检索结果-内蒙古大学图书馆

Polyvalvular Dysplasia and Vascular Abnormalities in a Neonate With an FLNA Variant

JACC: Case Reports 2024年第18期29卷 102556-102556页

作者： Frenkel, Amy Frenkel, Max Schulte, Jefree J. Srinivasan, Shardha Lamers, Luke School of Medicine and Public Health University of Wisconsin Madison WI United States Cellular and Molecular Biology Graduate Program University of Wisconsin Madison WI United States Medical Scientist Training Program University of Wisconsin Madison WI United States Department of Pathology and Laboratory Medicine School of Medicine and Public Health University of Wisconsin Madison WI United States Division of Cardiology Department of Pediatrics School of Medicine and Public Health University of Wisconsin Madison WI United States

There is growing appreciation for inherited structural heart diseases and their genetic causes. One causal gene for congenital cardiac and vascular lesions is FLNA which encodes a critical protein for cytoskeletal and extracellular matrix development. A newborn infant male, with prenatally diagnosed polyvalvular dysfunction, presented with low cardiac output and postnatally detected aortic arch hypoplasia and coarctation. Attempted palliative coarctation intervention resulted in vascular complications that ultimately contributed to his demise. This case report highlights polyvalvular dysplasia, vascular abnormalities, and a likely causal de novo missense variant in the FLNA gene (c.5180 C>T p.P1727L) not previously described. © 2024 The Authors

关键词： cardiac catheterization filamin A variant effect prediction vasculopathy

来源：评论

学校读者我要写书评

暂无评论

Microwell-Patterned Microfluidic Device for Rapid Identification of High-Affinity Anti-Tumor T Cells

Microwell-Patterned Microfluidic Device for Rapid Identifica...

引用

IEEE International Conference on Micro Electro Mechanical Systems

作者： Kavya L. Singampalli Desh Deepak Dixit Peixin Jiang Alexandre Reuben Peter B. Lillehoj Department of Bioengineering Rice University Houston TX USA Medical Scientist Training Program Baylor College of Medicine Houston TX USA Department of Mechanical Engineering Rice University Houston TX USA Department of Thoracic/ Head and Neck Medical Oncology The University of Texas MD Anderson Cancer Center Houston TX USA The University of Texas MD Anderson Cancer Center UT Health Houston Graduate School of Biomedical Sciences Houston TX USA

This paper presents a microfluidic device for the rapid identification of high-affinity anti-tumor T cells. This device consists of a polymethyl methacrylate (PMMA) microchannel containing a dense array of circular microwells fabricated using a unique CO 2 laser etching process. Using this device, OT-I T cells and LLC-OVA tumor cells were incubated within microwells to identify high-affinity T cells in <1 hour, which is significantly faster than existing T cell screening methods (requiring weeks/months) while being simpler to operate without requiring sophisticated instrumentation. Furthermore, this method is compatible with adherent and nonadherent tumor cells, making it a versatile platform for T cell-tumor cell interaction studies and T cell screening.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Machine learning identification of enhancers in the rhesus macaque genome

引用

Neuron 2025年第10期113卷 1548-1561.e8页

作者： He, Jing Phan, BaDoi N. Kerkhoff, Willa G. Alikaya, Aydin Hong, Tao Brull, Olivia R. Fredericks, J. Megan Sedorovitz, Morgan Srinivasan, Chaitanya Leone, Michael J. Wirfel, Olivia M. Brown, Ashley Dauby, Samuel Tittle, Rachel K. Lin, Meng K. Hooks, Bryan M. Bostan, Andreea C. Gharbawie, Omar A. Byrne, Leah C. Pfenning, Andreas R. Stauffer, William R. Department of Neurobiology University of Pittsburgh Pittsburgh 15213 PA United States Computational Biology Department Carnegie Mellon University Pittsburgh 15213 PA United States Neuroscience Institute Carnegie Mellon University Pittsburgh 15213 PA United States University of Pittsburgh-Carnegie Mellon University Medical Scientist Training Program Pittsburgh 15213 PA United States Program in Neural Computation Carnegie Mellon University Pittsburgh 15213 PA United States Department of Ophthalmology University of Pittsburgh Pittsburgh 15213 PA United States

Nonhuman primate (NHP) neuroanatomy and cognitive complexity make NHPs ideal models to study human neurobiology and disease. However, NHP circuit-function investigations are limited by the availability of molecular reagents that are effective in NHPs. This calls for reagent development approaches that prioritize NHPs. Therefore, we derived enhancers from the NHP genome. We defined cell-type-specific open chromatin regions (OCRs) in single-cell data from rhesus macaques. We trained machine-learning models to rank those OCRs according to their potential as cell-type-specific enhancers for cells in the dorsolateral prefrontal cortex (DLPFC). We packaged the top-ranked layer-3-pyramidal-neuron enhancer into AAV and injected it into the macaque DLPFC. Expression was mostly restricted to layers 2 and 3 and confirmed with light-driven activation of channelrhodopsin. These results provide a crucial tool for studying the causal functions of DLPFC and provide a roadmap for optimized gene delivery in primates. © 2025 The Authors

关键词： AAV cell types cell-type-specific cognition DLPFC dorsolateral prefrontal cortex enhancer machine learning optogenetics rhesus monkey

来源：评论

学校读者我要写书评

暂无评论

Computational design of serine hydrolases

引用

Science (New York, N.Y.) 2025年第6744期388卷 eadu2454页

作者： Lauko, Anna Pellock, Samuel J. Sumida, Kiera H. Anishchenko, Ivan Juergens, David Ahern, Woody Jeung, Jihun Shida, Alexander F. Hunt, Andrew Kalvet, Indrek Norn, Christoffer Humphreys, Ian R. Jamieson, Cooper Krishna, Rohith Kipnis, Yakov Kang, Alex Brackenbrough, Evans Bera, Asim K. Sankaran, Banumathi Houk, K.N. Baker, David Department of Biochemistry University of Washington Seattle WA United States Institute for Protein Design University of Washington Seattle WA United States Graduate Program in Biological Physics Structure and Design University of Washington Seattle WA United States Department of Chemistry University of Washington Seattle WA United States Graduate Program in Molecular Engineering University of Washington Seattle WA United States Paul G. Allen School of Computer Science and Engineering University of Washington Seattle WA United States Medical Scientist Training Program University of Washington Seattle WA United States Howard Hughes Medical Institute University of Washington Seattle WA United States Department of Chemistry and Biochemistry University of California Los Angeles CA United States

The design of enzymes with complex active sites that mediate multistep reactions remains an outstanding challenge. With serine hydrolases as a model system, we combined the generative capabilities of RFdiffusion with an ensemble generation method for assessing active site preorganization at each step in the reaction to design enzymes starting from minimal active site descriptions. Experimental characterization revealed catalytic efficiencies (kcat/Km) up to 2.2 × 105 M-1 s-1 and crystal structures that closely match the design models (Cα root mean square deviations <1 angstrom). Selection for structural compatibility across the reaction coordinate enabled identification of new catalysts remove with five different folds distinct from those of natural serine hydrolases. Our de novo approach provides insight into the geometric basis of catalysis and a roadmap for designing enzymes that catalyze multistep transformations.

关键词：

来源：评论

学校读者我要写书评

暂无评论

BPS2025 - Disaggregation of biomolecular condensates by molecular chaperones is heterogeneous at the single-condensate level

引用

Biophysical Journal 2025年第3期124卷 415a-415a页

作者： Diangen Lin Kyle M. Lin David A. Drummond Allison H. Squires Harvard Graduate Program in Biophysics Harvard University Cambridge MA USA Graduate Program in Biophysical Sciences Medical Scientist Training Program University of Chicago Chicago IL USA Department of Biochemistry and Molecular Biology and Department of Medicine Section of Genetic Medicine University of Chicago Chicago IL USA Pritzker School of Molecular Engineering University of Chicago Chicago IL USA

来源：评论

学校读者我要写书评

暂无评论

Correction to: Multistate and functional protein design using RoseTTAFold sequence space diffusion (Nature Biotechnology, (2024), 10.1038/s41587-024-02395-w)

引用

Nature Biotechnology 2024年

作者： Lisanza, Sidney Lyayuga Gershon, Jacob Merle Tipps, Samuel W. K. Sims, Jeremiah Nelson Arnoldt, Lucas Hendel, Samuel J. Simma, Miriam K. Liu, Ge Yase, Muna Wu, Hongwei Tharp, Claire D. Li, Xinting Kang, Alex Brackenbrough, Evans Bera, Asim K. Gerben, Stacey Wittmann, Bruce J. McShan, Andrew C. Baker, David Department of Biochemistry University of Washington SeattleWA United States Institute for Protein Design University of Washington SeattleWA United States Graduate Program in Biological Physics Structure and Design University of Washington SeattleWA United States Department of Molecular Engineering University of Washington SeattleWA United States Molecular & amp Cellular Biology Medical Scientist Training Program University of Washington SeattleWA United States Faculty of Engineering Sciences Heidelberg University Heidelberg Germany School of Chemistry and Biochemistry Georgia Institute of Technology AtlantaGA United States Office of the Chief Scientific Officer Microsoft RedmondWA United States Howard Hughes Medical Institute University of Washington SeattleWA United States

Correction to: Nature Biotechnologyhttps://***/10.1038/s41587-024-02395-w, published online 25 September 2024. In the version of the article initially published, in the key to Fig. 2f the colors were swapped and have now been amended so that "W guidance" is purple and "Unconditional" is grey. In Fig. 5a, the color of "Child B" has been corrected from pink to purple, and in Fig. 5d, "β-helix" has now been amended to "β-sheet". These corrections have been made to the HTML and PDF versions of the article. © The Author(s) 2024.

关键词：

来源：评论

学校读者我要写书评

暂无评论

RHOA deficiency drives decreased CD19 expression and immune dysregulation in CAR-T resistant diffuse large B-cell lymphoma

引用

Hematological Oncology 2023年第S2期41卷

作者： A. Newsam C. Coughlin Y. Goretsky A. Sondhi E. Roberts D. Bilbao B. Ziccheddu P. Manera F. Maura J. Schatz University of Miami Miller School of Medicine Medical Scientist Training Program Miami USA University of Miami Miller School of Medicine Medicine Miami USA University of Miami Miller School of Medicine Cancer Biology Graduate Program Miami USA

来源：评论

学校读者我要写书评

暂无评论

Correction to: Droplet Hi-C enables scalable, single-cell profiling of chromatin architecture in heterogeneous tissues (Nature Biotechnology, (2024), 10.1038/s41587-024-02447-1)

引用

Nature Biotechnology 2025年

作者： Chang, Lei Xie, Yang Taylor, Brett Wang, Zhaoning Sun, Jiachen Armand, Ethan J. Mishra, Shreya Xu, Jie Tastemel, Melodi Lie, Audrey Gibbs, Zane A. Indralingam, Hannah S. Tan, Tuyet M. Bejar, Rafael Chen, Clark C. Furnari, Frank B. Hu, Ming Ren, Bing Department of Cellular and Molecular Medicine University of California San Diego La JollaCA United States Biomedical Sciences Graduate Program University of California San Diego La JollaCA United States Medical Scientist Training Program University of California San Diego La JollaCA United States Department of Quantitative Health Sciences Lerner Research Institute Cleveland Clinic Foundation ClevelandOH United States Systems Biology and Bioinformatics PhD Program Case Western Reserve University School of Medicine ClevelandOH United States Bioinformatics and Systems Biology Program University of California San Diego La JollaCA United States Moores Cancer Center UC San Diego La JollaCA United States Department of Neurosurgery University of Minnesota MinneapolisMN United States Department of Medicine University of California San Diego School of Medicine La JollaCA United States Center for Epigenomics Institute for Genomic Medicine School of Medicine University of California San Diego La JollaCA United States

Correction to: Nature Biotechnologyhttps://***/10.1038/s41587-024-02447-1, published online 18 October 2024. In the version of the article initially published, in the Methods section, both mentions of "MboII" should have read "MboI (NEB, R0147M)" and have now been corrected in the HTML and PDF versions of the article. © The Author(s) 2025.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Effects of perinatal iron deficiency on spinal dorsal horn circuits

引用

The journal of pain 2025年 32卷 105434页

作者： Judy J Yoo Elizabeth K Serafin Mark L Baccei Medical Scientist Training Program and Neuroscience Graduate Program University of Cincinnati College of Medicine 231 Albert Sabin Way Cincinnati OH 45267 USA Pain Research Center Department of Anesthesiology University of Cincinnati Medical Center 231 Albert Sabin Way Cincinnati OH 45267 USA. Pain Research Center Department of Anesthesiology University of Cincinnati Medical Center 231 Albert Sabin Way Cincinnati OH 45267 USA. Electronic address: mark.baccei@uc.edu.

Clinical association studies have identified early life iron deficiency (ID) as a risk factor for the development of chronic pain. ID during the perinatal period has long-term consequences for the developing nervous system. Mounting evidence from both clinical and preclinical studies suggests that ID alters pain perception. However, nothing is yet known about how perinatal ID impacts nociceptive circuitry. The present study sought to characterize the effects of ID on the spinal superficial dorsal horn (SDH). Using ex vivo patch clamp electrophysiology in a mouse model of perinatal ID, the excitability of inhibitory and putative excitatory interneurons in the SDH was measured. It was found that early life ID did not significantly change the intrinsic excitability of either interneuron cell type in adolescence or adulthood. The investigation of synaptic inputs onto these two populations revealed that ID modulates spontaneous glutamatergic transmission within the SDH, but did not affect the excitatory drive or balance of synaptic excitation and inhibition. Interestingly, while ID altered the pattern of primary afferent inputs onto presumed glutamatergic interneurons in the mature SDH, the overall efficacy of these synapses was not affected by ID. Collectively, these results suggest that spinal nociceptive circuits are resilient to change following perinatal ID. PERSPECTIVE: This study demonstrates that perinatal iron deficiency (ID) elicits few changes to the intrinsic membrane excitability of superficial dorsal horn neurons or the efficacy of their synaptic inputs. These findings represent a critical first step towards elucidating the effects of ID on nociceptive processing in the central nervous system.

关键词： development electrophysiology nociception spinal cord synaptic transmission

来源：评论

学校读者我要写书评

暂无评论

Integrated information theory (IIT) 4.0: Formulating the properties of phenomenal existence in physical terms

引用

PLoS Computational Biology 2023年第10 October期19卷 e1011465-e1011465页

作者： Albantakis, Larissa Barbosa, Leonardo Findlay, Graham Grasso, Matteo Haun, Andrew M. Marshall, William Mayner, William G.P. Zaeemzadeh, Alireza Boly, Melanie Juel, Bjørn E. Sasai, Shuntaro Fujii, Keiko David, Isaac Hendren, Jeremiah Lang, Jonathan P. Tononi, Giulio Department of Psychiatry University of Wisconsin MadisonWI United States Fralin Biomedical Research Institute at VTC Virginia Tech RoanokeVA United States Neuroscience Training Program University of Wisconsin MadisonWI United States Department of Mathematics and Statistics Brock University St. CatharinesON Canada Department of Neurology University of Wisconsin MadisonWI United States Institute of Basic Medical Sciences University of Oslo Oslo Norway Araya Inc Tokyo Japan Graduate School Language & Literature Ludwig Maximilian University of Munich Munich Germany

This paper presents Integrated Information Theory (IIT) 4.0. IIT aims to account for the properties of experience in physical (operational) terms. It identifies the essential properties of experience (axioms), infers the necessary and sufficient properties that its substrate must satisfy (postulates), and expresses them in mathematical terms. In principle, the postulates can be applied to any system of units in a state to determine whether it is conscious, to what degree, and in what way. IIT offers a parsimonious explanation of empirical evidence, makes testable predictions concerning both the presence and the quality of experience, and permits inferences and extrapolations. IIT 4.0 incorporates several developments of the past ten years, including a more accurate formulation of the axioms as postulates and mathematical expressions, the introduction of a unique measure of intrinsic information that is consistent with the postulates, and an explicit assessment of causal relations. By fully unfolding a system’s irreducible cause–effect power, the distinctions and relations specified by a substrate can account for the quality of experience. Copyright: © 2023 Albantakis et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

关键词： Information theory

来源：评论

学校读者我要写书评

暂无评论

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案：

请选择收藏分类：

通借通还

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：