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Select item 93491761.

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients

Shira Yanovsky-Dagan, Eliora Cohen, Pauline Megalli, Gheona Altarescu, Oshrat Schonberger, Talia Eldar-Geva, Silvina Epsztejn-Litman, Rachel Eiges

Eur J Hum Genet. 2022 Aug; 30(8): 980–983. Published online 2021 Nov 15. doi: 10.1038/s41431-021-00999-3

PMCID:: PMC9349176

Abstract Article PDF–604K

Select item 92225882.

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1

Astrid Rasmussen, Mathis Hildonen, John Vissing, Morten Duno, Zeynep Tümer, Ulf Birkedal

Genes (Basel) 2022 Jun; 13(6): 970. Published online 2022 May 28. doi: 10.3390/genes13060970

PMCID:: PMC9222588

Abstract Article PDF–2.0M

Select item 70140873.

DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies

Stéphanie Tomé, Geneviève Gourdon

Int J Mol Sci. 2020 Jan; 21(2): 457. Published online 2020 Jan 10. doi: 10.3390/ijms21020457

PMCID:: PMC7014087

Abstract Article PDF–489K

Select item 69319284.

Heart Rate Variability Declines with Increasing Age and CTG Repeat Length in Patients with Myotonic Dystrophy Type 1

Bradley A. Hardin, Miriam R. Lowe, Deepak Bhakta, William J. Groh

Ann Noninvasive Electrocardiol. 2003 Jul; 8(3): 227–232. Published online 2003 Jul 8. doi: 10.1046/j.1542-474X.2003.08310.x

PMCID:: PMC6931928

Abstract Article PDF–114K

Select item 65861405.

Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes

Gayle Overend, Cécilia Légaré, Jean Mathieu, Luigi Bouchard, Cynthia Gagnon, Darren G Monckton

Hum Mol Genet. 2019 Jul 1; 28(13): 2245–2254. Published online 2019 Mar 18. doi: 10.1093/hmg/ddz055

PMCID:: PMC6586140

Abstract Article PDF–499K

Select item 65477476.

Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test

Maike Leferink, Daphne P. W. Wong, Shiwei Cai, Minli Yeo, Jocelin Ho, Mulias Lian, Erik-Jan Kamsteeg, Samuel S. Chong, Lonneke Haer-Wigman, Ming Guan

Sci Rep. 2019; 9: 8280. Published online 2019 Jun 4. doi: 10.1038/s41598-019-44588-3

PMCID:: PMC6547747

Abstract Article PDF–1.6M

Select item 64262907.

Expanded CUG repeats in DMPK transcripts adopt diverse hairpin conformations without influencing the structure of the flanking sequences

Remco T.P. van Cruchten, Bé Wieringa, Derick G. Wansink

RNA. 2019 Apr; 25(4): 481–495. doi: 10.1261/rna.068940.118

PMCID:: PMC6426290

Abstract Article PDF–980K

Select item 62250328.

Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9

Yanlin Wang, Lei Hao, Hongcai Wang, Katherine Santostefano, Arjun Thapa, John Cleary, Hui Li, Xiuming Guo, Naohiro Terada, Tetsuo Ashizawa, Guangbin Xia

Mol Ther. 2018 Nov 7; 26(11): 2617–2630. Published online 2018 Sep 11. doi: 10.1016/j.ymthe.2018.09.003

PMCID:: PMC6225032

Abstract Article PDF–3.2M

Select item 53879469.

Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia

Kathlin K Ambrose, Taufik Ishak, Lay-Hoong Lian, Khean-Jin Goh, Kum-Thong Wong, Azlina Ahmad-Annuar, Meow-Keong Thong

BMJ Open. 2017; 7(3): e010711. Published online 2017 Mar 31. doi: 10.1136/bmjopen-2015-010711

PMCID:: PMC5387946

Abstract Article PDF–1.1M

Select item 533934210.

CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

Lise Barbé, Stella Lanni, Arturo López-Castel, Silvie Franck, Claudia Spits, Kathelijn Keymolen, Sara Seneca, Stephanie Tomé, Ioana Miron, Julie Letourneau, Minggao Liang, Sanaa Choufani, Rosanna Weksberg, Michael D. Wilson, Zdenek Sedlacek, Cynthia Gagnon, Zuzana Musova, David Chitayat, Patrick Shannon, Jean Mathieu, Karen Sermon, Christopher E. Pearson

Am J Hum Genet. 2017 Mar 2; 100(3): 488–505. Published online 2017 Mar 2. doi: 10.1016/j.ajhg.2017.01.033

PMCID:: PMC5339342

Abstract Article PDF–1.6M

Select item 525594811.

Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

Annalisa Botta, Giulia Rossi, Marzia Marcaurelio, Luana Fontana, Maria Rosaria D'Apice, Francesco Brancati, Roberto Massa, Darren G Monckton, Federica Sangiuolo, Giuseppe Novelli

Eur J Hum Genet. 2017 Feb; 25(2): 257–261. Published online 2016 Nov 23. doi: 10.1038/ejhg.2016.148

PMCID:: PMC5255948

Abstract Article PDF–615K

Select item 490051212.

Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1

Stefano Zanigni, Stefania Evangelisti, Maria Pia Giannoccaro, Federico Oppi, Roberto Poda, Antonio Giorgio, Claudia Testa, David Neil Manners, Patrizia Avoni, Laura Ludovica Gramegna, Nicola De Stefano, Raffaele Lodi, Caterina Tonon, Rocco Liguori

Neuroimage Clin. 2016; 11: 678–685. Published online 2016 May 3. doi: 10.1016/j.nicl.2016.04.012

PMCID:: PMC4900512

Abstract Article PDF–1.8M

Select item 486387713.

Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood

Lauren Buckley, Michelle Lacey, Melanie Ehrlich

Epigenomics. 2016 Jan; 8(1): 13–31. Published online 2016 Jan 12. doi: 10.2217/epi.15.104

PMCID:: PMC4863877

Abstract Article PDF–1.8M

Select item 452066914.

How genetics affects the brain to produce higher-level dysfunctions in myotonic dystrophy type 1

Laura Serra, Antonio Petrucci, Barbara Spanò, Mario Torso, Giusy Olivito, Ludovico Lispi, Sandro Costanzi-Porrini, Giovanni Giulietti, Giacomo Koch, Manlio Giacanelli, Carlo Caltagirone, Mara Cercignani, Marco Bozzali

Funct Neurol. 2015 Jan-Mar; 30(1): 21–31. Published online 2015 Jul 27.

PMCID:: PMC4520669

Abstract Article PDF–1.3M

Select item 444157115.

Genome Modification Leads to Phenotype Reversal in Human Myotonic Dystrophy type 1 iPS-cell Derived Neural Stem Cells

Guangbin Xia, Yuanzheng Gao, Shouguang Jin, SH. Subramony, Naohiro Terada, Laura P.W. Ranum, Maurice S. Swanson, Tetsuo Ashizawa

Stem Cells. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: Stem Cells. 2015 Jun; 33(6): 1829–1838. doi: 10.1002/stem.1970

PMCID:: PMC4441571

Abstract Article PDF–1.4M

Select item 406677916.

DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1

Olof J. Pettersson, Lars Aagaard, Diana Andrejeva, Rune Thomsen, Thomas G. Jensen, Christian K. Damgaard

Nucleic Acids Res. 2014 Jul 1; 42(11): 7186–7200. Published online 2014 May 3. doi: 10.1093/nar/gku352

PMCID:: PMC4066779

Abstract Article PDF–1.5M

Select item 369969917.

Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing

Lisa Kalman, Jack Tarleton, Monica Hitch, Madhuri Hegde, Nick Hjelm, Elizabeth Berry-Kravis, Lili Zhou, James E. Hilbert, Elizabeth A. Luebbe, Richard T. Moxley, III, Lorraine Toji

J Mol Diagn. 2013 Jul; 15(4): 518–525. doi: 10.1016/j.jmoldx.2013.03.008

PMCID:: PMC3699699

Abstract Article PDF–345K

Select item 351002818.

Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus

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 Gourdon

PLoS Genet. 2012 Nov; 8(11): e1003043. Published online 2012 Nov 29. doi: 10.1371/journal.pgen.1003043

PMCID:: PMC3510028

Abstract Article PDF–4.4M

Select item 303199819.

NMR Spectroscopy and Molecular Dynamics Simulation of r(CCGCUGCGG)₂ Reveal a Dynamic UU Internal Loop Found in Myotonic Dystrophy Type 1

Raman Parkesh, Matthew Fountain, Matthew D. Disney

Biochemistry. Author manuscript; available in PMC 2012 Feb 8.

Published in final edited form as: Biochemistry. 2011 Feb 8; 50(5): 599–601. Published online 2011 Jan 13. doi: 10.1021/bi101896j

PMCID:: PMC3031998

Abstract Article PDF–1.0M

Select item 276259020.

Structure of dystrophia myotonica protein kinase

Jonathan M Elkins, Ann Amos, Frank H Niesen, Ashley CW Pike, Oleg Fedorov, Stefan Knapp

Protein Sci. 2009 Apr; 18(4): 782–791. Published online 2009 Feb 10. doi: 10.1002/pro.82

PMCID:: PMC2762590

Abstract Article PDF–477K

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