68Ga-NOTA-RM26 PET/CT in the evaluation of glioma: a pilot prospective study by Yilin Li, Rongxi Wang, Jingci Chen, Zhaohui Zhu, Yu Wang, Wenbin Ma

“…There was a positive correlation (P < 0.01) between GRPR expression level and SUVmax. P53 mutations caused significant differences in SUVmax (P = 0.03). …”
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CHD6 has poly(ADP-ribose)- and DNA-binding domains and regulates PARP1/2-trapping inhibitor sensitivity via abasic site repair by Luc Provencher, Wilson Nartey, Peter M. Brownlee, Austin W. Atkins, Jean-Philippe Gagné, Lou Baudrier, Nicholas S. Y. Ting, Cortt G. Piett, Shujuan Fang, Dustin D. Pearson, Shaun Moore, Pierre Billon, Zachary D. Nagel, Guy G. Poirier, Gareth J. Williams, Aaron A. Goodarzi

“…Here, we demonstrate that mutating the CHD6 chromatin remodeler sensitizes cells to PARP1/2 inhibitors in a manner distinct from BRCA1, and that CHD6 recruitment to DNA damage requires cooperation between PAR- and DNA-binding domains essential for nucleosome sliding activity. …”
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Programmed Cell Death, Proliferating Cell Nuclear Antigen and p53 Expression in Mouse Colon Mucosa during Diet-Induced Tumorigenesis by Mauro Risio, Ivana Sarotto, Francesco Paolo Rossini, Harold Newmark, Kan Yang, Martin Lipkin

“…A major finding was an irreversible, progressive, age‐related decline of PCD at the crypt base in both control and treated animals that occurred during the second half of the rodents  life span. p53 protein was not immunohistochemically detected, suggesting that neither overexpression of wild‐type nor mutated forms of the protein are involved in the above mentioned changes.…”
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Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases by Fernando De Maio, Alessandro Fichera, Vincenzo De Luna, Federico Mancini, Roberto Caterini

“…Marfan syndrome is caused by mutations in the fibrillin-1 gene (FBN1). The most important features affect the cardiovascular system, eyes, and skeleton. …”
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Paget’s disease of the breast: a contemporary perspective by O. O. Yemelyanova, A. D. Zikiryakhodzhaev, N. N. Volchenko, V. V. Efanov

“…Significant prognostic factors, e.g. the invasive component of Paget’s cancer, the involvement status of regional lymph nodes, morphological criteria, the grade of malignancy, overexpression of epidermal growth factor Her2/neu, the presence of BRCA 1/2 and CHEK2 gene mutations, as well as age, affect the prognosis of Paget’s disease. …”
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KMT2C/KMT2D-dependent H3K4me1 mediates changes in DNA replication timing and origin activity during a cell fate transition by Deniz Gökbuget, Liana Goehring, Ryan M. Boileau, Kayla Lenshoek, Tony T. Huang, Robert Blelloch

“…Our findings reveal KMT2C/D-dependent H3K4me1 as a key regulator of RT and replication initiation, a role that likely impacts diseases associated with KMT2C/D mutations.…”
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Real-world clinical multi-omics analyses reveal bifurcation of ER-independent and ER-dependent drug resistance to CDK4/6 inhibitors by Zhengyan Kan, Ji Wen, Vinicius Bonato, Jennifer Webster, Wenjing Yang, Vladimir Ivanov, Kimberly Hyunjung Kim, Whijae Roh, Chaoting Liu, Xinmeng Jasmine Mu, Jennifer Lapira-Miller, Jon Oyer, Todd VanArsdale, Paul A. Rejto, Jadwiga Bienkowska

“…The ER independent subgroup, growing from 5% pre-treatment to 21% post-progression, is characterized by down-regulated estrogen signaling and enrichment of resistance markers including TP53 mutations, CCNE1 over-expression and Her2/Basal subtypes. …”
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In vitro long-term exposure to chlorhexidine or triclosan induces cross-resistance against azoles in Nakaseomyces glabratus by Kathrin Spettel, Dominik Bumberger, Richard Kriz, Sarah Frank, Madita Loy, Sonia Galazka, Miranda Suchomel, Heimo Lagler, Athanasios Makristathis, Birgit Willinger

“…However, 50 N. glabratus isolates acquired resistance to azole antifungals after long-term exposure to triclosan or chlorhexidine, revealing newly acquired mutations in the PDR1 and PMA1 genes. Conclusions Chlorhexidine as well as triclosan, but not octenidine, were able to introduce selective pressure promoting resistance to azole antifungals. …”
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Case report: A rare case of a long-term survivor of glioblastoma who underwent two courses of hypofractionated radiotherapy as part of her care by Midhad Mrvoljak, Midhad Mrvoljak, Shubhendu Mishra, Liam Chen, Liam Chen, Elizabeth Neil, Elizabeth Neil, Eric Ehler, Stephanie Terezakis, Stephanie Terezakis, Lindsey Sloan, Lindsey Sloan

“…The patient is a 75-year-old woman who presented with progressive aphasia and was diagnosed with GB (WHO grade 4, IDH1/IDH2 wild type, ATRX intact, p53 and PTEN mutant, BRAF non-mutated, O6-methylguanine-DNA methyltransferase promoter methylated) and who underwent surgical resection, hypofractionated radiotherapy (HFRT) using intensity-modulated radiotherapy (IMRT) (4,005 cGy in 15 fractions) alone, and adjuvant temozolomide (TMZ). …”
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Functional Role of SIL1 in Neurodevelopment and Learning by Shilian Xu, Jia Zhu, Kai Mi, Yan Shen, Xiaomin Zhang

“…Sil1 is the causative gene of Marinesco-Sjӧgren Syndrome (MSS). The mutated Sil1 generates shortened SIL1 protein which will form aggregation and be degraded rapidly. …”
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Advances in bioinformatics and multi-omics integration: transforming viral infectious disease research in veterinary medicine by Alyaa Elrashedy, Walid Mousa, Mohamed Nayel, Akram Salama, Ahmed Zaghawa, Ahmed Elsify, Mohamed E. Hasan

“…Additionally, multi-omics data integration further deepens our understanding of homology, divergence, mutations, and evolutionary relationships, providing a comprehensive perspective on the molecular mechanisms driving animal pathogens infections. …”
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Engineering hydrophobicity and manufacturability for optimized biparatopic antibody–drug conjugates targeting c-MET by Andreas Evers, Simon Krah, Deniz Demir, Ramona Gaa, Desislava Elter, Christian Schroeter, Stefan Zielonka, Nicolas Rasche, Julia Dotterweich, Christine Knuehl, Achim Doerner

“…In addition to rational design of HCDR2 and HCDR3 mutations, site-specific spiking libraries were generated and screened in yeast and mammalian surface display approaches. …”
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Anti-proteolytic regulation of KRAS by USP9X/NDRG3 in KRAS-driven cancer development by Han Koo, Kyung Chan Park, Hyun Ahm Sohn, Minho Kang, Dong Joon Kim, Zee-Yong Park, Sehoon Park, Sang Hyun Min, Seong-Hwan Park, Yeon-Mi You, Yohan Han, Bo-Kyung Kim, Chul-Ho Lee, Yeon-Soo Kim, Sang J. Chung, Young Il Yeom, Dong Chul Lee

“…Abstract Cancers with activating mutations of KRAS show a high prevalence but remain intractable, requiring innovative strategies to overcome the poor targetability of KRAS. …”
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Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males by Juliana Gabriel Ribeiro de Andrade, Antonia Paula Marques-de-Faria, Helena Campos Fabbri, Maricilda Palandi de Mello, Gil Guerra-Júnior, Andréa Trevas Maciel-Guerra

“…All were reared as males and had at least one scrotal testis; two bore NR5A1 mutations. Main outcomes were: associated conditions, pubertal development, and growth. …”
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Codeine 3-O-demethylase catalyzed biotransformation of morphinan alkaloids in Escherichia coli: site directed mutagenesis of terminal residues improves enzyme expression, stability... by Garrick W. K. Spencer, Xu Li, Kenny W. L. Lam, George Mutch, Fiona H. Fry, Sally L. Gras

“…This approach could be beneficial for screening future codeine 3-O-demethylase mutations and for other enzymes.…”
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PARP inhibition-associated heterochromatin confers increased DNA replication stress and vulnerability to ATR inhibition in SMARCA4-deficient cells by Kimiyoshi Yano, Megumi Kato, Syoju Endo, Taichi Igarashi, Ryoga Wada, Takashi Kohno, Astrid Zimmermann, Heike Dahmen, Frank T. Zenke, Bunsyo Shiotani

“…Abstract DNA replication stress (RS), a prevalent feature of various malignancies, arises from both genetic mutations and genotoxic exposure. Elevated RS levels increase the vulnerability of cancer cells to ataxia telangiectasia and Rad3-related kinase inhibitors (ATRis). …”
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Hemophagocytic Lymphohistiocytosis in a Patient with Classical Hodgkin Lymphoma by G. Hyun, K. J. Robbins, N. Wilgus, L. Grosso, S. D. Goyal

“…Hemophagocytic lymphohistiocytosis (HLH) is a rare hyperinflammatory syndrome that can be associated with inherited genetic mutations, malignancy, autoimmune disorders, and viral infections. …”
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Post-Translational Modifications of Proteins Orchestrate All Hallmarks of Cancer by Pathea Shawnae Bruno, Aneeta Arshad, Maria-Raluca Gogu, Natalie Waterman, Rylie Flack, Kimberly Dunn, Costel C. Darie, Anca-Narcisa Neagu

“…Post-translational modifications (PTMs) of proteins dynamically build the buffering and adapting interface between oncogenic mutations and environmental stressors, on the one hand, and cancer cell structure, functioning, and behavior. …”
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Integrated multi-omics analysis reveals clinical significance of hepatocyte nuclear factor-1β in tumor immune microenvironment, immunotherapy and prognostic prediction for colon ad... by Fushan Gao, Wenlin Gong, Haihua He, Zhen Zhang, Hongcai Yang, Fei Shao, Yibo Gao, Jie He

“…Abstract Background Research has consistently highlighted the key role of hepatocyte nuclear factor 1β (HNF1B) in organ development and cancer, including its involvement in colon cancer via shifted-code mutations. However, the specific effects of HNF1B on cancer immunotherapy and the immune microenvironment are not fully understood. …”
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Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome by Hao Zheng, Jun Xu, Yu Wang, Yun Lin, Qingqiang Hu, Xing Li, Jiusheng Chu, Changling Sun, Yongchuan Chai, Xiuhong Pang

“…As the most common causative gene for BORSD, dominant mutations in EYA1 are responsible for approximately 40% of the cases. …”
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