All Relations between Myotonic Dystrophy and dmpk

Publication Sentence Publish Date Extraction Date Species
Warunee Dansithong, Cordula M Wolf, Partha Sarkar, Sharan Paul, Andy Chiang, Ian Holt, Glenn E Morris, Dorothy Branco, Megan C Sherwood, Lucio Comai, Charles I Berul, Sita Redd. Cytoplasmic CUG RNA foci are insufficient to elicit key DM1 features. PloS one. vol 3. issue 12. 2009-02-23. PMID:19092997. the genetic basis of myotonic dystrophy type i (dm1) is the expansion of a ctg tract located in the 3' untranslated region of dmpk. 2009-02-23 2023-08-12 mouse
Erin B Harmon, Michelle L Harmon, Tricia D Larsen, Alicia F Paulson, M Benjamin Perryma. Myotonic dystrophy protein kinase is expressed in embryonic myocytes and is required for myotube formation. Developmental dynamics : an official publication of the American Association of Anatomists. vol 237. issue 9. 2009-01-16. PMID:18729234. myotonic dystrophy (dm1) is a multi-systemic disease caused by a triplet nucleotide repeat expansion in the 3' untranslated region of the gene coding for myotonic dystrophy protein kinase (dmpk). 2009-01-16 2023-08-12 mouse
A Botta, F Rinaldi, C Catalli, L Vergani, E Bonifazi, V Romeo, E Loro, A Viola, C Angelini, G Novell. The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients. Journal of medical genetics. vol 45. issue 10. 2008-12-10. PMID:18611984. myotonic dystrophy type 1 is caused by an unstable (ctg)n repetition located in the 3'utr of the dm protein kinase gene (dmpk). 2008-12-10 2023-08-12 Not clear
Nikolaos P Mastroyiannopoulos, Elina Chrysanthou, Tassos C Kyriakides, James B Uney, Mani S Mahadevan, Leonidas A Phylacto. The effect of myotonic dystrophy transcript levels and location on muscle differentiation. Biochemical and biophysical research communications. vol 377. issue 2. 2008-12-05. PMID:18930030. in myotonic dystrophy type i (dm1), nuclear retention of mutant dmpk transcripts compromises muscle cell differentiation. 2008-12-05 2023-08-12 Not clear
Anne-Berit Ekström, Louise Hakenäs-Plate, Lena Samuelsson, Már Tulinius, Elisabet Went. Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 147B. issue 6. 2008-12-04. PMID:18228241. myotonic dystrophy type 1 (dm1) is an autosomal dominant disorder, caused by an expansion of a ctg triplet repeat in the dmpk gene. 2008-12-04 2023-08-12 human
Perla Kaliman, Esther Llagoster. Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. Cellular signalling. vol 20. issue 11. 2008-12-03. PMID:18583094. myotonic dystrophy protein kinase (dmpk) and its role in the pathogenesis of myotonic dystrophy 1. 2008-12-03 2023-08-12 Not clear
Perla Kaliman, Esther Llagoster. Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. Cellular signalling. vol 20. issue 11. 2008-12-03. PMID:18583094. the dm1 mutation consists in the expansion of an unstable ctg-repeat in the 3'-untranslated region of a gene encoding dmpk (myotonic dystrophy protein kinase). 2008-12-03 2023-08-12 Not clear
R Cardani, E Mancinelli, G Saino, L Bonavina, G Meol. A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1. Neuromuscular disorders : NMD. vol 18. issue 8. 2008-10-23. PMID:18653337. myotonic dystrophy type 1 (dm1) is an autosomal dominant multisystemic disorder caused by expansion of unstable trinucleotide (ctg) repeats at 3' untranslated region of the dmpk gene on chromosome 19q13.3. 2008-10-23 2023-08-12 human
Libin Zhang, Jerome E Lee, Jeffrey Wilusz, Carol J Wilus. The RNA-binding protein CUGBP1 regulates stability of tumor necrosis factor mRNA in muscle cells: implications for myotonic dystrophy. The Journal of biological chemistry. vol 283. issue 33. 2008-10-03. PMID:18559347. type i myotonic dystrophy (dm1) is caused by a triplet repeat expansion in the 3'-untranslated region (utr) of the dystrophia myotonia protein kinase (dmpk) gene. 2008-10-03 2023-08-12 mouse
N De Temmerman, S Seneca, A Van Steirteghem, P Haentjens, J Van der Elst, I Liebaers, K D Sermo. CTG repeat instability in a human embryonic stem cell line carrying the myotonic dystrophy type 1 mutation. Molecular human reproduction. vol 14. issue 7. 2008-10-01. PMID:18577525. in this report, we describe the behaviour of an expanded ctg repeat in the 3' untranslated region of the dmpk gene in vub03_dm1, a hesc line carrying the myotonic dystrophy type 1 (dm1) mutation compared with the normal ctg repeat in two hesc lines vub01 and vub04_cf. 2008-10-01 2023-08-12 human
Bahareh Shojasaffar, Neda Moradin, Kimia Kahrizi, Ana Maria Cobo, Hossein Najmabad. CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. vol 35. issue 2. 2008-09-24. PMID:18574937. myotonic dystrophy type 1 (dm1) is due to an unstable expansion of ctg repeat in the dmpk gene (19q13.3). 2008-09-24 2023-08-12 Not clear
Esther Llagostera, Daniele Catalucci, Luc Marti, Marc Liesa, Marta Camps, Theodore P Ciaraldi, Richard Kondo, Sita Reddy, Wolfgang H Dillmann, Manuel Palacin, Antonio Zorzano, Pilar Ruiz-Lozano, Ramon Gomis, Perla Kalima. Role of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin action. PloS one. vol 2. issue 11. 2008-08-21. PMID:17987120. role of myotonic dystrophy protein kinase (dmpk) in glucose homeostasis and muscle insulin action. 2008-08-21 2023-08-12 mouse
Esther Llagostera, Daniele Catalucci, Luc Marti, Marc Liesa, Marta Camps, Theodore P Ciaraldi, Richard Kondo, Sita Reddy, Wolfgang H Dillmann, Manuel Palacin, Antonio Zorzano, Pilar Ruiz-Lozano, Ramon Gomis, Perla Kalima. Role of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin action. PloS one. vol 2. issue 11. 2008-08-21. PMID:17987120. myotonic dystrophy 1 (dm1) is caused by a ctg expansion in the 3'-unstranslated region of the dmpk gene, which encodes a serine/threonine protein kinase. 2008-08-21 2023-08-12 mouse
Georgia Kakourou, Seema Dhanjal, Thalia Mamas, Sarah Gotts, Alpesh Doshi, Karen Fordham, Paul Serhal, Domenico M Ranieri, Joy D A Delhanty, Joyce C Harper, Sioban B SenGupt. Preimplantation genetic diagnosis for myotonic dystrophy type 1 in the UK. Neuromuscular disorders : NMD. vol 18. issue 2. 2008-06-09. PMID:18053720. myotonic dystrophy type 1 (dm1) is a dominant multisystemic disorder caused by expansion of a trinucleotide repeat in a non-coding region of dmpk. 2008-06-09 2023-08-12 Not clear
Mario Bermúdez de León, Bulmaro Cisnero. Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms. Journal of neuroscience research. vol 86. issue 1. 2008-04-04. PMID:17549748. myotonic dystrophy type 1 (dm1) is a dominant neuromuscular disorder caused by the expansion of trinucleotide ctg repeats in the 3'-untranslated region (3'-utr) of the dmpk gene. 2008-04-04 2023-08-12 Not clear
James P Orengo, Pierre Chambon, Daniel Metzger, Dennis R Mosier, G Jackson Snipes, Thomas A Coope. Expanded CTG repeats within the DMPK 3' UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. Proceedings of the National Academy of Sciences of the United States of America. vol 105. issue 7. 2008-03-13. PMID:18272483. expanded ctg repeats within the dmpk 3' utr causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy. 2008-03-13 2023-08-12 mouse
M Nakamori, T Kimura, T Kubota, T Matsumura, H Sumi, H Fujimura, M P Takahashi, S Sakod. Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1. Neurology. vol 70. issue 9. 2008-03-07. PMID:18299519. myotonic dystrophy type 1 (dm1) is a multisystemic disorder caused by a ctg repeat expansion in the dmpk gene. 2008-03-07 2023-08-12 Not clear
Céline Guiraud-Dogan, Aline Huguet, Mário Gomes-Pereira, Edith Brisson, Guillaume Bassez, Claudine Junien, Geneviève Gourdo. DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice. Biochimica et biophysica acta. vol 1772. issue 11-12. 2008-02-14. PMID:17950578. myotonic dystrophy (dm1) is a dominant autosomal multisystemic disorder caused by the expansion of an unstable ctg trinucleotide repeat in the 3' untranslated region of the dmpk gene. 2008-02-14 2023-08-12 mouse
N Muge Kuyumcu-Martinez, Guey-Shin Wang, Thomas A Coope. Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Molecular cell. vol 28. issue 1. 2008-02-11. PMID:17936705. the genetic basis of myotonic dystrophy type 1 (dm1) is a ctg expansion in the 3' untranslated region (utr) of dmpk. 2008-02-11 2023-08-12 mouse
L Forga, E Anda, F J Basterra, M J Goñi, F J Pined. [Glucocorticoid hypofunction in myotonic dystrophy]. Anales del sistema sanitario de Navarra. vol 30. issue 2. 2008-01-29. PMID:17898815. myotonic dystrophy (dm1) is an autosomal dominant disorder whose genetic defect consists of the amplification of an unstable ctg trinucleotide repeat in the 3' untranslated region of the dystrophia myotonica protein kinase gene (dmpk). 2008-01-29 2023-08-12 Not clear