| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Leslie A Coonrod, Jeremy R Lohman, J Andrew Berglun. Utilizing the GAAA tetraloop/receptor to facilitate crystal packing and determination of the structure of a CUG RNA helix. Biochemistry. vol 51. issue 42. 2013-01-07. PMID:23025897. |
myotonic dystrophy type 1 (dm1) is a microsatellite expansion disorder caused by the aberrant expansion of ctg repeats in the 3'-untranslated region of the dmpk gene. |
2013-01-07 |
2023-08-12 |
Not clear |
| Bjarne Udd, Ralf Krah. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. The Lancet. Neurology. vol 11. issue 10. 2012-11-29. PMID:22995693. |
in patients with myotonic dystrophy type 1, a (ctg)(n) expansion is present in dmpk, whereas in patients with type 2 disease, there is a (cctg)(n) expansion in cnbp. |
2012-11-29 |
2023-08-12 |
Not clear |
| Yoshihiro Yamashita, Tohru Matsuura, Jun Shinmi, Yoshinobu Amakusa, Akio Masuda, Mikako Ito, Masanobu Kinoshita, Hirokazu Furuya, Koji Abe, Tohru Ibi, Ko Sahashi, Koo Sahashi, Kinji Ohn. Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy. Journal of human genetics. vol 57. issue 6. 2012-11-07. PMID:22513715. |
myotonic dystrophy type 1 (dm1) is an rna gain-of-function disorder in which abnormally expanded ctg repeats of dmpk sequestrate a splicing trans-factor mbnl1 and upregulate another splicing trans-factor cugbp1. |
2012-11-07 |
2023-08-12 |
Not clear |
| Jan Larsen, Olof J Pettersson, Maria Jakobsen, Rune Thomsen, Christina B Pedersen, Jens M Hertz, Niels Gregersen, Thomas J Corydon, Thomas G Jense. Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules. BMC research notes. vol 4. 2012-10-02. PMID:22078098. |
the disease is caused by a triplet expansion in the 3'end of the myotonic dystrophy protein kinase (dmpk) gene. |
2012-10-02 |
2023-08-12 |
human |
| Yiqi Seow, Christopher R Sibley, Matthew J A Woo. Artificial mirtron-mediated gene knockdown: functional DMPK silencing in mammalian cells. RNA (New York, N.Y.). vol 18. issue 7. 2012-08-29. PMID:22647847. |
here we present a design algorithm for artificial mirtrons and demonstrate, for the first time, efficient gene knockdown of myotonic dystrophy protein kinase (dmpk) target sequences in renilla luciferase 3' utr and subsequently pathogenic dmpk mrna, causative of type i myotonic dystrophy, using artificial mirtrons cloned as egfp introns. |
2012-08-29 |
2023-08-12 |
human |
| Koichi Suenaga, Kuang-Yung Lee, Masayuki Nakamori, Yoshiki Tatsumi, Masanori P Takahashi, Harutoshi Fujimura, Kenji Jinnai, Hiroo Yoshikawa, Hongqing Du, Manuel Ares, Maurice S Swanson, Takashi Kimur. Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain. PloS one. vol 7. issue 3. 2012-08-20. PMID:22427994. |
myotonic dystrophy type 1 (dm1) is a multi-systemic disorder caused by a ctg trinucleotide repeat expansion (ctg(exp)) in the dmpk gene. |
2012-08-20 |
2023-08-12 |
mouse |
| F Rinaldi, C Terracciano, V Pisani, R Massa, E Loro, L Vergani, S Di Girolamo, C Angelini, G Gourdon, G Novelli, A Bott. Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues. Neurobiology of disease. vol 45. issue 1. 2012-07-23. PMID:21872659. |
myotonic dystrophy type 1 (dm1) is a complex multisystemic disorder caused by an expansion of a ctg repeat located at the 3' untranslated region (utr) of dmpk on chromosome 19q13.3. |
2012-07-23 |
2023-08-12 |
human |
| Jeremy D Rhodes, Martin C Lott, Sarah L Russell, Vincent Moulton, Julie Sanderson, I Michael Wormstone, David C Broadwa. Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts. Human molecular genetics. vol 21. issue 4. 2012-07-09. PMID:22062891. |
myotonic dystrophy (dm) is caused by a triplet repeat expansion in the non-coding region of either the dmpk (dm1) or cnbp (dm2) gene. |
2012-07-09 |
2023-08-12 |
Not clear |
| Raman Parkesh, Jessica L Childs-Disney, Masayuki Nakamori, Amit Kumar, Eric Wang, Thomas Wang, Jason Hoskins, Tuan Tran, David Housman, Charles A Thornton, Matthew D Disne. Design of a bioactive small molecule that targets the myotonic dystrophy type 1 RNA via an RNA motif-ligand database and chemical similarity searching. Journal of the American Chemical Society. vol 134. issue 10. 2012-07-09. PMID:22300544. |
myotonic dystrophy type 1 (dm1) is a triplet repeating disorder caused by expanded ctg repeats in the 3'-untranslated region of the dystrophia myotonica protein kinase (dmpk) gene. |
2012-07-09 |
2023-08-12 |
mouse |
| Guoqi Liu, Xiaomi Chen, Yanzhe Gao, Todd Lewis, Joanna Barthelemy, Michael Leffa. Altered replication in human cells promotes DMPK (CTG)(n) · (CAG)(n) repeat instability. Molecular and cellular biology. vol 32. issue 9. 2012-06-25. PMID:22354993. |
myotonic dystrophy type 1 (dm1) is associated with expansion of (ctg)(n) · (cag)(n) trinucleotide repeats (tnrs) in the 3' untranslated region (utr) of the dmpk gene. |
2012-06-25 |
2023-08-12 |
human |
| François-Xavier Laurent, Alain Sureau, Arnaud F Klein, François Trouslard, Erwan Gasnier, Denis Furling, Joëlle Mari. New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats. Nucleic acids research. vol 40. issue 7. 2012-06-15. PMID:22156369. |
myotonic dystrophy type i (dm1) is caused by an abnormal expansion of ctg triplets in the 3' utr of the dystrophia myotonica protein kinase (dmpk) gene, leading to the aggregation of the mutant transcript in nuclear rna foci. |
2012-06-15 |
2023-08-12 |
Not clear |
| Sankaralingam Prabhu, Bakthisaran Raman, Tangirala Ramakrishna, Ch Mohan Ra. HspB2/myotonic dystrophy protein kinase binding protein (MKBP) as a novel molecular chaperone: structural and functional aspects. PloS one. vol 7. issue 1. 2012-06-11. PMID:22272249. |
the small heat shock protein, human hspb2, also known as myotonic dystrophy kinase binding protein (mkbp), specifically associates with and activates myotonic dystrophy protein kinase (dmpk), a serine/threonine protein kinase that plays an important role in maintaining muscle structure and function. |
2012-06-11 |
2023-08-12 |
human |
| Catherine Z Chen, Krzysztof Sobczak, Jason Hoskins, Noel Southall, Juan J Marugan, Wei Zheng, Charles A Thornton, Christopher P Austi. Two high-throughput screening assays for aberrant RNA-protein interactions in myotonic dystrophy type 1. Analytical and bioanalytical chemistry. vol 402. issue 5. 2012-05-21. PMID:22218462. |
myotonic dystrophy type 1 (dm1), the most prevalent form of adult muscular dystrophy, is caused by expansion of a ctg repeat in the 3' untranslated region of the dm protein kinase (dmpk) gene. |
2012-05-21 |
2023-08-12 |
Not clear |
| Masayuki Nakamori, Geneviève Gourdon, Charles A Thornto. Stabilization of expanded (CTG)•(CAG) repeats by antisense oligonucleotides. Molecular therapy : the journal of the American Society of Gene Therapy. vol 19. issue 12. 2012-03-22. PMID:21971425. |
myotonic dystrophy type 1 (dm1) is caused by expansion of a ctg repeat in the gene dmpk. |
2012-03-22 |
2023-08-12 |
mouse |
| C Sun, M Van Ghelue, L Tranebjærg, F Thyssen, Ø Nilssen, T Torbergse. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. Clinical genetics. vol 80. issue 6. 2012-02-16. PMID:21204798. |
currently, four genes are identified to be involved in myotonia: the muscle voltage-gated sodium and chloride channel genes scn4a and clcn1, the myotonic dystrophy protein kinase (dmpk) gene, and the cchc-type zinc finger, nucleic acid binding protein gene cnbp. |
2012-02-16 |
2023-08-12 |
Not clear |
| Esther Llagostera, María Jesús Álvarez López, Cecilia Scimia, Daniele Catalucci, Marcelina Párrizas, Pilar Ruiz-Lozano, Perla Kalima. Altered β-adrenergic response in mice lacking myotonic dystrophy protein kinase. Muscle & nerve. vol 45. issue 1. 2012-02-07. PMID:22190319. |
the protein kinase product of the gene mutated in myotonic dystrophy 1 (dmpk) is reported to play a role in cardiac pathophysiology. |
2012-02-07 |
2023-08-12 |
mouse |
| Erin B Harmon, Michelle L Harmon, Tricia D Larsen, Jie Yang, Joseph W Glasford, M Benjamin Perryma. Myotonic dystrophy protein kinase is critical for nuclear envelope integrity. The Journal of biological chemistry. vol 286. issue 46. 2012-01-05. PMID:21949239. |
myotonic dystrophy 1 (dm1) is a multisystemic disease caused by a triplet nucleotide repeat expansion in the 3' untranslated region of the gene coding for myotonic dystrophy protein kinase (dmpk). |
2012-01-05 |
2023-08-12 |
Not clear |
| Jan Radvansky, Andrej Ficek, Ludevit Kadas. Upgrading molecular diagnostics of myotonic dystrophies: multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs. Molecular and cellular probes. vol 25. issue 4. 2011-10-27. PMID:21550396. |
upgrading molecular diagnostics of myotonic dystrophies: multiplexing for simultaneous characterization of the dmpk and znf9 repeat motifs. |
2011-10-27 |
2023-08-12 |
Not clear |
| Dominique Babuty, Bénédicte Lallemand, Valérie Laurent, Nicolas Clémenty, Bertrand Pierre, Laurent Fauchier, Martine Raynaud, Sybille Pellieu. [When do you implant a pacemaker in myotonic dystrophy?]. Presse medicale (Paris, France : 1983). vol 40. issue 7-8. 2011-09-01. PMID:21549556. |
myotonic dystrophy is the most frequent adult form of hereditary muscular dystrophy caused by a mutation on the dmpk gene. |
2011-09-01 |
2023-08-12 |
Not clear |
| Susan A M Mulders, Remco van Horssen, Lieke Gerrits, Miranda B Bennink, Helma Pluk, Roelie T de Boer-van Huizen, Huib J E Croes, Mietske Wijers, Fons A J van de Loo, Jack Fransen, Bé Wieringa, Derick G Wansin. Abnormal actomyosin assembly in proliferating and differentiating myoblasts upon expression of a cytosolic DMPK isoform. Biochimica et biophysica acta. vol 1813. issue 5. 2011-07-18. PMID:21295081. |
dmpk, the product of the mutated gene in myotonic dystrophy type 1, belongs to the subfamily of rho-associated serine-threonine protein kinases, whose members play a role in actin-based cell morphodynamics. |
2011-07-18 |
2023-08-12 |
Not clear |