Identification of Binding Partners of Deafness-Related Protein PDZD7 by Haibo Du, Rui Ren, Panpan Chen, Zhigang Xu, Yanfei Wang

“…PDZD7 is an important deafness gene, whose mutations are associated with syndromic and nonsyndromic hearing loss. …”
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Epidemiological Features of Clostridium difficile Colonizing the Intestine of Jordanian Infants by Eman N. Abu-Khader, Eman F. Badran, Asem A. Shehabi

“…The results showed that 40.5% of the isolates carried mutated gyrA and gyrB genes which have cross-resistance to ciprofloxacin and moxifloxacin. …”
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Effect of innate and induced immunity on infectious bursal disease pathogenesis by A. N. Semina

“…Being the RNA-virus, the agent is specified by high frequency of mutations, which result in the emergence of the strains with modified antigenicity and increased virulence. …”
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ParSite is a multicolor DNA labeling system that allows for simultaneous imaging of triple genomic loci in living cells. by Xiaohui He, Yadong Sun, Hanhui Ma

“…The tricolor ParSite system is derived from the T. thermophilus ParB/ParSc (TtParB/ParSc) system by rational design. We mutated the interface between TtParB and ParSc and generated a new pair of TtParBm and ParSm for genomic DNA labeling. …”
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The small GTPase MRAS is a broken switch by Gabriela Bernal Astrain, Regina Strakhova, Chang Hwa Jo, Emma Teszner, Ryan C. Killoran, Matthew J. Smith

“…Synthetic activating mutations widely used to study the function of MRAS in a presumed GTP-loaded state do not increase exchange, but instead drive effector binding due to sampling of an activated conformation in the GDP-loaded state. …”
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Structural Variation of Element and Human Disease by Songmi Kim, Chun-Sung Cho, Kyudong Han, Jungnam Lee

“…According to the model, different subfamilies of Alu elements are created by mutations on the master gene and most Alu elements are amplified from the hyperactive master genes. …”
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The Pathogenesis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome: A Review of Current Research by Barbara Kraszewska-Głomba, Agnieszka Matkowska-Kocjan, Leszek Szenborn

“…The absence of a clear monogenic trait indicates a heterogenous, polygenic, or complex inheritance of PFAPA syndrome. As two mutations with a possible functional effect on the inflammasomes (MEFV E148Q and NLRP3 Q703K) have been found in several PFAPA cohorts, the role of inflammasome-related genes in PFAPA pathogenesis cannot be excluded. …”
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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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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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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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XRCC1 R194W and R399Q Polymorphisms and Colorectal Cancer Risk in a Northeastern Mexican Population by Juan Pablo Meza-Espinoza, Valeria Peralta-Leal, Jorge Durán-González, Nelly Macías-Gómez, Anabel Bocanegra-Alonso, Evelia Leal-Ugarte

“…Its etiopathogenesis is complex, mainly influenced by genetic instability caused by the accumulation of mutations. The XRCC1 gene, which is involved in DNA repair, has been associated with CRC through the R194W (C194T) and R399Q (G399A) polymorphisms, but the results are inconsistent. …”
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Deficient Purposeful Use of Forepaws in Female Mice Modelling Rett Syndrome by Bianca De Filippis, Mattia Musto, Luisa Altabella, Emilia Romano, Rossella Canese, Giovanni Laviola

“…Rett syndrome (RTT) is a rare neurodevelopmental disorder, characterized by severe behavioural and physiological symptoms. Mutations in the methyl CpG binding protein 2 gene (MECP2) cause more than 95% of classic cases. …”
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Alpha synuclein and inflammaging by Geneviève L. Putnam, Robert W. Maitta

“…Regarding abnormal α-syn, a number of autosomal dominant mutations have been identified as causes of familial PD, however, symptomatology may not become apparent until later in life due to compensatory mechanisms in the dopaminergic response. …”
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Tracking the genetic diversity of SARS-CoV-2 variants in Nicaragua throughout the COVID-19 pandemic by Gerald Vásquez Alemán, Cristhiam Cerpas, Jose G. Juarez, Hanny Moreira, Sonia Arguello, Josefina Coloma, Eva Harris, Aubree Gordon, Shannon N. Bennett, Ángel Balmaseda

“…The study also linked specific viral mutations with hospitalization rates, emphasizing the clinical relevance of genomic surveillance. …”
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Recent Advances in the Pathogenesis of Syndromic Autisms by A. Benvenuto, B. Manzi, R. Alessandrelli, C. Galasso, P. Curatolo

“…The PubMed database was searched with the keywords “autism” and “chromosomal abnormalities,” “metabolic diseases,” “susceptibility loci.” Results. Defined mutations, genetic syndromes, and metabolic diseases account for up to 20% of autistic patients. …”
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