| Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report. | Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.
Pezzoli F, Parigi S, Moroni M, Sacchini M, Mancano G, Zulli A, Morini F, Sandini E, Berti E, Gabbrielli G, Serafini L, Agostini E, Azzarà A, Padrini L, Cioni ML, Ingargiola A, Petrucci L, Paternoster F, Catarzi S. | 03/10/2023 |
| DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients. | DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients.
Yanovsky-Dagan S, Cohen E, Megalli P, Altarescu G, Schonberger O, Eldar-Geva T, Epsztejn-Litman S, Eiges R., Free PMC Article | 08/13/2022 |
| High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1. | High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1.
Rasmussen A, Hildonen M, Vissing J, Duno M, Tümer Z, Birkedal U., Free PMC Article | 07/2/2022 |
| DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus. | DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus.
Potier B, Lallemant L, Parrot S, Huguet-Lachon A, Gourdon G, Dutar P, Gomes-Pereira M., Free PMC Article | 03/5/2022 |
| Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy. | Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy.
Rao AN, Campbell HM, Guan X, Word TA, Wehrens XH, Xia Z, Cooper TA., Free PMC Article | 01/15/2022 |
| DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1. | DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1.
Breton É, Légaré C, Overend G, Guay SP, Monckton D, Mathieu J, Gagnon C, Richer L, Gallais B, Bouchard L. | 10/23/2021 |
| A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype. | A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Ballester-Lopez A, Koehorst E, Almendrote M, Martínez-Piñeiro A, Lucente G, Linares-Pardo I, Núñez-Manchón J, Guanyabens N, Cano A, Lucia A, Overend G, Cumming SA, Monckton DG, Casadevall T, Isern I, Sánchez-Ojanguren J, Planas A, Rodríguez-Palmero A, Monlleó-Neila L, Pintos-Morell G, Ramos-Fransi A, Coll-Cantí J, Nogales-Gadea G. | 07/24/2021 |
| Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test. | Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test.
Leferink M, Wong DPW, Cai S, Yeo M, Ho J, Lian M, Kamsteeg EJ, Chong SS, Haer-Wigman L, Guan M., Free PMC Article | 10/31/2020 |
| DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies. | DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies.
Tomé S, Gourdon G., Free PMC Article | 10/10/2020 |
| Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes. | Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.
Overend G, Légaré C, Mathieu J, Bouchard L, Gagnon C, Monckton DG., Free PMC Article | 04/4/2020 |
| These results suggest the existence of p53-p73-DMPK axis which mediates DNA-damage induced actomyosin contraction at the cortex and concomitant cell death. | DMPK is a New Candidate Mediator of Tumor Suppressor p53-Dependent Cell Death.
Itoh K, Ebata T, Hirata H, Torii T, Sugimoto W, Onodera K, Nakajima W, Uehara I, Okuzaki D, Yamauchi S, Budirahardja Y, Nishikata T, Tanaka N, Kawauchi K., Free PMC Article | 02/1/2020 |
| The abnormal expansion of CTG repeats in the 3'-UTR of the DMPK gene elicits Myotonic Dystrophy 1, whereas elongated CCTG repeats in intron 1 of ZNF9 triggers Myotonic Dystrophy 2. | Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.
Wojciechowska M, Sobczak K, Kozlowski P, Sedehizadeh S, Wojtkowiak-Szlachcic A, Czubak K, Markus R, Lusakowska A, Kaminska A, Brook JD., Free PMC Article | 10/5/2019 |
| paired gRNA-CRISPR/Cas9 caused frequent inversion of expanded CTG repeats at the Dystrophia Myotonica protein kinase(DMPK) locus, and this approachwas not suitable for in vivo therapeutic genome editing. | Therapeutic Genome Editing for Myotonic Dystrophy Type 1 Using CRISPR/Cas9.
Wang Y, Hao L, Wang H, Santostefano K, Thapa A, Cleary J, Li H, Guo X, Terada N, Ashizawa T, Xia G., Free PMC Article | 09/7/2019 |
| Expanded CUG repeats in DMPK transcripts adopt diverse hairpin conformations without influencing the structure of the flanking sequences. | Expanded CUG repeats in DMPK transcripts adopt diverse hairpin conformations without influencing the structure of the flanking sequences.
van Cruchten RTP, Wieringa B, Wansink DG., Free PMC Article | 06/8/2019 |
| We have developed an inducible, skeletal muscle-specific mouse model of DM1 (CUG960) that expresses 960 CUG repeat-expressing animals (CUG960) in the context of human DMPK exons 11-15. | Mechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1.
Morriss GR, Rajapakshe K, Huang S, Coarfa C, Cooper TA., Free PMC Article | 03/9/2019 |
| The motor function (MRCSS and 6MWT) and CTG repeat length of DMPK significantly correlated with LV diastolic dysfunction in patients with myotonic dystrophy type 1. | Diastolic heart dysfunction is correlated with CTG repeat length in myotonic dystrophy type 1.
Park JS, Kim N, Park D. | 11/17/2018 |
| Variant repeats might explain a part of the phenotypic variability in a small percent of myotonic dystrophy type 1 patients and likely display a stabilizing effect on the meiotic instability of DMPK expanded alleles | Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.
Pešović J, Perić S, Brkušanin M, Brajušković G, Rakočević-Stojanović V, Savić-Pavićević D. | 08/4/2018 |
| Haplotype analysis using various polymorphic-markers in proximity to DMPK gene indicates that a single founder mutation originates myotonic dystrophy type 1 in Mexico; however, Y-STR haplogroups data and the presence of pre-mutated and large normal alleles in Amerindians support the hypothesis that both European and Amerindian ancestral chromosomes might have introduced the disease to the Mexican population. | Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution.
Murillo-Melo NM, Márquez-Quiróz LC, Gómez R, Orozco L, Mendoza-Caamal E, Tapia-Guerrero YS, Camacho-Mejorado R, Cortés H, López-Reyes A, Santana C, Noris G, Hernández-Hernández O, Cisneros B, Magaña JJ. | 07/21/2018 |
| Patients with myotonic dystrophy type 1 (DM1) may have a slight decrease in renal function that cannot be explained by a higher occurrence of risk factors for renal failure such as diabetes, hypertension or age. In addition, there was no correlation between CTG repeats, a marker of disease severity, and renal function. | Reduced renal function in patients with Myotonic Dystrophy type 1 and the association to CTG expansion and other potential risk factors for chronic kidney disease.
Aldenbratt A, Lindberg C, Svensson MK. | 06/16/2018 |
| Interruptions within the DMPK expanded alleles could also interfere with the chromatin structure, the transcriptional activity of the Myotonic dystrophy type 1 (DM1) locus and the interaction with RNA CUG-binding proteins | Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.
Santoro M, Masciullo M, Silvestri G, Novelli G, Botta A. | 05/19/2018 |
| A second point is that DM mutations, although located in noncoding regions, may reduce the expression of mutant alleles, raising questions whether loss-of-function may contribute to the phenotype, or possibly impose a safety limit on knockdown therapies that create or aggravate a DMPK or CNBP deficiency state | Myotonic dystrophy: approach to therapy.
Thornton CA, Wang E, Carrell EM., Free PMC Article | 01/13/2018 |
| (CTG)>18 frequency of 3.60%, 1.57% and 4.00% in the Malay, Chinese and Indian subpopulations of Malaysia were discovered. | 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.
Ambrose KK, Ishak T, Lian LH, Goh KJ, Wong KT, Ahmad-Annuar A, Thong MK., Free PMC Article | 12/23/2017 |
| The patients with DM1 nucleotide expansion (CTG) mutation showed widespread abnormalities of all DTI parameters in the white matter, which were associated with reduced gray matter volume in all brain lobes and thinning in parieto-temporo-occipital cortices. | Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1.
Zanigni S, Evangelisti S, Giannoccaro MP, Oppi F, Poda R, Giorgio A, Testa C, Manners DN, Avoni P, Gramegna LL, De Stefano N, Lodi R, Tonon C, Liguori R., Free PMC Article | 11/4/2017 |
| Our work suggests that DM1 patients are at risk for Fuchs' endothelial corneal dystrophy (FECD). DMPK mutations contribute to the genetic burden of FECD but are uncommon. We establish a connection between two repeat expansion disorders converging upon RNA-MBNL1 foci and FECD. | Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.
Mootha VV, Hansen B, Rong Z, Mammen PP, Zhou Z, Xing C, Gong X., Free PMC Article | 09/23/2017 |
| findings thus suggest that nuclear retention may be a common feature of regulation of DMPK RNA expression. The typical forced nuclear residence of expanded DMPK transcripts affects this regulation in tissues of DM1 patients, but not through hyperadenylation. | Trinucleotide-repeat expanded and normal DMPK transcripts contain unusually long poly(A) tails despite differential nuclear residence.
Gudde AEEG, van Kessel IDG, André LM, Wieringa B, Wansink DG. | 08/19/2017 |