Conserved Nuclear Localization Signal in NS2 Protein of Bombyx Mori Bidensovirus: A Potential Invertebrate ssDNA Virus Trait by Qian Yu, Jiaxin Yan, Ying Chen, Jinfeng Zhang, Qi Tang, Feifei Zhu, Lindan Sun, Shangshang Ma, Xiaoyong Liu, Keping Chen, Qin Yao

“…To investigate its structure and function, we employed phylogenetic analysis, subcellular localization, mutational analysis, and a dual-luciferase reporter system to characterize the nuclear localization signal (NLS) within NS2 and its effect on viral promoter activity. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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.…”
Get full text

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. …”
Get full text

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency by Maximiliano Presa, Rachel M. Bailey, Somdatta Ray, Lauren Bailey, Saurabh Tata, Tara Murphy, Pierre-Alexandre Piec, Harold Combs, Steven J. Gray, Cathleen Lutz

“…Abstract Background Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. …”
Get full text

Targeted dual biologic therapy for erythroderma of unknown etiology guided by high-parameter peripheral blood immunophenotyping by Hannah L. Cornman, Martin P. Alphonse, Arbor Dykema, Alexander L. Kollhoff, Kevin K. Lee, Jaya Manjunath, Emily Z Ma, Varsha Parthasarathy, Junwen Deng, Thomas Pritchard, Anusha Kambala, Melika Marani, Kayla A. Parr, Javid P. Mohammed, Madan M. Kwatra, Jay H. Bream, Won Jin Ho, Shawn G. Kwatra

“…Whole-genome sequencing of PBMCs and immunofluorescence staining of skin biopsies revealed increased expression of Th2- (IL-13, IL-4Rα) and Th17-associated markers (IL-17, IL-17Rα) and non-functional mutations associated with Th2 and Th17 signaling, demonstrating that PBMCs can reflect cutaneous disease pathology. …”
Get full text

p53-loss induced prostatic epithelial cell plasticity and invasion is driven by a crosstalk with the tumor microenvironment by Darya Yanushko, Beatriz German Falcon, Rana El Bizri, Despoina Pervizou, Robin Dolgos, Céline Keime, Tao Ye, Christelle Thibault-Carpentier, Clementine Le Magnen, Sandrine Henri, Gilles Laverny, Daniel Metzger

“…The tumor suppressor genes PTEN and TP53 are frequently mutated in prostate cancer and are predictive of early metastatic dissemination and unfavorable patient outcomes. …”
Get full text

Open-Label Fosmetpantotenate, a Phosphopantothenate Replacement Therapy in a Single Patient with Atypical PKAN by Yiolanda-Panayiota Christou, George A. Tanteles, Elena Kkolou, Annita Ormiston, Kostas Konstantopoulos, Maria Beconi, Randall D. Marshall, Horacio Plotkin, Kleopas A. Kleopa

“…PKAN is caused by biallelic PANK2 mutations, a gene that encodes pantothenate kinase 2, a regulatory enzyme in coenzyme A biosynthesis. …”
Get full text

RECQL4 requires PARP1 for recruitment to DNA damage, and PARG dePARylation facilitates its associated role in end joining by Mansoor Hussain, Prabhat Khadka, Komal Pekhale, Tomasz Kulikowicz, Samuel Gray, Alfred May, Deborah L. Croteau, Vilhelm A. Bohr

“…Abstract RecQ helicases, highly conserved proteins with pivotal roles in DNA replication, DNA repair and homologous recombination, are crucial for maintaining genomic integrity. Mutations in RECQL4 have been associated with various human diseases, including Rothmund–Thomson syndrome. …”
Get full text

Immune Dysfunction in Rett Syndrome Patients Revealed by High Levels of Serum Anti-N(Glc) IgM Antibody Fraction by Anna Maria Papini, Francesca Nuti, Feliciana Real-Fernandez, Giada Rossi, Caterina Tiberi, Giuseppina Sabatino, Shashank Pandey, Silvia Leoncini, Cinzia Signorini, Alessandra Pecorelli, Roberto Guerranti, Solange Lavielle, Lucia Ciccoli, Paolo Rovero, Claudio De Felice, Joussef Hayek

“…Rett syndrome (RTT), a neurodevelopmental disorder affecting exclusively (99%) female infants, is associated with loss-of-function mutations in the gene encoding methyl-CpG binding protein 2 (MECP2) and, more rarely, cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1). …”
Get full text