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Correction : IL-1R1 signaling in TBI: assessing chronic impacts and neuroinflammatory dynamics in a mouse model of mild closed-head injury

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Journal of neuroinflammation 2023年第1期20卷 287页

作者： Jonathan C Vincent Colleen N Garnett James B Watson Emma K Higgins Teresa Macheda Lydia Sanders Kelly N Roberts Ryan K Shahidehpour Eric M Blalock Ning Quan Adam D Bachstetter Department of Neuroscience University of Kentucky 741 S. Limestone St. Lexington KY 40536 USA. Spinal Cord and Brain Injury Research Center University of Kentucky Lexington KY USA. Sanders‑Brown Center on Aging University of Kentucky Lexington KY USA. MD/PhD Program University of Kentucky Lexington KY USA. Department of Cell Developmental and Integrative Biology University of Alabama at Birmingham Birmingham AL USA. Department of Pharmacology and Nutritional Sciences University of Kentucky Lexington KY USA. Department of Biomedical Science Charles E. Schmidt College of Medicine and Brain Institute Florida Atlantic University Jupiter FL USA. Department of Neuroscience University of Kentucky 741 S. Limestone St. Lexington KY 40536 USA. adam.bachstetter@uky.edu. Spinal Cord and Brain Injury Research Center University of Kentucky Lexington KY USA. adam.bachstetter@uky.edu. Sanders‑Brown Center on Aging University of Kentucky Lexington KY USA. adam.bachstetter@uky.edu.

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Publisher Correction: Ageing limits stemness and tumorigenesis by reprogramming iron homeostasis

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Nature 2025年 2025 May 22页

作者： Xueqian Zhuang Qing Wang Simon Joost Alexander Ferrena David T Humphreys Zhuxuan Li Melissa Blum Klavdija Krause Selena Ding Yuna Landais Yingqian Zhan Yang Zhao Ronan Chaligne Joo-Hyeon Lee Sebastian E Carrasco Umeshkumar K Bhanot Richard P Koche Matthew J Bott Pekka Katajisto Yadira M Soto-Feliciano Thomas Pisanic Tiffany Thomas Deyou Zheng Emily S Wong Tuomas Tammela Cancer Biology and Genetics Program Sloan Kettering Institute Memorial Sloan Kettering Cancer Center New York NY USA. Victor Chang Cardiac Research Institute Sydney New South Wales Australia. Institute for Clinical and Translational Research Albert Einstein College of Medicine New York NY USA. Weill Cornell Graduate School of Medical Science Weill Cornell Medicine New York NY USA. Center for Epigenetics Research Memorial Sloan Kettering Cancer Center New York NY USA. Department of Biomedical Engineering Johns Hopkins University Baltimore MD USA. Computational and Systems Biology Program Sloan Kettering Institute Memorial Sloan Kettering Cancer Center New York NY USA. Wellcome-MRC Cambridge Stem Cell Institute Jeffrey Cheah Biomedical Centre University of Cambridge Cambridge UK. Department of Physiology Development and Neuroscience University of Cambridge Cambridge UK. Laboratory of Comparative Pathology Weill Cornell Medicine Memorial Sloan Kettering Cancer Center and Rockefeller University New York NY USA. Pathology Core Facility Department of Pathology Memorial Sloan Kettering Cancer Center New York NY USA. Institute of Biotechnology HiLIFE University of Helsinki Helsinki Finland. Department of Cell and Molecular Biology Karolinska Institute Stockholm Sweden. Faculty of Biological and Environmental Sciences University of Helsinki Helsinki Finland. David H. Koch Institute for Integrative Cancer Research Massachusetts Institute of Technology Cambridge MA USA. Department of Biology Massachusetts Institute of Technology Cambridge MA USA. Institute for NanoBioTechnology Department of Oncology-Cancer Genetics and Epigenetics Johns Hopkins University Baltimore MD USA. Department of Pathology and Cell Biology Columbia University College of Physicians and Surgeons New York NY USA. Departments of Genetics Neurology and Neuroscience Albert Einstein College of Medicine New York NY USA. School of Biotechnology and Biomolecular Sciences UNSW Sy

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TET proteins safeguard bivalent promoters from de novo methylation in human embryonic stem cells (vol 50, pg 83, 2017)

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NATURE GENETICS 2018年第5期50卷 764-764页

作者： Verma, Nipun Pan, Heng Dore, Louis C. Shukla, Abhijit Li, Qing V. Pelham-Webb, Bobbie Teijeiro, Virginia Gonzalez, Federico Krivtsov, Andrei Chang, Chan-Jung Papapetrou, Eirini P. He, Chuan Elemento, Olivier Huangfu, Danwei Developmental Biology Program Sloan Kettering Institute New York NY USA Weill Graduate School of Medical Sciences at Cornell University/The Rockefeller University/Sloan Kettering Institute Tri-Institutional MD-PhD Program New York NY USA Department of Physiology and Biophysics Englander Institute for Precision Medicine Institute for Computational Biomedicine Weill Cornell Medical College New York NY USA Weill Cornell Graduate School of Medical Sciences Weill Cornell Medical College New York NY USA Department of Chemistry Department of Biochemistry and Molecular Biology Institute for Biophysical Dynamics Howard Hughes Medical Institute University of Chicago Chicago IL USA Louis V. Gerstner Jr. Graduate School of Biomedical Sciences Memorial Sloan Kettering Cancer Center New York NY USA Cancer Biology and Genetics Program Sloan Kettering Institute New York NY USA Department of Oncological Sciences and Black Family Stem Cell Institute Icahn School of Medicine at Mount Sinai New York NY USA

TET enzymes oxidize 5-methylcytosine (5mC) to 5-hydroxymethylcytosine (5hmC), which can lead to DNA demethylation. However, direct connections between TET-mediated DNA demethylation and transcriptional output are difficult to establish owing to challenges in distinguishing global versus locus-specific effects. Here we show that TET1, TET2 and TET3 triple-knockout (TKO) human embryonic stem cells (hESCs) exhibit prominent bivalent promoter hypermethylation without an overall corresponding decrease in gene expression in the undifferentiated state. Focusing on the bivalent PAX6 locus, we find that increased DNMT3B binding is associated with promoter hypermethylation, which precipitates a neural differentiation defect and failure of PAX6 induction during differentiation. dCas9-mediated locus-specific demethylation and global inactivation of DNMT3B in TKO hESCs partially reverses the hypermethylation at the PAX6 promoter and improves differentiation to neuroectoderm. Taking these findings together with further genome-wide methylation and TET1 and DNMT3B ChIP-seq analyses, we conclude that TET proteins safeguard bivalent promoters from de novo methylation to ensure robust lineage-specific transcription upon differentiation.

关键词： Epigenetics Stem cells

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (vol 111, pg 96, 2024)

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AMERICAN JOURNAL OF HUMAN GENETICS 2024年第4期11卷 805-805页

作者： Paul, Maimuna S. Michener, Sydney L. Pan, Hongling Chan, Hiuling Pfliger, Jessica M. Rosenfeld, Jill A. Lerma, Vanesa C. Tran, Alyssa Longley, Megan A. Lewis, Richard A. Weisz-Hubshman, Monika Bekheirnia, Mir Reza Bekheirnia, Nasim Massingham, Lauren Zech, Michael Wagner, Matias Engels, Hartmut Cremer, Kirsten Mangold, Elisabeth Peters, Sophia Trautmann, Jessica Perne, Claudia Mester, Jessica L. Sacoto, Maria J. Guillen Person, Richard McDonnell, Pamela P. Cohen, Stacey R. Lusk, Laina Cohen, Ana S. A. Le Pichon, Jean-Baptiste Pastinen, Tomi Zhou, Dihong Engleman, Kendra Racine, Caroline Faivre, Laurence Moutton, Sebastien Denomme-Pichon, Anne-Sophie Koh, Hyun Yong Poduri, Annapurna Bolton, Jeffrey Knopp, Cordula Suh, Dong Sun Julia Maier, Andrea Toosi, Mehran Beiraghi Karimiani, Ehsan Ghayoor Maroofian, Reza Schaefer, Gerald Bradley Ramakumaran, Vijayalakshmi Vasudevan, Pradeep Banos-Pinero, Benito Pagnamenta, Alistair T. Prasad, Chitra Osmond, Matthew Schuhmann, Sarah Vasileiou, Georgia Russ-Hall, Sophie Scheffer, Ingrid E. Carvill, Gemma L. Mefford, Heather Bacino, Carlos A. Lee, Brendan H. Chao, Hsiao-Tuan Department of Pediatrics Section of Neurology and Developmental Neuroscience Baylor College of Medicine Houston TX USA Jan and Dan Duncan Neurological Research Institute Texas Children’s Hospital Houston TX USA Cain Pediatric Neurology Research Foundation Laboratories Jan and Dan Duncan Neurological Research Institute Houston TX USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Augustana College Rock Island IL USA Summer Undergraduate Research Training (SMART) Program Baylor College of Medicine Houston TX USA Graduate Program in Electrical and Computer Engineering Rice University Houston TX USA Department of Psychology University of Houston Houston TX USA Department of Ophthalmology Baylor College of Medicine Houston TX USA Renal Genetics Clinic Baylor College of Medicine Houston TX USA Rhode Island Hospital and Hasbro Children’s Hospital Providence RI USA Institute of Neurogenomics Helmholtz Zentrum München Munich Germany Institute of Human Genetics School of Medicine Technical University Munich Germany Institute for Advanced Study Technical University of Munich Garching Germany Division of Pediatric Neurology Developmental Neurology and Social Pediatrics Dr. von Hauner Children’s Hospital Munich Germany Institute of Human Genetics School of Medicine University Hospital Bonn University of Bonn Bonn Germany GeneDx Gaithersburg MD USA Epilepsy NeuroGenetics Initiative (ENGIN) Division of Neurology Children’s Hospital of Philadelphia Philadelphia PA USA Department of Neurology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Children’s Mercy Kansas City Genomic Medicine Center The University of Missouri-Kansas City (UMKC) School of Medicine Kansas City MO USA Department of Pediatrics Children’s Mercy Kansas City Kansas City MO USA Children’s Mercy Research Institute Kansas City MO USA Children’s Mercy Hospital Kansas City MO USA University Hospital Dijon Franc

PPFIA3 encodes the protein-tyrosine phosphatase, receptor-type, F-polypeptide-interacting-protein-alpha-3 (PPFIA3), which is a member of the LAR-protein-tyrosine phosphatase-interacting-protein (liprin) family involved in synapse formation and function, synaptic vesicle transport, and presynaptic active zone assembly. The protein structure and function are evolutionarily well conserved, but human diseases related to PPFIA3 dysfunction are not yet reported in OMIM. Here, we report 20 individuals with rare PPFIA3 variants (19 heterozygous and 1 compound heterozygous) presenting with developmental delay, intellectual disability, hypotonia, dysmorphisms, microcephaly or macrocephaly, autistic features, and epilepsy with reduced penetrance. Seventeen unique PPFIA3 variants were detected in 18 families. To determine the pathogenicity of PPFIA3 variants in vivo, we generated transgenic fruit flies producing either human wild-type (WT) PPFIA3 or five missense variants using GAL4-UAS targeted gene expression systems. In the fly overexpression assays, we found that the PPFIA3 variants in the region encoding the N-terminal coiled-coil domain exhibited stronger phenotypes compared to those affecting the C-terminal region. In the loss-of-function fly assay, we show that the homozygous loss of fly Liprin-α leads to embryonic lethality. This lethality is partially rescued by the expression of human PPFIA3 WT, suggesting human PPFIA3 function is partially conserved in the fly. However, two of the tested variants failed to rescue the lethality at the larval stage and one variant failed to rescue lethality at the adult stage. Altogether, the human and fruit fly data reveal that the rare PPFIA3 variants are dominant-negative loss-of-function alleles that perturb multiple developmental processes and synapse formation.

关键词： neurodevelopmental disorder synaptic protein active zone protein Mendelian phenotypes fruit flies

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Corrigendum to "Early life neuroimmune challenge protects the brain after sepsis in adult rats" [Neurochem. Int. 2020 May 135 104712]

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Neurochemistry international 2020年 137卷 104732页

作者： Drielly Florentino Amanda Della Giustina Mariana Pereira de Souza Goldim Lucineia Gainski Danielski Aloir Neri de Oliveira Junior Larissa Joaquim Sandra Bonfante Erica Biehl Naiana da Rosa Deisy Fernandes Fernanda Frederico Gava Monique Michels Jucelia Jeremias Fortunato Gislaine Zilli Réus Samira Silva Valvassori Joao Quevedo Felipe Dal-Pizzol Tatiana Barichello Fabricia Petronilho Laboratory of Neurobiology of Inflammatory and Metabolic Processes Graduate Program in Health Sciences Health Sciences Unit University of South Santa Catarina (UNISUL) Tubarão SC Brazil. Translational Psychiatry Laboratory Graduate Program in Health Sciences University of Southern Santa Catarina (UNESC) Criciúma SC Brazil. Laboratory of Experimental Pathophysiology Graduate Program in Health Sciences Health Sciences Unit University of Southern Santa Catarina (UNESC) Criciúma Santa Catarina Brazil. Translational Psychiatry Laboratory Graduate Program in Health Sciences University of Southern Santa Catarina (UNESC) Criciúma SC Brazil Center of Excellence on Mood Disorders Department of Psychiatry and Behavioral Sciences McGovern Medical School The University of Texas Health Science Center at Houston (UTHealth) Houston TX USA Neuroscience Graduate Program The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences Houston TX USA Translational Psychiatry Program Department of Psychiatry and Behavioral Sciences McGovern Medical School The University of Texas Health Science Center at Houston (UTHealth) Houston TX USA. Laboratory of Experimental Pathophysiology Graduate Program in Health Sciences Health Sciences Unit University of Southern Santa Catarina (UNESC) Criciúma Santa Catarina Brazil Center of Excellence on Mood Disorders Department of Psychiatry and Behavioral Sciences McGovern Medical School The University of Texas Health Science Center at Houston (UTHealth) Houston TX USA. Laboratory of Neurobiology of Inflammatory and Metabolic Processes Graduate Program in Health Sciences Health Sciences Unit University of South Santa Catarina (UNISUL) Tubarão SC Brazil. Electronic address: Fabricia.petronilho@unisul.br.

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Accelerated aging with HIV begins at the time of initial HIV infection

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iScience 2022年第7期25卷 104488页

作者： Breen, Elizabeth Crabb Sehl, Mary E. Shih, Roger Langfelder, Peter Wang, Ruibin Horvath, Steve Bream, Jay H. Duggal, Priya Martinson, Jeremy Wolinsky, Steven M. Martínez-Maza, Otoniel Ramirez, Christina M. Jamieson, Beth D. Cousins Center for Psychoneuroimmunology Department of Psychiatry and Biobehavioral Sciences David Geffen School of Medicine at UCLA University of California Los Angeles Los Angeles 90095 CA United States Division of Hematology-Oncology Department of Medicine David Geffen School of Medicine at UCLA University of California Los Angeles Los Angeles 90095 CA United States Center for Neurobehavioral Genetics Jane and Terry Semel Institute for Neuroscience and Human Behavior University of California Los Angeles Los Angeles 90095 CA United States Department of Psychiatry and Biobehavioral Sciences David Geffen School of Medicine at UCLA University of California Los Angeles Los Angeles 90095 CA United States Department of Epidemiology Johns Hopkins Bloomberg School of Public Health Baltimore 21205 MA United States Department of Human Genetics David Geffen School of Medicine at UCLA University of California Los Angeles Los Angeles 90095 CA United States Altos Labs San Diego 92121 CA United States Department of Molecular Microbiology and Immunology Johns Hopkins Bloomberg School of Public Health Graduate Program in Immunology Johns Hopkins School of Medicine Baltimore 21205 MD United States Department of Infectious Diseases and Microbiology Graduate School of Public Health University of Pittsburgh Pittsburgh 15261 PA United States Division of Infectious Diseases Northwestern University Feinberg School of Medicine Chicago 60611 IL United States Departments of Obstetrics & Gynecology and Microbiology Immunology & Molecular Genetics David Geffen School of Medicine at UCLA University of California Los Angeles Los Angeles 90095 CA United States Fielding School of Public Health University of California Los Angeles Los Angeles 90095 CA United States

Living with HIV infection is associated with early onset of aging-related chronic conditions, sometimes described as accelerated aging. Epigenetic DNA methylation patterns can evaluate acceleration of biological age relative to chronological age. The impact of initial HIV infection on five epigenetic measures of aging was examined before and approximately 3 years after HIV infection in the same individuals (n=102). Significant epigenetic age acceleration (median 1.9–4.8 years) and estimated telomere length shortening (all p≤ 0.001) were observed from pre-to post-HIV infection, and remained significant in three epigenetic measures after controlling for T cell changes. No acceleration was seen in age- and time interval-matched HIV-uninfected controls. Changes in genome-wide co-methylation clusters were also significantly associated with initial HIV infection (p≤ 2.0 × 10⁻⁴). These longitudinal observations clearly demonstrate an early and substantial impact of HIV infection on the epigenetic aging process, and suggest a role for HIV itself in the earlier onset of clinical aging. © 2022 The Author(s)

关键词： Epigenetics Human physiology Immunology Virology

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Publisher Correction: Multi-omic analysis of selectively vulnerable motor neuron subtypes implicates altered lipid metabolism in ALS

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Nature neuroscience 2022年第2期25卷 264页

作者： Hojae Lee Jae Jin Lee Na Young Park Sandeep Kumar Dubey Taeyong Kim Kai Ruan Su Bin Lim Seong-Hyun Park Shinwon Ha Irina Kovlyagina Kyung-Tai Kim Seongjun Kim Yohan Oh Hyesoo Kim Sung-Ung Kang Mi-Ryoung Song Thomas E Lloyd Nicholas J Maragakis Young Bin Hong Hyungjin Eoh Gabsang Lee Institute for Cell Engineering Johns Hopkins University School of Medicine Baltimore MD USA. Department of Neurology Johns Hopkins University School of Medicine Baltimore MD USA. The Robert Packard Center Johns Hopkins University School of Medicine Baltimore MD USA. Department of Microbiology and Immunology Keck School of Medicine University of Southern California Los Angeles Los Angeles CA USA. Department of Biochemistry College of Medicine Dong-A University Busan Korea. Department of Translational Biomedical Sciences Graduate School of Dong-A University Busan Korea. The Solomon H. Snyder Department of Neuroscience Johns Hopkins University School of Medicine Baltimore MD USA. Department of Biology San Diego State University San Diego CA USA. Department of Biochemistry and Molecular Biology Ajou University School of Medicine Suwon Korea. Institute of Physiological Chemistry University Medical Center of the Johannes Gutenberg University Mainz Mainz Germany. School of Life Sciences Gwangju Institute of Science and Technology Gwangju Republic of Korea. Jeonbuk Branch Institute Korea Institute of Toxicology Jeongeup Republic of Korea. Department of Biomedical Science Graduate School of Biomedical Science and Engineering Hanyang University Seoul Republic of Korea. Cellular and Molecular Medicine Program School of Medicine Johns Hopkins University Baltimore MD USA. Department of Biochemistry College of Medicine Dong-A University Busan Korea. ybhong@dau.ac.kr. Department of Translational Biomedical Sciences Graduate School of Dong-A University Busan Korea. ybhong@dau.ac.kr. Department of Microbiology and Immunology Keck School of Medicine University of Southern California Los Angeles Los Angeles CA USA. heoh@usc.edu. Institute for Cell Engineering Johns Hopkins University School of Medicine Baltimore MD USA. glee48@jhmi.edu. Department of Neurology Johns Hopkins University School of Medicine Baltimore MD USA. glee48@jhmi.edu. The Robert Packard C

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Association of polygenic score and the involvement of cholinergic and glutamatergic pathways with lithium treatment response in patients with bipolar disorder

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Molecular psychiatry 2023年第12期28卷 5251-5261页

作者： Azmeraw T Amare Anbupalam Thalamuthu Klaus Oliver Schubert Janice M Fullerton Muktar Ahmed Simon Hartmann Sergi Papiol Urs Heilbronner Franziska Degenhardt Fasil Tekola-Ayele Liping Hou Yi-Hsiang Hsu Tatyana Shekhtman Mazda Adli Nirmala Akula Kazufumi Akiyama Raffaella Ardau Bárbara Arias Jean-Michel Aubry Roland Hasler Hélène Richard-Lepouriel Nader Perroud Lena Backlund Abesh Kumar Bhattacharjee Frank Bellivier Antonio Benabarre Susanne Bengesser Joanna M Biernacka Armin Birner Cynthia Marie-Claire Pablo Cervantes Hsi-Chung Chen Caterina Chillotti Sven Cichon Cristiana Cruceanu Piotr M Czerski Nina Dalkner Maria Del Zompo J Raymond DePaulo Bruno Étain Stephane Jamain Peter Falkai Andreas J Forstner Louise Frisen Mark A Frye Sébastien Gard Julie S Garnham Fernando S Goes Maria Grigoroiu-Serbanescu Andreas J Fallgatter Sophia Stegmaier Thomas Ethofer Silvia Biere Kristiyana Petrova Ceylan Schuster Kristina Adorjan Monika Budde Maria Heilbronner Janos L Kalman Mojtaba Oraki Kohshour Daniela Reich-Erkelenz Sabrina K Schaupp Eva C Schulte Fanny Senner Thomas Vogl Ion-George Anghelescu Volker Arolt Udo Dannlowski Detlef Dietrich Christian Figge Markus Jäger Fabian U Lang Georg Juckel Carsten Konrad Jens Reimer Max Schmauß Andrea Schmitt Carsten Spitzer Martin von Hagen Jens Wiltfang Jörg Zimmermann Till F M Andlauer Andre Fischer Felix Bermpohl Philipp Ritter Silke Matura Anna Gryaznova Irina Falkenberg Cüneyt Yildiz Tilo Kircher Julia Schmidt Marius Koch Kathrin Gade Sarah Trost Ida S Haussleiter Martin Lambert Anja C Rohenkohl Vivien Kraft Paul Grof Ryota Hashimoto Joanna Hauser Stefan Herms Per Hoffmann Esther Jiménez Jean-Pierre Kahn Layla Kassem Po-Hsiu Kuo Tadafumi Kato John Kelsoe Sarah Kittel-Schneider Ewa Ferensztajn-Rochowiak Barbara König Ichiro Kusumi Gonzalo Laje Mikael Landén Catharina Lavebratt Marion Leboyer Susan G Leckband Alfonso Tortorella Mirko Manchia Lina Martinsson Michael J McCarthy Susan McElroy Francesc Colom Vincent Millischer Marina Mitjans Francis M Mondimore Palmiero Monteleone Caroline Discipline of Psychiatry School of Medicine University of Adelaide Adelaide SA Australia. azmeraw.amare@adelaide.edu.au. Centre for Healthy Brain Ageing (CHeBA) Discipline of Psychiatry and Mental Health UNSW Medicine & Health University of New South Wales Sydney Australia. Discipline of Psychiatry School of Medicine University of Adelaide Adelaide SA Australia. Northern Adelaide Local Health Network Mental Health Services Adelaide SA Australia. Neuroscience Research Australia Sydney NSW Australia. School of Medical Sciences University of New South Wales Sydney NSW Australia. Institute of Psychiatric Phenomics and Genomics (IPPG) University Hospital LMU Munich Munich Germany. Department of Psychiatry and Psychotherapy University Hospital Ludwig-Maximilian-University Munich Munich Germany. Institute of Human Genetics University of Bonn School of Medicine & University Hospital Bonn Bonn Germany. Department of Child and Adolescent Psychiatry Psychosomatics and Psychotherapy LVR Klinikum Essen University of Duisburg-Essen Rheinische Kliniken Essen Germany. Epidemiology Branch Division of Population Health Research Division of Intramural Research Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health Bethesda MD USA. Intramural Research Program National Institute of Mental Health National Institutes of Health US Department of Health & Human Services Bethesda MD USA. HSL Institute for Aging Research Harvard Medical School Boston MA USA. Program for Quantitative Genomics Harvard School of Public Health Boston MA USA. Department of Psychiatry University of California San Diego San Diego CA USA. Department of Psychiatry and Psychotherapy Charité - Universitätsmedizin Berlin Campus Charité Mitte Berlin Germany. Department of Biological Psychiatry and Neuroscience Dokkyo Medical University School of Medicine Mibu Tochigi Japan. Unit of Clinical Pharmacology Hospital University Agency of Caglia

Lithium is regarded as the first-line treatment for bipolar disorder (BD), a severe and disabling mental health disorder that affects about 1% of the population worldwide. Nevertheless, lithium is not consistently effective, with only 30% of patients showing a favorable response to treatment. To provide personalized treatment options for bipolar patients, it is essential to identify prediction biomarkers such as polygenic scores. In this study, we developed a polygenic score for lithium treatment response (Li) in patients with BD. To gain further insights into lithium's possible molecular mechanism of action, we performed a genome-wide gene-based analysis. Using polygenic score modeling, via methods incorporating Bayesian regression and continuous shrinkage priors, Li was developed in the International Consortium of Lithium Genetics cohort (ConLiGen: N = 2367) and replicated in the combined PsyCourse (N = 89) and BipoLife (N = 102) studies. The associations of Li and lithium treatment response - defined in a continuous ALDA scale and a categorical outcome (good response vs. poor response) were tested using regression models, each adjusted for the covariates: age, sex, and the first four genetic principal components. Statistical significance was determined at P < 0.05. Li was positively associated with lithium treatment response in the ConLiGen cohort, in both the categorical (P = 9.8 × 10, R = 1.9%) and continuous (P = 6.4 × 10, R = 2.6%) outcomes. Compared to bipolar patients in the 1 decile of the risk distribution, individuals in the 10 decile had 3.47-fold (95%CI: 2.22-5.47) higher odds of responding favorably to lithium. The results were replicated in the independent cohorts for the categorical treatment outcome (P = 3.9 × 10, R = 0.9%), but not for the continuous outcome (P = 0.13). Gene-based analyses revealed 36 candidate genes that are enriched in biological pathways controlled by glutamate and acetylcholine. Li may be useful in the development of pharmacog

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Comparative cellular analysis of motor cortex in human, marmoset and mouse (vol 598, pg 111, 2021)

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NATURE 2022年第7904期604卷 E8-E8页

作者： Bakken, Trygve E. Jorstad, Nikolas L. Hu, Qiwen Lake, Blue B. Tian, Wei Kalmbach, Brian E. Crow, Megan Hodge, Rebecca D. Krienen, Fenna M. Sorensen, Staci A. Eggermont, Jeroen Yao, Zizhen Aevermann, Brian D. Aldridge, Andrew I. Bartlett, Anna Bertagnolli, Darren Casper, Tamara Castanon, Rosa G. Crichton, Kirsten Daigle, Tanya L. Dalley, Rachel Dee, Nick Dembrow, Nikolai Diep, Dinh Ding, Song-Lin Dong, Weixiu Fang, Rongxin Fischer, Stephan Goldman, Melissa Goldy, Jeff Graybuck, Lucas T. Herb, Brian R. Hou, Xiaomeng Kancherla, Jayaram Kroll, Matthew Lathia, Kanan van Lew, Baldur Li, Yang Eric Liu, Christine S. Liu, Hanqing Lucero, Jacinta D. Mahurkar, Anup McMillen, Delissa Miller, Jeremy A. Moussa, Marmar Nery, Joseph R. Nicovich, Philip R. Niu, Sheng-Yong Orvis, Joshua Osteen, Julia K. Owen, Scott Palmer, Carter R. Pham, Thanh Plongthongkum, Nongluk Poirion, Olivier Reed, Nora M. Rimorin, Christine Rivkin, Angeline Romanow, William J. Sedeno-Cortes, Adriana E. Siletti, Kimberly Somasundaram, Saroja Sulc, Josef Tieu, Michael Torkelson, Amy Tung, Herman Wang, Xinxin Xie, Fangming Yanny, Anna Marie Zhang, Renee Ament, Seth A. Behrens, M. Margarita Bravo, Hector Corrada Chun, Jerold Dobin, Alexander Gillis, Jesse Hertzano, Ronna Hof, Patrick R. Hollt, Thomas Horwitz, Gregory D. Keene, C. Dirk Kharchenko, Peter V. Ko, Andrew L. Lelieveldt, Boudewijn P. Luo, Chongyuan Mukamel, Eran A. Pinto-Duarte, Antonio Preiss, Sebastian Regev, Aviv Ren, Bing Scheuermann, Richard H. Smith, Kimberly Spain, William J. White, Owen R. Koch, Christof Hawrylycz, Michael Tasic, Bosiljka Macosko, Evan Z. McCarroll, Steven A. Ting, Jonathan T. Zeng, Hongkui Zhang, Kun Feng, Guoping Ecker, Joseph R. Linnarsson, Sten Lein, Ed S. Allen Institute for Brain Science Seattle WA USA Department of Physiology and Biophysics University of Washington Seattle WA USA Department of Biomedical Informatics Harvard Medical School Boston MA USA Department of Bioengineering University of California San Diego La Jolla CA USA The Salk Institute for Biological Studies La Jolla CA USA Epilepsy Center of Excellence Department of Veterans Affairs Medical Center Seattle WA USA Stanley Institute for Cognitive Genomics Cold Spring Harbor Laboratory Cold Spring Harbor NY USA Department of Genetics Harvard Medical School Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA LKEB Department of Radiology Leiden University Medical Center Leiden The Netherlands Pattern Recognition and Bioinformatics group Delft University of Technology Delft The Netherlands J. Craig Venter Institute La Jolla CA USA Department of Pathology University of California San Diego CA USA Division of Vaccine Discovery La Jolla Institute for Immunology La Jolla CA USA Genomic Analysis Laboratory The Salk Institute for Biological Studies La Jolla CA USA Computer Science and Engineering Program University of California San Diego La Jolla CA USA Howard Hughes Medical Institute The Salk Institute for Biological Studies La Jolla CA USA Bioinformatics and Systems Biology Graduate Program University of California San Diego La Jolla CA USA Institute for Genomes Sciences University of Maryland School of Medicine Baltimore MD USA Center for Epigenomics Department of Cellular and Molecular Medicine University of California San Diego La Jolla CA USA Ludwig Institute for Cancer Research La Jolla CA USA Department of Computer Science University of Maryland College Park College Park MD USA Sanford Burnham Prebys Medical Discovery Institute La Jolla CA USA Biomedical Sciences Program School of Medicine University of California San Diego La Jolla CA USA University of Connecticut Storrs CT USA Department

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Zap-and-Freeze Electron Microscopy Captures Synaptic Vesicle Exocytosis with Unprecedented Temporal Precision

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Microscopy and Microanalysis 2018年第S1期24卷 1254-1255页

作者： Grant F. Kusick Morven Chin Shigeki Watanabe Department of Cell Biology Johns Hopkins University School of Medicine Baltimore MD 21205 USA Biochemistry Cellular and Molecular Biology Graduate Program Johns Hopkins University School of Medicine Baltimore MD 21205 USA Department of Biology Dartmouth College Hanover NH 03755 USA Solomon H. Snyder Department of Neuroscience Johns Hopkins University School of Medicine Baltimore MD 21205 USA

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