Results 61 to 70 of about 127,159 (238)
Autologous stem cell therapy combined with exon skipping
, 2012 The selected cells are muscle-derived “AC-133” precursors (Yvan Torrente, Milan). This material is difficult to isolate and to amplify ex vivo without losing its myogenic properties.
Y. Torrente
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FEBS Open Bio, EarlyView.The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti +5 more
wiley +1 more source
Sintesi e Purificazione di Oligonucleotidi e Nucleosidi 2’- funzionalizzati [PDF]
, 2009 Oligonucleotides (ON) are commonly used as research reagents to modulate gene expression in cell culture and in animal models. Various chemistries of ON have been synthesized, incorporating modifications to the phosphodiester backbone, sugar or ...
Mari, Lara
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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Targeted Exon Skipping to Correct Exon Duplications in the Dystrophin Gene
Molecular Therapy - Nucleic Acids, 2014 Duchenne muscular dystrophy is a severe muscle-wasting disease caused by mutations in the dystrophin gene that ablate functional protein expression. Although exonic deletions are the most common Duchenne muscular dystrophy lesion, duplications account for 10-15% of reported disease-causing mutations, and exon 2 is the most commonly duplicated exon ...
Greer, K.L. +4 more
openaire +3 more sources
Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane +19 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang +13 more
wiley +1 more source
Advanced Science, EarlyView.Phase separation of SF3B1 acts as a key regulatory mechanism for dynamic alternative splicing throughout early mouse embryogenesis. Its absence triggers extensive splicing errors, which induce persistent DNA damage, defective cell cycle progression, and failed cell lineage commitment, and ultimately hinder the normal growth and development of ...
Kang Zhao +15 more
wiley +1 more source
Advanced Science, EarlyView.PTBP1‐mediated alternative splicing drives a pathogenic switch to the DNAJB6b isoform in everolimus‐resistant clear cell renal cell carcinoma. This splicing event programs a positive feedback loop including EIF4B/PKIB/AKT/mTOR, promoting aggressive therapy resistance.
Xiu‐wu Pan +18 more
wiley +1 more source
Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon [PDF]
, 2010 Context: The GH receptor (GHR) pseudoexon 6 Psi defect is a frequent cause of GH insensitivity (GHI) resulting from a non-functioning GH receptor (GHR). It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic
Srirangalingam, U +4 more
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