Zobrazeno 1 - 10 of 1 317 pro vyhledávání: '"insertion mutation"'
1
Akademický článek
Environment-independent distribution of mutational effects emerges from microscopic epistasis.
Autor: Ardell, Sarah M.1, Martsul, Alena1, Johnson, Milo S.2,3, Kryazhimskiy, Sergey1 skryazhi@ucsd.edu
Publikováno v: Science. 10/4/2024, Vol. 386 Issue 6717, p87-92. 6p.
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2
Akademický článek
Molecular heterogeneity and treatment outcome of EGFR exon 20 insertion mutations in Chinese patients with advanced non-small cell lung cancer: insights from a large-scale real-world study.
Autor: Wu, Weirui1,2 (AUTHOR), Yu, Silin1,3 (AUTHOR), Huang, Jinsheng1 (AUTHOR), Qi, Qi1,2 (AUTHOR), Wu, Yongyi1,2 (AUTHOR), Dong, Jun1 (AUTHOR) dongjun1@sysucc.org.cn
Publikováno v: BMC Cancer. 8/14/2024, Vol. 24 Issue 1, p1-12. 12p.
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3
Akademický článek
Uncovering Deletion/Insertion Mutations in Veno-Occlusive Disease with Immunodeficiency Syndrome in An Iranian Family: A Case Report.
Autor: Mohammadi, Parastoo1, Noruzinia, Mehrdad2 Noruzinia@modares.ac.ir, Ebadi, Mostafa1, Ghoraeian, Pegah3
Publikováno v: Cell Journal (Yakhteh). Aug2024, Vol. 26 Issue 8, p515-522. 8p.
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4
Akademický článek
Targeted Therapies for EGFR Exon 20 Insertion Mutation in Non-Small-Cell Lung Cancer.
Autor: Seo, Donghyun1 (AUTHOR), Lim, Jun Hyeok2 (AUTHOR) jhl@inha.ac.kr
Publikováno v: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p5917. 12p.
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5
Akademický článek
Unmet needs in EGFR exon 20 insertion mutations in Central and Eastern Europe: reimbursement, diagnostic procedures, and treatment availability.
Autor: Hochmair, Maximilian J.1 (AUTHOR), Unk, Mojca2 (AUTHOR), Spasic, Jelena3 (AUTHOR), Cerić, Timur4 (AUTHOR), Konsoulova, Assia5 (AUTHOR), Dediu, Mircea6 (AUTHOR), Bogos, Krisztina7 (AUTHOR), Hegmane, Alinta8 (AUTHOR), Oselin, Kersti9 (AUTHOR), Stojiljkovic, Marko10 (AUTHOR), Roblek, Tina11 (AUTHOR), Jakopovic, Marko12 (AUTHOR) marko.jakopovic@kbc-zagreb.hr
Publikováno v: BMC Proceedings. 1/18/2024, Vol. 18 Issue 2, p1-7. 7p.
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6
Akademický článek
Could Targeting NPM1c+ Misfolding Be a Promising Strategy for Combating Acute Myeloid Leukemia?
Autor: Florio, Daniele1 (AUTHOR) daniele.florio@unina.it, Marasco, Daniela1 (AUTHOR) daniela.marasco@unina.it
Publikováno v: International Journal of Molecular Sciences. Jan2024, Vol. 25 Issue 2, p811. 17p.
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8
Akademický článek
A Chinese patient with Rothmund–Thomson syndrome.
Autor: Zeng, Juan1 (AUTHOR), Li, Jiayi2,3 (AUTHOR), Liu, Yuwei2,3 (AUTHOR), Liang, Rui2 (AUTHOR), Wang, Lin2 (AUTHOR), Zhou, Qing2 (AUTHOR), Sun, Jinghua2 (AUTHOR), Liu, Zhongzhen2 (AUTHOR), Wang, Wen‐Jing2 (AUTHOR) wangwenjing@genomics.cn, Zhu, Sujun1 (AUTHOR) zhusj1223@126.com
Publikováno v: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-8. 8p.
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9
Akademický článek
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
Autor: Mir, Atefeh1 (AUTHOR), Song, Yongjun2 (AUTHOR), Lee, Hane2 (AUTHOR), Montazer‐Zohouri, Mostafa3 (AUTHOR), Reisi, Marziyeh4 (AUTHOR), Tabatabaiefar, Mohammad Amin1,5,6 (AUTHOR) tabatabaiefar@med.mui.ac.ir
Publikováno v: Molecular Genetics & Genomic Medicine. Dec2023, Vol. 11 Issue 12, p1-11. 11p.
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10
Akademický článek
Amyloidogenic 60–71 deletion/ValThr insertion mutation of apolipoprotein A-I generates a new aggregation-prone segment that promotes nucleation through entropic effects.
Autor: Namba, Norihiro1 (AUTHOR), Ohgita, Takashi1 (AUTHOR), Tamagaki-Asahina, Hiroko2 (AUTHOR), Nishitsuji, Kazuchika3 (AUTHOR), Shimanouchi, Toshinori4 (AUTHOR), Sato, Takeshi2 (AUTHOR), Saito, Hiroyuki1 (AUTHOR) hsaito@mb.kyoto-phu.ac.jp
Publikováno v: Scientific Reports. 10/28/2023, Vol. 13 Issue 1, p1-13. 13p.
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