| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Wenjing Zhang, Yang Wang, Shuyun Dong, Rajarshi Choudhury, Yongfeng Jin, Zefeng Wan. Treatment of type 1 myotonic dystrophy by engineering site-specific RNA endonucleases that target (CUG)(n) repeats. Molecular therapy : the journal of the American Society of Gene Therapy. vol 22. issue 2. 2014-11-26. PMID:24196578. |
myotonic dystrophy type 1 (dm1) is caused by the expansion of (ctg)n in the 3' untranslated region of the dystrophia myotonica-protein kinase (dmpk) gene, which is transcribed as (cug)n repeats that accumulate in the nucleus. |
2014-11-26 |
2023-08-12 |
Not clear |
| Peter K Todd, Feras Y Ackall, Junguk Hur, Kush Sharma, Henry L Paulson, James J Dowlin. Transcriptional changes and developmental abnormalities in a zebrafish model of myotonic dystrophy type 1. Disease models & mechanisms. vol 7. issue 1. 2014-09-08. PMID:24092878. |
myotonic dystrophy type i (dm1) is a multi-system, autosomal dominant disorder caused by expansion of a ctg repeat sequence in the 3'utr of the dmpk gene. |
2014-09-08 |
2023-08-12 |
zebrafish |
| Olof J Pettersson, Lars Aagaard, Diana Andrejeva, Rune Thomsen, Thomas G Jensen, Christian K Damgaar. DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1. Nucleic acids research. vol 42. issue 11. 2014-08-19. PMID:24792155. |
myotonic dystrophy type 1 (dm1) is caused by cug triplet expansions in the 3' utr of dystrophia myotonica protein kinase (dmpk) messenger ribonucleic acid (mrna). |
2014-08-19 |
2023-08-13 |
Not clear |
| Yun Kyoung Kim, Mahua Mandal, Ramesh S Yadava, Luc Paillard, Mani S Mahadeva. Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity. Human molecular genetics. vol 23. issue 2. 2014-08-05. PMID:24001600. |
myotonic dystrophy type 1 (dm1), the most common form of adult-onset muscular dystrophy, is caused by an expanded (ctg)n repeat in the 3' untranslated region of the dm protein kinase (dmpk) gene. |
2014-08-05 |
2023-08-12 |
mouse |
| Christina Wei, Karlie Jones, Nikolai A Timchenko, Lubov Timchenk. GSK3β is a new therapeutic target for myotonic dystrophy type 1. Rare diseases (Austin, Tex.). vol 1. 2014-07-08. PMID:25003008. |
myotonic dystrophy type 1 (dm1), an incurable, neuromuscular disease, is caused by the expansion of ctg repeats within the 3' utr of dmpk on chromosome 19q. |
2014-07-08 |
2023-08-13 |
mouse |
| Giovanni Meol. Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 32. issue 3. 2014-07-07. PMID:24803843. |
myotonic dystrophy type 1 (dm1, steinert's disease) was described more than 100 years ago and is caused by a (ctg)n expansion in dmpk, while myotonic dystrophy type 2 (dm2) was identified only 18 years ago and is caused by a (cctg)n expansion in znf9/cnbp. |
2014-07-07 |
2023-08-13 |
Not clear |
| P Kaminsky, L Prun. [A genetic systemic disease: clinical description of type 1 myotonic dystrophy in adults]. La Revue de medecine interne. vol 33. issue 9. 2014-07-01. PMID:22572587. |
type 1 myotonic dystrophy is an autosomal dominant inherited disorder related to the expansion of a trinucleotide (ctg) repeat in the exon 15 in the 3'-untranslated region of the myotonic dystrophy protein kinase (dmpk) gene. |
2014-07-01 |
2023-08-12 |
Not clear |
| Lubov Timchenk. Molecular mechanisms of muscle atrophy in myotonic dystrophies. The international journal of biochemistry & cell biology. vol 45. issue 10. 2014-06-30. PMID:23796888. |
dm1 and dm2 pathologies are caused by expansion of ctg and cctg repeats in non-coding regions of the genes encoding myotonic dystrophy protein kinase (dmpk) and zinc finger protein 9 (znf9) respectively. |
2014-06-30 |
2023-08-12 |
Not clear |
| Marie-Laure Caillet-Boudin, Francisco-Jose Fernandez-Gomez, Hélène Tran, Claire-Marie Dhaenens, Luc Buee, Nicolas Sergean. Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy. Frontiers in molecular neuroscience. vol 6. 2014-06-24. PMID:24409116. |
myotonic dystrophy (dm) of type 1 and 2 (dm1 and dm2) are inherited autosomal dominant diseases caused by dynamic and unstable expanded microsatellite sequences (ctg and cctg, respectively) in the non-coding regions of the genes dmpk and znf9, respectively. |
2014-06-24 |
2023-08-12 |
Not clear |
| Jordan T Gladman, Mahua Mandal, Varadamurthy Srinivasan, Mani S Mahadeva. Age of onset of RNA toxicity influences phenotypic severity: evidence from an inducible mouse model of myotonic dystrophy (DM1). PloS one. vol 8. issue 9. 2014-06-15. PMID:24039817. |
to address this, we utilized transgenic mice over-expressing the dmpk 3' utr as part of an inducible rna transcript to model early-onset myotonic dystrophy. |
2014-06-15 |
2023-08-12 |
mouse |
| Susmita Singh, Amy Zhang, Stephen Dlouhy, Shaochun Ba. Detection of large expansions in myotonic dystrophy type 1 using triplet primed PCR. Frontiers in genetics. vol 5. 2014-05-05. PMID:24795756. |
myotonic dystrophy type 1 (dm1) is an autosomal dominant neuromuscular disease caused by expansion of a ctg trinucleotide repeat in the dmpk gene. |
2014-05-05 |
2023-08-13 |
Not clear |
| Petrica-Adrian Panaite, Thierry Kuntzer, Geneviève Gourdon, Ibtissam Barakat-Walte. Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length. Respiratory physiology & neurobiology. vol 189. issue 1. 2014-04-30. PMID:23811192. |
myotonic dystrophy (dm1) is a multisystemic disease caused by an expansion of ctg repeats in the region of dmpk, the gene encoding dm protein kinase. |
2014-04-30 |
2023-08-12 |
mouse |
| Denis Furlin. [Misregulation of alternative splicing and microRNA processing in DM1 pathogenesis]. Rinsho shinkeigaku = Clinical neurology. vol 52. issue 11. 2014-04-21. PMID:23196502. |
myotonic dystrophy of type i (dm1) is an autosomal dominant inherited disease caused by an unstable ctg expansion in the 3' non-coding region of the dmpk gene that confers to the mutant transcript a toxic rna gain-of-function. |
2014-04-21 |
2023-08-12 |
mouse |
| Keiko Ishigaki, Ayako Muto, Makiko Osaw. [Clinical features and care of patients with congenital and childhood-onset myotonic dystrophy]. Rinsho shinkeigaku = Clinical neurology. vol 52. issue 11. 2014-04-21. PMID:23196584. |
dm1 results from a trinucleotide expansion in the 3' untranslated region or the gene for myotonic dystrophy protein kinase (dmpk). |
2014-04-21 |
2023-08-12 |
Not clear |
| Ashok Kumar, Sarita Agarwal, Sunil Pradha. Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling. Case reports in medicine. vol 2014. 2014-04-09. PMID:24715907. |
myotonic dystrophy type 1 (dm1) is caused by the expansion of an unstable ctg repeat located in the 3'-utr of (dmpk) the dm protein kinase gene. |
2014-04-09 |
2023-08-13 |
Not clear |
| Stewart M Coleman, Alan R Prescott, Judith E Sleema. Transcriptionally correlated subcellular dynamics of MBNL1 during lens development and their implication for the molecular pathology of myotonic dystrophy type 1. The Biochemical journal. vol 458. issue 2. 2014-04-07. PMID:24354850. |
dm1 (myotonic dystrophy type 1) is caused by elongation of a ctg repeat in the dmpk (dystrophia myotonica-protein kinase) gene. |
2014-04-07 |
2023-08-12 |
Not clear |
| Annalisa Botta, Adriana Malena, Emanuele Loro, Giulia Del Moro, Matteo Suman, Boris Pantic, Gyorgy Szabadkai, Lodovica Vergan. Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells. Genes. vol 4. issue 2. 2014-04-07. PMID:24705164. |
the pathogenesis of myotonic dystrophy type 1 (dm1) is linked to unstable ctg repeats in the dmpk gene which induce the mis-splicing to fetal/neonatal isoforms of many transcripts, including those involved in cellular ca2+ homeostasis. |
2014-04-07 |
2023-08-13 |
Not clear |
| Weon-Jin Ko, Kwang-Yeol Kim, So-Mi Kim, Seung-Jae Hong, Sang-Hoon Lee, Ran Song, Hyung-In Yang, Yeon-Ah Le. A case of myotonic dystrophy with electrolyte imbalance. Journal of Korean medical science. vol 28. issue 7. 2014-03-21. PMID:23853500. |
type 1 myotonic dystrophy (dm1) is an autosomal-dominant inherited disorder with a multisystem involvement, caused by an abnormal expansion of the ctg sequence of the dystrophic myotonia protein kinase (dmpk) gene. |
2014-03-21 |
2023-08-12 |
Not clear |
| B Pantic, E Trevisan, A Citta, M P Rigobello, O Marin, P Bernardi, S Salvatori, A Rasol. Myotonic dystrophy protein kinase (DMPK) prevents ROS-induced cell death by assembling a hexokinase II-Src complex on the mitochondrial surface. Cell death & disease. vol 4. 2014-03-12. PMID:24136222. |
myotonic dystrophy protein kinase (dmpk) prevents ros-induced cell death by assembling a hexokinase ii-src complex on the mitochondrial surface. |
2014-03-12 |
2023-08-12 |
Not clear |
| B Pantic, E Trevisan, A Citta, M P Rigobello, O Marin, P Bernardi, S Salvatori, A Rasol. Myotonic dystrophy protein kinase (DMPK) prevents ROS-induced cell death by assembling a hexokinase II-Src complex on the mitochondrial surface. Cell death & disease. vol 4. 2014-03-12. PMID:24136222. |
the biological functions of myotonic dystrophy protein kinase (dmpk), a serine/threonine kinase whose gene mutations cause myotonic dystrophy type 1 (dm1), remain poorly understood. |
2014-03-12 |
2023-08-12 |
Not clear |