| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| b' Jovan Pe\\xc5\\xa1ovi\\xc4\\x87, S Peri\\xc4\\x87, M Brku\\xc5\\xa1anin, G Braju\\xc5\\xa1kovi\\xc4\\x87, V Rako\\xc4\\x8devi\\xc4\\x87-Stojanovi\\xc4\\x87, Du\\xc5\\xa1anka Savi\\xc4\\x87-Pavi\\xc4\\x87evi\\xc4\\x8. Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions. Neurogenetics. vol 18. issue 4. 2018-08-02. PMID:28942489.' |
molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within dmpk expansions. |
2018-08-02 |
2023-08-13 |
Not clear |
| b' Jovan Pe\\xc5\\xa1ovi\\xc4\\x87, S Peri\\xc4\\x87, M Brku\\xc5\\xa1anin, G Braju\\xc5\\xa1kovi\\xc4\\x87, V Rako\\xc4\\x8devi\\xc4\\x87-Stojanovi\\xc4\\x87, Du\\xc5\\xa1anka Savi\\xc4\\x87-Pavi\\xc4\\x87evi\\xc4\\x8. Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions. Neurogenetics. vol 18. issue 4. 2018-08-02. PMID:28942489.' |
myotonic dystrophy type 1 (dm1) is caused by a highly unstable expansion of ctg repeats in the dmpk gene. |
2018-08-02 |
2023-08-13 |
Not clear |
| N M Murillo-Melo, L C Márquez-Quiróz, R Gómez, L Orozco, E Mendoza-Caamal, Y S Tapia-Guerrero, R Camacho-Mejorado, H Cortés, A López-Reyes, C Santana, G Noris, O Hernández-Hernández, B Cisneros, J J Magañ. Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution. Neuromuscular disorders : NMD. vol 27. issue 12. 2018-07-18. PMID:29054426. |
myotonic dystrophy type 1 is caused by expansion of a ctg trinucleotide repeat situated in the dmpk gene. |
2018-07-18 |
2023-08-13 |
Not clear |
| Piotr Konieczny, Estela Selma-Soriano, Anna S Rapisarda, Juan M Fernandez-Costa, Manuel Perez-Alonso, Ruben Arter. Myotonic dystrophy: candidate small molecule therapeutics. Drug discovery today. vol 22. issue 11. 2018-06-27. PMID:28780071. |
myotonic dystrophy type 1 (dm1) is a rare multisystemic neuromuscular disorder caused by expansion of ctg trinucleotide repeats in the noncoding region of the dmpk gene. |
2018-06-27 |
2023-08-13 |
Not clear |
| Estefania Cerro-Herreros, Juan M Fernandez-Costa, María Sabater-Arcis, Beatriz Llamusi, Ruben Arter. Derepressing muscleblind expression by miRNA sponges ameliorates myotonic dystrophy-like phenotypes in Drosophila. Scientific reports. vol 6. 2018-05-22. PMID:27805016. |
myotonic dystrophy type 1 (dm1) originates from alleles of the dmpk gene with hundreds of extra ctg repeats in the 3' untranslated region (3' utr). |
2018-05-22 |
2023-08-13 |
drosophila_melanogaster |
| M Santoro, M Masciullo, G Silvestri, G Novelli, A Bott. Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis. Clinical genetics. vol 92. issue 4. 2018-05-16. PMID:27991661. |
myotonic dystrophy type 1: role of ccg, ctc and cgg interruptions within dmpk alleles in the pathogenesis and molecular diagnosis. |
2018-05-16 |
2023-08-13 |
Not clear |
| M Santoro, M Masciullo, G Silvestri, G Novelli, A Bott. Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis. Clinical genetics. vol 92. issue 4. 2018-05-16. PMID:27991661. |
myotonic dystrophy type 1 (dm1) is a multisystem neuromuscular disease caused by a ctg triplet expansion in the 3'-untranslated region (3'-utr) of dmpk gene. |
2018-05-16 |
2023-08-13 |
Not clear |
| Madhavi Prasad, Rhiannon Hicks, Melissa MacKay, Cam-Tu Nguyen, Craig Campbel. Developmental Milestones and Quality of Life Assessment in a Congenital Myotonic Dystrophy Cohort. Journal of neuromuscular diseases. vol 3. issue 3. 2018-03-15. PMID:27854230. |
congenital myotonic dystrophy (cdm) is a neuromuscular disorder caused by a ctg triplet repeat expansion in the dmpk gene. |
2018-03-15 |
2023-08-13 |
Not clear |
| Sujata Chakraborty, Matteo Vatta, Linda L Bachinski, Ralf Krahe, Stephen Dlouhy, Shaochun Ba. Molecular Diagnosis of Myotonic Dystrophy. Current protocols in human genetics. vol 91. 2018-03-12. PMID:27727437. |
myotonic dystrophy type 1 is caused by ctg repeat expansion in the 3' utr region of the dmpk gene. |
2018-03-12 |
2023-08-13 |
Not clear |
| Guiying Chen, Akio Masuda, Hiroyuki Konishi, Bisei Ohkawara, Mikako Ito, Masanobu Kinoshita, Hiroshi Kiyama, Tohru Matsuura, Kinji Ohn. Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy. Scientific reports. vol 6. 2018-01-25. PMID:27126921. |
myotonic dystrophy type 1 (dm1) is caused by abnormal expansion of ctg repeats in the 3' untranslated region of the dmpk gene. |
2018-01-25 |
2023-08-13 |
mouse |
| Fan Zhang, Nicole E Bodycombe, Keith M Haskell, Yumei L Sun, Eric T Wang, Carl A Morris, Lyn H Jones, Lauren D Wood, Mathew T Pletche. A flow cytometry-based screen identifies MBNL1 modulators that rescue splicing defects in myotonic dystrophy type I. Human molecular genetics. vol 26. issue 16. 2018-01-17. PMID:28535287. |
a flow cytometry-based screen identifies mbnl1 modulators that rescue splicing defects in myotonic dystrophy type i. myotonic dystrophy type 1 (dm1) is a rare genetic disease caused by the expansion of ctg trinucleotide repeats ((ctg)exp) in the 3' untranslated region of the dmpk gene. |
2018-01-17 |
2023-08-13 |
mouse |
| Kassie S Manning, Ashish N Rao, Miguel Castro, Thomas A Coope. BNA ACS chemical biology. vol 12. issue 10. 2017-11-20. PMID:28853853. |
bna myotonic dystrophy type 1 (dm1) is a multisystemic disease caused by an expanded ctg repeat in the 3' utr of the dystrophia myotonica protein kinase (dmpk) gene. |
2017-11-20 |
2023-08-13 |
Not clear |
| Pei-Ying Wang, Yu-Mei Lin, Lee-Hsin Wang, Ting-Yu Kuo, Sin-Jhong Cheng, Guey-Shin Wan. Reduced cytoplasmic MBNL1 is an early event in a brain-specific mouse model of myotonic dystrophy. Human molecular genetics. vol 26. issue 12. 2017-10-12. PMID:28369378. |
myotonic dystrophy type 1 (dm1) is caused by an expansion of ctg repeats in the 3' untranslated region (utr) of the dystrophia myotonia protein kinase (dmpk) gene. |
2017-10-12 |
2023-08-13 |
mouse |
| Aymeric Ravel-Chapuis, Guy Bélanger, Jocelyn Côté, Robin N Michel, Bernard J Jasmi. Misregulation of calcium-handling proteins promotes hyperactivation of calcineurin-NFAT signaling in skeletal muscle of DM1 mice. Human molecular genetics. vol 26. issue 12. 2017-10-12. PMID:28369518. |
myotonic dystrophy type 1 (dm1) is caused by an expansion of cug repeats in dmpk mrnas. |
2017-10-12 |
2023-08-13 |
mouse |
| Mulias Lian, Hai-Yang Law, Caroline G Lee, Samuel S Chon. Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on triplet-primed PCR and melt curve analysis. Expert review of molecular diagnostics. vol 16. issue 11. 2017-10-09. PMID:27665623. |
dmpk ctg-repeat expansions that cause myotonic dystrophy type 1 (dm1) can be detected more rapidly, cost-effectively, and simply by combining triplet-primed pcr (tp-pcr) with melting curve analysis (mca). |
2017-10-09 |
2023-08-13 |
Not clear |
| Long M Luu, Lien Nguyen, Shaohong Peng, JuYeon Lee, Hyang Yeon Lee, Chun-Ho Wong, Paul J Hergenrother, H Y Edwin Chan, Steven C Zimmerma. A Potent Inhibitor of Protein Sequestration by Expanded Triplet (CUG) Repeats that Shows Phenotypic Improvements in a Drosophila Model of Myotonic Dystrophy. ChemMedChem. vol 11. issue 13. 2017-09-19. PMID:27245480. |
myotonic dystrophy is the most common form of adult-onset muscular dystrophy, originating in a ctg repeat expansion in the dmpk gene. |
2017-09-19 |
2023-08-13 |
mouse |
| Àlex L González, Piotr Konieczny, Beatriz Llamusi, Estefanía Delgado-Pinar, José I Borrell, Jordi Teixidó, Enrique García-España, Manuel Pérez-Alonso, Roger Estrada-Tejedor, Rubén Arter. In silico discovery of substituted pyrido[2,3-d]pyrimidines and pentamidine-like compounds with biological activity in myotonic dystrophy models. PloS one. vol 12. issue 6. 2017-09-19. PMID:28582438. |
myotonic dystrophy type 1 (dm1) is a rare multisystemic disorder associated with an expansion of cug repeats in mutant dmpk (dystrophia myotonica protein kinase) transcripts; the main effect of these expansions is the induction of pre-mrna splicing defects by sequestering muscleblind-like family proteins (e.g. |
2017-09-19 |
2023-08-13 |
drosophila_melanogaster |
| V Vinod Mootha, Brock Hansen, Ziye Rong, Pradeep P Mammen, Zhengyang Zhou, Chao Xing, Xin Gon. Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy. Investigative ophthalmology & visual science. vol 58. issue 11. 2017-09-19. PMID:28886202. |
myotonic dystrophy type 1 (dm1) is a neuromuscular disorder caused by a ctg repeat expansion in the 3'-untranslated region (utr) of dmpk. |
2017-09-19 |
2023-08-13 |
human |
| Moon Young Lee, Chanjae Park, Se Eun Ha, Paul J Park, Robyn M Berent, Brian G Jorgensen, Robert D Corrigan, Nathan Grainger, Peter J Blair, Orazio J Slivano, Joseph M Miano, Sean M Ward, Terence K Smith, Kenton M Sanders, Seungil R. Serum response factor regulates smooth muscle contractility via myotonic dystrophy protein kinases and L-type calcium channels. PloS one. vol 12. issue 2. 2017-08-21. PMID:28152551. |
we describe here how srf plays a functional role in the regulation of the smc contractility via myotonic dystrophy protein kinase (dmpk) and l-type calcium channel cacna1c. |
2017-08-21 |
2023-08-13 |
mouse |
| Anke E E G Gudde, Ingeborg D G van Kessel, Laurène M André, Bé Wieringa, Derick G Wansin. Trinucleotide-repeat expanded and normal DMPK transcripts contain unusually long poly(A) tails despite differential nuclear residence. Biochimica et biophysica acta. Gene regulatory mechanisms. vol 1860. issue 6. 2017-08-14. PMID:28435090. |
we compared polyadenylation status between normal and expanded dmpk transcripts in muscle cells and tissues derived from unaffected individuals and patients with myotonic dystrophy type 1 (dm1). |
2017-08-14 |
2023-08-13 |
Not clear |