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Mutation

A single PCR-sequencing method to establish the frequency of kdr alleles in the stable fly, Stomoxys calcitrans: application to seven livestock farms from south of France

Mariana Ribeiro Sato, Géraldine Bossard, Guilhem Sempere, Philippe Jacquiet, Christelle Grisez, Geoffrey Gimonneau, Marc Desquesnes

published 16 Sep 2025

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Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant

Cristina Pastorino, Ludovica Menta, Emanuela Pesce, Mariateresa Lena, Valeria Tomati, Valeria Capurro, Marco Di Duca, Vito Terlizzi, Andrea Gramegna, Francesco Blasi, Carlo Castellani, Serena Cappato, Federico Zara, Nicoletta Pedemonte, Renata Bocciardi

published 16 Sep 2025

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Genotype-phenotype correlations of germline mutations in exon 10 of the RET proto-oncogene from 14 MEN2A families of Ethnic Han Chinese

Feng Li, Weiying Chen, Zhenyu Chen, Bijun Lian, Xudong Fang, Hangyang Jin, Huihong Wang, Jianqiang Zhao, Yiming Zhang, Xiaoping Qi

published 11 Sep 2025

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AHL-based QS signalling promotes uropathogenic Escherichia coli settlement through the de-repression of biofilm formation by SdiA

Celia Mayer, Fadi Soukarieh, Manuel Simões, Saskia-Camille Flament-Simon, Miguel Cámara, Manuel Romero

published 09 Sep 2025

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Interferon-gamma 1b-induced gene expression alters neutrophil function in patients with chronic granulomatous disease

Daniel R. Ambruso, Natalie J. Briones, Alexander D. Tran, Bridget Sanford, Christine Childs, Ben Z. Katz, Michael Ellison, Richard B. Johnston, Kenneth L. Jones

published 08 Sep 2025

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18 individual genes underwent variant screening in a northwest Chinese group comprised 83 probands diagnosed with early-onset high myopia

Yang Liu, Shao-Chi Zhang, Wen Zhang, Zhong-Qi Xue, Yi-Xuan Qin, Shun-Yu Piao, Wen-Jing Li, Meng-Li Ji, Wen-Juan Zhuang

published 08 Sep 2025

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The role of cyclic di-GMP in biomaterial-associated infections caused by commensal Escherichia coli

Shanshan Li, Chengwei Bi, Bingquan Xiang, Zhonghui Wang, Hui Yang, Chaojiang Fu, Lianpu Chen, Ying Chen

published 20 Aug 2025

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Ribitol treatment rescues dystroglycanopathy mice with common L276I mutation

Bo Wu, Pei Juan Lu, Morgan Drains, Sapana Shah, Anthony Blaeser, Victoria Leroy, Jessalyn Killilee, Molly Holbrook, Qi Long Lu

published 20 Aug 2025

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Superoxide dismutase VPA1514 in Vibrio parahaemolyticus protects against environmental stresses

Paula Hsu, Hin-chung Wong, Chung-Tao Tang

published 14 Aug 2025

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Passage of human-origin influenza A virus in swine tracheal epithelial cells selects for adaptive mutations in the hemagglutinin gene

Jongsuk Mo, Lucas M. Ferreri, Ginger Geiger, Daniel R. Perez, Daniela S. Rajao

published 13 Aug 2025

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CRISPR-Cas9 targeting the bla_KPC gene in a clinical isolate of Klebsiella michiganensis: Reduction of imipenem resistance and changes in genomic carbapenem resistance determinants

Thaysa Leite Tagliaferri, Alex Krüttgen, Tiago Antônio de Oliveira Mendes, Simone Gonçalves dos Santos, Hans-Peter Horz

published 12 Aug 2025

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Evaluation of therapeutic agent selection based on comprehensive genomic profiling in gastroenteropancreatic neuroendocrine neoplasms

Suguru Miyazawa, Hiroaki Ono, Hironari Yamashita, Daisuke Asano, Yoshiya Ishikawa, Shuichi Watanabe, Hiroki Ueda, Satoru Aoyama, Naoya Ishibashi, Keiichi Akahoshi, Sadakatsu Ikeda, Minoru Tanabe

published 06 Aug 2025

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Prevalence of HIV drug resistance, its correlates and common mutations among people living with HIV failing on ART in northern Uganda: A cross-sectional study

Francis Kayinda, Phyllis Awor, Twaha Mahaba, Alex M. Muganzi, Joanita Kigozi, Patrick Odong Olwedo, Esther M. Nasuuna, Robert Mutumba, Rhoda Wanyenze

published 05 Aug 2025

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