Cargando…

Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype

Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease which results from an expansion of repetitive DNA elements within the 3' untranslated region of the DMPK gene. Some patients develop multiple pilomatricomas as well as malignant tumors in other tissues. Mutations of the caten...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rübben, Albert, Wahl, Renate Ursula, Eggermann, Thomas, Dahl, Edgar, Ortiz-Brüchle, Nadina, Cacchi, Claudio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7064234/ https://www.ncbi.nlm.nih.gov/pubmed/32155193 http://dx.doi.org/10.1371/journal.pone.0230003

Ejemplares similares

Cutaneous Basal Cell Carcinoma with Lymph Node and Pulmonary Metastases
por: Wahl, Renate U., et al.
Publicado: (2018)

Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)
por: Alegre-Cortés, Eva, et al.
Publicado: (2022)

Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1)
por: Winblad, Stefan, et al.
Publicado: (2006)

Targeting Toxic RNAs that Cause Myotonic Dystrophy Type 1 (DM1) with a Bisamidinium Inhibitor
por: Wong, Chun-Ho, et al.
Publicado: (2014)

Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1)
por: Nieuwenhuis, Sylvia, et al.
Publicado: (2022)

Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1
por: Han, Ji Yoon, et al.
Publicado: (2022)

Fluid Biomarkers of Central Nervous System (CNS) Involvement in Myotonic Dystrophy Type 1 (DM1)
por: Rossi, Salvatore, et al.
Publicado: (2023)

Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice
por: Oana, Kosuke, et al.
Publicado: (2013)

Oxidant–antioxidant imbalance in the serum of Myotonic Dystrophy type 1 (DM1) patients correlates with the progression of disease
por: Kumar, Ashok, et al.
Publicado: (2014)

Development of an AP-FRET Based Analysis for Characterizing RNA-Protein Interactions in Myotonic Dystrophy (DM1)
por: Rehman, Shagufta, et al.
Publicado: (2014)

Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries
por: Higgs, Cecilia, et al.
Publicado: (2019)

Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1)
por: Jean, Stéphane, et al.
Publicado: (2014)

Vorinostat Improves Myotonic Dystrophy Type 1 Splicing Abnormalities in DM1 Muscle Cell Lines and Skeletal Muscle from a DM1 Mouse Model
por: Neault, Nafisa, et al.
Publicado: (2023)

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

Pseudobullous pilomatricoma: A rare variant of pilomatricoma
por: Lee, Tung‐Chun, et al.
Publicado: (2022)

Respiratory failure in myotonic dystrophy 1
Publicado: (2013)

Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single center
por: Mazzoli, Marco, et al.
Publicado: (2020)

Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
por: Garibaldi, Matteo, et al.
Publicado: (2021)

Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India()
por: Kumar, Ashok, et al.
Publicado: (2014)

Age of Onset of RNA Toxicity Influences Phenotypic Severity: Evidence from an Inducible Mouse Model of Myotonic Dystrophy (DM1)
por: Gladman, Jordan T., et al.
Publicado: (2013)

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

Disease burden of myotonic dystrophy type 1
por: Landfeldt, Erik, et al.
Publicado: (2019)

Cardiac Pathology in Myotonic Dystrophy Type 1
por: Mahadevan, Mani S., et al.
Publicado: (2021)

Targeting Myotonic Dystrophy Type 1 with Metformin
por: García-Puga, Mikel, et al.
Publicado: (2022)

Elevated serum Neurofilament Light chain (NfL) as a potential biomarker of neurological involvement in Myotonic Dystrophy type 1 (DM1)
por: Nicoletti, Tommaso F., et al.
Publicado: (2022)

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1
por: Winkler, Nelson S., et al.
Publicado: (2018)

Overexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2
por: Cardani, Rosanna, et al.
Publicado: (2013)

Pilomatricomas secondary to treatment with vismodegib
por: Magdaleno-Tapial, Jorge, et al.
Publicado: (2018)

Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules
por: Larsen, Jan, et al.
Publicado: (2011)

Balance impairment in myotonic dystrophy type 1: Dynamic posturography suggests the coexistence of a proprioceptive and vestibular deficit
por: Scarano, Stefano, et al.
Publicado: (2022)

Myotonic Dystrophy Type 1 Presenting as Male Infertility
por: Kim, Woong Bin, et al.
Publicado: (2012)

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

Prevalence and correlates of apathy in myotonic dystrophy type 1
por: Gallais, Benjamin, et al.
Publicado: (2015)

Imaging in Myotonic Dystrophy Type 1 – Case Reports
por: Bielen, Jurgen, et al.
Publicado: (2016)

Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1
por: Voellenkle, Christine, et al.
Publicado: (2019)

Responsiveness of outcome measures in myotonic dystrophy type 1
por: Knak, Kirsten L., et al.
Publicado: (2020)

Basilar Artery Dissection in Myotonic Dystrophy Type 1
por: Lee, Chan-Hyuk, et al.
Publicado: (2022)

Benefits of aerobic exercise in myotonic dystrophy type 1
por: Mackenzie, Samuel J., et al.
Publicado: (2022)

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

TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2
por: Bosè, Francesca, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_m1blsdqd02dt3j05phpnavg70c