Site Saturation Mutagenesis Applications on Candida methylica Formate Dehydrogenase by Gülşah P. Özgün, Emel B. Ordu, H. Esra Tütüncü, Emrah Yelboğa, Richard B. Sessions, Nevin Gül Karagüler

“…The thermodynamic and kinetic results suggest that 8 mutations on the first residue can be tolerated. Among all mutants, M1L has the best residual activity after incubation at 60°C with 17%. …”
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ClaPEPCK4: target gene for breeding innovative watermelon germplasm with low malic acid and high sweetness by Congji Yang, Jiale Shi, Yuanyuan Qin, ShengQi Hua, Jiancheng Bao, Xueyan Liu, Yuqi Peng, Yige Gu, Wei Dong

“…In the knockout transgenic watermelon plants, two SNP mutations and one base deletion occurred in the ClaPEPCK4 gene, with the malic acid content in the leaves increasing considerably and the PEPCK enzyme activity reduced to half of the wild-type. …”
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A novel isothermal whole genome sequencing approach for Monkeypox Virus by Matthias Licheri, Manon Flore Licheri, Lukas Probst, Cora Sägesser, Pascal Bittel, Franziska Suter-Riniker, Ronald Dijkman

“…The latter allows multiplexing due to the efficient enrichment of the viral DNA, however, mutations or the presence of different clades can negatively influence genome coverage yield. …”
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Loss of Myh14 Increases Susceptibility to Noise-Induced Hearing Loss in CBA/CaJ Mice by Xiaolong Fu, Linqing Zhang, Yecheng Jin, Xiaoyang Sun, Aizhen Zhang, Zongzhuang Wen, Yichen Zhou, Ming Xia, Jiangang Gao

“…MYH14 is a member of the myosin family, which has been implicated in many motile processes such as ion-channel gating, organelle translocation, and the cytoskeleton rearrangement. Mutations in MYH14 lead to a DFNA4-type hearing impairment. …”
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Clade 2.3.4.4b but not historical clade 1 HA replicating RNA vaccine protects against bovine H5N1 challenge in mice by David W. Hawman, Thomas Tipih, Eddie Hodge, E. Taylor Stone, Nikole Warner, Natalie McCarthy, Brian Granger, Kimberly Meade-White, Shanna Leventhal, Kiara Hatzakis, Stephanie Park, Karen Gaffney, Kyle Rosenke, Jesse H. Erasmus, Heinz Feldmann

“…Although the United States has stockpiled and is prepared to produce millions of vaccine doses to address an H5N1 pandemic, currently circulating H5N1 viruses contain multiple mutations within the immunodominant head domain of hemagglutinin (HA) compared to the antigens used in stockpiled vaccines. …”
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Expanding the miRNA Transcriptome of Human Kidney and Renal Cell Carcinoma by Adam P. Sage, Brenda C. Minatel, Erin A. Marshall, Victor D. Martinez, Greg L. Stewart, Katey S. S. Enfield, Wan L. Lam

“…Despite advancements in therapeutic strategies, diagnostic and prognostic molecular markers of kidney cancer remain scarce, particularly in patients who do not harbour well-defined driver mutations. Recent evidence suggests that a large proportion of the human noncoding transcriptome has escaped detection in early genomic explorations. …”
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A Biopsychosocial Overview of Speech Disorders: Neuroanatomical, Genetic, and Environmental Insights by Diya Jaishankar, Tanvi Raghuram, Bhuvanesh Kumar Raju, Divyanka Swarna, Shriya Parekh, Narendra Chirmule, Vikramsingh Gujar

“…Genetic studies have identified key genes involved in neural migration and synaptic connectivity, further elucidating the role of genetic mutations in speech disorders, such as stuttering and speech sound disorders. …”
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Biochemical and structural characterization of Rab3GAP reveals insights into Rab18 nucleotide exchange activity by Gage M. J. Fairlie, Kha M. Nguyen, Sung-Eun Nam, Alexandria L. Shaw, Matthew A. H. Parson, Hannah R. Shariati, Xinyin Wang, Meredith L. Jenkins, Michael Gong, John E. Burke, Calvin K. Yip

“…Lastly, we find that three Warburg Micro Syndrome-associated missense mutations do not affect the overall architecture of Rab3GAP but instead likely interfere with substrate binding.…”
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Three regulatory elements upstream of LMO4 are strongly associated with intermittent fertilization intensity in Chicken by Lei Wang, Weijian Fan, Xiuping Wang, Yangming Pan, Xing Hong, Mingze Li, ShiJun Li

“…Further motif analysis and dual luciferase validation uncovered three regulatory elements within the associated region that exhibited enhanced promoter or enhancer activity following significant SNP mutations. In conclusion, our findings indicate that LMO4, PRSS12, DNER, WIF1, and NRXN1 serve as primary candidate genes for regulating IFI. …”
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Trifluridine/tipiracil regimen in combination with bevacizumab for metastatic colorectal cancer in the third line: an expert opinion by Carmine Pinto, Sara Lonardi, Evaristo Maiello, Erika Martinelli, Michele Prisciandaro, Lisa Salvatore, Lisa Salvatore, Andrea Sartore-Bianchi, Andrea Sartore-Bianchi, Mario Scartozzi, Giuseppe Aprile, Chiara Cremolini, Alberto Sobrero

“…Of note, the efficacy is confirmed independently from KRAS mutational status and also for patients who had breaks in anti-vascular endothelial growth factor (anti-VEGF) therapy. …”
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CDK1 mediates the metabolic regulation of DNA double-strand break repair in metaphase II oocytes by Tian-Jin Xia, Feng-Yun Xie, Juan Chen, Xiao-Guohui Zhang, Sen Li, Qing-Yuan Sun, Qin Zhang, Shen Yin, Xiang-Hong Ou, Jun-Yu Ma

“…Abstract Background During oocyte maturation, DNA double-strand breaks (DSBs) can decrease oocyte quality or cause mutations. How DSBs are repaired in dividing oocytes and which factors influence DSB repair are not well understood. …”
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Geometric Simulation Approach for Grading and Assessing the Thermostability of CALBs by B. Senthilkumar, D. Meshachpaul, R. Rajasekaran

“…Additionally, it can also be used as a template to identify efficient thermostable lipases through further mutations.…”
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Recipient sex and donor leukemic cell characteristics determine leukemogenesis in patient-derived models by Anna MP. Stanger, Marlon Arnone, Pauline Hanns, Lucca M. Kimmich, Jessica Kübler, Sarah Gekeler, Elsa S. Görsch, Lea Kramer, Marcelle Baer, Jan C. Schroeder, Taylor S. Mills, Martina Konantz, Saskia S. Rudat, Claudia Lengerke

“…Shorter time-to-engraftment and mouse survival were observed with adverse molecular risk, and respectively with high FLT3-ITD ratio mutated AML cells. Adverse risk AML furthermore showed higher percentages of phenotypic leukemic stem cells (LSCs), suggesting impaired differentiation capacity in these AML subtypes. …”
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From Cure to Crisis: Understanding the Evolution of Antibiotic-Resistant Bacteria in Human Microbiota by Hamed Tahmasebi, Neda Arjmand, Marzieh Monemi, Ali Babaeizad, Farnaz Alibabaei, Negar Alibabaei, Aisa Bahar, Valentyn Oksenych, Majid Eslami

“…Key resistance mechanisms include genetic mutations, horizontal gene transfer, and biofilm formation, with the human microbiota acting as a reservoir for antibiotic resistance genes (ARGs). …”
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Direct-Acting Antivirals for the Treatment of Chronic Hepatitis C: Open Issues and Future Perspectives by Hee Bok Chae, Seon Mee Park, Sei Jin Youn

“…Combination of drugs with different mechanisms shows a good sustained virological response (SVR). But several mutations are associated with viral resistance to DAAs. …”
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Structural basis for RNA-guided DNA degradation by Cas5-HNH/Cascade complex by Yanan Liu, Lin Wang, Qian Zhang, Pengyu Fu, Lingling Zhang, Ying Yu, Heng Zhang, Hongtao Zhu

“…Our analysis reveals extensive interactions between the HNH domain and adjacent subunits, including Cas6 and Cas11, with mutations in these key interactions significantly impairing enzymatic activity. …”
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Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay by Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu, Fengchang Qiao, Cuiping Zhang, Lulu Meng, Yan Wang, Zhengfeng Xu, Ping Hu

“…Abstract Background Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance. …”
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Establishing a CRISPR/Cas9 genome editing framework in pigeonpea (Cajanus cajan L.) by targeting phytoene desaturase (PDS) gene disruption by Kameshwaran Senthil, Maniraj Rathinam, Manisha Parashar, Narasimham Dokka, Shaily Tyagi, Vandana Mathur, Sandhya Sharma, Kishor Gaikwad, Ramcharan Bhattacharya, Rohini Sreevathsa

“…While PCR analysis confirmed T-DNA integration, sequence analysis identified PDS gene mutations. Stability of the phenotype was demonstrated in T1 generation plants of in planta transformation-developed mutants. …”
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Role of Natural Radiosensitizers and Cancer Cell Radioresistance: An Update by Arif Malik, Misbah Sultana, Aamer Qazi, Mahmood Husain Qazi, Gulshan Parveen, Sulayman Waquar, Abdul Basit Ashraf, Mahmood Rasool

“…Cancer originates from genetic mutations accumulation. Cancer stem cells have been depicted as tumorigenic cells that can differentiate and self-renew. …”
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Engineered tRNAs efficiently suppress CDKL5 premature termination codons by Stefano Pezzini, Aurora Mustaccia, Pierre Aboa, Giorgia Faustini, Alessio Branchini, Mirko Pinotti, Angelisa Frasca, Joseph J. Porter, John D. Lueck, Nicoletta Landsberger

“…Therefore, mRNA-targeted correction strategies that respect the physiological regulation of CDKL5 could be a valid alternative to augmentative gene therapy. Nonsense mutations cause ~ 11% of CDD cases, and these patients might benefit from readthrough therapies. …”
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