Results 221 to 230 of about 30,223 (276)

A Comprehensive Analysis of CSN1S2 I and II Transcripts Reveals Significant Genetic Diversity and Allele-Specific Exon Skipping in Ragusana and Amiatina Donkeys. [PDF]

Animals (Basel)
Cosenza G, Pauciullo A.
europepmc   +1 more source

Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X

, 2007
Isabel Aznarez, Julian Zielenski, Johanna M. Rommens, Benjamin J. Blencowe, L.‐C. Tsui   +4 more
openalex   +1 more source

Highly efficient CRISPR/Cas9-mediated exon skipping for recessive dystrophic epidermolysis bullosa. [PDF]

Bioeng Transl Med
du Rand A, Hunt J, Samson C, Loef E, Malhi C, Meidinger S, Chen CJ, Nutsford A, Taylor J, Dunbar R, Purvis D, Feisst V, Sheppard H.   +12 more
europepmc   +1 more source

Twin Prime Editing Mediated Exon Skipping/Reinsertion for Restored Collagen VII Expression in Recessive Dystrophic Epidermolysis Bullosa. [PDF]

J Invest Dermatol
Steinbeck BJ, Gao XD, McElroy AN, Pandey S, Doman JL, Riddle MJ, Xia L, Chen W, Eide CR, Lengert AH, Han SW, Blazar BR, Wandall HH, Dabelsteen S, Liu DR, Tolar J, Osborn MJ.   +16 more
europepmc   +1 more source

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

Author Correction: 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

Localization of exon-skipping RGR-d opsin and C5b-9 deposits in Bruch’s membrane of mice

, 2019
Xuan Bao, Zhaoxia Zhang, Fred N. Ross‐Cisneros, Alfredo A. Sadun, Christopher Buser, Xiaohua Li, Mingwei Zhao, Henry Fong   +7 more
openalex   +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

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

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