Results 121 to 130 of about 4,405 (166)

Coordinated alternative splicing decisions via stepwise exon definition. [PDF]

Nucleic Acids Res
Kristofori P, Xiao Z, Braun S, Busch A, Zarnack K, König J, Legewie S, Li C.   +7 more
europepmc   +1 more source

Identification and functional analysis of a novel <i>TRAPPC2</i> intronic variant in a four-generation Chinese pedigree with SEDT. [PDF]

Front Genet
Lyu Y, Xu W, Xu B, Tang X, Xiao M, Lan X, Yang Y, Song X, Wu S.   +8 more
europepmc   +1 more source

Identification of the novel c.149-8C>G splicing variant in RHCE*02 that weakens C antigen expression. [PDF]

Transfusion
Tournamille C, Fichou Y, Benech C, Braga GN, Devaux L, Flahaut R, Floch A.   +6 more
europepmc   +1 more source

Targeting SRSF6 to Enhance Cisplatin Sensitivity by Modulating Redox Balance via NFE2L1 exon 4 Splicing in ESCC. [PDF]

Int J Biol Sci
He X, Xu J, Duan L, Ma J, Gao D, Xie Y, Zhao D, Liu J, Zhao J, Liu F, Lee MH, Kim MO, Dong Z, Jiang Y, Liu K.   +14 more
europepmc   +1 more source

RNA-based discovery and correction of splicing defects caused by <i>POLR3A</i> missense mutations. [PDF]

Mol Ther Nucleic Acids
Shkreta L, Delannoy A, Toutant J, McSwiggen J, Chabot B.   +4 more
europepmc   +1 more source

Identification and functional characterization of a novel pathogenic <i>COL1A1</i> splicing variant in a Chinese family with osteogenesis imperfecta. [PDF]

Front Genet
Nie H, Chen Y, Qin P, Xie G, Zhang D, Sun Y, Mo Y.   +6 more
europepmc   +1 more source

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

Correction of the molecular phenotype of X-linked Dystonia-Parkinsonism reveals a non-canonical function of BRD4. [PDF]

Nat Commun
Capponi S, Ehret S, Camgöz Z, Gather F, Vaine CA, Özyerli-Göknar E, Follo M, Bragg DC, Vogel T, Timmers HTM.   +9 more
europepmc   +1 more source

Novel Compound Heterozygous Variants in <i>CDH3</i> Cause Congenital Hypotrichosis with Juvenile Macular Dystrophy: A Case Report with Longitudinal Imaging and Functional Validation. [PDF]

Case Rep Ophthalmol
Lin Y, Yu P, Cui S, Xiong S, Zhou Y, Chen Y, Lin J.   +6 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