RNA splicing alterations in lung cancer pathogenesis and therapy by Yueren Yan, Yunpeng Ren, Yufang Bao, Yongbo Wang

Subjects: Get full text

First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy by Zhiying Xie, Chengyue Sun, Chang Liu, Xujun Chu, Qiang Gang, Meng Yu, Yiming Zheng, Lingchao Meng, Fan Li, Dongliang Xia, Li Wang, Ying Li, Jianwen Deng, He Lv, Zhaoxia Wang, Wei Zhang, Yun Yuan

Subjects: Get full text

CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients by Claudia Provenzano, Marisa Cappella, Rea Valaperta, Rosanna Cardani, Giovanni Meola, Fabio Martelli, Beatrice Cardinali, Germana Falcone

Subjects: Get full text

Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta by Yen-An Tang, Yen-An Tang, Lin-Yen Wang, Lin-Yen Wang, Lin-Yen Wang, Chiao-May Chang, I-Wen Lee, Wen-Hui Tsai, Wen-Hui Tsai, H. Sunny Sun, H. Sunny Sun

Subjects: Get full text

A c.726C>G (p.Tyr242Ter) nonsense mutation-associated with splicing alteration (NASA) of WDR45 gene underlies β-propeller protein-associated neurodegeneration (BPAN) by Qiongling Peng, Ying Cui, Jin Wu, Lianying Wu, Jiajia Liu, Yangyun Han, Guanting Lu

Subjects: “…Nonsense-associated splicing alteration…”
Get full text