6763期

最新文章

• Machine learning-based penetrance of genetic variants AI翻译
  作者：Forrest, Iain S.; Vy, Ha My T.; Rocheleau, Ghislain; Jordan, Daniel M.; Petrazzini, Ben O.; Nadkarni, Girish N.; Cho, Judy H.; Ganapathi, Mythily; Huang, Kuan-Lin; Chung, Wendy K.; Do, Ron
  作者单位：Icahn School of Medicine at Mount Sinai; Icahn School of Medicine at Mount Sinai; Icahn School of Medicine at Mount Sinai; Icahn School of Medicine at Mount Sinai; Icahn School of Medicine at Mount Sinai; Columbia University; NewYork-Presbyterian Hospital; Harvard University; Harvard University Medical Affiliates; Boston Children's Hospital; Harvard Medical School
  摘要：Accurate variant penetrance estimation is crucial for precision medicine. We constructed machine learning (ML) models for 10 diseases using 1,347,298 participants with electronic health records, then applied them to an independent cohort with linked exome data. Resulting probabilities were used to evaluate ML penetrance of 1648 rare variants in 31 autosomal dominant disease-predisposition genes. ML penetrance was variable across variant classes, but highest for pathogenic and loss-of-function ...
• Vegetation changes the trajectory of river bends AI翻译
  作者：Hasson, Michael; Finotello, Alvise; Ielpi, Alessandro; Lapotre, Mathieu G. A.
  作者单位：Stanford University; University of Padua; University of British Columbia
  摘要：A primary axiom in geoscience is that the evolution of plants drove global changes in river dynamics. Notably, the apparent sinuosity of rivers, derived from the variance of sediment accretion direction measured in rocks, substantially increased when land plants evolved, around 425 million years ago. This led to the hypothesis that the rise of vegetation triggered river meandering. Recent studies of barren, meandering rivers challenge this notion, but the Paleozoic shift in the geometry of riv...
• Classical-decisive quantum internet by integrated photonics AI翻译
  作者：Zhang, Yichi; Broberg, Robert; Zhu, Alan; Li, Gushu; Ge, Li; Smith, Jonathan M.; Feng, Liang
  作者单位：University of Pennsylvania; University of Pennsylvania; University of Pennsylvania; City University of New York (CUNY) System; College of Staten Island (CUNY); City University of New York (CUNY) System
  摘要：Classical and quantum technologies have traditionally been viewed as orthogonal, with classical systems being deterministic and quantum systems inherently probabilistic. This distinction hinders the development of a scalable quantum internet even as the global internet continues expanding. We report a classical-decisive quantum internet architecture in which the integration of quantum information into advanced photonic technologies enables efficient entanglement distribution over a commerciall...
• Selection at the GSDMC locus in horses and its implications for human mobility AI翻译
  作者：Liu, Xuexue; Jia, Yaozhen; Pan, Jianfei; Zhang, Yanli; Gong, Ying; Wang, Xintong; Ma, Yuehui; Alvarez, Nadir; Jiang, Lin; Orlando, Ludovic
  作者单位：Centre National de la Recherche Scientifique (CNRS); Universite de Toulouse; Universite Toulouse III - Paul Sabatier; Chinese Academy of Agricultural Sciences; University of Geneva; University of Lausanne
  摘要：Horsepower revolutionized human history through enhanced mobility, transport, and warfare. However, the suite of biological traits that reshaped horses during domestication remains unclear. We scanned an extensive horse genome time series for selection signatures at 266 markers associated with key traits. We detected a signature of positive selection at ZFPM1-known to be a modulator of behavior in mice-occurring similar to 5000 years ago (ya), suggesting that taming was one of the earliest ste...
• Seismic evidence for a highly heterogeneous martian mantle AI翻译
  作者：Charalambous, Constantinos; Pike, W. Thomas; Kim, Doyeon; Samuel, Henri; Fernando, Benjamin; Bill, Carys; Lognonne, Philippe; Banerdt, W. Bruce
  作者单位：Imperial College London; Imperial College London; Universite Paris Cite; Centre National de la Recherche Scientifique (CNRS); Johns Hopkins University; University of Oxford; University of Oxford; California Institute of Technology; National Aeronautics & Space Administration (NASA); NASA Jet Propulsion Laboratory (JPL)
  摘要：A planet's interior is a time capsule, preserving clues to its early history. We report the discovery of kilometer-scale heterogeneities throughout Mars' mantle, detected seismically through pronounced wavefront distortion of energy arriving from deeply probing marsquakes. These heterogeneities, likely remnants of the planet's formation, imply a mantle that has undergone limited mixing driven by sluggish convection. Their size and survival constrain Mars' poorly known mantle rheology, indicati...
• Architecture of the UBR4 complex, a giant E4 ligase central to eukaryotic protein quality control AI翻译
  作者：Grabarczyk, Daniel B.; Ehrmann, Julian F.; Murphy, Paul; Yang, Woo Seok; Kurzbauer, Robert; Bell, Lillie E.; Deszcz, Luiza; Neuhold, Jana; Schleiffer, Alexander; Shulkina, Alexandra; Lee, Juyeon; Shin, Jin Seok; Meinhart, Anton; Versteeg, Gijs A.; Zavodszky, Eszter; Song, Hyun Kyu; Hegde, Ramanujan S.; Clausen, Tim
  作者单位：Vienna Biocenter (VBC); Research Institute of Molecular Pathology (IMP); Vienna Biocenter (VBC); Medical University of Vienna; University of Vienna; Vienna Biocenter (VBC); Medical University of Vienna; Korea University; Vienna Biocenter (VBC); Medical University of Vienna; University of Vienna; Vienna Biocenter (VBC); Max F. Perutz Laboratories (MFPL); University of Vienna; MRC Laboratory Molecular Biology; Medical University of Vienna; Harvard University; Harvard Medical School; Harvard University; Harvard University Medical Affiliates; Boston Children's Hospital
  摘要：Eukaryotic cells have evolved sophisticated quality control mechanisms to eliminate aggregation-prone proteins that compromise cellular health. Central to this defense is the ubiquitin-proteasome system, where UBR4 acts as an essential E4 ubiquitin ligase, amplifying degradation marks on defective proteins. Cryo-electron microscopy analysis of UBR4 in complex with its cofactors KCMF1 and CALM1 reveals a massive 1.3-megadalton ring structure, featuring a central substrate-binding arena and flex...
• Secondary organic aerosol in urban China: A distinct chemical regime for air pollution studies AI翻译
  作者：Huang, Ru-Jin; Li, Yong Jie; Chen, Qi; Zhang, Yanli; Lin, Chunshui; Chan, Chak K.; Yu, Jian Zhen; de Gouw, Joost; Tong, Shengrui; Jiang, Jingkun; Wang, Weigang; Ding, Xiang; Wang, Xinming; Ge, Maofa; Zhou, Weijian; Worsnop, Doug; Boy, Michael; Bilde, Merete; Dusek, Ulrike; Carlton, Annmarie G.; Hoffmann, Thorsten; McNeill, V. Faye; Glasius, Marianne
  作者单位：Chinese Academy of Sciences; Institute of Earth Environment, CAS; Xi'an Jiaotong University; Chinese Academy of Sciences; University of Chinese Academy of Sciences, CAS; University of Macau; University of Macau; Peking University; Chinese Academy of Sciences; Guangzhou Institute of Geochemistry, CAS; Chinese Academy of Sciences; Guangzhou Institute of Geochemistry, CAS; Hong Kong University of Science & Technology; Hong Kong University of Science & Technology; King Abdullah University of Science & Technology; University of Colorado System; University of Colorado Boulder; Chinese Academy of Sciences; Institute of Chemistry, CAS; Tsinghua University; Aerodyne Research; University of Helsinki; Lappeenranta-Lahti University of Technology LUT; Aarhus University; University of Groningen; University of California System; University of California Irvine; Johannes Gutenberg University of Mainz; Columbia University; Columbia University
  摘要：In the past decades, China has witnessed high air pollution associated with rapid economic development, although regulatory efforts have alleviated the situation since 2013. Haze events characterized by high particulate matter (PM) levels in China are not only of enormous magnitude but also represent a distinct chemical regime. Once driven by direct emissions, these high-PM episodes are now more affected by secondary aerosol, especially secondary organic aerosol (SOA). This Review synthesizes ...
• Academic leadership in uncertain times AI翻译
  作者：Elrod, Susan
  作者单位：Indiana University System; Indiana University South Bend
• Transcription factors SP5 and SP8 drive primary cilia formation in mammalian embryos AI翻译
  作者：Liang, Yinwen; Koche, Richard; Chalamalasetty, Ravindra B.; Stephen, Daniel N.; Kennedy, Mark W.; Lao, Zhimin; Pang, Yunong; Kuo, Ying-Yi; Lee, Moonsup; Lobo, Francisco Pereira; Huang, Xiaofeng; Hadjantonakis, Anna-Katerina; Yamaguchi, Terry P.; Anderson, Kathryn V.; Joyner, Alexandra L.
  作者单位：Memorial Sloan Kettering Cancer Center; Memorial Sloan Kettering Cancer Center; National Institutes of Health (NIH) - USA; NIH National Cancer Institute (NCI); Cornell University; Weill Cornell Medicine; Cornell University; Weill Cornell Medicine; Cornell University; Cornell University
  摘要：Although specific transcription factors (TFs) are known to regulate cell fate decisions, the degree to which they can stimulate formation of specific cell organelles is less clear. We used a multiomics comparison of the transcriptomes of ciliated and unciliated embryonic cells to identify TFs up-regulated in ciliated cells. We also used conditional genetics in mouse embryos and stem cells and found that the TFs SP5 and SP8 regulate cilia formation and gene expression. In embryos lacking Sp5 an...
• Mapping the anatomy of placebo analgesia AI翻译
  作者：Moayedi, Massieh; Atlas, Lauren Y.
  作者单位：University of Toronto; University of Toronto; University of Toronto; University Health Network Toronto; Krembil Research Institute; National Institutes of Health (NIH) - USA; National Institutes of Health (NIH) - USA; NIH National Institute of Mental Health (NIMH); National Institutes of Health (NIH) - USA; NIH National Institute on Aging (NIA); NIH National Institute on Drug Abuse (NIDA)