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Nonsense mutation

Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia

Ya-nan Hu, Min Wu, Hong-ping Yu, Qiu-yan Wu, Ying Chen, Jian-Hui Zhang, Dan-dan Ruan, Yan-ping Zhang, Jing Zou, Li Zhang, Xin-fu Lin, Zhu-ting Fang, Li-Sheng Liao, Fan Lin, Hong Li, Jie-Wei Luo

published 11 Oct 2024

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Comparative genomic landscape of lower-grade glioma and glioblastoma

Xinxin Sun, Qingbin Jia, Kun Li, Conghui Tian, Lili Yi, Lili Yan, Juan Zheng, Xiaodong Jia, Mingliang Gu

published 29 Aug 2024

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Avirulence of a spontaneous Francisella tularensis subsp. mediasiatica prmA mutant

Vitalii Timofeev, Irina Bakhteeva, Galina Titareva, Raisa Mironova, Vera Evseeva, Tatiana Kravchenko, Angelika Sizova, Alexander Borzilov, Natalia Pavlovich, Alexander Mokrievich, Ivan Dyatlov, Gilles Vergnaud

published 18 Jun 2024

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ADAMTSL2 is a potential prognostic biomarker and immunotherapeutic target for colorectal cancer: Bioinformatic analysis and experimental verification

Zhe Huang, Xu Hu, Yiqiu Wei, Yousheng Lai, Jiaming Qi, Jinglin Pang, Kang Huang, Huagui Li, Pengzhu Cai

published 30 May 2024

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Genetic profiling of rat gliomas and cardiac schwannomas from life-time radiofrequency radiation exposure study using a targeted next-generation sequencing gene panel

Ashley M. Brooks, Andrea Vornoli, Ramesh C. Kovi, Thai Vu T. Ton, Miaofei Xu, Ahmed Mashal, Eva Tibaldi, Federica Gnudi, Jian-Liang Li, Robert C. Sills, John R. Bucher, Daniele Mandrioli, Fiorella Belpoggi, Arun R. Pandiri

published 17 Jan 2024

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Comprehensive somatic mutational analysis in glioblastoma: Implications for precision medicine approaches

Parisa Azimi, Mina Karimpour, Taravat Yazdanian, Mehdi Totonchi, Abolhassan Ahmadiani

published 02 Jan 2024

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Pharmacological induction of translational readthrough of nonsense mutations in the retinoblastoma (RB1) gene

Mireia Palomar-Siles, Viktor Yurevych, Vladimir J. N. Bykov, Klas G. Wiman

published 02 Nov 2023

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Rational therapeutic targets with biomolecular liquid-liquid phase separation regulating synergy: A pan-cancer analysis

Si Sun, Wenwen Wang, Guoqing Li, Man Xiao, Minggang Peng, Jing Cai, Zehua Wang, Qiang Yang, Xiaoqi He

published 02 Nov 2023

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Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing

Agung Triono, Kristy Iskandar, Marissa Leviani Hadiyanto, Andika Priamas Nugrahanto, Kania Diantika, Veronica Wulan Wijayanti, Elisabeth Siti Herini

published 25 Oct 2023

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Newly discovered genomic mutation patterns in radiation-induced small intestinal tumors of Apc^Min/+ mice

Daisuke Iizuka, Megumi Sasatani, Atsuko Ishikawa, Kazuhiro Daino, Tokuhisa Hirouchi, Kenji Kamiya

published 12 Oct 2023

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Monkeypox genome mutation analysis using a timeseries model based on long short-term memory

Refat Khan Pathan, Mohammad Amaz Uddin, Ananda Mohan Paul, Md. Imtiaz Uddin, Zuhal Y. Hamd, Hanan Aljuaid, Mayeen Uddin Khandaker

published 23 Aug 2023

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Novel anti-PTEN C2 domain monoclonal antibodies to analyse the expression and function of PTEN isoform variants

Leire Torices, Caroline E. Nunes-Xavier, José I. López, Rafael Pulido

published 01 Aug 2023

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A Bayesian approach to estimate the probability of resistance to bedaquiline in the presence of a genomic variant

Degefaye Zelalem Anlay, Emmanuel Rivière, Pham Hien Trang Tu, Steven Abrams, Annelies Van Rie

published 14 Jun 2023

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