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1. 遺伝学およびゲノミクスのためのツール：研究用に育種された遺伝子改変マウスtools for genetics and genomics specially bred and genetically engineered mice [show details]
… find the desired mutants. Consequently, the mutagenesis strategy relies on generating viable mutants at high frequency, using robust methods to screen mutants,… Collaborative projects in North America and in Europe have developed conditional knockout alleles for thousands of genes .…
2. IDH変異と1p／19q共欠損のある乏突起神経膠腫の臨床的特徴、診断、病理clinical features diagnosis and pathology of idh mutant 1p 19q codeleted oligodendrogliomas [show details]
…ability to detect 2-hydroxyglutarate (2HG), the byproduct of mutant IDH1 or IDH2, in a certain percentage of oligodendrogliomas and other IDH1/2-mutant gliomas. This may prove useful diagnostically and as a …
3. IDH変異と1p／19q欠失を伴う（グレードIIおよびIIIの）乏突起膠腫の治療と予後treatment and prognosis of idh mutant 1p 19q codeleted grade ii and iii oligodendrogliomas [show details]
…months. Small molecule inhibitors of mutant IDH1 and IDH2 are in clinical trials for IDH-mutant gliomas. Vaccine strategies are also being explored. Ivosidenib, a mutant-IDH1 inhibitor approved in the United …
4. ハンチントン病：遺伝学と病因huntington disease genetics and pathogenesis [show details]
…HD inherit the mutant HD gene from their father . Expansion of CAG repeats is thought to cause toxicity through a "gain-of-function" mechanism (ie, disease develops because the mutant form of the protein …
5. 神経学の最新情報whats new in neurology [show details]
…IDH-mutant gliomas. Ivosidenib, a small molecular mutant-IDH1 inhibitor, was well tolerated with no dose-limiting toxicities in a phase I trial that included 66 patients with advanced IDH1-mutant astrocytoma …