Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
M Yamada, K Maeta, H Suzuki, R Kurosawa… - Scientific reports, 2024 - nature.com
Pathogenic variants in WDR45 on chromosome Xp11 cause neurodegenerative disorder
beta-propeller protein-associated neurodegeneration (BPAN). Currently, there is no effective …
beta-propeller protein-associated neurodegeneration (BPAN). Currently, there is no effective …
Computational prediction of human deep intronic variation
P Barbosa, R Savisaar, M Carmo-Fonseca… - …, 2023 - academic.oup.com
Background The adoption of whole-genome sequencing in genetic screens has facilitated
the detection of genetic variation in the intronic regions of genes, far from annotated splice …
the detection of genetic variation in the intronic regions of genes, far from annotated splice …
Identification and analysis of short indels inducing exon extension/shrinkage events
Z Qu, N Sakaguchi, C Kikutake, M Suyama - FEBS Open Bio - Wiley Online Library
The search for genetic variants that act as causative factors in human diseases by disrupting
the normal splicing process has primarily focused on single nucleotide variants (SNVs). It is …
the normal splicing process has primarily focused on single nucleotide variants (SNVs). It is …