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Point mutation

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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A novel method for the isolation of single cells mimicking circulating tumour cells adhered on Smart Bio Surface slides by Laser Capture Microdissection

Grazia Visci, Doron Tolomeo, Angelo Lonoce, Aram Arshadi, Lorenzo Bascetta, Gianluca Trotta, Margot van Riel, Joris Robert Vermeesch, Roberta Carbone, Clelia Tiziana Storlazzi

published 08 Mar 2024

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Detection of driver mutations and genomic signatures in endometrial cancers using artificial intelligence algorithms

Anda Stan, Korey Bosart, Mehak Kaur, Martin Vo, Wilber Escorcia, Ryan J. Yoder, Renee A. Bouley, Ruben C. Petreaca

published 26 Feb 2024

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Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene

Sana Waheed, Kainat Ramzan, Sibtain Ahmad, Muhammad Saleem Khan, Muhammad Wajid, Hayat Ullah, Ali Umar, Rashid Iqbal, Riaz Ullah, Ahmed Bari

published 23 Feb 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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A non-canonical Puf3p-binding sequence regulates CAT5/COQ7 mRNA under both fermentable and respiratory conditions in budding yeast

Sachiko Hayashi, Kazumi Iwamoto, Tohru Yoshihisa

published 15 Dec 2023

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