Results 231 to 240 of about 30,223 (276)

Response and acquired resistance to savolitinib in a patient with pulmonary sarcomatoid carcinoma harboring MET exon 14 skipping mutation: a case report

, 2019
Shuai Han, Jian Fang, Sheng Lu, L Wang, Jing Li, M.-L. Cheng, Yuezhong Ren, Su W   +7 more
openalex   +1 more source

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C. [PDF]

J Hum Genet
Zaki MS, Abdel-Ghafar SF, Abdel-Hamid MS.   +2 more
europepmc   +1 more source

Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study. [PDF]

J Neuromuscul Dis
Nicolau S, Malhotra J, Kaler M, Magistrado-Coxen P, Iammarino MA, Reash NF, Frair EC, Wijeratne S, Kelly BJ, White P, Lowes LP, Waldrop MA, Flanigan KM.   +12 more
europepmc   +1 more source

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Histone modifications influence skipped exons inclusion

Journal of Bioinformatics and Computational Biology, 2017
Alternative splicing (AS), by which individual genes can produce multiple mRNA, associates with genomic complexity, disease, and development. Histone modifications show important roles in both transcription initiation and mRNA splicing. Here, we intended to find the link between AS and histone modifications in flanking regions through analyzing ...
Yue, Hou, Huan, Huang, Wenqiao, Hu, Hongde, Liu, Xiao, Sun   +4 more
openaire   +2 more sources

Exon-skipping therapy for Duchenne muscular dystrophy

The Lancet, 2009
Duchenne muscular dystrophy (DMD) is a lethal muscle disorder caused by mutations in the DMD gene for which no mutation‐targeted therapy has been available thus far. However, exon‐skipping mediated by antisense oligonucleotides (AOs), which are short single‐strand DNAs, has considerable potential for DMD therapy, and clinical trials in DMD patients are
Akinori, Nakamura, Shin'ichi, Takeda
openaire   +3 more sources

DNA Diagnostics and Exon Skipping

2012
The predominate form of DNA diagnostics remains nucleic acid sequencing in the research and clinical setting. While DNA sequencing allows a mutation to be correctly identified, only RNA sequencing can confirm the effect of that mutation on the resulting mRNA transcript.
Umasuthan, Srirangalingam, Shern L, Chew
openaire   +2 more sources

Exon Skipping Mutations in Neurofibromatosis

2012
Defects at the level of pre-mRNA splicing represent a common source of disease mutations in almost all known diseases with a genetic aetiology. In general, it is commonly accepted that 15% of all pathogenic mutations are caused by splicing defects. However, this is probably a conservative estimate since clinical practice has only recently begun to ...
Buratti, Emanuele, Baralle, Diana
openaire   +3 more sources

Overview on DMD Exon Skipping

2012
Antisense-mediated exon skipping to restore the disrupted dystrophin reading frame is currently in clinical trials for Duchenne muscular dystrophy. This chapter describes the rationale of this approach and gives an overview of in vitro and in vivo experiments with antisense oligonucleotides and antisense genes.
openaire   +4 more sources

Exon skipping therapy for Duchenne muscular dystrophy

Advanced Drug Delivery Reviews, 2015
Duchenne muscular dystrophy (DMD) is caused mostly by internal deletions in the gene for dystrophin, a protein essential for maintaining muscle cell membrane integrity. These deletions abrogate the reading frame and the lack of dystrophin results in progressive muscle deterioration.
Ryszard, Kole, Arthur M, Krieg
openaire   +2 more sources

Exon Skipping Quantification by Real-Time PCR

2012
Antisense oligonucleotide (AON)-mediated exon skipping is a therapeutic approach for subsets of Duchenne muscular dystrophy (DMD) patients to ameliorate the severe DMD phenotype. Several groups have successfully induced exon skipping by AONs to reframe the mRNA in various patients carrying deletions, and phase I/II clinical trials are ongoing.
FERLINI, Alessandra, RIMESSI, Paola
openaire   +2 more sources