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Point mutation

Decoding Myosin-3 mutational hotspots: Linking deleterious variants to Duchenne muscular dystrophy severity and psychiatric comorbidities

Mohammed Ageeli Hakami, Ahad Amer Alsaiari, Taj Mohammad, Anas Shamsi

published 15 Jul 2025

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Next-Generation Sequencing (NGS) in non-small cell lung carcinoma: A real-world experience in the public health system of Galicia (Northwest Spain)

Ihab Abdulkader-Nallib, José Manuel Cameselle-Teijeiro, Iván Lesende-Rodríguez, Raquel Pérez-Becerra, José Ramón Antúnez-López, Jorge García-González, Luis León-Mateos, María Sánchez-Ares

published 01 Jul 2025

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Development of a novel and viable knock-in factor V deficiency murine model: Utility for an ultra-rare disease

Juan A. De Pablo-Moreno, Leopoldo González-Brusi, Andrea Miguel-Batuecas, Pablo Bermejo-Álvarez, Luis Revuelta, Antonio Liras

published 02 Jun 2025

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Mechanisms of fluoroquinolone resistance among Escherichia coli isolates from urinary tract infections in Thailand

Nipaporn Tewawong, Siriporn Kowaboot, Warangkana Lektrakul, Utsanee Supcharoengoon, Naiyana Watanagul, Pannamthip Pitaksajjakul

published 30 May 2025

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Genomic insights into the role of Salmonella Typhi carriers in antimicrobial resistance and typhoid transmission in Urban Kenya

Susan M. Kavai, Winnie C. Mutai, Cecilia Mbae, Kelvin Kering, Ronald Ng’etich, Peter Muturi, Collins Kigen, Mike Mugo, Diana Imoli, Celestine Wairimu, Samuel Kariuki

published 28 May 2025

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Genotypic analysis of drug-resistant tuberculosis in Ghana: Insights into pre-XDR and XDR-TB

Stephen Ofori Yirenkyi, Osmanu Taufik, Roger Laryea, Amanquador Acquah-Keelson, Japheth Awuletey Opintan, Gloria Ivy Mensah

published 20 May 2025

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Clinicohematological and molecular analysis of hemoglobin D syndrome and unknown variants in the hemoglobinopathy spectrum of Sindh, Pakistan

Sunila Tashfeen, Ikram Din Ujjan, Hina Shaikh, Muhammad Arif Sadiq, Feriha Fatima Khidri, Ali Raza Rajput, Ali Muhammad Waryah

published 15 May 2025

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Correlation of p53 oligomeric status and its subcellular localization in the presence of the AML-associated NPM mutant

Aleš Holoubek, Dita Strachotová, Kateřina Wolfová, Petra Otevřelova, Sára Belejová, Pavla Röselová, Aleš Benda, Barbora Brodská, Petr Herman

published 07 May 2025

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The impact of mutations on TP53 protein and MicroRNA expression in HNSCC: Novel insights for diagnostic and therapeutic strategies

Ashraf Attia Mahmoud, Mohd Firdaus Raih, Edison Eukun Sage, Qurashi M. Ali, Omnia H. Suliman, Sabah A. E. Ibrahim, Osama Mohamed, Samar Abdelrazeg, Sofia B. Mohamed

published 07 May 2025

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CRISPR genome editing using a combined positive and negative selection system

Ishrya Sharma, Kerisa Hall, Shannon Moonah

published 06 May 2025

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Epidemiological and spatial analysis of newly diagnosed HIV-1/AIDS patients before antiretroviral therapy in Ningxia from 2020 to 2021

Yichang Liu, Xiaofa Ma, Jianxin Pei, Dongzhi Yang, Yufeng Li, Xiaohong Zhu, Zhonglan Wu

published 22 Apr 2025

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Gama rays mediated improvement of catalytic efficiency and thermostability of glucoamylase by replacing active site leucine to isoleucene from super koji (Aspergillus oryzae)

Anam Saqib, Saif -ur-Rehman, Hazrat Ali, Noor Hassan, Asad Ali, Muhammad Hamid Rashid

published 18 Apr 2025

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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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