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Introns

Mis-splicing drives loss of function of p53^E224D point mutation

Ian C. Lock, Nathan H. Leisenring, Warren Floyd, Eric S. Xu, Lixia Luo, Yan Ma, Erin C. Mansell, Diana M. Cardona, Chang-Lung Lee, David G. Kirsch

published 05 Mar 2025

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Enrichment of rare CFTR variants in Finnish patients with congenital chloride diarrhea

Satu Wedenoja, Jarmo Ritari, Jukka Partanen, Juha Kere, Kaija-Leena Kolho

published 24 Feb 2025

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PCK1 and SLC22A2 gene variants associated with response to metformin treatment in type 2 diabetes

Sophie St-Amour, Laurence Tessier, Janie Harnois, Catherine Allard, Alexandre Lavoie, Philippe Caron, Luigi Bouchard, Patrice Perron, Karine Tremblay

published 10 Feb 2025

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Genetic insights into the risk of hip osteoarthritis on stroke: A single-variable and multivariable Mendelian randomization

Zhengze Zhang, Yanan Lian, Yuewen He, Hao Liu, Kai Meng, Yong Wang, Wuhua Ma

published 09 Jan 2025

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The landscape of alternative splicing in granulosa cells and a potential novel role of YAP1 in PCOS

Linlin Yang, Jianhua Chen, Hui Miao, Na Li, Huilin Bi, Ruizhi Feng, Congxiu Miao

published 13 Dec 2024

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Variation in SSRs at different genomic regions and implications for the evolution and identification of Armillaria gallica

Shengnan Li, Jiao Xu, Yipu Hu, Xiaohong Ou, Qingsong Yuan, Pengfei Li, Weike Jiang, Lanping Guo, Tao Zhou

published 15 Oct 2024

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A hybrid approach of ensemble learning and grey wolf optimizer for DNA splice junction prediction

Eslam Hamouda, Mayada Tarek

published 23 Sep 2024

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Complete chloroplast genome of a montane plant Spathoglottis aurea Lindl.: Comparative analyses and phylogenetic relationships among members of tribe collabieae

Nurul Shakina Mohd Talkah, Jasim Haider Mahmod Jasim, Farah Alia Nordin, Ahmad Sofiman Othman

published 16 Sep 2024

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Taenia solium TAF6 and TAF9 bind to a downstream promoter element present in the Tstbp1 gene core promoter

Oscar Rodríguez-Lima, Ponciano García-Gutiérrez, Lucía Jiménez, Laura A. Velázquez-Villegas, Angel Zarain-Herzberg, Roberto Lazzarini, Karel Estrada, Abraham Landa

published 29 Aug 2024

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Mechanistic insights into steroid hormone-mediated regulation of the androgen receptor gene

Andrew D. Gillen, Irene Hunter, Ekkehard Ullner, Iain J. McEwan

published 01 Aug 2024

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Design and evaluation of antisense sequence length for modified mouse U7 small nuclear RNA to induce efficient pre-messenger RNA splicing modulation in vitro

Takenori Shimo, Otoya Ueda, Satoshi Yamamoto

published 09 Jul 2024

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Copy number variant detection using next-generation sequencing in EYS-associated retinitis pigmentosa

Masakazu Hiraoka, Yusaku Urakawa, Kanako Kawai, Akiko Yoshida, Junichi Hosakawa, Masaki Takazawa, Akira Inaba, Satoshi Yokota, Yasuhiko Hirami, Masayo Takahashi, Osamu Ohara, Yasuo Kurimoto, Akiko Maeda

published 24 Jun 2024

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Nematode histone H2A variant evolution reveals diverse histories of retention and loss and evidence for conserved core-like variant histone genes

Swadha Singh, Noelle Anderson, Diana Chu, Scott W. Roy

published 30 May 2024

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