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Point mutation

Mutation accumulation in H. sapiens F508del CFTR countermands dN/dS type genomic analysis

Jeong S. Hong, Janice M. Tindall, Samuel R. Tindall, Eric J. Sorscher

published 18 Jul 2024

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Impact of mutations in the mtrR, rpdlVD and rrl genes on azithromycin resistance in Neisseria gonorrhoeae

Florian Mauffrey, Fabrice Poncet, Damien Jacot, Gilbert Greub, Patrice Nordmann, Dominique S. Blanc

published 16 Jul 2024

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Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins

Pedro Garrido-Rodríguez, Miguel Carmena-Bargueño, María Eugenia de la Morena-Barrio, Carlos Bravo-Pérez, Belén de la Morena-Barrio, Rosa Cifuentes-Riquelme, María Luisa Lozano, Horacio Pérez-Sánchez, Javier Corral

published 05 Jul 2024

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Afatinib or Bevacizumab in combination with Osimertinib efficiently control tumor development in orthotopic murine models of non-small lung cancer

Ulrich Jarry, Megane Bostoen, Jérome Archambeau, Raphaël Pineau, Laura Chaillot, Florence Jouan, Hélène Solhi, Hugo Ferrari, Rémy Le Guevel, Valentine Mennessier, Hervé Lena, Romain Corre, Charles Ricordel, Thierry Guillaudeux, Rémy Pedeux

published 27 Jun 2024

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Critical domains for NACC2-NTRK2 fusion protein activation

Wei Yang, April N. Meyer, Zian Jiang, Xuan Jiang, Daniel J. Donoghue

published 27 Jun 2024

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Analysis of molecular subtypes and antibiotic resistance in Treponema pallidum isolates from blood donors in Khyber Pakhtunkhwa, Pakistan

Iqbal Muhammad, Eman H. Khalifa, Magdi M. Salih, Waheed Ullah, Manal S. A. Elseid, Muhammad Qasim, Sajid Ali, Nadeem Ullah, Noor Muhammad

published 21 Jun 2024

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Identification and development of Tetra-ARMS PCR-based screening test for a genetic variant of OLA1 (Tyr254Cys) in the human failing heart

Praveen K. Dubey, Shubham Dubey, Sarojini Singh, Purnima Devaki Bhat, Steven Pogwizd, Prasanna Krishnamurthy

published 18 Jun 2024

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Understanding the biosynthesis of human IgM SAM-6 through a combinatorial expression of mutant subunits that affect product assembly and secretion

Haruki Hasegawa, Songyu Wang, Eddie Kast, Hui-Ting Chou, Mehma Kaur, Tanakorn Janlaor, Mina Mostafavi, Yi-Ling Wang, Peng Li

published 07 Jun 2024

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Clinicopathological and prognostic implications of EGFR mutations subtypes in Moroccan non-small cell lung cancer patients: A first report

Sara Boukansa, Ismail Mouhrach, Fatima El Agy, Sanae El Bardai, Laila Bouguenouch, Mounia Serraj, Bouchra Amara, Yassine Ouadnouni, Mohamed Smahi, Badreeddine Alami, Nawfel Mellas, Zineb Benbrahim, Hinde El Fatemi

published 05 Jun 2024

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Relationships between genomic dissipation and de novo SNP evolution

Zackery E. Plyler, Christopher W. McAtee, Aubrey E. Hill, Michael R. Crowley, Janice M. Tindall, Samuel R. Tindall, Disha Joshi, Eric J. Sorscher

published 16 May 2024

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The association of EGFR amplification with aberrant exon 20 insertion report using the cobas EGFR Mutation Test v2

Man-San Zhang, Yi-Chen Yeh, Hsien-Neng Huang, Long-Wei Lin, Yen-Lin Huang, Lei-Chi Wang, Lai-Jin Yao, Tze-Chun Hung, Yu-Fen Tseng, Yi-Hsuan Lee, Wei-Yu Liao, Jin-Yuan Shih, Min-Shu Hsieh

published 30 Apr 2024

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p53 dosage can impede Kras^G12D- and Kras^Q61R-mediated tumorigenesis

Özgün Le Roux, Jeffery I. Everitt, Christopher M. Counter

published 28 Mar 2024

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Clinical validation of RCSMS: A rapid and sensitive CRISPR-Cas12a test for the molecular detection of SARS-CoV-2 from saliva

Joaquín Abugattas-Núñez del Prado, Angélica Quintana Reyes, Julio Leon, Juan Blume La Torre, Renzo Gutiérrez Loli, Alejandro Pinzón Olejua, Elena Rocío Chamorro Chirinos, Félix Antonio Loza Mauricio, Jorge L. Maguiña, Piere Rodriguez-Aliaga, Edward Málaga-Trillo

published 25 Mar 2024

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