The WAVE complex in developmental and adulthood brain disorders by Hyung-Goo Kim, Clara Berdasco, Angus C. Nairn, Yong Kim

“…Notably, dysregulation of the WAVE complex and WAVE complex-mediated cellular processes confers vulnerability to a variety of brain disorders. De novo mutations in WAVE genes and other components of the WAVE complex have been identified in patients with developmental disorders such as intellectual disability, epileptic seizures, schizophrenia, and/or autism spectrum disorder. …”
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Genomic characterization of chronic lymphocytic leukemia in patients of African ancestry by Cecilia Bonolo de Campos, Chantal E. McCabe, Laura A. Bruins, Daniel R. O’Brien, Sochilt Brown, Renee C. Tschumper, Cristine Allmer, Yuan Xiao Zhu, Kari G. Rabe, Sameer A. Parikh, Neil E. Kay, Huihuang Yan, James R. Cerhan, John N. Allan, Richard R. Furman, J. Brice Weinberg, Danielle M. Brander, Diane F. Jelinek, Marta Chesi, Susan L. Slager, Esteban Braggio

“…We sequenced 59 putative driver genes and found an increased frequency of high-impact mutations in AA CLL, including genes of the DNA damage repair (DDR) pathway. …”
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The impact of social complexity on the efficacy of natural selection in termites by Roux, Camille, Ha, Alice, Weyna, Arthur, Lode, Morgan, Romiguier, Jonathan

“…First, by analyzing transcriptome data from 66 Blattodea species, we focus on the ratio of non-synonymous to synonymous mutations dN/dS as a marker of natural selection efficiency and effective population size. …”
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Fully automated extraction of high-quality total nucleic acids from FFPE specimens for comprehensive genomic profiling of solid tumors by Kristopher Amirault, Michael Collins, Luca Beker, Brandon Mills, Martina Werner, Jonathan Andreas, Daniel Hartman, Jordan Dargert, Vanessa Process, Sean Cederlund, Thuy Dao, Linnea Menin, Molly Ferrara, Andrew Briggs, Joshua Shreve, Daniel Metzger, Angela Stout, Erin Deblasi, Jie An, Taylor Jensen, Shengle Zhang, Vinesh Rana, Bryn Burlingame, Ulrich Thomann, Durga Prasad Dash, Sha Liao, Jeffrey M. Conroy, Eugenio Daviso

“…By identifying actionable mutations through next-generation sequencing of solid tumors CGP enables targeted therapy decisions. …”
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Effect of genomic regions harboring putative lethal haplotypes on reproductive performance in closed experimental selection lines of Nellore cattle by Gustavo R. D. Rodrigues, Joslaine N. S. G. Cyrillo, Lúcio F. M. Mota, Patrícia I. Schmidt, Júlia P. S. Valente, Eduarda S. Oliveira, Lúcia G. Albuquerque, Luiz F. Brito, Maria E. Z. Mercadante

“…Abstract Lethal alleles are mutations in the genome that cause embryonic losses in affected homozygous embryos and, therefore, can negatively influence reproduction rates in commercial populations. …”
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Molecular characterization of mixed-histology endometrial carcinoma provides prognostic and therapeutic value over morphologic findings by Paulina J. Haight, Ashwini Esnakula, Courtney J. Riedinger, Adrian A. Suarez, Jessica Gillespie, Ashley Patton, Alexis Chassen, David E. Cohn, Casey M. Cosgrove

“…Tumors were classified as: POLE-mutated (13.9%), microsatellite instability (MSI)-high/mismatch repair deficient (MMRd) (26.4%), TP53/p53 abnormal (p53abnl) (48.6%), no specific molecular profile (NSMP) (11.1%). …”
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Longitudinal characterization reveals behavioral impairments in aged APP knock in mouse models by Lisa Blackmer-Raynolds, Lyndsey D. Lipson, Isabel Fraccaroli, Ian N. Krout, Jianjun Chang, Timothy Robert Sampson

“…The APPSAA mouse model (containing the humanized APP with three familial Alzheimer’s disease mutations) and the APPWT control (containing wildtype humanized APP) are the first commercially available APP KI mice within the United States. …”
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FusOn-pLM: a fusion oncoprotein-specific language model via adjusted rate masking by Sophia Vincoff, Shrey Goel, Kseniia Kholina, Rishab Pulugurta, Pranay Vure, Pranam Chatterjee

“…FusOn-pLM uniquely predicts drug-resistant mutations, providing insights for therapeutic design that anticipates resistance mechanisms. …”
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Antibiotic-associated changes in Akkermansia muciniphila alter its effects on host metabolic health by Yumin Han, Teh Min Teng, Juwon Han, Heenam Stanley Kim

“…Results In this study, we discovered that variants of the key beneficial gut microbe, Akkermansia muciniphila, were selected upon exposure to penicillin. These variants had mutations in the promoter of a TEM-type β-lactamase gene or pur genes encoding the de novo purine biosynthesis pathway, and they exhibited compromised abilities to mitigate host obesity in a murine model. …”
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Development of RNA interference-based therapy for rare genetic diseases by Milya Urfa Ahmad, Syarifah Dewi

“…These diseases, often congenital, are linked to genetic inheritance or mutations, leading to structural or functional defects. …”
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Cellular and genetic analysis of wound healing in Drosophila larvae. by Michael J Galko, Mark A Krasnow

“…Inactivation of the JNK pathway inhibits epidermal spreading and reepithelialization but does not affect scab formation or other wound healing responses. Conversely, mutations that block scab formation, and a scabless wounding procedure, provide evidence that the scab stabilizes the wound site but is not required to initiate other wound responses. …”
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Trichostatin A suppresses hearing loss by reducing oxidative stress and inflammation in an Alport syndrome model. by Yoon Seok Nam, Eun-Ji Gi, Yoo-Seung Ko, Sungsu Lee, Hyong-Ho Cho

“…Alport syndrome (AS) is a genetic disorder marked by mutations in type IV collagen, leading to kidney glomerular dysfunction. …”
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Pax6 regulates neuronal migration and cell proliferation via interacting with Wnt3a during cortical development by Bichao Zhang, Meihua Hou, Jiayan Huang, Yunfei Liu, Ciqing Yang, Juntang Lin

“…In patients with heterozygous Pax6 mutations, a reduction in thickness of the frontoparietal cortex was detected, which was also observed in small eye mice. …”
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Dysbiosis and extraintestinal cancers by Ruishan He, Pingqian Qi, Linzhen Shu, Yidan Ding, Peng Zeng, Guosheng Wen, Ying Xiong, Huan Deng

“…The oncogenic cascade always engages in the disruption of hormonal regulation and inflammatory responses, the induction of genomic instability and mutations, and the dysregulation of adult stem cell proliferation. …”
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Challenges in Diagnosing Intrahepatic Cholangiolithiasis in a 39-Year-Old Patient by A. K. Guseva, O. N. Sergeyeva, T. P. Nekrasova, O. T. Imaraliev, A. V. Okhlobystin, Y. N. Shirokova, A. S. Ostrovskaya, M. S. Zharkova, A. S. Cherenda, V. T. Ivashkin

“…Cholangiolithiasis occurs in more than half of cases of primary sclerosing cholangitis and can be both a complication and a cause of secondary sclerosing cholangitis, maintaining inflammation in the ducts and facilitating stone formation. Genetic mutations are known to contribute to the development of gallstones in young patients, including low phospholipid-associated cholelithiasis. …”
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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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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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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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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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