Associated Papers
Evaluation of Readthrough Efficiency of Negamycin Derivatives against Nonsense Mutations in Muscular Dystrophy Genes.
Omura N et al.
Biological & Pharmaceutical Bulletin, 2026
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Zhao L et al.
Orphanet Journal of Rare Diseases, 2024
Correction of human nonsense mutation via adenine base editing for Duchenne muscular dystrophy treatment in mouse.
Jin M et al.
Molecular Therapy. Nucleic Acids, 2024
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations.
Suárez-Calvet X et al.
Cell Death & Disease, 2023
2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.
Bidou L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Bioenergetic and Metabolic Impairments in Induced Pluripotent Stem Cell-Derived Cardiomyocytes Generated from Duchenne Muscular Dystrophy Patients.
Willi L et al.
International Journal of Molecular Sciences, 2022
SNTA1 gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients.
Jimenez-Vazquez EN et al.
Elife, 2022
Genetic Analysis of Forty MLPA-Negative Duchenne Muscular Dystrophy Patients by Whole-Exome Sequencing.
Zamani GR et al.
Journal of Molecular Neuroscience : Mn, 2022
Application of Patient-Specific iPSCs for Modelling and Treatment of X-Linked Cardiomyopathies.
Zhang J et al.
International Journal of Molecular Sciences, 2021
Efficient precise in vivo base editing in adult dystrophic mice.
Xu L et al.
Nature Communications, 2021
Depressed β-adrenergic inotropic responsiveness and intracellular calcium handling abnormalities in Duchenne Muscular Dystrophy patients' induced pluripotent stem cell-derived cardiomyocytes.
Mekies LN et al.
Journal of Cellular and Molecular Medicine, 2021
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.
Nagabushana D et al.
Journal of Neuromuscular Diseases, 2021
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
Yun U et al.
Plos One, 2021
Genotype and age at diagnosis in Thai boys with Duchenne muscular dystrophy (DMD).
Yamputchong P et al.
Neuromuscular Disorders : Nmd, 2020
Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.
Kohli S et al.
Indian Journal of Pediatrics, 2020
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.
Okubo M et al.
Human Genetics, 2020
The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.
Pourrier M et al.
International Journal of Molecular Sciences, 2020
Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy.
Pioner JM et al.
Frontiers in Physiology, 2020
Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.
Kumar SH et al.
Plos One, 2020
Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.
Zhang J et al.
Bmc Medical Genetics, 2019
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Brodehl A et al.
International Journal of Molecular Sciences, 2019
X-chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations.
He WB et al.
Prenatal Diagnosis, 2019
Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients.
Eisen B et al.
Journal of Cellular and Molecular Medicine, 2019
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.
Wang L et al.
Frontiers in Genetics, 2019
Comprehensive genetic characteristics of dystrophinopathies in China.
Ma P et al.
Orphanet Journal of Rare Diseases, 2018
Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.
Yamamoto T et al.
Circulation. Genomic and Precision Medicine, 2018
Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China.
Wang DN et al.
Neuromuscular Disorders : Nmd, 2017
Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.
Taniguchi-Ikeda M et al.
Journal of Human Genetics, 2016
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.
Guo R et al.
Journal of Human Genetics, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.
Finkel RS et al.
Plos One, 2013
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
Takeshima Y et al.
Journal of Human Genetics, 2010
One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.
Torella A et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.
Cunniff C et al.
Journal of Child Neurology, 2009
Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.
Nishiyama A et al.
Annals of Human Genetics, 2008
Introducing sense into nonsense in treatments of human genetic diseases.
Linde L et al.
Trends in Genetics : Tig, 2008
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
Béroud C et al.
Human Mutation, 2007
Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
Bunyan DJ et al.
Molecular Biotechnology, 2007
Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection.
Hamed SA et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
Buzin CH et al.
Human Mutation, 2005
Chimeric RNA/ethylene-bridged nucleic acids promote dystrophin expression in myocytes of duchenne muscular dystrophy by inducing skipping of the nonsense mutation-encoding exon.
Surono A et al.
Human Gene Therapy, 2004