8 Result(s)

Article

Successful skip** of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration

Pathogenic variants in WDR45 on chromosome Xp11 cause neurodegenerative disorder beta-propeller protein-associated neurodegeneration (BPAN). Currently, there is no effective therapy for BPAN. Here we report a 17-...

Mamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, Ryo Kurosawa… in Scientific Reports (2024)

Article

The Impact of FGFR3 Alterations on the Tumor Microenvironment and the Efficacy of Immune Checkpoint Inhibitors in Bladder Cancer

Currently, only limited knowledge is available regarding the phenotypic association between fibroblast growth factor receptor 3 (FGFR3) alterations and the tumor microenvironment (TME) in bladder cancer (BLCA).

Kazumasa Komura, Kensuke Hirosuna, Satoshi Tokushige, Takuya Tsu**o… in Molecular Cancer (2023)

Article

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

Deep-intronic variants that alter RNA splicing were ineffectively evaluated in the search for the cause of genetic diseases. Determination of such pathogenic variants from a vast number of deep-intronic varian...

Ryo Kurosawa, Kei Iida, Masahiko Ajiro, Tomonari Awaya, Mamiko Yamada… in BMC Genomics (2023)

Article

Application of the CDK9 inhibitor FIT-039 for the treatment of KSHV-associated malignancy

Chronic infection with Kaposi’s sarcoma-associated herpes virus (KSHV) in B lymphocytes causes primary effusion lymphoma (PEL), the most aggressive form of KSHV-related cancer, which is resistant to convention...

Tetsunori Sakamoto, Masahiko Ajiro, Akira Watanabe, Shingo Matsushima… in BMC Cancer (2023)

Article

Author Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

Masahiko Ajiro, Tomonari Awaya, Young ** Kim, Kei Iida… in Nature Communications (2021)

Article

Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia

Approximately half of genetic disease-associated mutations cause aberrant splicing. However, a widely applicable therapeutic strategy to splicing diseases is yet to be developed. Here, we analyze the mechanism...

Masahiko Ajiro, Tomonari Awaya, Young ** Kim, Kei Iida… in Nature Communications (2021)

Article

CDC2-like (CLK) protein kinase inhibition as a novel targeted therapeutic strategy in prostate cancer

Dysregulation of alternative splicing is a feature of cancer, both in aetiology and progression. It occurs because of mutations in splice sites or sites that regulate splicing, or because of the altered expres...

Simon Uzor, Sean R. Porazinski, Ling Li, Bethany Clark… in Scientific Reports (2021)

Article

Vemurafenib-resistant BRAF selects alternative branch points different from its wild-type BRAF in intron 8 for RNA splicing

One mechanism of resistance of the melanoma-associated BRAF kinase to its small molecule inhibitor vemurafenib is by point mutations in its intron 8 resulting in exons 4–8 skip**. In this report, we carried ...

Masahiko Ajiro, Zhi-Ming Zheng in Cell & Bioscience (2015)