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

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• Impaired axon initial segment structure and function in a model of ARHGEF9 developmental and epileptic encephalopathy AI翻译
  作者：Wang, Wanqi; Williams, Damian J.; Teoh, Jia Jie; Soundararajan, Divyalakshmi; Zuberi, Aamir; Lutz, Cathleen M.; Frankel, Wayne N.; Makinson, Christopher D.
  作者单位：NewYork-Presbyterian Hospital; Columbia University; NewYork-Presbyterian Hospital; Columbia University; Columbia University; NewYork-Presbyterian Hospital; Columbia University; NewYork-Presbyterian Hospital; Jackson Laboratory
  摘要：Developmental and epileptic encephalopathies (DEE) are rare but devastating and largely intractable childhood epilepsies. Genetic variants in ARHGEF9, encoding a scaffolding protein important for the organization of the postsynaptic density of inhibitory synapses, are associated with DEE accompanied by complex neurological phenotypes. In a mouse model carrying a patient- derived ARHGEF9 variant associated with severe disease, we observed aggregation of postsynaptic proteins and loss of functio...
• Propofol- mediated loss of consciousness disrupts predictive routing and local field phase modulation of neural activity AI翻译
  作者：Xiong, Yihan (Sophy); Donoghue, Jacob A.; Lundqvist, Mikael; Mahnke, Meredith; Major, Alex James; Brown, Emery N.; Miller, Earl K.; Bastos, Andre M.
  作者单位：Vanderbilt University; Massachusetts Institute of Technology (MIT); Karolinska Institutet; Harvard University; Harvard Medical School; Harvard University Medical Affiliates; Massachusetts General Hospital; Massachusetts Institute of Technology (MIT); Vanderbilt University
  摘要：Predictive coding is a fundamental function of the cortex. The predictive routing model proposes a neurophysiological implementation for predictive coding. Predictions are fed back from the deep- layer cortex via alpha/beta (8 to 30 Hz) oscillations. They inhibit the gamma (40 to 100 Hz) and spiking that feed sensory inputs forward. Unpredicted inputs arrive in circuits unprepared by alpha/beta, resulting in enhanced gamma and spiking. To test the predictive routing model and its role in consc...
• Akira Endo, who discovered a penicillin for heart attacks (1933 to 2024) AI翻译
  作者：Goldstein, Joseph L.; Brown, Michael S.
  作者单位：University of Texas System; University of Texas Southwestern Medical Center
• Mechanically adaptive and deployable intracortical probes enable long- term neural electrophysiological recordings AI翻译
  作者：Wang, Suhao; Jiang, Qianqian; Liu, Hang; Yu, Chaonan; Li, Pengxian; Pan, Gang; Xu, Kedi; Xiao, Rui; Hao, Yaoyao; Wang, Chengjun; Song, Jizhou
  作者单位：Zhejiang University; Zhejiang University; Zhejiang University; Zhejiang University; Zhejiang University; Zhejiang University; Zhejiang University
  摘要：Flexible intracortical probes offer important opportunities for stable neural interfaces by reducing chronic immune responses, but their advances usually come with challenges of difficult implantation and limited recording span. Here, we reported a mechanically adaptive and deployable intracortical probe, which features a foldable fishbone-like structural design with branching electrodes on a temperature- responsive shape memory polymer (SMP) substrate. Leveraging the temperature- triggered so...
• Increased incidences of cervical ribs in deer indicate extinction risk AI翻译
  作者：Cuxart-Erruz, Raimon; Van Dooren, Tom J. M.; van der Geer, Alexandra A. E.; Galis, Frietson
  作者单位：Naturalis Biodiversity Center; Universite Paris-Est-Creteil-Val-de-Marne (UPEC); Sorbonne Universite; Universite Paris Cite; Centre National de la Recherche Scientifique (CNRS); CNRS - Institute of Ecology & Environment (INEE)
  摘要：Mammals as a rule have seven cervical vertebrae, a number which remains remarkably conserved. Occasional deviations of this number are usually due to the presence of cervical ribs on the seventh vertebra, indicating a homeotic transformation from a cervical rib- less vertebra into a thoracic rib- bearing vertebra. These transformations are often associated with major congenital abnormalities or pediatric cancers (pleiotropic effects) that are, at least in humans, strongly selected against. Bas...
• Mesophyll airspace unsaturation drives C4 plant success under vapor pressure deficit stress AI翻译
  作者：Marquez, Diego A.; Wong, Suan Chin; Stuart-Williams, Hilary; Cernusak, Lucas A.; Farquhar, Graham D.
  作者单位：Australian National University; University of Birmingham; University of Birmingham; James Cook University
  摘要：A fundamental assumption in plant science posits that leaf air spaces remain vapor saturated, leading to the predominant view that stomata alone control leaf water loss. This concept has been pivotal in photosynthesis and water- use efficiency research. However, recent evidence has refuted this longstanding assumption by providing evidence of unsaturation in the leaf air space of C3 plants under relatively mild vapor pressure deficit (VPD) stress. This phenomenon represents a nonstomatal mecha...
• Transdifferentiation occurs without resetting development- specific DNA methylation, a key determinant of full- function cell identity AI翻译
  作者：Radwan, Ahmed; Eccleston, Jason; Sabag, Ofra; Marcus, Howard; Sussman, Jonathan; Ouro, Alberto; Rahamim, Moran; Azagury, Meir; Azria, Batia; Stanger, Ben Z.; Cedar, Howard; Buganim, Yosef
  作者单位：Hebrew University of Jerusalem; University of Pennsylvania; University of Pennsylvania
  摘要：A number of studies have demonstrated that it is possible to directly convert one cell type to another by factor- mediated transdifferentiation, but in the vast majority of cases, the resulting reprogrammed cells are unable to maintain their new cell identity for prolonged culture times and have a phenotype only partially similar to their endogenous counterparts. To better understand this phenomenon, we developed an analytical approach for better characterizing trans- differentiation- associat...
• Toward a more credible assessment of the credibility of science by many- analyst studies AI翻译
  作者：Auspurg, Katrin; Bruederl, Josef
  作者单位：University of Munich
  摘要：We discuss a relatively new meta- scientific research design: many- analyst studies that attempt to assess the replicability and credibility of research based on largescale observational data. In these studies, a large number of analysts try to answer the same research question using the same data. The key idea is the greater the variation in results, the greater the uncertainty in answering the research question and, accordingly, the lower the credibility of any individual research finding. C...
• cGAS activation in classical dendritic cells causes autoimmunity in TREX1-deficient mice AI翻译
  作者：Li, Tong; Yum, Seoyun; Wu, Junjiao; Li, Minghao; Deng, Yafang; Sun, Lijun; Zuo, Xiaoxia; Chen, Zhijian J.
  作者单位：University of Texas System; University of Texas Southwestern Medical Center; University of Texas System; University of Texas Southwestern Medical Center; Central South University; Central South University; Howard Hughes Medical Institute
  摘要：Detection of cytosolic DNA by the cyclic GMP-AMP (cGAMP) synthase (cGAS)- stimulator of interferon genes (STING) pathway provides immune defense against pathogens and cancer but can also cause autoimmunity when overactivated. The exonuclease three prime repair exonuclease 1 (TREX1) degrades DNA in the cytosol and prevents cGAS activation by self- DNA. Loss- of- function mutations of the TREX1 gene are linked to autoimmune diseases such as Aicardi-Gouti & egrave;res syndrome, and mice deficient...
• MINFLUX reveals dynein stepping in live neurons AI翻译
  作者：Schleske, Jonas M.; Hubrich, Jasmine; Wirth, Jan Otto; D'Este, Elisa; Engelhardt, Johann; Hell, Stefan W.
  作者单位：Max Planck Society
  摘要：Dynein is the primary molecular motor responsible for retrograde intracellular transport of a variety of cargoes, performing successive nanometer- sized steps within milliseconds. Due to the limited spatiotemporal precision of established methods for molecular tracking, current knowledge of dynein stepping is essentially limited to slowed- down measurements in vitro. Here, we use MINFLUX fluorophore localization to directly track CRISPR/Cas9- tagged endogenous dynein with nanometer/millisecond...