Results 281 to 290 of about 240,839 (324)

Cellular senescence induced by down-regulation of PTBP1 correlates with exon skipping of mitochondrial-related gene NDUFV3. [PDF]

Life Med
Yang Y, Wen H, Li Y, Zeng X, Wei G, Gu Z, Ni T.   +6 more
europepmc   +1 more source

Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy. [PDF]

EMBO Mol Med
Galli F, Bragg L, Rossi M, Proietti D, Perani L, Bacigaluppi M, Tonlorenzi R, Sibanda T, Caffarini M, Talapatra A, Santoleri S, Meregalli M, Bano-Otalora B, Bigot A, Bozzoni I, Bonini C, Mouly V, Torrente Y, Cossu G.   +18 more
europepmc   +1 more source

Rescue of Dystrophic Muscle Through U7 snRNA-Mediated Exon Skipping

, 2004
Aurélie Goyenvalle, Adeline Vulin, Françoise Fougerousse, France Leturcq, Jean‐Claude Kaplan, Luis Garcı́a, Olivier Danos   +6 more
openalex   +1 more source

PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease. [PDF]

Invest Ophthalmol Vis Sci
Daich Varela M, Schiff E, Malka S, Wright G, Mahroo OA, Webster AR, Michaelides M, Arno G.   +7 more
europepmc   +1 more source

Targeted Exon Skipping in Transgenic hDMD Mice: A Model for Direct Preclinical Screening of Human-Specific Antisense Oligonucleotides

, 2004
Mattie Bremmer-Bout, Annemieke Aartsma‐Rus, Emile J. de Meijer, Wendy E. Kaman, Anneke A. M. Janson, Rolf H. A. M. Vossen, Gert‐Jan B. van Ommen, Johan T. den Dunnen, J.C.T. van Deutekom   +8 more
openalex   +1 more source

Single-Base Substitution Causing Dual-Exon Skipping Event in PKD2 Gene: Unusual Molecular Finding from Exome Sequencing in a Patient with Autosomal Dominant Polycystic Kidney Disease. [PDF]

J Clin Med
De Paolis E, Raspaglio G, Ciferri N, Zangrilli I, Ricciardi Tenore C, Urbani A, Ferraro PM, Minucci A, Concolino P.   +8 more
europepmc   +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

Targeted Skipping of a Single Exon Harboring a Premature Termination Codon Mutation: Implications and Potential for Gene Correction Therapy for Selective Dystrophic Epidermolysis Bullosa Patients

, 2006
Maki Goto, Daisuke Sawamura, Wataru Nishie, Kaori Sakai, James R. McMillan, Masashi Akiyama, Hiroshi Shimizu   +6 more
openalex   +1 more source

918. Rescue of Dystrophin in the GRMD Dog by Multi-Exon Skipping Using Engineered U7 snRNAs

, 2006
Adeline Vulin, Aurélie Goyenvalle, Inès Barthélémy, France Leturcq, Jean‐Claude Kaplan, Olivier Danos, Stéphane Blot, Luis Garcı́a   +7 more
openalex   +1 more source