Peptide nucleic acid-immobilised paper combined with multiplex recombinase polymerase amplification for the ultrasensitive and rapid detection of rifampicin-resistant tuberculosis by Nuttapon Jirakittiwut, Panuwat Sathianpitayakul, Pitak Santanirand, Yukihiro Akeda, Tirayut Vilaivan, Panan Ratthawongjirakul

“…This study presents a novel point-of-care diagnostic tool for RR-TB detection employing a peptide nucleic acid (PNA)-paper-based sensor combined with isothermal recombinase polymerase amplification (RPA). The sensor targets mutations in codons 516, 526, and 531 of the rpoB gene, the top three common mutations associated with rifampicin-resistant strains. …”
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Codon Usage is Influenced by Compositional Constraints in Genes Associated with Dementia by Taha Alqahtani, Rekha Khandia, Nidhi Puranik, Ali M. Alqahtani, Yahia Alghazwani, Saad Ali Alshehri, Kumarappan Chidambaram, Mohammad Amjad Kamal, Mohammad Amjad Kamal, Mohammad Amjad Kamal, Mohammad Amjad Kamal

“…Nucleotide A also experienced the highest mutational force, and GC-ending codons were preferred over AT-ending codons. …”
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Development of a cell-penetrating peptide-based nanocomplex for long-term delivery of intact mitochondrial DNA into epithelial cells by Kyrie Wilson, Charles Holjencin, Hwaran Lee, Balasubramaniam Annamalai, Masaaki Ishii, Jeremy L. Gilbert, Andrew Jakymiw, Bärbel Rohrer

“…Gene therapy approaches for mitochondrial DNA (mtDNA)-associated damage/diseases have thus far been limited, and despite advancements in single gene therapy for mtDNA mutations and progress in mitochondrial transplantation, no method exists for restoring the entire mtDNA molecule in a clinically translatable manner. …”
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Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics by Javier T. Granados-Riveron, J. David Brook

“…It is a leading infant mortality factor worldwide, caused by defective cardiac development. Mutations in transcription factors, signalling and structural molecules have been shown to contribute to the genetic component of CHD. …”
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DNA Damage and Base Excision Repair in Mitochondria and Their Role in Aging by Ricardo Gredilla

“…Aging is a multifactorial phenomenon characterized by increased susceptibility to cellular loss and functional decline, where mitochondrial DNA mutations and mitochondrial DNA damage response are thought to play important roles. …”
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Mathematical modeling of cyclic treatments of chronic myeloid leukemia by Natalia L. Komarova

“…We further investigate thesituation where a degree of cross-resistance is present, such thatcertain mutations cause cells to become resistant to both drugssimultaneously.…”
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The impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer: a Chinese experience by Qian Zheng, Qian Zheng, Qian Zheng, Di Shao, Jin Shu, Jin Shu, Jin Shu, Qin Zhang, Qin Zhang, Qin Zhang, Min Huang, Dong Wang, Dong Wang, Dong Wang, Dongling Zou, Dongling Zou, Dongling Zou

“…CTNNB1 mutations were common in the POLEmut group but rare in the TP53mut group. …”
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Recurrent Focal Segmental Glomerulosclerosis: A Discrete Clinical Entity by Elena Torban, Martin Bitzan, Paul Goodyer

“…Capitalizing on recent studies in which patients have been screened for slit diaphragm gene mutations, this review focuses on the natural history and pathogenesis of R-FSGS.…”
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SARS-CoV-2 Evolution: Implications for Diagnosis, Treatment, Vaccine Effectiveness and Development by Fabrizio Angius, Silvia Puxeddu, Silvio Zaimi, Serena Canton, Sepehr Nematollahzadeh, Andrea Pibiri, Ilenia Delogu, Gualtiero Alvisi, Meng Ling Moi, Aldo Manzin

“…SARS-CoV-2 is characterized by rapidly evolving mutations, especially in (but not limited to) the spike protein, complicating predictions about its evolutionary trajectory. …”
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Borrelia burgdorferi tolerates alteration to P66 porin function in a murine infectivity model by Christa H. Fierros, Marie-Line Faucillion, Beth L. Hahn, Phillip Anderson, Mari Bonde, Julie R. Kessler, Matthew C. Surdel, Kyler S. Crawford, Yan Gao, Jieqing Zhu, Jieqing Zhu, Sven Bergström, Jenifer Coburn, Jenifer Coburn

“…Interestingly, four isolates that were recovered for p66 sequencing from mouse tissues revealed novel secondary point mutations in genomic p66. However, these secondary mutations did not rescue P66 porin function. …”
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Genetic Risk Prediction for Normal-Karyotype Acute Myeloid Leukemia Using Whole-Exome Sequencing by Seong Gu Heo, Eun Pyo Hong, Ji Wan Park

“…We searched for somatic mutations from 10 pairs of tumor and normal cells by using a highly efficient and reliable analysis workflow for whole-exome sequencing data and performed association tests between the NK-AML and somatic mutations. …”
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Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study by Giulia Magnani, Daniela Furlan, Nora Sahnane, Luca Reggiani Bonetti, Federica Domati, Monica Pedroni

“…Detection of germline mutations was performed in Mismatch Repair, APC and MUTYH genes. …”
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Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005–2015): New Studies and a Literature Rev... by Jing Wu, Wei-Fan Wang, Yi-Dan Zhang, Tong-Xin Chen

“…X-linked CGD due to CYBB gene mutations accounted for 75% of the cases, and 11 of them were novel mutations. …”
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Differential Expression of -Associated Genes in Autosomal Dominant Polycystic Kidney Disease by Yeon Joo Yook, Yu Mi Woo, Moon Hee Yang, Je Yeong Ko, Bo Hye Kim, Eun Ji Lee, Eun Sun Chang, Min Joo Lee, Sunyoung Lee, Jong Hoon Park

“…The proteins encoded by the PKD1 and PKD2 genes, mutations in which account for nearly all cases of ADPKD, may help guard against cystogenesis. …”
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The necessity of cell banks by A. G. Menzorov, O. L. Serov

“…In addition, a recently developed technology of directed genome modification, CRISPR/Cas, allows correction of genetic mutations in iPSCs. Thus, genetic mutations could be corrected in vitro, and after differentiation into a desired cell type, these cells could be transplanted to a patient. …”
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In silico study about β-amyloid’s role in Alzheimer’s disease and glaucoma and prediction of its interactions with glaucoma related proteins by Nancy Maurya

“…The binding between β-amyloid and mutated optineurin is higher in comparison to that between β-amyloid and wild-type optineurin. …”
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Rab7 Investigation Insights into the Existence of White Spot Syndrome Virus in Crustaceans: An In Silico Approach by Mehedi Mahmudul Hasan, M. Nazmul Hoque, Md Robiul Hasan, Mohammad Asaduzzaman, Farha Matin Juliana

“…Among 100 isolates of Rab7 from organisms of various phyla, mutations were observed in several positions. These mutations caused variations in hydrophobicity and isoelectric point which impact the ligand-protein binding affinity. …”
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Intratumor heterogeneity: models of malignancy emergence and evolution by R. A. Ivanov, S. A. Lashin

“…These techniques enable the identification of somatic mutations, copy number alterations, and structural rearrangements within cancer genomes. …”
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Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber’s hereditary optic neuropathy (LHON) by Aswathy P. Nair, Ambika Selvakumar, Janani Gopalarethinam, B. Abishek Kumar, Balachandar Vellingiri, Mohana Devi Subramaniam

“…One of the most common locations for deadly pathogenic mutations in humans is the human complex I accessory NDUFS4 subunit gene. …”
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Drug repurposing screen for the rare disease ataxia-telangiectasia by Namrata Jayanth, Gurvan Mahé, Matthew Campbell, Mike Lipkin, Shushant Jain, Rhea van de Bospoort, Jennifer Thornton, Brad Margus, David F. Fischer

“…It is caused by bi-allelic mutations impacting a gene encoding a serine/threonine kinase ATM (Ataxia Telangiectasia Mutated), which plays a crucial role in DNA repair and maintenance of genomic stability. …”
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