| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Lisa Kalman, Jack Tarleton, Monica Hitch, Madhuri Hegde, Nick Hjelm, Elizabeth Berry-Kravis, Lili Zhou, James E Hilbert, Elizabeth A Luebbe, Richard T Moxley, Lorraine Toj. Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing. The Journal of molecular diagnostics : JMD. vol 15. issue 4. 2014-02-13. PMID:23680132. |
myotonic dystrophy type 1 (dm1) is caused by expansion of a ctg triplet repeat in the 3' untranslated region of the dmpk gene that encodes a serine-threonine kinase. |
2014-02-13 |
2023-08-12 |
Not clear |
| Judith Rixt Brouwer, Aline Huguet, Annie Nicole, Arnold Munnich, Geneviève Gourdo. Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus. Journal of nucleic acids. vol 2013. 2014-01-23. PMID:24455202. |
an expanded ctg-repeat in the 3' utr of the dmpk gene is responsible for myotonic dystrophy type i (dm1). |
2014-01-23 |
2023-08-12 |
mouse |
| Judith R Brouwer, Laurent Foiry, Geneviève Gourdo. Cell recovery from DM1 transgenic mouse tissue to study (CTG) n instability and DM1 pathogenesis. Methods in molecular biology (Clifton, N.J.). vol 1010. 2014-01-13. PMID:23754230. |
myotonic dystrophy type 1 results from an unstable expanded ctg repeat ((ctg) n ) in the 3' utr of the dmpk gene. |
2014-01-13 |
2023-08-12 |
mouse |
| Zhihua Gao, Thomas A Coope. Reexpression of pyruvate kinase M2 in type 1 myofibers correlates with altered glucose metabolism in myotonic dystrophy. Proceedings of the National Academy of Sciences of the United States of America. vol 110. issue 33. 2013-11-11. PMID:23901116. |
myotonic dystrophy type 1 (dm1) is caused by expansion of ctg repeats in the 3' utr of the dmpk gene. |
2013-11-11 |
2023-08-12 |
mouse |
| Vincent Huin, Francis Vasseur, Susanna Schraen-Maschke, Claire-Marie Dhaenens, Patrick Devos, Kathy Dupont, Nicolas Sergeant, Luc Buée, Arnaud Lacour, Hélène Hofmann-Radvanyi, Bernard Sablonnièr. MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1. Journal of neurology. vol 260. issue 4. 2013-09-26. PMID:23161457. |
myotonic dystrophy type 1 (dm1) is a multisystemic autosomal dominant disorder characterized by a highly variable phenotype and caused by an unstable ctg repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (dmpk) gene. |
2013-09-26 |
2023-08-12 |
Not clear |
| Andrew J Leger, Leocadia M Mosquea, Nicholas P Clayton, I-Huan Wu, Timothy Weeden, Carol A Nelson, Lucy Phillips, Errin Roberts, Peter A Piepenhagen, Seng H Cheng, Bruce M Wentwort. Systemic delivery of a Peptide-linked morpholino oligonucleotide neutralizes mutant RNA toxicity in a mouse model of myotonic dystrophy. Nucleic acid therapeutics. vol 23. issue 2. 2013-09-23. PMID:23308382. |
a ctg repeat element normally resides in the 3' untranslated region of the dystrophia myotonica-protein kinase (dmpk) gene, but when expanded it is the genetic lesion of myotonic dystrophy type 1 (dm1), a hereditary neuromuscular disease. |
2013-09-23 |
2023-08-12 |
mouse |
| Krzysztof Sobczak, Thurman M Wheeler, Wenli Wang, Charles A Thornto. RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy. Molecular therapy : the journal of the American Society of Gene Therapy. vol 21. issue 2. 2013-08-07. PMID:23183533. |
myotonic dystrophy type 1 (dm1) is an rna dominant disease caused by expression of dm protein kinase (dmpk) transcripts that contain an expanded cug repeat (cug(exp)). |
2013-08-07 |
2023-08-12 |
mouse |
| Maria Addis, Marianna Serrenti, Cristiana Meloni, Milena Cau, Maria Antonietta Meli. Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1. Genetic testing and molecular biomarkers. vol 16. issue 12. 2013-07-22. PMID:23030650. |
mutation analysis is based on the detection of the number of ctg triplets in the 3' untranslated region of the myotonic dystrophy protein kinase (dmpk) gene. |
2013-07-22 |
2023-08-12 |
human |
| Ashok Kumar, Sarita Agarwal, Divya Agarwal, Shubha R Phadk. Myotonic dystrophy type 1 (DM1): a triplet repeat expansion disorder. Gene. vol 522. issue 2. 2013-07-15. PMID:23570879. |
the unstable repeat expansions of (ctg)n or (cctg)n in the dmpk and znf9 genes cause the two known subtypes of myotonic dystrophy: (i) myotonic dystrophy type 1 (dm1) and (ii) myotonic dystrophy type 2 (dm2) respectively. |
2013-07-15 |
2023-08-12 |
Not clear |
| Juan M Fernandez-Costa, Amparo Garcia-Lopez, Sheila Zuñiga, Victoria Fernandez-Pedrosa, Amelia Felipo-Benavent, Manuel Mata, Oihane Jaka, Ana Aiastui, Francisco Hernandez-Torres, Begoña Aguado, Manuel Perez-Alonso, Jesus J Vilchez, Adolfo Lopez de Munain, Ruben D Arter. Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients. Human molecular genetics. vol 22. issue 4. 2013-07-05. PMID:23139243. |
myotonic dystrophy type 1 (dm1) is caused by the expansion of ctg repeats in the 3' untranslated region of the dmpk gene. |
2013-07-05 |
2023-08-12 |
drosophila_melanogaster |
| Dara S Berger, Andrea N Lad. Repression of nuclear CELF activity can rescue CELF-regulated alternative splicing defects in skeletal muscle models of myotonic dystrophy. PLoS currents. vol 4. 2013-07-04. PMID:22453899. |
myotonic dystrophy type 1 (dm1) is caused by the expansion of cug repeats in the 3' utr of dmpk transcripts. |
2013-07-04 |
2023-08-12 |
mouse |
| Arto K Orpana, Tho H Ho, Katariina Alagrund, Maaret Ridanpää, Kristiina Aittomäki, Jakob Stenma. Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1. The Journal of molecular diagnostics : JMD. vol 15. issue 1. 2013-06-17. PMID:23159592. |
myotonic dystrophy type 1 (dm1) is an autosomal-dominant disease caused by an expansion of ctg repeats in the 3' untranslated region of the dystrophia myotonica protein kinase (dmpk) gene. |
2013-06-17 |
2023-08-12 |
Not clear |
| Beatriz Llamusi, Ariadna Bargiela, Juan M Fernandez-Costa, Amparo Garcia-Lopez, Raffaella Klima, Fabian Feiguin, Ruben Arter. Muscleblind, BSF and TBPH are mislocalized in the muscle sarcomere of a Drosophila myotonic dystrophy model. Disease models & mechanisms. vol 6. issue 1. 2013-06-06. PMID:23118342. |
myotonic dystrophy type 1 (dm1) is a genetic disease caused by the pathological expansion of a ctg trinucleotide repeat in the 3' utr of the dmpk gene. |
2013-06-06 |
2023-08-12 |
human |
| Aline Huguet, Fadia Medja, Annie Nicole, Alban Vignaud, Céline Guiraud-Dogan, Arnaud Ferry, Valérie Decostre, Jean-Yves Hogrel, Friedrich Metzger, Andreas Hoeflich, Martin Baraibar, Mário Gomes-Pereira, Jack Puymirat, Guillaume Bassez, Denis Furling, Arnold Munnich, Geneviève Gourdo. Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus. PLoS genetics. vol 8. issue 11. 2013-05-13. PMID:23209425. |
myotonic dystrophy type 1 (dm1) is caused by an unstable ctg repeat expansion in the 3'utr of the dm protein kinase (dmpk) gene. |
2013-05-13 |
2023-08-12 |
mouse |
| Sonali P Jog, Sharan Paul, Warunee Dansithong, Stephanie Tring, Lucio Comai, Sita Redd. RNA splicing is responsive to MBNL1 dose. PloS one. vol 7. issue 11. 2013-05-06. PMID:23166594. |
myotonic dystrophy (dm1) is a highly variable, multi-system disorder resulting from the expansion of an untranslated ctg tract in dmpk. |
2013-05-06 |
2023-08-12 |
Not clear |
| M Malatest. Skeletal muscle features in myotonic dystrophy and sarcopenia: do similar nuclear mechanisms lead to skeletal muscle wasting? European journal of histochemistry : EJH. vol 56. issue 3. 2013-04-30. PMID:23027352. |
defects in the mrna maturation pathways have been demonstrated in myotonic dystrophy type 1 (dm1) and type 2 (dm2) whose characteristic multisystemic features are caused by the expansion of two distinct nucleotide sequences: (ctg)n in the dmpk gene on chromosome 19q13 in dm1, and (cctg)n in the znf9 gene on chromosome 3q21 in dm2. |
2013-04-30 |
2023-08-12 |
Not clear |
| Vasavi Mohan, Y R Ahuja, Qurratulain Hasa. Muscular myopathies other than myotonic dystrophy also associated with (CTG)n expansion at the DMPK locus. Journal of pediatric neurosciences. vol 7. issue 3. 2013-04-08. PMID:23560000. |
muscular myopathies other than myotonic dystrophy also associated with (ctg)n expansion at the dmpk locus. |
2013-04-08 |
2023-08-12 |
Not clear |
| Gregor Hagelueken, Hexian Huang, Bradley R Clarke, Tomas Lebl, Chris Whitfield, James H Naismit. Structure of WbdD: a bifunctional kinase and methyltransferase that regulates the chain length of the O antigen in Escherichia coli O9a. Molecular microbiology. vol 86. issue 3. 2013-04-03. PMID:22970759. |
the kinase domain is again fused to an extended c-terminal coiled-coil domain reminiscent of eukaryotic dmpk (myotonic dystrophy protein kinase) family kinases such as rho-associated protein kinase (rock). |
2013-04-03 |
2023-08-12 |
Not clear |
| Anchel González-Barriga, Susan Am Mulders, Jeroen van de Giessen, Jeroen D Hooijer, Suzanne Bijl, Ingeborg Dg van Kessel, Josee van Beers, Judith Ct van Deutekom, Jack Am Fransen, Bé Wieringa, Derick G Wansin. Design and analysis of effects of triplet repeat oligonucleotides in cell models for myotonic dystrophy. Molecular therapy. Nucleic acids. vol 2. 2013-03-21. PMID:23511335. |
myotonic dystrophy type 1 (dm1) is caused by dm protein kinase (dmpk) transcripts containing an expanded (cug)n repeat. |
2013-03-21 |
2023-08-12 |
Not clear |
| Guoqi Liu, Xiaomi Chen, Michael Leffa. Oligodeoxynucleotide binding to (CTG) · (CAG) microsatellite repeats inhibits replication fork stalling, hairpin formation, and genome instability. Molecular and cellular biology. vol 33. issue 3. 2013-03-07. PMID:23166299. |
(ctg)(n) · (cag)(n) trinucleotide repeat (tnr) expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (dmpk) gene causes myotonic dystrophy type 1. |
2013-03-07 |
2023-08-12 |
human |