Results 131 to 140 of about 11,911 (175)

Smoking exposure alters splicing of the nicotinic acetylcholine receptor subunit CHRNA5. [PDF]

Hum Genomics
Hogshead MH, Adu-Gyamfi A, Papenberg BW, Yan W, Lee CH, Florez-Vargas O, Prokunina-Olsson L.   +6 more
europepmc   +1 more source

A novel synonymous TSC2 mutation in a Chinese family leads to tuberous sclerosis type 2 by disrupting Normal pre-mRNA splicing. [PDF]

J Genet Eng Biotechnol
Zhang C, Li S, Leng R, Deng M, Yang G.
europepmc   +1 more source

Splice-altering TP53 missense mutations as drivers of dysfunction and targets for RNA-based therapy. [PDF]

Stem Cell Res Ther
Chung SK, Jung HB, Baek SJ, Park SM, Kim J, Lee SY, Min B, Kang YK.   +7 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

Dopamine D2 receptors bypass canonical signaling to directly tune NMDA receptor function and aversive learning. [PDF]

Sci Adv
Gong S, Adler J, Zhu Y, Szeto C, Lin L, Rauffenbart C, Torres-Herraez A, Asher WB, Javitch JA, Ford CP.   +9 more
europepmc   +1 more source

Pepitope facilitates TCR-neoantigen screen analysis in the R language. [PDF]

Bioinformatics
Broft M, Scheper W, Schubert M.
europepmc   +1 more source

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis. [PDF]

CEN Case Rep
Sy PM, Baba M, Fujiwara K, Yamamura N, Kawato K, Nishi E, Aoyama S, Kimura Y, Inoki Y, Nagano C, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Morisada N, Nozu K.   +15 more
europepmc   +1 more source

Splicing defect and functional characterization of the ETFDH c.1049G > A VUS underlying transient MADD: an iPSC and minigene study. [PDF]

Orphanet J Rare Dis
Dong R, Wang X, Zhang H, Liu G.
europepmc   +1 more source

Correction: Regulation of oncogenic C-terminal truncated p53β protein isoform expression by SRSF3-UPF1 splicing and surveillance axis. [PDF]

Cell Biosci
Jeong J, Hong D, Park TY, Hur J, Koo T, Jeong S.   +5 more
europepmc   +1 more source

Scaled Multidimensional Assays of Variant Effect Identify Sequence-Function Relationships in Hypertrophic Cardiomyopathy. [PDF]

Circulation
Yamamoto Y, Chua K, Staudt D, Ferrasse A, Kirillova A, De Jong HN, Floyd BJ, Cadisch C, Wiel L, Wang Q, O'Neill MJ, Tabet D, Goryznski JE, Huang Y, Bai F, Wilson RH, Sharma A, Tapales A, Agrawal R, Wheeler MT, Mercola M, MacRae CA, Roden DM, Roth FP, Glazer AM, Ashley EA, Parikh VN.   +26 more
europepmc   +1 more source