Results 41 to 50 of about 30,223 (276)
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study
Children, 2023 Introduction: The Performance of Upper Limb version 2.0 (PUL 2.0) is increasingly used in Duchenne Muscular Dystrophy (DMD) to study longitudinal functional changes of motor upper limb function in ambulant and non-ambulant patients. The aim of this study
Claudia Brogna +20 more
doaj +1 more source
Molecular Therapy: Nucleic Acids, 2018 Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF) gene. Dysferlin protein plays a major role in plasma-membrane resealing.
Joshua J.A. Lee +4 more
doaj +1 more source
Minigenes to Confirm Exon Skipping Mutations
, 2012 Although several bioinformatic tools exist to predict the effect on splicing of a nucleotide change, experimental verification with minigenes is essential for diagnostic purposes, as well as for revealing disease mechanisms and monitoring therapeutic interventions.
Desviat, Lourdes R. +2 more
openaire +3 more sources
Promoter Architecture Modulates CFTR Exon 9 Skipping [PDF]
Journal of Biological Chemistry, 2003 Using hybrid minigene experiments, we have investigated the role of the promoter architecture on the regulation of two alternative spliced exons, cystic fibrosis transmembrane regulator (CFTR) exon 9 and fibronectin extra domain-A (EDB). A specific alternative splicing pattern corresponded to each analyzed promoter.
Franco, Pagani +4 more
openaire +2 more sources
Cwf16p Associating with the Nineteen Complex Ensures Ordered Exon Joining in Constitutive Pre-mRNA Splicing in Fission Yeast. [PDF]
PLoS ONE, 2015 Exons are ligated in an ordered manner without the skipping of exons in the constitutive splicing of pre-mRNAs with multiple introns. To identify factors ensuring ordered exon joining in constitutive pre-mRNA splicing, we previously screened for exon ...
Noriko Sasaki-Haraguchi +5 more
doaj +1 more source
A BRCA1 Nonsense Mutation Causes Exon Skipping [PDF]
The American Journal of Human Genetics, 1998 The authors would like to thank the family members. We also thank C. Bonnardel, L. Boutrand, T. Conway, J. Lynch, S. Slominski, and P. Watson, for their expert assistance. This work was supported by program grants from le Comite Departemental de l'Ain de La Ligue contre le Cancer, the Council for Tobacco Research (grant 127DR@), the U.S.
Mazoyer, Sylvie +5 more
openaire +2 more sources
Molecular Oncology, EarlyView.Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande +11 more
wiley +1 more source
Supplementary Data from Tepotinib Efficacy and Safety in Patients with <i>MET</i> Exon 14 Skipping NSCLC: Outcomes in Patient Subgroups from the VISION Study with Relevance for Clinical Practice [PDF]
, 2023 Xiuning Le +29 more
openalex +2 more sources
Scientific Reports, 2021 Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45 skipping. We
Pablo Beckers +7 more
doaj +1 more source
Exon-skipping advances for Duchenne muscular dystrophy [PDF]
Human Molecular Genetics, 2018 Duchenne muscular dystrophy (DMD) is a fatal genetic disorder characterized by progressive muscle wasting that has currently no cure. Exon-skipping strategy represents one of the most promising therapeutic approaches that aim to restore expression of a shorter but functional dystrophin protein.
Lucía, Echevarría +2 more
openaire +2 more sources