Proceedings of the National Academy of Sciences of the United States of America

最新文章

• Total whole- arm chromosome losses predict malignancy in human cancer AI翻译
  作者：Zheng, Ye; Ahmad, Kami; Henikoff, Steven
  作者单位：Fred Hutchinson Cancer Center; Howard Hughes Medical Institute; University of Texas System; UTMD Anderson Cancer Center
  摘要：Aneuploidy is observed as gains or losses of whole chromosomes or chromosome arms and is a common hallmark of cancer. Whereas models for the generation of aneuploidy in cancer invoke mitotic chromosome segregation errors, whole-arm losses might occur simply as a result of centromere breakage. We recently showed that elevated RNA Polymerase II level over the S-phase-dependent histone genes predicts rapid recurrence of human meningioma and is correlated with total whole-arm losses relative to ga...
• Mixing individual and collective behaviors to predict out-of-routine mobility AI翻译
  作者：Bontorin, Sebastiano; Centellegher, Simone; Gallotti, Riccardo; Pappalardo, Luca; Lepri, Bruno; Luca, Massimiliano
  作者单位：Fondazione Bruno Kessler; University of Trento; Fondazione Bruno Kessler; Consiglio Nazionale delle Ricerche (CNR); Istituto di Scienza e Tecnologie dell'Informazione Alessandro Faedo (ISTI-CNR); Scuola Normale Superiore di Pisa
  摘要：Predicting human displacements is crucial for addressing various societal challenges, including urban design, traffic congestion, epidemic management, and migration dynamics. While predictive models like deep learning and Markov models offer insights into individual mobility, they often struggle with out-of-routine behaviors. Our study introduces an approach that dynamically integrates individual and collective mobility behaviors, leveraging collective intelligence to enhance prediction accura...
• LACE-UP: An ensemble machine-learning method for health subtype classification on multidimensional binary data AI翻译
  作者：Danning, Rebecca; Hu, Frank B.; Lin, Xihong
  作者单位：Harvard University; Harvard T.H. Chan School of Public Health; Harvard University; Harvard T.H. Chan School of Public Health; Harvard University
  摘要：Disease and behavior subtype identification is of significant interest in biomedical research. However, in many settings, subtype discovery is limited by a lack of robust statistical clustering methods appropriate for binary data. Here, we introduce LACE-UP [latent class analysis ensembled with UMAP (uniform manifold approximation and projection) and PCA (principal components analysis)], an ensemble machine-learning method for clustering multidimensional binary data that does not require presp...
• Inhaled DNAI1 mRNA therapy for treatment of primary ciliary AI翻译
  作者：Hennig, Mirko; Bhattacharjee, Rumpa B.; Agarwal, Ishita; Alfaifi, Ali; Casillas, Jade E.; Chavez, Sofia; Ishimaru, Daniella; Liston, David; Mohapatra, Sakya; Molla, Touhidul; Pathare, Suyog; Sidhu, Maninder S.; Wang, Peng; Wang, Zechen; Lombana, T. Noelle; Kharitonov, Vladimir G.; Couch, Jessica A.; Lockhart, David J.; Wustman, Brandon A.
  摘要：Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder caused by mutations in one of at least 50 different genes that encode proteins involved in the biogenesis, structure, or function of motile cilia. Genetically inherited defects in motile cilia cause PCD, a debilitating respiratory disease for which there is no approved therapy. The dynein axonemal intermediate chain 1 (DNAI1) protein is a key structural element of the ciliary outer dynein arm (ODA) critical for normal ciliary ...
• RRM2B deficiency causes dATP and dGTP depletion through enhanced degradation and slower synthesis AI翻译
  作者：Awoyomi, Ololade Folajimi; Gorospe, Choco Michael; Das, Biswajit; Mishra, Pradeep; Sharma, Sushma; Diachenko, Olena; Nilsson, Anna Karin; Tran, Phong; Wanrooij, Paulina H.; Chabes, Andrei
  作者单位：Umea University
  摘要：Mitochondrial DNA (mtDNA) replication requires a steady supply of deoxyribonucleotides (dNTPs), synthesized de novo by ribonucleotide reductase (RNR). In non-dividing cells, RNR consists of RRM1 and RRM2B subunits. Mutations in RRM2B cause mtDNA depletion syndrome, linked to muscle weakness, neurological decline, and early mortality. The impact of RRM2B deficiency on dNTP pools in nondividing tissues remains unclear. Using a mouse knockout model, we demonstrate that RRM2B deficiency selectivel...
• Changes in agglomeration and productivity are poor predictors of inequality across the archaeological record AI翻译
  作者：Ortman, Scott G.; Bogaard, Amy; Munson, Jessica; Lawrence, Dan; Green, Adam S.; Feinman, Gary M.; Chirikure, Shadreck; Uhl, Johannes H.; Leyk, Stefan
  作者单位：University of Colorado System; University of Colorado Boulder; The Santa Fe Institute; University of Colorado System; University of Colorado Boulder; University of Oxford; Durham University; University of York - UK; University of York - UK; Field Museum of Natural History (Chicago); European Commission Joint Research Centre; EC JRC ISPRA Site; University of Colorado System; University of Colorado Boulder
  摘要：We address three basic issues regarding the long-term dynamics of inequality in society. First, we consider the interpretation of residence sizes in socioeconomic terms by comparing statistical patterns extracted from the Global Dynamics of Inequality (GINI) Project database with those from the 21st-century United States. Second, we examine the degree to which the size and productivity of human networks is systematically related to inequality. Finally, we investigate relationships between prod...
• Mapping global brain reconfigurations following local targeted manipulations AI翻译
  作者：Rabuffo, Giovanni; Lokossou, Houefa-Armelle; Li, Zengmin; Ziaee-Mehr, Abolfazl; Hashemi, Meysam; Quilichini, Pascale P.; Ghestem, Antoine; Arab, Ouafae; Esclapez, Monique; Verma, Parul; Raj, Ashish; Gozzi, Alessandro; Sorrentino, Pierpaolo; Chuang, Kai-Hsiang; Perles-Barbacaru, Teodora-Adriana; Viola, Angele; Jirsa, Viktor K.; Bernard, Christophe
  作者单位：Institut National de la Sante et de la Recherche Medicale (Inserm); Aix-Marseille Universite; Assistance Publique-Hopitaux de Marseille; Centre National de la Recherche Scientifique (CNRS); Aix-Marseille Universite; University of Queensland; University of California System; University of California San Francisco; Istituto Italiano di Tecnologia - IIT; Center for Neuroscience & Cognitive System IIT
  摘要：Understanding how localized brain interventions influence whole-brain dynamics is essential for deciphering neural function and designing therapeutic strategies. Using longitudinal functional MRI datasets collected from mice, we investigated the effects of focal interventions, such as thalamic lesions and chemogenetic silencing of cortical hubs. We found that these local manipulations disrupted the brain's ability to sustain network-wide activity, leading to global functional connectivity (FC)...
• Force spectroscopy reveals membrane fluctuations and surface adhesion of extracellular nanovesicles impact their elastic behavior AI翻译
  作者：Stridfeldt, Fredrik; Pandey, Vikash; Kylhammar, Hanna; Gevari, Moein Talebian; Metem, Prattakorn; Agrawal, Vipin; Goergens, Andre; Mamand, Doste R.; Gilbert, Jennifer; Palmgren, Lukas; Holme, Margaret N.; Gustafsson, Oskar; El Andaloussi, Samir; Mitra, Dhrubaditya; Dev, Apurba
  作者单位：Royal Institute of Technology; Royal Institute of Technology; Nordic Institute for Theoretical Physics; Stockholm University; Uppsala University; Royal Institute of Technology; Stockholm University; Karolinska Institutet; Karolinska Institutet; Karolinska University Hospital; University of Duisburg Essen; Karolinska Institutet; Karolinska University Hospital; Chalmers University of Technology
  摘要：The elastic properties of nanoscale extracellular vesicles (EVs) are believed to influence their cellular interactions, thus having a profound implication in intercellular communication. However, accurate quantification of their elastic modulus is challenging due to their nanoscale dimensions and their fluid-like lipid bilayer. We show that the previous attempts to develop atomic force microscopy-based protocol are flawed as they lack theoretical underpinning as well as ignore important contri...
• ATM priming and end resection-coupled phosphorylation of MRE11 is important for fork protection and replication restart AI翻译
  作者：Zhang, Huimin; Li, Youhang; Shah, Sameer Bikram; Li, Shibo; Li, Qingrong; Oaks, Joshua; Lv, Tinghong; Shi, Linda Z.; Wang, Hailong; Wang, Dong; Wu, Xiaohua
  作者单位：Scripps Research Institute; Capital Normal University; University of California System; University of California San Diego; University of California System; University of California San Diego
  摘要：The MRE11/RAD50/NBS1 (MRN) complex plays multiple roles in the maintenance of genome stability. MRN is associated with replication forks to preserve fork integrity and is also required for end resection at double-strand breaks (DSBs) to facilitate homologous recombination (HR). The critical need for proper control of the MRE11 nuclease activity is highlighted by the extensive nascent strand DNA degradation driven by MRE11 in BRCA-deficient cells, leading to genome instability and increased sen...
• Emergent gauge fields in band insulators AI翻译
  作者：Han, Zhaoyu; Kivelson, Steven A.
  作者单位：Stanford University
  摘要：By explicit microscopic construction involving a mapping to a quantum vertex model subject to the ice rule, we show that an electronically trivial band insulator with suitable vibrational (phonon) degrees of freedom can host a resonating valence-bond state-a quantum phase with emergent gauge fields. This type of band insulator is identifiable by the existence of emergent gapless photon modes and deconfined excitations, the latter of which carry nonquantized mobile charges. We suggest that such...