Results 141 to 150 of about 12,984 (193)

When RNA goes off script: ensuring transcript fidelity in transgene expression. [PDF]

EMBO J
Anderson R, Ausler C, Jain A.
europepmc   +1 more source

Spliceosomal mutation drives melanoma tumorigenesis via lineage-specific RAS activation. [PDF]

Sci Adv
Jiang R, Xing P, Xie J, Bai G, Zhang Y, Hou P, Luo H, Ma Y, Liu R, Zheng Y, Chen X, Jiang B, Huang J, Zhang Y, Shain AH, Lei M, Judson-Torres RL, Ye J, Liu Z, Zeng H.   +19 more
europepmc   +1 more source

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application to FOXP1. [PDF]

Hum Genomics
Planté-Bordeneuve P, Jourdain AS, Thuillier C, Caux A, Tessarech M, Meneboo JP, Ait-Yahya E, Costantini S, Brunelle P, Smol T.   +9 more
europepmc   +1 more source

Expanding the toolbox: Emerging antisense oligonucleotide mechanisms for modulating gene expression. [PDF]

Mol Ther Nucleic Acids
Trew I, Wilton SD, Cale JM, Aung-Htut M.
europepmc   +1 more source

A Novel Pathogenic <i>CHD7</i> Splice-Site Variant in a Neonate with CHARGE Syndrome Identified by Blood RNA Analysis. [PDF]

Ann Lab Med
Yu S, Jang JH, Yang M, Chang YS, Kim H, Jang MA.   +5 more
europepmc   +1 more source

A New TYR Splice Donor Variant Causing Oculocutaneous Albinism Type I in Angus Cattle. [PDF]

Anim Genet
Eager KLM, Carter PD, Brancalion L, Willet CE, O'Rourke BA, Tammen I.   +5 more
europepmc   +1 more source

Functional impact of a deep intronic variant in the RPS19 gene detected in a case of Diamond-Blackfan anemia syndrome. [PDF]

Haematologica
Kanezaki R, Toki T, Okuse R, Kobayashi A, Sato M, Kimura S, Kudo K, Sato T, Tanaka T, Yoshida K, Kawai Y, Tokunaga K, Takita J, Ogawa S, Terui K, Ito E.   +15 more
europepmc   +1 more source

FACS-based dual fluorescence reporter assay demonstrates efficacy of antisense oligonucleotide therapy of novel <i>PRPF3</i> intronic splice variant. [PDF]

Mol Ther Nucleic Acids
Dolgin V, Eremenko E, Narkis G, Mazor-Oring M, Gradstein L, Birk OS.   +5 more
europepmc   +1 more source

A Plot Twist: When RNA Yields Unexpected Findings in Paired DNA-RNA Germline Genetic Testing. [PDF]

Genes (Basel)
Zimmermann H, Brannan T, Young C, Ramirez Castano J, Horton C, Richardson A, Molparia B, Richardson ME.   +7 more
europepmc   +1 more source

SpliceSelectNet: a hierarchical Transformer-based deep learning model for splice site prediction. [PDF]

Nucleic Acids Res
Miyachi Y, Nakai K.
europepmc   +1 more source