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1. 先天性赤血球増多症および真性多血症の分子学的病因molecular pathogenesis of congenital polycythemic disorders and polycythemia vera [show details]
…include Croatian polycythemia due to VHL H191Dmutation , VHL exon 2 mutation VHL P138L , alternative splicing with exon 2 skipping , and other compound VHL gene heterozygous germline mutations VHL …
2. デュシェンヌ型およびベッカー型筋ジストロフィー：遺伝学的特徴および発症機序duchenne and becker muscular dystrophy genetics and pathogenesis [show details]
… (ESEs) and induce exon skipping with variable results on the phenotype . For example, a nonsense mutation within exon 27 disrupts an ESE sequence and induces partial skipping of the exon, which results in …
3. デュシェンヌ型・ベッカー型筋ジストロフィー：糖質コルチコイドまたは疾患修飾薬による治療duchenne and becker muscular dystrophy glucocorticoid and disease modifying treatment [show details]
…investigational approach involves injection of antisense oligonucleotides that induce specific exon skipping during messenger RNA splicing, thereby correcting the open reading frame of the DMD gene and restoring …
4. 進行非小細胞肺癌に対する遺伝子型による個別治療personalized genotype directed therapy for advanced non small cell lung cancer [show details]
…EGFR inhibitors) . Exon 14 skipping mutations are most commonly found by NGS, while MET amplification may be detected by FISH or some NGS panels . For patients with a MET exon 14 skipping mutation or MET …
5. ホスホフルクトキナーゼ欠損症（糖原病VII型、垂井病）phosphofructokinase deficiency glycogen storage disease vii tarui disease [show details]
…is present in the majority of Ashkenazi-Jewish patients that alters a splice site, leading to exon skipping . This splice-site mutation and another single nucleotide deletion account for approximately 95…