Results 151 to 160 of about 127,159 (238)

An antisense method for efficient exon skipping and its application to Duchenne muscular dystrophy. [PDF]

Proc Natl Acad Sci U S A
Feng P, Gao P, Meng S, Yuan Y, Krainer AR, Hua Y.   +5 more
europepmc   +1 more source

A skip in time: Frame-restoring exon skipping counters premature aging in Werner syndrome. [PDF]

Mol Ther Nucleic Acids
Paccosi E, Filippi S, Proietti-De-Santis L.   +2 more
europepmc   +1 more source

Exon-skipping antisense oligonucleotides for H3.3K27M-altered diffuse midline glioma therapy. [PDF]

Mol Ther Nucleic Acids
Yang L, Zhang Q, Wilkinson JE, Deshpande S, Krainer AR.   +4 more
europepmc   +1 more source

Acidosis promotes exon skipping through sequestering SR-rich splicing factors in nuclear speckles. [PDF]

Front Mol Biosci
Shtork AS, Rubtsov PV, Kazakova AN, Pavlova II, Ivanova OM, Illarionova SE, Bogomiakova ME, Sizova SV, Proshkina GM, Strokach AA, Klimina KM, Shender VO, Deyev SM, Arapidi GP, Varizhuk AM.   +14 more
europepmc   +1 more source

Evaluating exon skipping in the central nervous system in Duchenne muscular dystrophy using spatial transcriptomics. [PDF]

iScience
Mao Q, Ahmadi A, de Vries S, Heezen LGM, Vacca O, Doisy M, Aartsma-Rus A, van Putten M, Goyenvalle A, Mahfouz A, Spitali P.   +10 more
europepmc   +1 more source

Identification of the MYH6 c.804G>C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family. [PDF]

Mol Genet Genomic Med
Zhang S, Tang X, Yang L, Wang Y, Cui Y, Chen X.   +5 more
europepmc   +1 more source

Relevance of functional studies for assessing an antisense oligonucleotide-mediated exon skipping therapeutic strategy for mucolipidosis type II. [PDF]

Orphanet J Rare Dis
Gonçalves M, Encarnação M, Moreira L, Gaspar P, Duarte AJ, Coutinho MF, Santos JI, Prata MJ, Omidi M, Euchner N, Pohl S, Silva F, Oliveira P, Matos L, Alves S.   +14 more
europepmc   +1 more source

Inverted Alu repeats in loop-out exon skipping across hominoid evolution. [PDF]

Nucleic Acids Res
Denisko D, Kim J, Ku J, Zhao B, Lee EA.
europepmc   +1 more source

Precision medicine through antisense oligonucleotide-mediated exon skipping

, 2018
It has been well established that some genes contain exons that can be omitted from the mature mRNA without seriously compromising gene function, while protein-truncating or missense mutations in those exons cause serious disease.
Mastaglia, F.L., Li, D., Wilton, S.D., Fletcher, S.   +3 more
core  

Alu-mediated RNA duplexes are associated with widespread exon skipping across primate transcriptomes. [PDF]

Genome Biol
Lee H, Cao X, Parada GE, Li JD, Iosub IA, Braunschweig U, Rebelo K, Ule J, Wan Y, Blencowe BJ.   +9 more
europepmc   +1 more source