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Dual-targeting compounds possessing enhanced anticancer activity via microtubule disruption and histone deacetylase inhibition

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European Journal of Medicinal Chemistry 2024年 265卷 116042页

作者： Tseng, Yu-Wei Yang, Tsung-Jung Hsu, Yuan-Ling Liu, Jyung-Hurng Tseng, Yin-Chen Hsu, Tse-Wei Lu, Yueh Pan, Szu-Hua Cheng, Ting-Jen Rachel Fang, Jim-Min Department of Chemistry National Taiwan University Taipei 106 Taiwan Graduate Institute of Medical Genomics and Proteomics College of Medicine National Taiwan University Taipei 100 Taiwan Graduate Institute of Genomics and Bioinformatics College of Life Sciences National Chung Hsing University Taichung 40227 Taiwan The Genomics Research Center Academia Sinica Taipei 115 Taiwan Doctoral Degree Program of Translational Medicine National Taiwan University Taipei 100 Taiwan Genome and Systems Biology Degree Program National Taiwan University and Academia Sinica Taipei 100 Taiwan

Dual-targeting anticancer agents 4–29 are designed by combining the structural features of purine-type microtubule-disrupting compounds and HDAC inhibitors. A library of the conjugate compounds connected by appropriate linkers was synthesized and found to possess HDACs inhibitory activity and render microtubule fragmentation by activating katanin, a microtubule-severing protein. Among various zinc-binding groups, hydroxamic acid shows the highest inhibitory activity of Class I HDACs, which was also reconfirmed by three-dimensional quantitative structure-activity relationship (3D-QSAR) pharmacophore prediction. The purine–hydroxamate conjugates exhibit enhanced cytotoxicity against MDA-MB231 breast cancer cells, H1975 lung cancer cells, and various clinical isolated non-small-cell lung cancer cells with different epidermal growth factor receptor (EGFR) status. Pyridyl substituents could be used to replace the C2 and N9 phenyl moieties in the purine-type scaffold, which can help to improve the solubility under physiological conditions, thus increasing cytotoxicity. In mice treated with the purine–hydroxamate conjugates, the tumor growth rate was significantly reduced without causing toxic effects. Our study demonstrates the potential of the dual-targeting purine–hydroxamate compounds for cancer monotherapy. © 2023 Elsevier Masson SAS

关键词： Breast cancer Histidine deacetylase Hydroxamate Katanin Lung cancer Microtubule Purine-type conjugate

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Characterization of primary Sjögren's syndrome in the Taiwan Han population through a genome-wide association study and polygenic risk score analysis

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Clinical Immunology 2024年 269卷 110381-110381页

作者： Liu, Ting-Yuan Lin, Min-Rou Lu, Hsing-Fang Chen, Yu-Chia Lin, Hui-Ju Chou, Wan-Hsuan Wei, Chun-Yu Palupi, Poppy Diah Liao, Chi-Chou Chang, Yen-Ting Chang, Wei-Chiao Tsai, Fuu-Jen Department of Medical Research China Medical University Hospital China Medical University Taichung 40447 Taiwan Department of Clinical Pharmacy School of Pharmacy Taipei Medical University Taipei 110 Taiwan Department of Ophthalmology Eye Center China Medical University Hospital Taichung 40447 Taiwan Master Program in Clinical Genomics and Proteomics School of Pharmacy Taipei Medical University Taipei 110 Taiwan Core Laboratory of Neoantigen Analysis for Personalized Cancer Vaccine Office of R&D Taipei Medical University Taipei 110 Taiwan Integrative Research Center in Critical Care Wanfang Hospital Taipei Medical University Taipei 116 Taiwan Department of Pharmacy Wan Fang Hospital Taipei Medical University Taipei 110 Taiwan Department of Pharmacology National Defense Medical Center Taipei 110 Taiwan Department of Medical Research China Medical University Hospital Taichung 40402 Taiwan School of Chinese Medicine China Medical University Taichung 40402 Taiwan Division of Pediatric Medical Genetics Children's Hospital of China Medical University Taichung 40447 Taiwan Department of Biotechnology and Bioinformatics Asia University Taichung 41354 Taiwan

Background: Sjögren's syndrome (SS) is an autoimmune disorder that primarily affects the exocrine glands, leading to dryness of mucous membranes and systemic manifestations. This study aimed to identify genetic markers associated with primary SS (pSS) in the Taiwan Han population through a hospital-based genome-wide association study (GWAS) and polygenic risk score (PRS) analysis, addressing the lack of genetic research. Results: This study included 11,390 patients diagnosed with pSS and 113,900 controls. GWAS identified one known locus and eight novel loci. Known HLA alleles, including HLA-DRB1*15:01 and HLA-DQA1*03:01, were successfully replicated in a consistent effect direction. PRS analysis revealed that several autoimmune diseases share similar genetic backgrounds with pSS, including rheumatoid arthritis and systemic lupus erythematosus. Conclusion: This study represents the largest cohort to date on the genetics of pSS in the Taiwan Han population. Our findings provide valuable insights into the pathogenesis of pSS and emphasize the comorbidities associated with it as an autoimmune disease. © 2024

关键词： Gene polymorphism Genome-wide association study (GWAS) Human leukocyte antigen (HLA) Phenome-wide association study (PheWAS) Polygenic risk score (PRS) Sjögren's syndrome

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A systems biology approach uncovers novel disease mechanisms in age-related macular degeneration

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Cell genomics 2023年第6期3卷 100302-100302页

作者： Orozco, Luz D. Owen, Leah A. Hofmann, Jeffrey Stockwell, Amy D. Tao, Jianhua Haller, Susan Mukundan, Vineeth T. Clarke, Christine Lund, Jessica Sridhar, Akshayalakshmi Mayba, Oleg Barr, Julie L. Zavala, Rylee A. Graves, Elijah C. Zhang, Charles Husami, Nadine Finley, Robert Au, Elizabeth Lillvis, John H. Farkas, Michael H. Shakoor, Akbar Sherva, Richard Kim, Ivana K. Kaminker, Joshua S. Townsend, Michael J. Farrer, Lindsay A. Yaspan, Brian L. Chen, Hsu-Hsin DeAngelis, Margaret M. Department of Bioinformatics and Computational Biology Genentech South San Francisco 94080 CA United States Department of Ophthalmology and Visual Sciences University of Utah School of Medicine The University of Utah Salt Lake City 84132 UT United States Department of Population Health Sciences University of Utah School of Medicine The University of Utah Salt Lake City 84132 UT United States Department of Obstetrics and Gynecology University of Utah School of Medicine The University of Utah Salt Lake City 84132 UT United States Department of Ophthalmology Ross Eye Institute Jacobs School of Medicine and Biomedical Sciences State University of New York University at Buffalo Buffalo 14203 NY United States Department of Pathology Genentech South San Francisco 94080 CA United States Department of Human Genetics Genentech South San Francisco 94080 CA United States Departments of Microchemistry Proteomics and Lipidomics Genentech South San Francisco 94080 CA United States Department of Human Pathobiology & OMNI Reverse Translation Genentech South San Francisco 94080 CA United States Neuroscience Graduate Program Jacobs School of Medicine and Biomedical Sciences State University of New York University at Buffalo Buffalo 14203 NY United States Department of Biochemistry Jacobs School of Medicine and Biomedical Sciences State University of New York University at Buffalo Buffalo 14203 NY United States Veterans Administration Western New York Healthcare System Buffalo 14212 NY United States Department of Medicine Biomedical Genetics Boston University School of Medicine Boston 02118 MA United States Retina Service Massachusetts Eye & Ear Department of Ophthalmology Harvard Medical School Boston 02114 MA United States Genetics Genomics and Bioinformatics Graduate Program Jacobs School of Medicine and Biomedical Sciences State University of New York University at Buffalo Buffalo 14203 NY United States

Age-related macular degeneration (AMD) is a leading cause of blindness, affecting 200 million people worldwide. To identify genes that could be targeted for treatment, we created a molecular atlas at different stages of AMD. Our resource is comprised of RNA sequencing (RNA-seq) and DNA methylation microarrays from bulk macular retinal pigment epithelium (RPE)/choroid of clinically phenotyped normal and AMD donor eyes (n = 85), single-nucleus RNA-seq (164,399 cells), and single-nucleus assay for transposase-accessible chromatin (ATAC)-seq (125,822 cells) from the retina, RPE, and choroid of 6 AMD and 7 control donors. We identified 23 genome-wide significant loci differentially methylated in AMD, over 1,000 differentially expressed genes across different disease stages, and an AMD Müller state distinct from normal or gliosis. Chromatin accessibility peaks in genome-wide association study (GWAS) loci revealed putative causal genes for AMD, including HTRA1 and C6orf223. Our systems biology approach uncovered molecular mechanisms underlying AMD, including regulators of WNT signaling, FRZB and TLE2, as mechanistic players in disease. © 2023 The Authors

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γ-Linolenic acid in maternal milk drives cardiac metabolic maturation (vol 618, pg 365, 2023)

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NATURE 2023年第7968期619卷 E24-E24页

作者： Paredes, Ana Justo-Mendez, Raquel Jimenez-Blasco, Daniel Nunez, Vanessa Calero, Irene Villalba-Orero, Maria Alegre-Marti, Andrea Fischer, Thierry Gradillas, Ana Sant'Anna, Viviane Aparecida Rodrigues Were, Felipe Huang, Zhiqiang Hernansanz-Agustin, Pablo Contreras, Carmen Martinez, Fernando Camafeita, Emilio Vazquez, Jesus Ruiz-Cabello, Jesus Area-Gomez, Estela Sanchez-Cabo, Fatima Treuter, Eckardt Bolanos, Juan Pedro Estebanez-Perpina, Eva Ruperez, Francisco Javier Barbas, Coral Enriquez, Jose Antonio Ricote, Mercedes Cardiovascular Regeneration Program Centro Nacional de Investigaciones Cardiovasculares (CNIC) Madrid Spain Departamento de Medicina y Cirugía Animal Universidad Complutense de Madrid (UCM) Madrid Spain CIBER de Fragilidad y Envejecimiento Saludable (CIBERFES) Madrid Spain Institute of Functional Biology and Genomics (IBFG) University of Salamanca CSIC Salamanca Spain Institute for Biomedical Research of Salamanca (IBSAL) Salamanca Spain Department of Biochemistry and Molecular Biomedicine Institute of Biomedicine (IBUB) of the University of Barcelona (UB) Barcelona Spain Department of Immunology and Oncology Centro Nacional de Biotecnología-Consejo Superior de Investigaciones Científicas (CNB/CSIC) Campus Universidad Autónoma de Madrid (UAM) Madrid Spain Centro de Metabolómica y Bioanálisis (CEMBIO) Facultad de Farmacia Universidad San Pablo-CEU CEU Universities Madrid Spain Bioinformatics Unit Centro Nacional de Investigaciones Cardiovasculares (CNIC) Madrid Spain CIBER de Enfermedades Cardiovasculares (CIBERCV) Madrid Spain Department of Biosciences and Nutrition Karolinska Institutet Huddinge Sweden Proteomics Unit Centro Nacional de Investigaciones Cardiovasculares (CNIC) Madrid Spain CIC biomaGUNE Basque Research and Technology Alliance (BRTA) San Sebastian Spain Ikerbasque Basque Foundation for Science Bilbao Spain CIBER de Enfermedades Respiratorias (CIBERES) Madrid Spain Departamento de Ciencias Farmacéuticas Facultad de Farmacia Universidad Complutense Madrid (UCM) Madrid Spain Departament of Cellular and Molecular Biology Centro de Investigaciones Biológicas Margarita Salas-CSIC Madrid Spain Department of Neurology Columbia University Medical Campus New York NY USA

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JS08.6.A A connectivity signature for glioblastoma

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Neuro-Oncology 2022年第SUPPLEMENT_2期24卷 ii8-ii9页

作者： Hoffmann, D C Hai, L Wagener, R Mandelbaum, H Xie, R Hausmann, D Dominguez Azorín, D Weil, S Sievers, P Cebulla, G Ito, J Warnken, U Venkataramani, V Ernst, K Reibold, D Will, R Suvà, M L Herold-Mende, C Sahm, F Winkler, F Schlesner, M Wick, W Kessler, T Clinical Cooperation Unit Neurooncology German Cancer Consortium (DKTK) German Cancer Research Center (DKFZ) Heidelberg Germany Department of Neurology and Neurooncology Program National Center for Tumor Diseases Heidelberg University Hospital Heidelberg Germany Faculty of Biosciences Heidelberg University Heidelberg Germany Bioinformatics and Omics Data Analytics DKFZ Heidelberg Germany Department of Neuropathology Institute of Pathology University Hospital Heidelberg Heidelberg Germany Clinical Cooperation Unit Neuropathology DKTK DKFZ Heidelberg Germany Department of Neuroanatomy Institute for Anatomy and Cell Biology Heidelberg University Heidelberg Germany Hopp Children's Cancer Center at the NCT Heidelberg (KiTZ) Heidelberg Germany Division of Pediatric Neurooncology DKTK DKFZ Heidelberg Germany Genomics and Proteomics Core Facility DKTK DKFZ Heidelberg Germany Broad Institute of Harvard and MIT Cambridge MA United States Department of Pathology and Center for Cancer Research Massachusetts General Hospital and Harvard Medical School Boston MA United States Department of Neurosurgery Heidelberg University Hospital Heidelberg Germany Biomedical Informatics Data Mining and Data Analytics Faculty of Applied Computer Science and Medical Faculty University of Augsburg Augsburg Germany

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Author Correction: π-HuB: the proteomic navigator of the human body

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Nature 2025年第8046期637卷 E22页

作者： Fuchu He Ruedi Aebersold Mark S Baker Xiuwu Bian Xiaochen Bo Daniel W Chan Cheng Chang Luonan Chen Xiangmei Chen Yu-Ju Chen Heping Cheng Ben C Collins Fernando Corrales Jürgen Cox Weinan E Jennifer E Van Eyk Jia Fan Pouya Faridi Daniel Figeys George Fu Gao Wen Gao Zu-Hua Gao Keisuke Goda Wilson Wen Bin Goh Dongfeng Gu Changjiang Guo Tiannan Guo Yuezhong He Albert J R Heck Henning Hermjakob Tony Hunter Narayanan Gopalakrishna Iyer Ying Jiang Connie R Jimenez Lokesh Joshi Neil L Kelleher Ming Li Yang Li Qingsong Lin Cui Hua Liu Fan Liu Guang-Hui Liu Yansheng Liu Zhihua Liu Teck Yew Low Ben Lu Matthias Mann Anming Meng Robert L Moritz Edouard Nice Guang Ning Gilbert S Omenn Christopher M Overall Giuseppe Palmisano Yaojin Peng Charles Pineau Terence Chuen Wai Poon Anthony W Purcell Jie Qiao Roger R Reddel Phillip J Robinson Paola Roncada Chris Sander Jiahao Sha Erwei Song Sanjeeva Srivastava Aihua Sun Siu Kwan Sze Chao Tang Liujun Tang Ruijun Tian Juan Antonio Vizcaíno Chanjuan Wang Chen Wang Xiaowen Wang Xinxing Wang Yan Wang Tobias Weiss Mathias Wilhelm Robert Winkler Bernd Wollscheid Limsoon Wong Linhai Xie Wei Xie Tao Xu Tianhao Xu Liying Yan Jing Yang Xiao Yang John Yates Tao Yun Qiwei Zhai Bing Zhang Hui Zhang Lihua Zhang Lingqiang Zhang Pingwen Zhang Yukui Zhang Yu Zi Zheng Qing Zhong Yunping Zhu State Key Laboratory of Medical Proteomics Beijing Proteome Research Center National Center for Protein Sciences (Beijing) Beijing Institute of Lifeomics Beijing China. hefc@***. International Academy of Phronesis Medicine (Guangdong) Guangdong China. hefc@***. Department of Biology Institute of Molecular Systems Biology ETH Zurich Zurich Switzerland. aebersold@imsb.biol.ethz.ch. Macquarie Medical School Macquarie University Sydney New South Wales Australia. Institute of Pathology and Southwest Cancer Center Southwest Hospital Third Military Medical University (Army Medical University) and Key Laboratory of Tumor Immunopathology Ministry of Education of China Chongqing China. Institute of Health Service and Transfusion Medicine Beijing China. Department of Pathology and The Sidney Kimmel Comprehensive Cancer Center Johns Hopkins University Baltimore MD USA. State Key Laboratory of Medical Proteomics Beijing Proteome Research Center National Center for Protein Sciences (Beijing) Beijing Institute of Lifeomics Beijing China. Key Laboratory of Systems Biology Center for Excellence in Molecular Cell Science Shanghai Institute of Biochemistry and Cell Biology Chinese Academy of Sciences Shanghai China. Department of Nephrology First Medical Center of Chinese PLA General Hospital Nephrology Institute of the Chinese People's Liberation Army State Key Laboratory of Kidney Diseases National Clinical Research Center for Kidney Diseases Beijing Key Laboratory of Kidney Disease Research Beijing China. Institute of Chemistry Academia Sinica Taipei China. National Biomedical Imaging Center State Key Laboratory of Membrane Biology Institute of Molecular Medicine Peking-Tsinghua Center for Life Sciences College of Future Technology Peking University Beijing China. School of Biological Sciences Queen's University of Belfast Belfast UK. Functional Proteomics Laboratory Centro Nacional de Biotecnología-CSIC Madrid Spain. Computational Systems Biochemistry Research Group Ma

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Author Correction: Proteogenomic analysis reveals RNA as a source for tumor-agnostic neoantigen identification

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Nature communications 2024年第1期15卷 2364页

作者： Celina Tretter Niklas de Andrade Krätzig Matteo Pecoraro Sebastian Lange Philipp Seifert Clara von Frankenberg Johannes Untch Gabriela Zuleger Mathias Wilhelm Daniel P Zolg Florian S Dreyer Eva Bräunlein Thomas Engleitner Sebastian Uhrig Melanie Boxberg Katja Steiger Julia Slotta-Huspenina Sebastian Ochsenreither Nikolas von Bubnoff Sebastian Bauer Melanie Boerries Philipp J Jost Kristina Schenck Iska Dresing Florian Bassermann Helmut Friess Daniel Reim Konrad Grützmann Katrin Pfütze Barbara Klink Evelin Schröck Bernhard Haller Bernhard Kuster Matthias Mann Wilko Weichert Stefan Fröhling Roland Rad Michael Hiltensperger Angela M Krackhardt German Cancer Consortium (DKTK) partner site Munich and German Cancer Research Center (DKFZ) Heidelberg Germany. Technical University of Munich TUM School of Medicine Klinikum rechts der Isar IIIrd Medical Department Munich Germany. Technical University of Munich TUM School of Medicine Klinikum rechts der Isar IInd Medical Department Munich Germany. Technical University of Munich TUM School of Medicine Center for Translational Cancer Research (TranslaTUM) Munich Germany. Technical University of Munich TUM School of Medicine Institute of Molecular Oncology and Functional Genomics Munich Germany. Department of Proteomics and Signal Transduction Max Plank Institute of Biochemistry Munich Germany. Institute for Research in Biomedicine Università della Svizzera italiana Bellinzona Switzerland. Technical University of Munich TUM School of Life Sciences Chair of Proteomics and Bioanalytics Freising Germany. Technical University of Munich TUM School of Life Sciences Computational Mass Spectrometry Freising Germany. German Cancer Consortium (DKTK) partner site Heidelberg and German Cancer Research Center (DKFZ) Heidelberg Germany. Molecular Precision Oncology Program NCT Heidelberg Heidelberg Germany. Technical University of Munich TUM School of Medicine Klinikum rechts der Isar Institute of Pathology Munich Germany. German Cancer Consortium (DKTK) partner site Berlin and German Cancer Research Center (DKFZ) Heidelberg Germany. Charité Comprehensive Cancer Center Charité - Universitätsmedizin Berlin Berlin Germany. Department of Hematology Oncology and Tumor Immunology Charité - Universitätsmedizin Berlin Berlin Germany. German Cancer Consortium (DKTK) partner site Freiburg and German Cancer Research Center (DKFZ) Heidelberg Germany. Institute of Medical Bioinformatics and Systems Medicine (IBSM) Medical Center - University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany. Department of Hematology and Oncology Medical Center Universit

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LifeTime and improving European healthcare through cell-based interceptive medicine (vol 587, pg 377, 2020)

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NATURE 2021年第7852期592卷 E8-E8页

作者： Rajewsky, Nikolaus Almouzni, Genevieve Gorski, Stanislaw A. Aerts, Stein Amit, Ido Bertero, Michela G. Bock, Christoph Bredenoord, Annelien L. Cavalli, Giacomo Chiocca, Susanna Clevers, Hans De Strooper, Bart Eggert, Angelika Ellenberg, Jan Fernandez, Xose M. Figlerowicz, Marek Gasser, Susan M. Hubner, Norbert Kjems, Jorgen Knoblich, Jurgen A. Krabbe, Grietje Lichter, Peter Linnarsson, Sten Marine, Jean-Christophe Marioni, John C. Marti-Renom, Marc A. Netea, Mihai G. Nickel, Dorthe Nollmann, Marcelo Novak, Halina R. Parkinson, Helen Piccolo, Stefano Pinheiro, Ines Pombo, Ana Popp, Christian Reik, Wolf Roman-Roman, Sergio Rosenstiel, Philip Schultze, Joachim L. Stegle, Oliver Tanay, Amos Testa, Giuseppe Thanos, Dimitris Theis, Fabian J. Torres-Padilla, Maria-Elena Valencia, Alfonso Vallot, Celine van Oudenaarden, Alexander Vidal, Marie Voet, Thierry Berlin Institute for Medical Systems Biology Max Delbrück Center for Molecular Medicine in the Helmholtz Association Berlin Germany Charité-Universitätsmedizin Berlin Germany Berlin Institute of Health (BIH) Berlin Germany German Center for Cardiovascular Research (DZHK) Partner Site Berlin Berlin Germany Institute for Biology Humboldt University of Berlin Berlin Germany Cardiovascular and Metabolic Sciences Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin Germany Department of Pediatric Oncology/Hematology Charité-Universitätsmedizin Berlin Berlin Germany Institut Curie CNRS PSL Research University Sorbonne Université Nuclear Dynamics Unit Equipe Labellisée Ligue contre le cancer Paris France VIB Center for Brain and Disease Research Leuven Belgium Department of Human Genetics KU Leuven Leuven Belgium Department of Neurosciences KU Leuven Leuven Belgium UK Dementia Research Institute at UCL University College London London UK Wellcome Sanger Institute Wellcome Genome Campus Cambridge UK Department of Immunology Weizmann Institute of Science Rehovot Israel Centre for Genomic Regulation (CRG) Barcelona Institute of Science and Technology Barcelona Spain CNAG-CRG Centre for Genomic Regulation Barcelona Institute of Science and Technology Barcelona Spain Universitat Pompeu Fabra Barcelona Spain ICREA Barcelona Spain CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria Department of Laboratory Medicine Medical University of Vienna Vienna Austria Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria Department of Medical Humanities Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht The Netherlands Institute of Human Genetics UMR 9002 CNRS and University of Montpellier Montpellier France Department of Experimental Oncology IEO European Institute of Oncology IRCCS Milan Italy Department of Oncology and Hemato

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Corrigendum to "Dissecting the genetic heterogeneity of gastric cancer"

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EBioMedicine 2023年 94卷 104709页

作者： Timo Hess Carlo Maj Jan Gehlen Oleg Borisov Stephan L Haas Ines Gockel Michael Vieth Guillaume Piessen Hakan Alakus Yogesh Vashist Carina Pereira Michael Knapp Vitalia Schüller Alexander Quaas Heike I Grabsch Jessica Trautmann Ewa Malecka-Wojciesko Anna Mokrowiecka Jan Speller Andreas Mayr Julia Schröder Axel M Hillmer Dominik Heider Florian Lordick Ángeles Pérez-Aísa Rafael Campo Jesús Espinel Fernando Geijo Concha Thomson Luis Bujanda Federico Sopeña Ángel Lanas María Pellisé Claudia Pauligk Thorsten Oliver Goetze Carolin Zelck Julian Reingruber Emadeldin Hassanin Peter Elbe Sandra Alsabeah Mats Lindblad Magnus Nilsson Nicole Kreuser René Thieme Francesca Tavano Roberta Pastorino Dario Arzani Roberto Persiani Jin-On Jung Henrik Nienhüser Katja Ott Ralf R Schumann Oliver Kumpf Susen Burock Volker Arndt Anna Jakubowska Małgorzta Ławniczak Victor Moreno Vicente Martín Manolis Kogevinas Marina Pollán Justyna Dąbrowska Antonio Salas Olivier Cussenot Anne Boland-Auge Delphine Daian Jean-Francois Deleuze Erika Salvi Maris Teder-Laving Gianluca Tomasello Margherita Ratti Chiara Senti Valli De Re Agostino Steffan Arnulf H Hölscher Katharina Messerle Christiane Josephine Bruns Armands Sīviņš Inga Bogdanova Jurgita Skieceviciene Justina Arstikyte Markus Moehler Hauke Lang Peter P Grimminger Martin Kruschewski Nikolaos Vassos Claus Schildberg Philipp Lingohr Karsten Ridwelski Hans Lippert Nadine Fricker Peter Krawitz Per Hoffmann Markus M Nöthen Lothar Veits Jakob R Izbicki Adrianna Mostowska Federico Martinón-Torres Daniele Cusi Rolf Adolfsson Geraldine Cancel-Tassin Aksana Höblinger Ernst Rodermann Monika Ludwig Gisela Keller Andres Metspalu Hermann Brenner Joerg Heller Markus Neef Michael Schepke Franz Ludwig Dumoulin Lutz Hamann Renato Cannizzaro Michele Ghidini Dominik Plaßmann Michael Geppert Peter Malfertheiner Olivier Glehen Tomasz Skoczylas Marek Majewski Jan Lubiński Orazio Palmieri Stefania Boccia Anna Latiano Nuria Aragones Thomas Schmidt Mário Dinis-Ribeiro Rui Medeiros Salah-Eddin Al-Batran Mārcis Leja Juozas Institute of Human Genetics University of Marburg Marburg Germany Institute of Human Genetics University of Bonn School of Medicine & University Hospital Bonn Bonn Germany. Institute for Genomic Statistics and Bioinformatics Medical Faculty University of Bonn Bonn Germany. Institute of Human Genetics University of Marburg Marburg Germany. Department of Upper GI Diseases Karolinska University Hospital and Unit of Gastroenterology and Rheumatology Karolinska Institutet Stockholm Sweden. Department of Visceral Transplant Thoracic and Vascular Surgery University Hospital Leipzig Leipzig Germany. Institute for Pathology Friedrich-Alexander-University Erlangen-Nuernberg Klinikum Bayreuth Bayreuth Germany. Department of Digestive and Oncological Surgery Claude Huriez Hospital CHU Lille Lille France. Department of General Visceral Cancer and Transplant Surgery University of Cologne Cologne Germany. Department of General Visceral and Thoracic Surgery University Medical Center Hamburg-Eppendorf University of Hamburg Hamburg Germany Centre for Surgical Oncology Medias Klinikum Burghausen Burghausen Germany. Molecular Oncology and Viral Pathology Group IPO Porto Research Center (CI-IPOP) Portuguese Institute of Oncology of Porto (IPO Porto) 4200-072 Porto Portugal Porto Comprehensive Cancer Center & RISE @ CI-IPO University of Porto 4200-450 Porto Portugal. Institute of Medical Biometrics Informatics and Epidemiology (IMBIE) Medical Faculty University of Bonn Bonn Germany. Institute of Pathology University Hospital Cologne Medical Faculty University of Cologne Germany. Department of Pathology GROW School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht the Netherlands Pathology and Data Analytics Leeds Institute of Medical Research at St James's University of Leeds Leeds United Kingdom. Department of Digestive Tract Diseases Medical University of Lodz Lodz Poland. Department of Mathematics and Computer Science Unive

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Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016

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Human genomics 2016年第1期10 Suppl 1卷 12页

作者： A. K. Srivastava Y. Wang R. Huang C. Skinner T. Thompson L. Pollard T. Wood F. Luo R. Stevenson R. Polimanti J. Gelernter X. Lin I. Y. Lim Y. Wu A. L. Teh L. Chen I. M. Aris S. E. Soh M. T. Tint J. L. MacIsaac F. Yap K. Kwek S. M. Saw M. S. Kobor M. J. Meaney K. M. Godfrey Y. S. Chong J. D. Holbrook Y. S. Lee P. D. Gluckman N. Karnani A. Kapoor D. Lee A. Chakravarti C. Maercker F. Graf M. Boutros G. Stamoulis F. Santoni P. Makrythanasis A. Letourneau M. Guipponi N. Panousis M. Garieri P. Ribaux E. Falconnet C. Borel S. E. Antonarakis S. Kumar J. Curran J. Blangero S. Chatterjee J. Akiyama D. Auer C. Berrios L. Pennacchio T. R. Donti G. Cappuccio M. Miller P. Atwal A. Kennedy A. Cardon C. Bacino L. Emrick J. Hertecant F. Baumer B. Porter M. Bainbridge P. Bonnen B. Graham R. Sutton Q. Sun S. Elsea Z. Hu P. Wang Y. Zhu J. Zhao M. Xiong David A. Bennett A. Hidalgo-Miranda S. Romero-Cordoba S. Rodriguez-Cuevas R. Rebollar-Vega E. Tagliabue M. Iorio E. D’Ippolito S. Baroni B. Kaczkowski Y. Tanaka H. Kawaji A. Sandelin R. Andersson M. Itoh T. Lassmann Y. Hayashizaki P. Carninci A. R. R. Forrest C. A. Semple E. A. Rosenthal B. Shirts L. Amendola C. Gallego M. Horike-Pyne A. Burt P. Robertson P. Beyers C. Nefcy D. Veenstra F. Hisama R. Bennett M. Dorschner D. Nickerson J. Smith K. Patterson D. Crosslin R. Nassir N. Zubair T. Harrison U. Peters G. Jarvik F. Menghi K. Inaki X. Woo P. Kumar K. Grzeda A. Malhotra H. Kim D. Ucar P. Shreckengast K. Karuturi J. Keck J. Chuang E. T. Liu B. Ji A. Tyler G. Ananda G. Carter H. Nikbakht M. Montagne M. Zeinieh A. Harutyunyan M. Mcconechy N. Jabado P. Lavigne J. Majewski J. B. Goldstein M. Overman G. Varadhachary R. Shroff R. Wolff M. Javle A. Futreal D. Fogelman L. Bravo W. Fajardo H. Gomez C. Castaneda C. Rolfo J. A. Pinto K. C. Akdemir L. Chin S. Patterson C. Statz S. Mockus S. N. Nikolaev X. I. Bonilla L. Parmentier B. King F. Bezrukov G. Kaya V. Zoete V. Seplyarskiy H. Sharpe T. McKee K. Popadin N. Basset-Seguin R. Ben Chaabene M. Andrianova C. Verdan K. Grosdemange O. Sumara M. E JCSRI Greenwood Genetic Center Greenwood USA School of Computing Clemson University Clemson USA Biochemical Genetics Laboratory Greenwood Genetic Center Greenwood USA Department Psychiatry Yale Sch Med and VA CT Healthcare Center West Haven USA Department Genetics Yale Sch Med and VA CT Healthcare Center West Haven USA Department Neurobiology Yale Sch Med and VA CT Healthcare Center West Haven USA Singapore Institute for Clinical Sciences Singapore Singapore National University of Singapore Singapore Singapore University of British Columbia Vancouver Canada KK Women’s and Children’s Hospital Singapore Singapore University of Southampton and University Hospital Southampton NHS Foundation Trust Southampton UK University of Auckland Auckland New Zealand McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore USA Esslingen University of Applied Sciences Esslingen Germany German Cancer Research Center Heidelberg Germany Department of Genetic Medicine and Development University of Geneva Medical School Geneva Switzerland Geneva University Hospitals-HUG Service of Genetic Medicine Geneva Switzerland GE3 Institute of Genetics and Genomics of Geneva University of Geneva Medical School Geneva Switzerland South Texas Diabetes and Obesity Institute School of Medicine University of Texas Rio-Grande Valley Edinburg USA South Texas Diabetes and Obesity Institute School of Medicine University of Texas Rio-Grande Valley Brownsville USA Institute of Genetic Medicine Johns Hopkins University Baltimore USA Genomics Division Lawrence Berkeley National Laboratory Berkeley USA Molecular and Human Genetics Baylor College of Medicine Houston USA Department of Translational Medical Sciences Federico II University Naples Italy Metabolon Inc Durham USA Section of Pediatric Neurology and Neuroscience Baylor College of Medicine Houston USA Tawam Hospital Abu Dhabi United Arab Emirates Stanford Medical School Stanford USA Sch

O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide association study for smoking- and drinking-associated genes in 26,394 American women with African, Asian, European, and Hispanic descents R. Polimanti, J. Gelernter O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from GUSTO, an Asian birth cohort X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen, I. M. Aris, S. E. Soh, M. T. Tint, J. L. MacIsaac, F. Yap, K. Kwek, S. M. Saw, M. S. Kobor, M. J. Meaney, K. M. Godfrey, Y. S. Chong, J. D. Holbrook, Y. S. Lee, P. D. Gluckman, N. Karnani, GUSTO study group O4 High-throughput identification of specific qt interval modulating enhancers at the SCN5A locus A. Kapoor, D. Lee, A. Chakravarti O5 Identification of extracellular matrix components inducing cancer cell migration in the supernatant of cultivated mesenchymal stem cells C. Maercker, F. Graf, M. Boutros O6 Single cell allele specific expression (ASE) IN T21 and common trisomies: a novel approach to understand DOWN syndrome and other aneuploidies G. Stamoulis, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, N. Panousis, M. Garieri, P. Ribaux, E. Falconnet, C. Borel, S. E. Antonarakis O7 Role of microRNA in LCL to IPSC reprogramming S. Kumar, J. Curran, J. Blangero O8 Multiple enhancer variants disrupt gene regulatory network in Hirschsprung disease S. Chatterjee, A. Kapoor, J. Akiyama, D. Auer, C. Berrios, L. Pennacchio, A. Chakravarti O9 Metabolomic profiling for the diagnosis of neurometabolic disorders T. R. Donti, G. Cappuccio, M. Miller, P. Atwal, A. Kennedy, A. Cardon, C. Bacino, L. Emrick, J. Hertecant, F. Baumer, B. Porter, M. Bainbridge, P. Bonnen, B. Graham, R. Sutton, Q. Sun, S. Elsea O10 A novel causal methylation network approach to Alzheimer’s

关键词： Pulmonary Arterial Hypertension Oral Squamous Cell Carcinoma Deep Neural Network Autosomal Recessive Polycystic Kidney Disease Whole Genome Bisulfite Sequencing

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