Works matching DE "DYSTROPHIN genes"
Results: 361
Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
Early Cardiac Dysfunction in Duchenne Muscular Dystrophy: A Case Report and Literature Update.
- Published in:
- International Journal of Molecular Sciences, 2025, v. 26, n. 4, p. 1685, doi. 10.3390/ijms26041685
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- Publication type:
- Article
MUTATION ANALYSIS OF DYSTROPHIN GENE IN MALAYSIAN DUCHENNE MUSCULAR DYSTROPHY (DMD) PATIENTS.
- Published in:
- Malaysian Journal of Medical Sciences, 2008, p. 28
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- Publication type:
- Article
Chemical Proteomics and Phenotypic Profiling Identifies the Aryl Hydrocarbon Receptor as a Molecular Target of the Utrophin Modulator Ezutromid.
- Published in:
- Angewandte Chemie, 2020, v. 132, n. 6, p. 2441, doi. 10.1002/ange.201912392
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- Publication type:
- Article
Clinical management of Duchenne muscular dystrophy: the state of the art.
- Published in:
- 2018
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- Publication type:
- journal article
Minidystrophin<sup>ΔH2-R19</sup> Improves Akt Expression and P70 S6 Kinase Activation During Dystrophin-Deficient Myoblasts Differentiation.
- Published in:
- Malaysian Journal of Medicine & Health Sciences, 2022, v. 18, p. 38
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- Publication type:
- Article
Advances in Dystrophinopathy Diagnosis and Therapy.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1319, doi. 10.3390/biom13091319
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- Publication type:
- Article
Perspective: Spectrin-Like Repeats in Dystrophin Have Unique Binding Preferences for Syntrophin Adaptors That Explain the Mystery of How nNOSμ Localizes to the Sarcolemma.
- Published in:
- Frontiers in Psychology, 2018, p. N.PAG, doi. 10.3389/fphys.2018.01369
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- Publication type:
- Article
CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy.
- Published in:
- Skeletal Muscle, 2015, v. 5, p. 1, doi. 10.1186/s13395-015-0066-2
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- Publication type:
- Article
Elusive sources of variability of dystrophin rescue by exon skipping.
- Published in:
- Skeletal Muscle, 2015, v. 5, p. 1, doi. 10.1186/s13395-015-0070-6
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- Publication type:
- Article
Pax3-induced expansion enables the genetic correction of dystrophic satellite cells.
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- Skeletal Muscle, 2015, v. 5, p. 1, doi. 10.1186/s13395-015-0061-7
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- Publication type:
- Article
New generation gene therapies: preclinical and clinical applications in rare neuromuscular disorders.
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- Anatomy: International Journal of Experimental & Clinical Anatomy, 2019, v. 13, n. S1, p. S3
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- Publication type:
- Article
Dystrophin gene editing by CRISPR/Cas9 system in human skeletal muscle cell line (HSkMC).
- Published in:
- Iranian Journal of Basic Medical Sciences, 2021, v. 24, n. 8, p. 1153, doi. 10.22038/IJBMS.2021.54711.12269
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- Publication type:
- Article
Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.
- Published in:
- Application of Clinical Genetics, 2021, v. 14, p. 399, doi. 10.2147/TACG.S317721
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- Publication type:
- Article
Sertoli cells have promyogenic and antifibrotic effects, and induce utrophin expression in human DMD myotubes with different mutations in a heregulin β1/ErbB2/ERK1/2-dependent manner.
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2021, v. 125, p. 213
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- Publication type:
- Article
Rooting Out a Novel Stress Syndrome in Pigs.
- Published in:
- Agricultural Research, 2013, v. 61, n. 4, p. 16
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- Publication type:
- Article
Characterization of brain dystrophins absence and impact in dystrophin-deficient Dmd<sup>mdx</sup> rat model.
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- PLoS ONE, 2020, n. 3, p. 1, doi. 10.1371/journal.pone.0230083
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- Publication type:
- Article
Short interfering RNA-mediated gene targeting in the zebrafish
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- FEBS Letters, 2004, v. 561, n. 1-3, p. 89, doi. 10.1016/S0014-5793(04)00129-2
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- Publication type:
- Article
The dystrophin gene is alternatively spliced throughout its coding sequence
- Published in:
- FEBS Letters, 2002, v. 517, n. 1-3, p. 163, doi. 10.1016/S0014-5793(02)02613-3
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- Publication type:
- Article
The physiological response of protease inhibition in dystrophic muscle.
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- Acta Physiologica, 2013, v. 208, n. 3, p. 234, doi. 10.1111/apha.12114
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- Publication type:
- Article
Poster presentations.
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- Developmental Medicine & Child Neurology, 2017, v. 59, p. 39, doi. 10.1111/dmcn.13623
- Publication type:
- Article
Reactive oxygen species promote sarcolemmal damage following ischemia and reperfusion of dystrophin-deficient muscles.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A449
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- Publication type:
- Article
A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast.
- Published in:
- FASEB Journal, 2006, v. 20, n. 11, p. 1910, doi. 10.1096/fj.05-5635fje
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- Publication type:
- Article
Clinical and Molecular Profile of Duchenne Muscular Dystrophy (DMD): Case-Record Analysis From Uttar Pradesh, India.
- Published in:
- Indian Pediatrics, 2024, v. 61, n. 12, p. 1119, doi. 10.1007/s13312-024-3333-7
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- Publication type:
- Article
Duchenne Muscular Dystrophy — Renewed Enthusiasm as We Enter the Era of Therapeutics!
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- Indian Pediatrics, 2024, v. 61, n. 12, p. 1093, doi. 10.1007/s13312-024-3327-5
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- Publication type:
- Article
Identification of hub genes and therapeutic siRNAs to develop novel adjunctive therapy for Duchenne muscular dystrophy.
- Published in:
- BMC Musculoskeletal Disorders, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12891-024-07206-6
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- Publication type:
- Article
Topoisomerase II Hypersensitive Sites in the 5"-Terminal Region of Human Dystrophin Gene.
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- Doklady Biochemistry & Biophysics, 2001, v. 378, n. 1-6, p. 198, doi. 10.1023/A:1011565229893
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- Publication type:
- Article
Stem cell treatment of dystrophic dogs.
- Published in:
- Nature, 2007, v. 450, n. 7173, p. E23, doi. 10.1038/nature06437
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- Publication type:
- Article
Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs.
- Published in:
- Nature, 2006, v. 444, n. 7119, p. 574, doi. 10.1038/nature05282
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- Publication type:
- Article
Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches.
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- Nature Reviews Genetics, 2013, v. 14, n. 6, p. 373, doi. 10.1038/nrg3460
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- Publication type:
- Article
SYSTEMATIC REVIEW OF GENETIC CAUSE IN DUCHENNE MUSCULAR DYSTROPHY.
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- Genetics & Applications, 2023, p. 63
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- Publication type:
- Article
Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.
- Published in:
- Human Genetics, 2016, v. 135, n. 7, p. 685, doi. 10.1007/s00439-016-1666-6
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- Publication type:
- Article
Regional genomic instability predisposes to complex dystrophin gene rearrangements.
- Published in:
- Human Genetics, 2009, v. 126, n. 3, p. 411, doi. 10.1007/s00439-009-0679-9
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- Publication type:
- Article
Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot.
- Published in:
- Human Genetics, 2003, v. 112, n. 3, p. 272, doi. 10.1007/s00439-002-0881-5
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- Publication type:
- Article
Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 164, doi. 10.1007/s00439-002-0854-8
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- Publication type:
- Article
Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay?
- Published in:
- Human Genetics, 2001, v. 109, n. 4, p. 402, doi. 10.1007/s004390100598
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- Publication type:
- Article
Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms.
- Published in:
- Human Genetics, 2001, v. 109, n. 1, p. 73, doi. 10.1007/s004390100547
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- Publication type:
- Article
Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Clinical Case on the Potential Role of the Dystrophin in Autism Neurobiology.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 820, doi. 10.3390/jcm10040820
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- Publication type:
- Article
Mechanisms of Chimeric Cell Therapy in Duchenne Muscular Dystrophy.
- Published in:
- Biomedicines, 2024, v. 12, n. 9, p. 1996, doi. 10.3390/biomedicines12091996
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- Publication type:
- Article
Amelioration of Morphological Pathology in Cardiac, Respiratory, and Skeletal Muscles Following Intraosseous Administration of Human Dystrophin Expressing Chimeric (DEC) Cells in Duchenne Muscular Dystrophy Model.
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- Biomedicines, 2024, v. 12, n. 3, p. 586, doi. 10.3390/biomedicines12030586
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- Publication type:
- Article
Does β-Hydroxy-β-Methylbutyrate Have Any Potential to Support the Treatment of Duchenne Muscular Dystrophy in Humans and Animals?
- Published in:
- Biomedicines, 2023, v. 11, n. 8, p. 2329, doi. 10.3390/biomedicines11082329
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- Publication type:
- Article
When Size Really Matters: The Eccentricities of Dystrophin Transcription and the Hazards of Quantifying mRNA from Very Long Genes.
- Published in:
- Biomedicines, 2023, v. 11, n. 7, p. 2082, doi. 10.3390/biomedicines11072082
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- Publication type:
- Article
Next-Generation SINE Compound KPT−8602 Ameliorates Dystrophic Pathology in Zebrafish and Mouse Models of DMD.
- Published in:
- Biomedicines, 2022, v. 10, n. 10, p. N.PAG, doi. 10.3390/biomedicines10102400
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- Publication type:
- Article
Inflammation in Duchenne Muscular Dystrophy–Exploring the Role of Neutrophils in Muscle Damage and Regeneration.
- Published in:
- Biomedicines, 2021, v. 9, n. 10, p. 1366, doi. 10.3390/biomedicines9101366
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- Publication type:
- Article
Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2088
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- Publication type:
- Article
MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1759
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- Publication type:
- Article
Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1633
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- Publication type:
- Article
Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era.
- Published in:
- Journal of Personalized Medicine, 2020, v. 10, n. 3, p. 111, doi. 10.3390/jpm10030111
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- Publication type:
- Article
Applications of CRISPR/Cas9 for the Treatment of Duchenne Muscular Dystrophy.
- Published in:
- Journal of Personalized Medicine, 2018, v. 8, n. 4, p. 38, doi. 10.3390/jpm8040038
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- Publication type:
- Article