Results 51 to 60 of about 51,494 (318)

Wild-type mouse models to screen antisense oligonucleotides for exon-skipping efficacy in Duchenne muscular dystrophy. [PDF]

PLoS ONE, 2014
A readily available animal model is essential for rapidly identifying effective treatments for Duchenne muscular dystrophy (DMD), a devastating neuromuscular disorder caused by the lack of dystrophin protein, which results from frame-disrupting mutations
Limin Cao, Gang Han, Ben Gu, HaiFang Yin
doaj   +1 more source

The contribution of Alu exons to the human proteome. [PDF]

, 2016
BackgroundAlu elements are major contributors to lineage-specific new exons in primate and human genomes. Recent studies indicate that some Alu exons have high transcript inclusion levels or tissue-specific splicing profiles, and may play important ...
Jiang, Peng, Lam, Maggie PY, Lin, Lan, Lu, Zhi-Xiang, Park, Juw Won, Ping, Peipei, Wang, Jinkai, Xing, Yi   +7 more
core   +1 more source

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

Molecular Genetics & Genomic Medicine, 2021
Background Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert ...
Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer   +5 more
doaj   +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
Clark, AJL, David, A, Khoo, B, Metherell, LA, Srirangalingam, U   +4 more
core   +1 more source

Identification of Novel Antisense-Mediated Exon Skipping Targets in DYSF for Therapeutic Treatment of Dysferlinopathy

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, Rika Maruyama, William Duddy, Hidetoshi Sakurai, Toshifumi Yokota   +4 more
doaj   +1 more source

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, Marika Pane, Giorgia Coratti, Adele D’Amico, Elena Pegoraro, Luca Bello, Valeria Ada Maria Sansone, Emilio Albamonte, Sonia Messina, Antonella Pini, Maria Grazia D’Angelo, Claudio Bruno, Tiziana Mongini, Federica Silvia Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Enrico Silvio Bertini, Luisa Politano, Eugenio Mercuri, Italian DMD Group   +20 more
doaj   +1 more source

Multiple exon skipping strategies to by-pass dystrophin mutations. [PDF]

, 2011
Manipulation of dystrophin pre-mRNA processing offers the potential to overcome mutations in the dystrophin gene that would otherwise lead to Duchenne muscular dystrophy.
Adams, AM, Adkin, CF, Fletcher, S, Meloni, PL, Muntoni, F, Wilton, SD, Wong, B   +6 more
core   +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., Pérez, Belén, Ugarte, Magdalena   +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, Cristiana, Stuani, Elisabetta, Zuccato, Alberto R, Kornblihtt, Francisco E, Baralle   +4 more
openaire   +2 more sources

A novel protein isoform of the RON tyrosine kinase receptor transforms human pancreatic duct epithelial cells. [PDF]

, 2016
The MST1R gene is overexpressed in pancreatic cancer producing elevated levels of the RON tyrosine kinase receptor protein. While mutations in MST1R are rare, alternative splice variants have been previously reported in epithelial cancers.
Babicky, M, Chakedis, J, French, R, Holman, P, Howard, H, Jaquish, D, Lam, R, Lowy, AM, Miyamoto, J, Mose, E, Walterscheid, Z   +10 more
core   +5 more sources