08-13 |
Not clear |
| Sara Locci, Rosanna Cardani, Paola Brunori, Sabrina Lucchiari, Giacomo P Comi, Antonio Federico, Nicola De Stefano, Giovanni Meola, Andrea Mignarr. Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 42. issue 12. 2021-12-06. PMID:34386887. |
myotonic dystrophy type 1 (dm1) is related to (ctg)n expansion in the 3-untranslated region of the dystrophia myotonica protein kinase (dmpk) gene and is the most frequent and disabling form, causing muscular, visibility, respiratory, and cardiac impairment. |
2021-12-06 |
2023-08-13 |
Not clear |
| Thomas D Gossios, Rui Providencia, Antonio Creta, Oliver R Segal, Nikoletta Nikolenko, Chris Turner, Luis R Lopes, Karim Wahbi, Konstantinos Savvati. An overview of heart rhythm disorders and management in myotonic dystrophy type 1. Heart rhythm. 2021-11-29. PMID:34843968. |
myotonic dystrophy type 1 (dm1) is the commonest adult form of muscular dystrophy, presenting with a constellation of systemic findings secondary to a ctg triplet expansion of the non-coding region of the dmpk gene. |
2021-11-29 |
2023-08-13 |
Not clear |
| Sakhaa Hanoun, Yuyao Sun, Farzad Ebrahimi, Mehdi Ghasem. Speech and language abnormalities in myotonic dystrophy: An overview. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 2021-11-18. PMID:34789418. |
myotonic dystrophy (dm) is an autosomal dominant neuromuscular and multisystem disease that is divided into two types, dm1 and dm2, according to mutations in dmpk and cnbp genes, respectively. |
2021-11-18 |
2023-08-13 |
Not clear |
| Stephen J Winter. Endocrine Dysfunction in Patients With Myotonic Dystrophy. The Journal of clinical endocrinology and metabolism. vol 106. issue 10. 2021-11-16. PMID:34125228. |
myotonic dystrophy is a dominantly inherited multisystem disorder that results from increased ctg repeats in the 3' region of the myotonic dystrophy protein kinase gene (dmpk). |
2021-11-16 |
2023-08-13 |
Not clear |
| Thiéry De Serres-Bérard, Marion Pierre, Mohamed Chahine, Jack Puymira. Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy. Neurobiology of disease. vol 160. 2021-11-15. PMID:34655747. |
myotonic dystrophy type 1 (dm1) is a multisystemic and heterogeneous disorder caused by the expansion of ctg repeats in the 3' utr of the myotonic dystrophy protein kinase (dmpk) gene. |
2021-11-15 |
2023-08-13 |
Not clear |