相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing
Silvie Franck et al.
BIOLOGY OPEN (2022)
Comprehensive transcriptome-wide analysis of spliceopathy correction of myotonic dystrophy using CRISPR-Cas9 in iPSCs-derived cardiomyocytes
Sumitava Dastidar et al.
MOLECULAR THERAPY (2022)
Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program
Nicholas E. Johnson et al.
NEUROLOGY (2021)
Epigenetics of Myotonic Dystrophies: A Minireview
Virginia Veronica Visconti et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
CELF Family Proteins in Cancer: Highlights on the RNA-Binding Protein/Noncoding RNA Regulatory Axis
Maryam Nasiri-Aghdam et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Transcriptome alterations in myotonic dystrophy frontal cortex
Brittney A. Otero et al.
CELL REPORTS (2021)
Reversible cardiac disease features in an inducible CUG repeat RNA-expressing mouse model of myotonic dystrophy
Ashish N. Rao et al.
JCI INSIGHT (2021)
Transcriptome Analysis Reveals Altered Inflammatory Pathway in an Inducible Glial Cell Model of Myotonic Dystrophy Type 1
Cuauhtli N. Azotla-Vilchis et al.
BIOMOLECULES (2021)
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics
Marc Jan Bonder et al.
NATURE GENETICS (2021)
Targeted splice sequencing reveals RNA toxicity and therapeutic response in myotonic dystrophy
Matthew K. Tanner et al.
NUCLEIC ACIDS RESEARCH (2021)
Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin
Tiago Mateus et al.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2021)
Myotonic dystrophy type 1 drug development: A pipeline toward the market
Marta Pascual-Gilabert et al.
DRUG DISCOVERY TODAY (2021)
Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy
Estefania Cerro-Herreros et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2021)
Integrative Cell Type-Specific Multi-Omics Approaches Reveal Impaired Programs of Glial Cell Differentiation in Mouse Culture Models of DM1
Anchel Gonzalez-Barriga et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2021)
Highly accurate protein structure prediction with AlphaFold
John Jumper et al.
NATURE (2021)
miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1
Demetris Koutalianos et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2021)
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics
Sanjog R. Chintalaphani et al.
ACTA NEUROPATHOLOGICA COMMUNICATIONS (2021)
Integrative Multi-Omics Approaches in Cancer Research: From Biological Networks to Clinical Subtypes
Yong Jin Heo et al.
MOLECULES AND CELLS (2021)
Long-read sequencing for rare human genetic diseases
Satomi Mitsuhashi et al.
JOURNAL OF HUMAN GENETICS (2020)
Aberrant Expression of a Non-muscle RBFOX2 Isoform Triggers Cardiac Conduction Defects in Myotonic Dystrophy
Chaitali Misra et al.
DEVELOPMENTAL CELL (2020)
miR-7 Restores Phenotypes in Myotonic Dystrophy Muscle Cells by Repressing Hyperactivated Autophagy
Maria Sabater-Arcis et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2020)
Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood
Lukasz J. Sznajder et al.
NATURE COMMUNICATIONS (2020)
An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I
Andrea Lopez-Martinez et al.
GENES (2020)
From Multi-Omics Approaches to Precision Medicine in Amyotrophic Lateral Sclerosis
Giovanna Morello et al.
FRONTIERS IN NEUROSCIENCE (2020)
Omics-based Biomarkers for the Early Alzheimer Disease Diagnosis and Reliable Therapeutic Targets Development
Carmen Pena-Bautista et al.
CURRENT NEUROPHARMACOLOGY (2019)
MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1
Michael Flower et al.
BRAIN (2019)
Global Increase in Circular RNA Levels in Myotonic Dystrophy
Karol Czubak et al.
FRONTIERS IN GENETICS (2019)
MicroRNA-Based Therapeutic Perspectives in Myotonic Dystrophy
Arturo Lopez Castel et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Recovery in the Myogenic Program of Congenital Myotonic Dystrophy Myoblasts after Excision of the Expanded (CTG)n Repeat
Laurene M. Andre et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Increased Muscleblind levels by chloroquine treatment improve myotonic dystrophy type 1 phenotypes in in vitro and in vivo models
Ariadna Bargiela et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)
Transcriptome alterations in myotonic dystrophy skeletal muscle and heart
Eric T. Wang et al.
HUMAN MOLECULAR GENETICS (2019)
Combination Treatment of Erythromycin and Furamidine Provides Additive and Synergistic Rescue of Mis-splicing in Myotonic Dystrophy Type 1 Models
Jana R. Jenquin et al.
ACS PHARMACOLOGY & TRANSLATIONAL SCIENCE (2019)
Long-read genome sequencing identifies causal structural variation in a Mendelian disease
Jason D. Merker et al.
GENETICS IN MEDICINE (2018)
Chloroquine inhibits autophagic flux by decreasing autophagosome-lysosome fusion
Mario Mauthe et al.
AUTOPHAGY (2018)
Correction of GSK3β at young age prevents muscle pathology in mice with myotonic dystrophy type 1
Christina Wei et al.
FASEB JOURNAL (2018)
A Single-Cell Transcriptomic Atlas of Thymus Organogenesis Resolves Cell Types and Developmental Maturation
Eric M. Kernfeld et al.
IMMUNITY (2018)
Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy
Pietro Spitali et al.
JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2018)
Elevated Global DNA Methylation Is Not Exclusive to Amyotrophic Lateral Sclerosis and Is Also Observed in Spinocerebellar Ataxia Types 1 and 2
Hamid Hamzeiy et al.
NEURODEGENERATIVE DISEASES (2018)
Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells
Sumitava Dastidar et al.
NUCLEIC ACIDS RESEARCH (2018)
High-throughput analysis of the RNA-induced silencing complex in myotonic dystrophy type 1 patients identifies the dysregulation of miR-29c and its target ASB2
Marisa Cappella et al.
CELL DEATH & DISEASE (2018)
miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models
Estefania Cerro-Herreros et al.
NATURE COMMUNICATIONS (2018)
RNA-mediated therapies in myotonic dystrophy
Sarah J. Overby et al.
DRUG DISCOVERY TODAY (2018)
Myotonic Dystrophy and Developmental Regulation of RNA Processing
James D. Thomas et al.
COMPREHENSIVE PHYSIOLOGY (2018)
Proteomics: Technologies and Their Applications
Bilal Aslam et al.
JOURNAL OF CHROMATOGRAPHIC SCIENCE (2017)
Myotonic Dystrophies: Stateofthe Art of New Therapeutic Developments for the CNS
Genevieve Gourdon et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2017)
Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy
Geraldine Sicot et al.
CELL REPORTS (2017)
Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice
Dominic Jauvin et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2017)
Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds
Ludovic Arandel et al.
DISEASE MODELS & MECHANISMS (2017)
Metabolic status of patients with muscular dystrophy in early phase of the disease: In vitro, high resolution NMR spectroscopy based metabolomics analysis of serum
Niraj Kumar Srivastava et al.
LIFE SCIENCES (2016)
Alternative Polyadenylation of mRNAs: 3′-Untranslated Region Matters in Gene Expression
Hsin-Sung Yeh et al.
MOLECULES AND CELLS (2016)
Coming of age: ten years of next-generation sequencing technologies
Sara Goodwin et al.
NATURE REVIEWS GENETICS (2016)
Identification of Targets of CUG-BP, Elav-Like Family Member 1 (CELF1) Regulation in Embryonic Heart Muscle
Yotam Blech-Hermoni et al.
PLOS ONE (2016)
Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy
Jongkyu Choi et al.
Scientific Reports (2016)
Dose-Dependent Regulation of Alternative Splicing by MBNL Proteins Reveals Biomarkers for Myotonic Dystrophy
Stacey D. Wagner et al.
PLOS GENETICS (2016)
Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy
Masayuki Nakamori et al.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2016)
The RNA Binding Protein Quaking Regulates Formation of circRNAs
Simon J. Conn et al.
CELL (2015)
Developmental Insights Into the Pathology of and Therapeutic Strategies for DM1: Back to the Basics
Anthony Chau et al.
DEVELOPMENTAL DYNAMICS (2015)
Increased autophagy and apoptosis contribute to muscle atrophy in a myotonic dystrophy type 1 Drosophila model
Ariadna Bargiela et al.
DISEASE MODELS & MECHANISMS (2015)
Antagonistic regulation of mRNA expression and splicing by CELF and MBNL proteins
Eric T. Wang et al.
GENOME RESEARCH (2015)
MBNL Sequestration by Toxic RNAs and RNA Misprocessing in the Myotonic Dystrophy Brain
Marianne Goodwin et al.
CELL REPORTS (2015)
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin
Delphine Laustriat et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (2015)
Loss of MBNL Leads to Disruption of Developmentally Regulated Alternative Polyadenylation in RNA-Mediated Disease
Ranjan Batra et al.
MOLECULAR CELL (2014)
Prevalence of Muscular Dystrophies: A Systematic Literature Review
Alice Theadom et al.
NEUROEPIDEMIOLOGY (2014)
Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophies
Linda L. Bachinski et al.
NEUROMUSCULAR DISORDERS (2014)
MBNL proteins and their target RNAs, interaction and splicing regulation
Patryk Konieczny et al.
NUCLEIC ACIDS RESEARCH (2014)
The Mef2 Transcription Network Is Disrupted in Myotonic Dystrophy Heart Tissue, Dramatically Altering miRNA and mRNA Expression
Auinash Kalsotra et al.
CELL REPORTS (2014)
Splicing Biomarkers of Disease Severity in Myotonic Dystrophy
Masayuki Nakamori et al.
ANNALS OF NEUROLOGY (2013)
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour
Oscar Hernandez-Hernandez et al.
BRAIN (2013)
Compound loss of muscleblind-like function in myotonic dystrophy
Kuang-Yung Lee et al.
EMBO MOLECULAR MEDICINE (2013)
Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins
Eric T. Wang et al.
CELL (2012)
Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts
Jeremy D. Rhodes et al.
HUMAN MOLECULAR GENETICS (2012)
Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity
Fernando Morales et al.
HUMAN MOLECULAR GENETICS (2012)
Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus
Aline Huguet et al.
PLOS GENETICS (2012)
The importance of CELF control: molecular and biological roles of the CUG-BP, Elav-like family of RNA-binding proteins
Twishasri Dasgupta et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2012)
Decoding muscle alternative splicing
Miriam Llorian et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2011)
Ending the message: poly(A) signals then and now
Nick J. Proudfoot
GENES & DEVELOPMENT (2011)
A critical role for TCF-1 in T-lineage specification and differentiation
Brittany Nicole Weber et al.
NATURE (2011)
Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy
Frederique Rau et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2011)
Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells
Claudia Huichalaf et al.
FASEB JOURNAL (2010)
RNA-binding Protein Muscleblind-like 3 (MBNL3) Disrupts Myocyte Enhancer Factor 2 (Mef2) β-Exon Splicing
Kyung-Soon Lee et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy
Hongqing Du et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2010)
Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene
Zuzana Musova et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Applications of New Sequencing Technologies for Transcriptome Analysis
Olena Morozova et al.
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS (2009)
Pentamidine reverses the splicing defects associated with myotonic dystrophy
M. Bryan Warf et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing
Qun Pan et al.
NATURE GENETICS (2008)
A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart
Auinash Kalsotra et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
CTG trinucleotide repeat big jumps: Large expansions, small mice
Mario Gomes-Pereira et al.
PLOS GENETICS (2007)
Cerebral involvement in myotonic dystrophies
Giovanni Meola et al.
MUSCLE & NERVE (2007)
MicroRNAs: Genomics, biogenesis, mechanism, and function
DP Bartel
CELL (2004)
RNA leaching of transcription factors disrupts transcription in myotonic dystrophy
A Ebralidze et al.
SCIENCE (2004)
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
H Jiang et al.
HUMAN MOLECULAR GENETICS (2004)
A muscleblind knockout model for myotonic dystrophy
RN Kanadia et al.
SCIENCE (2003)
Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3
RN Kanadia et al.
GENE EXPRESSION PATTERNS (2003)
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
M Fardaei et al.
HUMAN MOLECULAR GENETICS (2002)
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat
A Mankodi et al.
SCIENCE (2000)
Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy
TR Klesert et al.
NATURE GENETICS (2000)