Reconstitution of human DNA licensing and the structural and functional analysis of key intermediates by Jennifer N. Wells, Lucy V. Edwardes, Vera Leber, Shenaz Allyjaun, Matthew Peach, Joshua Tomkins, Antonia Kefala-Stavridi, Sarah V. Faull, Ricardo Aramayo, Carolina M. Pestana, Lepakshi Ranjha, Christian Speck

“…Finally, the structure allowed us to locate cancer-associated mutations at the hCDC6-hMCM3 interface, which showed specific helicase loading defects.…”
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History and prospects of flax genetic markers by Daiana A. Zhernova, Elena N. Pushkova, Tatiana A. Rozhmina, Elena V. Borkhert, Alexander A. Arkhipov, Alexander A. Arkhipov, Elizaveta A. Sigova, Elizaveta A. Sigova, Ekaterina M. Dvorianinova, Ekaterina M. Dvorianinova, Alexey A. Dmitriev, Alexey A. Dmitriev, Nataliya V. Melnikova

“…To date, only a few are known, mainly mutations in the FAD3 genes responsible for reduced linolenic acid content in linseed oil. …”
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Oncogenic PIK3CA corrupts growth factor signaling specificity by Ralitsa R Madsen, Alix Le Marois, Oliwia N Mruk, Margaritis Voliotis, Shaozhen Yin, Jahangir Sufi, Xiao Qin, Salome J Zhao, Julia Gorczynska, Daniele Morelli, Lindsay Davidson, Erik Sahai, Viktor I Korolchuk, Christopher J Tape, Bart Vanhaesebroeck

“…Abstract Technical limitations have prevented understanding of how growth factor signals are encoded in distinct activity patterns of the phosphoinositide 3-kinase (PI3K)/AKT pathway, and how this is altered by oncogenic pathway mutations. We introduce a kinetic, single-cell framework for precise calculations of PI3K-specific information transfer for different growth factors. …”
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Informatics strategies for early detection and risk mitigation in pancreatic cancer patients by Di Jin, Najeeb Ullah Khan, Wei Gu, Huijun Lei, Ajay Goel, Tianhui Chen

“…This emphasizes the need for targeted screening in high-risk groups, particularly those with familial predispositions and genetic mutations, such as BRCA1, BRCA2, and PALB2. This review highlights the sporadic nature of most PC cases and significant risk factors, including smoking, alcohol consumption, obesity, and diabetes. …”
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Personalized medicine: An alternative for cancer treatment by Devendra Singh, Vinay Kumar Dhiman, Minakshi Pandey, Vivek Kumar Dhiman, Avinash Sharma, Himanshu Pandey, Sunil Kumar Verma, Rajeev Pandey

“…Personalized medicine allows for the creation of focused medicines that address specific gene mutations by leveraging knowledge about a patient's cancer, including its genetic makeup. …”
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Chromosome 1 Sequence Analysis of C57BL/6J-Chr1KM Mouse Strain by Fuyi Xu, Tianzhu Chao, Yiyin Zhang, Shixian Hu, Yuxun Zhou, Hongyan Xu, Junhua Xiao, Kai Li

“…Moreover, 46,590 of them were classified as novel mutations. Further functional annotation identified 155 genes harboring potentially functional variants, among which 27 genes have been associated with human diseases. …”
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Epsin3 promotes non-small cell lung cancer progression via modulating EGFR stability by Huiling Su, Jie Shen, Chenzi Gao, Yue Zhao, Wanyu Deng, Bo Qin, Xin Zhang, Juan Lai, Qian Wang, Jie Dou, Min Guo

“…This stabilization of EGFR led to sustained downstream signalling, promoting NSCLC cell proliferation and migration. Notably, mutations in the EGFR tyrosine kinase domain, which typically confer resistance to TKIs, did not alter the regulatory effect of EPN3. …”
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Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder by Amal Bouzid, Malek Belcadhi, Amal Souissi, Meryam Chelly, Fakher Frikha, Hela Gargouri, Crystel Bonnet, Fida Jebali, Salma Loukil, Christine Petit, Saber Masmoudi, Rifat Hamoudi, Mariem Ben Said

“…However, family-based studies on gene mutations are scarce. We performed whole-exome sequencing (WES) of a first-time-described Tunisian-family with DLD. …”
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Liquid biopsy approaches to capture tumor evolution and clinical outcomes during cancer immunotherapy by Susan Scott, Mark Sausen, Valsamo Anagnostou, Jennifer Jackson, Vincent Lam, Joseph C Murray, Lavanya Sivapalan, Jenna Vanliere Canzoniero, Blair Landon, Benjamin P. Levy

“…Clinical applications of ctDNA testing in patients treated with immune checkpoint inhibitors have shown both predictive and prognostic value through the detection of genomic biomarkers, such as tumor mutational burden and microsatellite instability, as well as allowing for real-time monitoring of circulating tumor burden and the assessment of early on-therapy responses. …”
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Bifidobacterium animalis ssp. lactis BX-245-fermented milk alleviates tumor burden in mice with colorectal cancer by Chengcong Yang, Musu Zha, Lu Li, Jiaqi Qiao, Lai-Yu Kwok, Dandan Wang, Yongfu Chen

“…ABSTRACT: Colorectal cancer (CRC) arises from the accumulation of abnormal mutations in colorectal cells during prolonged inflammation. …”
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A novel sensitizer reduces EGFR-TKI resistance by regulating the PI3K/Akt/mTOR pathway and autophagy by Jue Zhang, Zhipeng Qu, Xi Xiao, David L. Adelson, Funeng Wang, Aisheng Wei, Yuka Harata-Lee, Jian Cui, Dongying He, Le Xie, Lingling Sun, Jing Li, Zijing Huang, Thazin Aung, Hong Yao, Lizhu Lin

“…Background: The incidence and mortality of lung cancer are high, and treatment with epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) is the preferred first-line treatment for patients suffering from non-small cell lung cancer (NSCLC) with EGFR mutations. However, EGFR-TKI resistance leads to treatment failure. …”
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X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes by Aleksandra Rojek, Maciej R. Krawczynski, Aleksander Jamsheer, Anna Sowinska-Seidler, Barbara Iwaniszewska, Ewa Malunowicz, Marek Niedziela

“…X-linked Adrenal Hypoplasia Congenita (AHC) is caused by deletions or point mutations in the NR0B1 (DAX1) gene. We present a boy with AHC who came at the age of 25 days in a severe state due to prolonged vomiting and progressive dehydration. …”
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Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report by Aya Kawasaki, MD, Hidefumi Tonoki, MD, PhD, Osamu Sasaki, MD, PhD, Yoko Matsushita, MD, PhD, Michiko Watari, MD, PhD, Nobuhiro Takahashi, MD, Satoko Fujieda, MD

“…TS is an autosomal dominant disorder caused by the mutations in TSC1 or TSC2 genes. Here we report a case of a patient with a fetal and neonatal cardiac tumor who underwent a genetic analysis for TS after birth. …”
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Comprehensive landscape and oncogenic role of extrachromosomal circular DNA in malignant biliary strictures by Zhuo Cheng, Xuanmei Luo, Wenzheng Liu, Xiaofang Lu, Hong Chang, Yingchun Wang, Wei Zheng, Xiue Yan, Yonghui Huang

“…Bcf-eccDNAs carried cancer-related mutations, which could guide treatment. EccDNA carrying miR-106a/363 cluster or miR-374b/421 cluster were proven to regulate cancer gene expression, accelerate tumor proliferation, and inhibit tumor apoptosis. …”
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The landscape of rare mitochondrial DNA variants in sudden cardiac death: A potential role for ATP synthase by Elena Luppi, Monica De Luise, Carla Bini, Guido Pelletti, Gaia Tioli, Ivana Kurelac, Luisa Iommarini, Susi Pelotti, Giuseppe Gasparre

“…Therefore, we aimed to define the mtDNA mutational landscape in such phenotype, by sequencing the whole blood mtDNA genome in a pilot cohort of 28 unrelated subjects. …”
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Metabolomic profiling of saliva from cystic fibrosis patients by M. Caterino, M. Costanzo, A. Castaldo, P. Iacotucci, V. Carnovale, M. Ruoppolo, M. Gelzo, G. Castaldo

“…Abstract The development of targeted therapies that correct the effect of mutations in patients with cystic fibrosis (CF) and the relevant heterogeneity of the clinical expression of the disease require biomarkers correlated to the severity of the disease useful for monitoring the therapeutic effects. …”
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Modeling and correction of protein conformational disease in iPSC-derived neurons through personalized base editing by Colin T. Konishi, Nancy Mulaiese, Tanvi Butola, Qinkun Zhang, Dana Kagan, Qiaoyan Yang, Mariel Pressler, Brooke G. Dirvin, Orrin Devinsky, Jayeeta Basu, Chengzu Long

“…Altered protein conformation can cause incurable neurodegenerative disorders. Mutations in SERPINI1, the gene encoding neuroserpin, can alter protein conformation resulting in cytotoxic aggregation leading to neuronal death. …”
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Targeted allele-specific FGFR2 knockdown via human recombinant ferritin nanoparticles for personalized treatment of Crouzon syndrome by Federica Tiberio, Martina Salvati, Luca Polito, Giada Tisci, Alessia Vita, Ornella Parolini, Luca Massimi, Lorena Di Pietro, Pierpaolo Ceci, Gianpiero Tamburrini, Alessandro Arcovito, Elisabetta Falvo, Wanda Lattanzi

“…Crouzon syndrome is a rare genetic craniofacial malformation caused by heterozygous gain-of-function mutations in the FGFR2 gene. The resulting constitutive activation of the FGFR2 signaling causes the premature osteogenic differentiation of calvarial mesenchymal stromal cells in skull sutures, leading to early suture ossification. …”
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Refractory human cytomegalovirus infection without evidence of genetic resistance in the UL-54 and UL-97 genes in a pediatric hematopoietic stem cell transplant recipient: a case r... by Alejandra Pando-Caciano, Ketty Adid Escudero-Ramirez, Jackeline Carol Rodríguez-Torres, Holger Maita-Malpartida, Holger Maita-Malpartida

“…Furthermore, this case highlights the importance of using highly sensitive genetic tools to detect mutations associated with virus resistance in a broader range of the viral genome.…”
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PARP Inhibitors in the Treatment of Ovarian Cancer by Andrzej Paweł Zuzak, Magdalena Cieślik-Porębska, Krzysztof Kułak, Jagoda Niewiadomska

“…Olaparib, niraparib, and rucaparib have become integral to ovarian cancer management, offering effective options for patients with BRCA mutations or homologous recombination deficiencies. …”
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