Cargando…

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells

CTG expansions in DMPK gene, causing myotonic dystrophy type 1 (DM1), are characterized by pronounced somatic instability. A large proportion of variability of somatic instability is explained by expansion size and patient’s age at sampling, while individual-specific differences are attributed to ad...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pešović, Jovan, Perić, Stojan, Brkušanin, Miloš, Brajušković, Goran, Rakočević-Stojanović, Vidosava, Savić-Pavićević, Dušanka
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278776/ https://www.ncbi.nlm.nih.gov/pubmed/30546383 http://dx.doi.org/10.3389/fgene.2018.00601

Ejemplares similares

Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1
por: Peric, Stojan, et al.
Publicado: (2021)

Fatigue in myotonic dystrophy type 1: a seven-year prospective study
por: PERIC, STOJAN, et al.
Publicado: (2019)

Metabolic impairments in patients with myotonic dystrophy type 2
por: VUJNIC, MILORAD, et al.
Publicado: (2018)

Personality traits in patients with myotonic dystrophy type 2
por: Paunic, Teodora, et al.
Publicado: (2017)

Clinical score for early diagnosis of myotonic dystrophy type 2
por: Ivanovic, Vukan, et al.
Publicado: (2022)

Autoimmune Diseases in Patients With Myotonic Dystrophy Type 2
por: Peric, Stojan, et al.
Publicado: (2022)

Multidimensional aspects of pain in myotonic dystrophies
por: Peric, Marina, et al.
Publicado: (2015)

Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1
por: Savić Pavićević, Dušanka, et al.
Publicado: (2013)

Hypogonadism and erectile dysfunction in myotonic dystrophy type 1
por: PERIC, STOJAN, et al.
Publicado: (2013)

The Coexistence of Myasthenia Gravis and Myotonic Dystrophy Type 2 in a Single Patient
por: Nikolic, Ana, et al.
Publicado: (2013)

Myotonic dystrophy type 1 in the COVID-19 era
por: Ilic Zivojinovic, Jelena, et al.
Publicado: (2023)

Cognitive Impairment in Myotonic Dystrophy Type 1 Is Associated with White Matter Damage
por: Caso, Francesca, et al.
Publicado: (2014)

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1
por: Rasmussen, Astrid, et al.
Publicado: (2022)

Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood
por: Buckley, Lauren, et al.
Publicado: (2016)

LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients
por: Kosac, Ana, et al.
Publicado: (2022)

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients
por: Yanovsky-Dagan, Shira, et al.
Publicado: (2021)

Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1
por: Miller, Jacob N., et al.
Publicado: (2020)

Muscular myopathies other than myotonic dystrophy also associated with (CTG)(n) expansion at the DMPK locus
por: Mohan, Vasavi, et al.
Publicado: (2012)

Role of Myotonic Dystrophy Protein Kinase (DMPK) in Glucose Homeostasis and Muscle Insulin Action
por: Llagostera, Esther, et al.
Publicado: (2007)

Analysis of association of potentially functional genetic variants within genes encoding miR-34b/c, miR-378 and miR-143/145 with prostate cancer in Serbian population
por: Kotarac, Nevena, et al.
Publicado: (2019)

Non-Alcoholic Steatohepatitis in Myotonic Dystrophy: DMPK Gene Mutation, Insulin Resistance and Development of Steatohepatitis
por: Bhardwaj, Rishi R., et al.
Publicado: (2010)

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice
por: Jauvin, Dominic, et al.
Publicado: (2017)

Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells
por: Porquet, Florent, et al.
Publicado: (2023)

Muscleblind1, but Not Dmpk or Six5, Contributes to a Complex Phenotype of Muscular and Motivational Deficits in Mouse Models of Myotonic Dystrophy
por: Matynia, Anna, et al.
Publicado: (2010)

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
por: Ambrose, Kathlin K, et al.
Publicado: (2017)

Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1
por: Hildonen, Mathis, et al.
Publicado: (2020)

AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1
por: Stepniak-Konieczna, Ewa, et al.
Publicado: (2020)

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1
por: Mangin, Antoine, et al.
Publicado: (2021)

Phenotypic and genetic spectrum of patients with limb-girdle muscular dystrophy type 2A from Serbia
por: PERIC, STOJAN, et al.
Publicado: (2019)

Myotonic dystrophy protein kinase (DMPK) prevents ROS-induced cell death by assembling a hexokinase II-Src complex on the mitochondrial surface
por: Pantic, B, et al.
Publicado: (2013)

In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array
por: Visconti, Virginia Veronica, et al.
Publicado: (2023)

MiR-375 and miR-21 as Potential Biomarkers of Prostate Cancer: Comparison of Matching Samples of Plasma and Exosomes
por: Joković, Suzana Matijašević, et al.
Publicado: (2022)

Analysis of mutational dynamics at the DMPK (CTG)(n) locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1
por: Corrales, Eyleen, et al.
Publicado: (2019)

Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing
por: Franck, Silvie, et al.
Publicado: (2022)

Myotonic dystrophy
por: Patterson, VH
Publicado: (1990)

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
por: Wood, Libby, et al.
Publicado: (2018)

Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1
por: Wenninger, Stephan, et al.
Publicado: (2021)

Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease
por: Wood, Libby, et al.
Publicado: (2019)

Intellectual Ability in the Duchenne Muscular Dystrophy and Dystrophin Gene Mutation Location
por: Milic Rasic, V, et al.
Publicado: (2015)

Cancer and Myotonic Dystrophy
por: D’Ambrosio, Eleonora S., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_q9j6pqpmotrsmv7kd0l24hfpki