| 1 | DM1, DMPK
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| Staufen1 Impairs Stress Granule Formation in Skeletal Muscle Cells from Myotonic Dystrophy type 1 Patients.
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| Ravel-Chapuis A, Gunnewiek AK, Bélanger G, Parks TE, Côté J, Jasmin BJ.
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| Mol Biol Cell ol Biol Cell. 2016 Mar 30. pii: mbc.E15-06-0356. [Epub ahead of print]
2016
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| 2 | DMPK
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| Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells.
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| Xia G, Gao Y, Jin S, Subramony SH, Terada N, Ranum LP, Swanson MS, Ashizawa T.
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| Stem Cells 33(6):1829-38. doi: 10.1002/stem.1970.
2015
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| 3 | DDX6, DMPK
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| DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1.
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| Pettersson OJ, Aagaard L, Andrejeva D, Thomsen R, Jensen TG, Damgaard CK.
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| Nucleic Acids Res 42(11):7186-200. doi: 10.1093/nar/gku352. Epub 2014 May 3.
2014
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| 4 | DMPK
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| Longitudinal in vivo muscle function analysis of the DMSXL mouse model of myotonic dystrophy type 1.
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| Decostre V, Vignaud A, Matot B, Huguet A, Ledoux I, Bertil E, Gjata B, Carlier PG, Gourdon G, Hogrel JY.
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| Neuromuscul Disord 23(12):1016-25. doi: 10.1016/j.nmd.2013.07.014. Epub 2013 Aug 12.
2013
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| 5 | DM1, DMPK
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| Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
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| Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT 3rd, Toji L.
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| J Mol Diagn 15(4):518-25. doi: 10.1016/j.jmoldx.2013.03.008. Epub 2013 May 13.
2013
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| 6 | DMPK, LATS2
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| Phosphorylation target site specificity for AGC kinases DMPK E and Lats2.
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| Gerrits L, Venselaar H, Wieringa B, Wansink DG, Hendriks WJ.
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| J Cell Biochem 113(6):2126-35. doi: 10.1002/jcb.24086.
2012
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| 7 | DM1, DMPK
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| Targeting nuclear RNA for in vivo correction of myotonic dystrophy.
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| Wheeler TM, Leger AJ, Pandey SK, MacLeod AR, Nakamori M, Cheng SH, Wentworth BM, Bennett CF, Thornton CA.
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| Nature 488(7409):111-5. doi: 10.1038/nature11362.
2012
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| 8 | DM1, DMPK
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| Altered replication in human cells promotes DMPK (CTG)(n) ˇ (CAG)(n) repeat instability.
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| Liu G, Chen X, Gao Y, Lewis T, Barthelemy J, Leffak M.
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| Mol Cell Biol 32(9):1618-32. doi: 10.1128/MCB.06727-11. Epub 2012 Feb 21.
2012
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| 9 | DM1, DMPK
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| Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.
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| López Castel A, Nakamori M, Tomé S, Chitayat D, Gourdon G, Thornton CA, Pearson CE.
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| Hum Mol Genet 20(1):1-15. Epub 2010 Nov 1.
2011
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| 10 | DMPK
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| Myotonic dystrophy protein kinase is critical for nuclear envelope integrity.
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| Harmon EB, Harmon ML, Larsen TD, Yang J, Glasford JW, Perryman MB.
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| J Biol Chem. 286(46):40296-306. 2011
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| 11 | CNBP, DM1, DM2, DMPK
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| Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges.
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| Sicot G, Gourdon G, Gomes-Pereira M.
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| Hum Mol Genet 20(R2):R116-23. doi: 10.1093/hmg/ddr343. Epub 2011 Aug 5. Review.
2011
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| 12 | CELF1, DM1, DMPK, MBNL1
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| Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1.
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| Koshelev M, Sarma S, Price RE, Wehrens XH, Cooper TA.
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| Hum Mol Genet 19(6):1066-75. Epub 2010 Jan 5.
2010
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| 13 | DM1, DMPK
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| Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
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| Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG.
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| Hum Mol Genet 19(8):1399-412. Epub 2010 Jan 15.PMID: 20080938 2010
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| 14 | DM1, DMPK
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| Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.
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| Cleary JD, Tomé S, López Castel A, Panigrahi GB, Foiry L, Hagerman KA, Sroka H, Chitayat D, Gourdon G, Pearson CE.
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| Nat Struct Mol Biol 17(9):1079-87. Epub 2010 Aug 15.
2010
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| 15 | DM1, DMPK, MBNL1
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| A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding.
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| Arambula JF, Ramisetty SR, Baranger AM, Zimmerman SC.
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| Proc Natl Acad Sci U S A 106(38):16068-73. Epub 2009 Sep 8.PMID: 19805260 2009
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| 16 | DM1, DMPK
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| A tail-anchored myotonic dystrophy protein kinase isoform induces perinuclear clustering of mitochondria, autophagy, and apoptosis.
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| Oude Ophuis RJ, Wijers M, Bennink MB, van de Loo FA, Fransen JA, Wieringa B, Wansink DG.
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| PLoS One 4(11):e8024.PMID: 19946639 2009
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| 17 | DMPK
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| DMPK protein isoforms are differentially expressed in myogenic and neural cell lineages.
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| Oude Ophuis RJ, Mulders SA, van Herpen RE, van de Vorstenbosch R, Wieringa B, Wansink DG.
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| Muscle Nerve 40(4):545-55.PMID: 19626675 2009
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| 18 | DMPK
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| Structure of dystrophia myotonica protein kinase.
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| Elkins JM, Amos A, Niesen FH, Pike AC, Fedorov O, Knapp S.
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| Protein Sci 18(4):782-91.PMID: 19309729 2009
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| 19 | CELF1, DMPK, TNF
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| The RNA-binding protein CUGBP1 regulates stability of tumor necrosis factor mRNA in muscle cells: implications for myotonic dystrophy.
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| Zhang L, Lee JE, Wilusz J, Wilusz CJ.
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| J Biol Chem 283(33):22457-63. Epub 2008 Jun 16. 2008
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| 20 | DM1, DMPK, NXX2-5
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| RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.
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| Yadava RS, Frenzel-McCardell CD, Yu Q, Srinivasan V, Tucker AL, Puymirat J, Thornton CA, Prall OW, Harvey RP, Mahadevan MS.
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| Nat Genet 40(1):61-8. Epub 2007 Dec 16. 2008
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| 21 | DM1, DMPK
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| The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients.
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| Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, Romeo V, Loro E, Viola A, Angelini C, Novelli G.
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| J Med Genet 45(10):639-46. Epub 2008 Jul 8.
2008
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| 22 | DM1, DMPK
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| Correlation among subcortical white matter lesions, intelligence and CTG repeat expansion in classic myotonic dystrophy type 1.
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| Kuo HC, Hsieh YC, Wang HM, Chuang WL, Huang CC.
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| Acta Neurol Scand 117(2):101-7.PMID: 18184345 2008
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| 23 | DM1, DMPK
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| Familial aggregation of white matter lesions in myotonic dystrophy type 1.
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| Di Costanzo A, Santoro L, de Cristofaro M, Manganelli F, Di Salle F, Tedeschi G.
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| Neuromuscul Disord 18(4):299-305. Epub 2008 Mar 11.PMID: 18337099 2008
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| 24 | DMPK
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| Myotonic dystrophy protein kinase is expressed in embryonic myocytes and is required for myotube formation.
|
| Harmon EB, Harmon ML, Larsen TD, Paulson AF, Perryman MB.
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| Dev Dyn. 237(9):2353-66. 2008
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| 25 | DM1, DMPK
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| Patients with primary cataract as a genetic pool of DMPK protomutation.
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| Medica I, Teran N, Volk M, Pfeifer V, Ladavac E, Peterlin B.
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| J Hum Genet 52(2):123-8. Epub 2006 Dec 5. 2007
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| 26 | ATP2A1, DM1, DMPK
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| Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.
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| Hino S, Kondo S, Sekiya H, Saito A, Kanemoto S, Murakami T, Chihara K, Aoki Y, Nakamori M, Takahashi MP, Imaizumi K.
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| Hum Mol Genet 16(23):2834-43. Epub 2007 Aug 29. 2007
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| 27 | CNBP, DM1, DM2, DMPK
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| Myotonic dystrophy: emerging mechanisms for DM1 and DM2.
|
| Cho DH, Tapscott SJ.
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| Biochim Biophys Acta 1772(2):195-204. Epub 2006 Jun 20. Review.
2007
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| 28 | CELF1, DMPK, MBNL1
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| Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy.
|
| Mahadevan MS, Yadava RS, Yu Q, Balijepalli S, Frenzel-McCardell CD, Bourne TD, Phillips LH.
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| Nat Genet 38(9):1066-70. Epub 2006 Jul 30. 2006
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| 29 | DMPK
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| Coiled-coil interactions modulate multimerization, mitochondrial binding and kinase activity of myotonic dystrophy protein kinase splice isoforms.
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| van Herpen RE, Tjeertes JV, Mulders SA, Oude Ophuis RJ, Wieringa B, Wansink DG.
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| FEBS J 273(6):1124-36. 2006
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| 30 | ATP2A1, ATP2A2, DMPK, RYR1
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| Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.
|
| Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S.
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| Hum Mol Genet 14(15):2189-200. Epub 2005 Jun 22. 2005
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| 31 | DMPK, DM1
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| The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions.
|
| Wojciechowska M, Bacolla A, Larson JE, Wells RD.
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| J Biol Chem 280(2):941-52. Epub 2004 Oct 15. 2005
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| 32 | FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
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| Diseases of unstable repeat expansion: mechanisms and common principles.
|
| Gatchel JR, Zoghbi HY.
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| Nat Rev Genet 6(10):743-55. Review. 2005
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| 33 | DMPK, PLN
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| Myotonic dystrophy protein kinase phosphorylates phospholamban and regulates calcium uptake in cardiomyocyte sarcoplasmic reticulum.
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| Kaliman P, Catalucci D, Lam JT, Kondo R, Gutierrez JC, Reddy S, Palacin M, Zorzano A, Chien KR, Ruiz-Lozano P.
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| J Biol Chem 280(9):8016-21. Epub 2004 Dec 13. 2005
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| 34 | DM1, DMPK
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| Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1.
|
| Groh WJ, Lowe MR, Simmons Z, Bhakta D, Pascuzzi RM.
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| Muscle Nerve 31(6):719-24. 2005
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| 35 | DM2, CNBP, DM1, DMPK
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| Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease.
|
| Maurage CA, Udd B, Ruchoux MM, Vermersch P, Kalimo H, Krahe R, Delacourte A, Sergeant N.
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| Neurology 65(10):1636-8. 2005
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| 36 | DMPK
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| Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors.
|
| van Herpen RE, Oude Ophuis RJ, Wijers M, Bennink MB, van de Loo FA, Fransen J, Wieringa B, Wansink DG.
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| Mol Cell Biol. 25(4):1402-14. 2005
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| 37 | DMPK
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| Inhibition of myogenesis in transgenic mice expressing the human DMPK 3'-UTR.
|
| Storbeck CJ, Drmanic S, Daniel K, Waring JD, Jirik FR, Parry DJ, Ahmed N, Sabourin LA, Ikeda JE, Korneluk RG.
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| Hum Mol Genet. 13(6):589-600. 2004
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| 38 | DMPK
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| Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy.
|
| O'Cochlain DF, Perez-Terzic C, Reyes S, Kane GC, Behfar A, Hodgson DM, Strommen JA, Liu XK, van den Broek W, Wansink DG, Wieringa B, Terzic A.
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| Hum Mol Genet. 13(20):2505-18 2004
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| 39 | ACTN4, AURKC, CKM, CYP2B6, CYTH2, DMPK, FOSB, IRF3, ITPKC, MIA, SIX5, VASP
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| The telomeric region of BTA18 containing a potential QTL region for health in cattle exhibits high similarity to the HSA19q region in humans small star, filled
|
| Brunner RM, Sanftleben H, Goldammer T, Kuhn C, Weikard R, Kata SR, Womack JE, Schwerin M.
|
| Genomics 81(3):270-8. 2003
|
| 40 | DM1, DMPK
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| Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1.
|
| Casella M, Lucarelli M, Simili M, Beffy P, Del Carratore R, Minichilli F, Chisari C, Simi S.
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| Cytogenet Genome Res 100(1-4):224-9. 2003
|
| 41 | DMPK
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| Identification of intracellular signaling pathways that induce myotonic dystrophy protein kinase expression during myogenesis.
|
| Carrasco M, Canicio J, Palacin M, Zorzano A, Kaliman P.
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| Endocrinology 143(8):3017-25. 2002
|
| 42 | DMPK
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| Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts
|
| Furling D, Lemieux D, Taneja K, Puymirat J.
|
| Neuromuscul Disord 11(8):728-35. 2001
|
| 43 | DMPK
|
| Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.
|
| Seznec H, Agbulut O, Sergeant N, Savouret C, Ghestem A, Tabti N, Willer JC, Ourth L, Duros C, Brisson E, Fouquet C, Butler-Browne G, Delacourte A, Junien C, Gourdon G.
|
| Hum Mol Genet. 10(23):2717-26. 2001
|
| 44 | DMPK
|
| Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties.
|
| Groenen PJ, Wansink DG, Coerwinkel M, van den Broek W, Jansen G, Wieringa B.
|
| Hum Mol Genet 9(4):605-616. 2000
|
| 45 | DM1, DMPK, MBNL1
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| Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.
|
| Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS.
|
| EMBO J 19(17):4439-4448. 2000
|
| 46 | DMPK
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| Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat.
|
| Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA.
|
| Science 289(5485):1769-73. 2000
|
| 47 | CDC42BPA, CDC42BPB, DMPK
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| Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart.
|
| Lam LT, Pham YC, Man Nt, Morris GE.
|
| Hum Mol Genet 9(14):2167-73. 2000
|
| 48 | DMPK
|
| Myotonic dystrophy protein kinase domains mediate localization, oligomerization, novel catalytic activity, and autoinhibition.
|
| Bush EW, Helmke SM, Birnbaum RA, Perryman MB.
|
| Biochemistry 39(29):8480-90. 2000
|
| 49 | DMPK
|
| Rac-1 and Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase.
|
| Shimizu M, Wang W, Walch ET, Dunne PW, Epstein HF.
|
| FEBS Lett 475(3):273-7. 2000
|
| 50 | DMPK, SIX5
|
| Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.
|
| Winchester CL, Ferrier RK, Sermoni A, Clark BJ, Johnson KJ.
|
| Hum Mol Genet 8 : 481-492. 1999
|
| 51 | DMPK
|
| Decreased expression of myotonic dystrophy protein kinase and disorganization of sarcoplasmic reticulum in skeletal muscle of myotonic dystrophy.
|
| Ueda H, et al.
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| J Neurol Sci 162(1):38-50. 1999
|
| 52 | DM1, DMPK, SIX5
|
| Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.
|
| Korade-Mirnics Z, et al.
|
| Hum Mol Genet 8(6):1017-23. 1999
|
| 53 | DM1, DMPK
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| Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model.
|
| Amack JD, Paguio AP, Mahadevan MS.
|
| Hum Mol Genet 8(11):1975-84. 1999
|
| 54 | DM1, DMPK
|
| Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n (CAG)n repeats from the myotonic dystrophy locus.
|
| Pearson CE, Wang YH, Griffith JD, Sinden RR.
|
| Nucleic Acids Res 26(3):816-23. 1998
|
| 55 | DMPK
|
| Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies.
|
| Pham YC, Man N, Lam LT, Morris GE.
|
| Hum Mol Genet 7 : 1957-1965. 1998
|
| 56 | DMPK
|
| Fluorescence in situ hybridization analysis of the replication properties of the myotonic dystrophy protein kinase (DMPK) gene region.
|
| Rajcan-Separovic E, Bence-Bruckler I, Wells P, Wang H.
|
| Cytogenet Cell Genet 82 : 247-250. 1998
|
| 57 | DM1, DMPK, DMWD, SIX5
|
| Myotonic dystrophy: molecular windows on a complex etiology.
|
| Korade-Mirnics Z, Babitzke P, Hoffman E.
|
| Nucleic Acids Res 26(6):1363-8. Review 1998
|
| 58 | DMPK, HSPB2
|
| MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase.
|
| Suzuki A, Sugiyama Y, Hayashi Y, Nyu-i N, Yoshida M, Nonaka I, Ishiura S, Arahata K, Ohno S.
|
| J Cell Biol 140(5):1113-24 1998
|
| 59 | DM1, DMPK
|
| Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.
|
| Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE.
|
| Proc Natl Acad Sci U S A 94(14):7388-93. 1997
|
| 60 | DM1, DMPK
|
| Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes.
|
| Hamshere MG, Newman EE, Alwazzan M, Athwal BS, Brook JD.
|
| Proc Natl Acad Sci U S A 94(14):7394-9. 1997
|
| 61 | DMPK
|
| Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells.
|
| Benders AA, Groenen PJ, Oerlemans FT, Veerkamp JH, Wieringa B.
|
| J Clin Invest 100(6):1440-7. 1997
|
| 62 | DM1, DMPK
|
| Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation.
|
| Yamagata H, Miki T, Nakagawa M, Johnson K, Deka R, Ogihara T.
|
| Hum Genet 97 : 145-147. 1996
|
| 63 | DM1, DMPK
|
| Overexpression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype.
|
| Bush EW, Taft CS, Meixell GE, Perryman MB.
|
| J Biol Chem 271 : 548-552. 1996
|
| 64 | DM1, DMPK
|
| Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.
|
| Ashizawa T, Monckton DG, Vaishnav S, Patel BJ, Voskova A, Caskey CT.
|
| Genomics 36 : 47-53. 1996
|
| 65 | DM1, SIX5, DMPK
|
| A novel homeo domain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.
|
| Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, Meghji P, Bailey ME, Chartier FL, et al.
|
| Hum Mol Genet 4(10):1919-25. 1995
|
| 66 | DM1, DMPK
|
| De novo myotonic dystrophy mutation in a Nigerian kindred.
|
| Krahe R, Eckhart M, Ogunniyi AO, Osuntokun BO, Siciliano MJ, Ashizawa T.
|
| Am J Hum Genet 56 : 1067-1074. 1995
|
| 67 | DM1, DMPK
|
| Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue.
|
| Whiting EJ, Waring JD, Tamai K, Somerville MJ, Hincke M, Staines WA, Ikeda JE, Korneluk RG.
|
| Hum Mol Genet 4 : 1063-1072. 1995
|
| 68 | DM1, DMPK
|
| Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro : evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability.
|
| Wohrle D, Kennerknecht I, Wolf M, Enders H, Schwemmle S, Steinbach P.
|
| Hum Mol Genet 4 : 1147-1153. 1995
|
| 69 | DM1, DMPK
|
| Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.
|
| Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage VL, Siciliano MJ.
|
| Genomics 28 : 1-14. 1995
|
| 70 | DM1, DMPK
|
| Full-length myotonin protein kinase (72 kDa) displays serine kinase activity.
|
| Timchenko L, Nastainczyk W, Schneider T, Patel B, Hofmann F, Caskey CT.
|
| Proc Natl Acad Sci U S A 92 : 5366-5370. 1995
|
| 71 | DM1, DMPK
|
| Detection of a premutation in Japanese myotonic dystrophy.
|
| Yamagata H, Miki T, Sakoda S, Yamanaka N, Davies J, Shelbourne P, Kubota R, Takenaga S, Nakagawa M, Ogihara T, et al.
|
| Hum Mol Genet 3 : 819-820. 1994
|
| 72 | DM1, DMPK
|
| Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene.
|
| Mahadevan MS, Amemiya C, Jansen G, Sabourin L, Baird S, Neville CE, Wormskamp N, Segers B, Batzer M, Lamerdin J, et al.
|
| Hum Mol Genet 2 : 299-304. 1993
|
| 73 | DM1, DMPK
|
| Myotonic dystrophy kinase is a component of neuromuscular junctions.
|
| van der Ven PF, Jansen G, van Kuppevelt TH, Perryman MB, Lupa M, Dunne PW, ter Laak HJ, Jap PH, Veerkamp JH, Epstein HF, et al.
|
| Hum Mol Genet 2 : 1889-1894. 1993
|
| 74 | DM1, DMPK
|
| The DM mutation : diagnostic applications in the Finnish population.
|
| Nokelainen P, Shelbourne P, Shaw D, Brook JD, Harley HG, Johnson K, Somer H, Savontaus ML, Peltonen L.
|
| Clin Genet 43 : 190-195. 1993
|
| 75 | DM1, DMPK
|
| Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy.
|
| Carango P, Noble JE, Marks HG, Funanage VL.
|
| Genomics 18 : 340-348. 1993
|
| 76 | DM1, DMPK
|
| Molecular basis of myotonic dystrophy : expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.
|
| Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, et al.
|
| Cell 68 : 799-808. 1992
|
| 77 | DMPK
|
| Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.
|
| Shelbourne P, Winqvist R, Kunert E, Davies J, Leisti J, Thiele H, Bachmann H, Buxton J, Williamson B, Johnson K.
|
| Hum Mol Genet 1 : 467-473. 1992
|
| 78 | DMPK
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| Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs.
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| Nat Genet 1(4):261-6.PMID: 1302022 1992
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| 79 | DMPK
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| Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q.
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| Friedrich U, Brunner H, Smeets D, Lambermon E, Ropers HH.
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| Hum Genet 75 : 291-293. 1987
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| 80 | DM1, DMPK
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| 1.
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| CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
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