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Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (vol 51, pg 659, 2019)

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NATURE GENETICS 2019年第6期51卷 1068-1068页

作者： Huckins, Laura M. Dobbyn, Amanda Ruderfer, Douglas M. Hoffman, Gabriel Wang, Weiqing Pardinas, Antonio F. Rajagopal, Veera M. Als, Thomas D. Nguyen, Hoang T. Girdhar, Kiran Boocock, James Roussos, Panos Fromer, Menachem Kramer, Robin Domenici, Enrico Gamazon, Eric R. Purcell, Shaun Demontis, Ditte Borglum, Anders D. Walters, James T. R. O'Donovan, Michael C. Sullivan, Patrick Owen, Michael J. Devlin, Bernie Sieberts, Solveig K. Cox, Nancy J. Im, Hae Kyung Sklar, Pamela Stahl, Eli A. Pamela Sklar Division of Psychiatric Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics and Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai New York NY USA Vanderbilt University Medical Center Nashville TN USA MRC Centre for Neuropsychiatric Genetics and Genomics Cardiff University Cardiff UK Department of Biomedicine Aarhus University Aarhus Denmark The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Denmark Center for Integrative Sequencing Aarhus University Aarhus Denmark Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA Human Brain Collection Core National Institute of Mental Health Bethesda MD USA Laboratory of Neurogenomic Biomarkers Centre for Integrative Biology (CIBIO) University of Trento Trento Italy Clare Hall University of Cambridge Cambridge UK University of North Carolina at Chapel Hill Chapel Hill NC USA Karolinska Institutet Stockholm Sweden Department of Psychiatry University of Pittsburgh Pittsburgh PA USA Systems Biology Sage Bionetworks Seattle WA USA Section of Genetic Medicine Department of Medicine University of Chicago Chicago IL USA Integrated Technology Research Laboratories Pharmaceutical Research Division Takeda Pharmaceutical Company Limited Fujisawa Japan Neuropsychiatry Section Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Neuropsychiatric Signaling Program Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Psychiatry JJ Peters Virginia Medical Center Bronx NY USA Department of Neuroscience Icahn School of Medicine at Mount Sinai New York New York NY USA Friedman Brain Institute

Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex genome-wide association study (GWAS) loci and may disentangle the role of different tissues in disease development. We used the largest eQTL reference panel for the dorso-lateral prefrontal cortex (DLPFC) to create a set of gene expression predictors and demonstrate their utility. We applied DLPFC and 12 GTEx-brain predictors to 40,299 schizophrenia cases and 65,264 matched controls for a large transcriptomic imputation study of schizophrenia. We identified 413 genic associations across 13 brain regions. Stepwise conditioning identified 67 non-MHC genes, of which 14 did not fall within previous GWAS loci. We identified 36 significantly enriched pathways, including hexosaminidase-A deficiency, and multiple porphyric disorder pathways. We investigated developmental expression patterns among the 67 non-MHC genes and identified specific groups of pre- and postnatal expression.

关键词： Gene expression Genome-wide association studies Schizophrenia Transcriptomics

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Role of viruses, prions and miRNA in neurodegenerative disorders and dementia

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VirusDisease 2018年第4期29卷 419-433页

作者： Sohrab, Sayed Sartaj Suhail, Mohd Ali, Ashraf Kamal, Mohammad Amjad Husen, Azamal Ahmad, Fahim Azhar, Esam Ibraheem Greig, Nigel H. Special Infectious Agents Unit King Fahd Medical Research Center King Abdulaziz University Post Box No-80216 Jeddah 21589 Saudi Arabia King Fahd Medical Research Center King Abdulaziz University P.O. Box No 21589 Jeddah Saudi Arabia Enzymoics 7 Peterlee Place Hebersham 2770 NSW Australia Novel Global Community Educational Foundation Sydney Australia Department of Medical Laboratory Technology Faculty of Applied Medical Sciences King Abdulaziz University Jeddah Saudi Arabia Department of Biology College of Natural and Computational Sciences University of Gondar P.O. Box 196 Gondar Ethiopia Drug Discovery Division Southern Research Institute 2000 Ninth Ave South Birmingham 35205 AL United States Drug Design & Development Section Translational Gerontology Branch Intramural Research Program National Institute on Aging National Institutes of Health Biomedical Research Center 251 Bayview Boulevard Baltimore 21224 MD United States

Dementia is known as loss of cellular communications in the brain at a region caused by multi-factorial diseases and pathogenic infections. Approximately eighty percent reported cases of Alzheimer’s disease are followed by vascular dementia. The common symptoms of dementia include memory loss, concentration problems, thinking, and language solving situations. Dementia is a multifactorial disease but based on latest research;various reports have been published describing the linkage and role of viruses, prions and miRNAs in neurodegeneration and neurodegenerative disorders resulting into dementia and due to this we selected to review and provide latest information related to dementia. MiRNAs are small non-coding RNAs carrying genetic regulatory information contributing to neurological disorders among human and animals. A prion is an infectious agent made of protein material. Recently, it has been reported that prions play a significant role in signaling processes, resulting in amyloidogenesis and neurological disorders. Viruses attack human immune system and central nervous system and affect classical pathways of neurodegenerative diseases. Comprehensive understandings of the expression profiles and activities of these miRNAs, Prions, Viruses will illuminate their roles as potential therapeutic targets in neurodegeneration and may lead to the discovery of breakthrough treatment strategies for neurodegenerative disorders and dementia. The provided information will further be significant not only in neuro-scientific research, but also in designing and development of management strategies for dementia. © 2018, Indian Virological Society.

关键词： Dementia miRNAs Neurodegeneration Prions Viruses

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Author Correction: Universal DNA methylation age across mammalian tissues

Nature aging

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Nature aging 2023年第11期3卷 1462页

作者： A T Lu Z Fei A Haghani T R Robeck J A Zoller C Z Li R Lowe Q Yan J Zhang H Vu J Ablaeva V A Acosta-Rodriguez D M Adams J Almunia A Aloysius R Ardehali A Arneson C S Baker G Banks K Belov N C Bennett P Black D T Blumstein E K Bors C E Breeze R T Brooke J L Brown G G Carter A Caulton J M Cavin L Chakrabarti I Chatzistamou H Chen K Cheng P Chiavellini O W Choi S M Clarke L N Cooper M L Cossette J Day J DeYoung S DiRocco C Dold E E Ehmke C K Emmons S Emmrich E Erbay C Erlacher-Reid C G Faulkes S H Ferguson C J Finno J E Flower J M Gaillard E Garde L Gerber V N Gladyshev V Gorbunova R G Goya M J Grant C B Green E N Hales M B Hanson D W Hart M Haulena K Herrick A N Hogan C J Hogg T A Hore T Huang J C Izpisua Belmonte A J Jasinska G Jones E Jourdain O Kashpur H Katcher E Katsumata V Kaza H Kiaris M S Kobor P Kordowitzki W R Koski M Krützen S B Kwon B Larison S G Lee M Lehmann J F Lemaitre A J Levine C Li X Li A R Lim D T S Lin D M Lindemann T J Little N Macoretta D Maddox C O Matkin J A Mattison M McClure J Mergl J J Meudt G A Montano K Mozhui J Munshi-South A Naderi M Nagy P Narayan P W Nathanielsz N B Nguyen C Niehrs J K O'Brien P O'Tierney Ginn D T Odom A G Ophir S Osborn E A Ostrander K M Parsons K C Paul M Pellegrini K J Peters A B Pedersen J L Petersen D W Pietersen G M Pinho J Plassais J R Poganik N A Prado P Reddy B Rey B R Ritz J Robbins M Rodriguez J Russell E Rydkina L L Sailer A B Salmon A Sanghavi K M Schachtschneider D Schmitt T Schmitt L Schomacher L B Schook K E Sears A W Seifert A Seluanov A B A Shafer D Shanmuganayagam A V Shindyapina M Simmons K Singh I Sinha J Slone R G Snell E Soltanmaohammadi M L Spangler M C Spriggs L Staggs N Stedman K J Steinman D T Stewart V J Sugrue B Szladovits J S Takahashi M Takasugi E C Teeling M J Thompson B Van Bonn S C Vernes D Villar H V Vinters M C Wallingford N Wang R K Wayne G S Wilkinson C K Williams R W Williams X W Yang M Yao B G Young B Zhang Z Zhang P Zhao Y Zhao W Zhou J Zimmermann J Ernst K Raj S Horvath Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA. Altos Labs San Diego Institute of Science San Diego CA USA. Department of Biostatistics Fielding School of Public Health University of California Los Angeles Los Angeles CA USA. Department of Statistics University of California Riverside Riverside CA USA. Zoological SeaWorld Parks and Entertainment Orlando FL USA. Altos Labs Cambridge Institute of Science Cambridge UK. Bioinformatics Interdepartmental Program University of California Los Angeles CA USA. Department of Biological Chemistry University of California Los Angeles Los Angeles CA USA. Department of Biology University of Rochester Rochester NY USA. Department of Neuroscience Peter O'Donnell Jr. Brain Institute University of Texas Southwestern Medical Center Dallas TX USA. Department of Biology University of Maryland College Park MD USA. Loro Parque Fundacion Puerto de la Cruz Spain. Department of Biology University of Kentucky Lexington KY USA. Division of Cardiology Department of Internal Medicine David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA. Marine Mammal Institute Oregon State University Newport OR USA. School of Science and Technology Clifton Campus Nottingham Trent University Nottingham UK. School of Life and Environmental Sciences the University of Sydney Sydney New South Wales Australia. Department of Zoology and Entomology University of Pretoria Hatfield South Africa. Busch Gardens Tampa Tampa FL USA. Department of Ecology and Evolutionary Biology University of California Los Angeles Los Angeles CA USA. Rocky Mountain Biological Laboratory Crested Butte CO USA. Altius Institute for Biomedical Sciences Seattle WA USA. Epigenetic Clock Development Foundation Los Angeles CA USA. Center for Species Survival Smithsonian Conservation Biology Institute Front Royal VA USA. Department of Evolution Eco

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Incremental Fermi Large Area Telescope Fourth Source Catalog

arXiv

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arXiv 2022年

作者： Abdollahi, S. Acero, F. Baldini, L. Ballet, Jean Bastieri, D. Bellazzini, R. Berenji, B. Berretta, A. Bissaldi, E. Blandford, R.D. Bloom, E. Bonino, R. Brill, A. Britto, R.J. Bruel, P. Burnett, T.H. Buson, S. Cameron, R.A. Caputo, R. Caraveo, P.A. Castro, D. Chaty, S. Cheung, C.C. Chiaro, G. Cibrario, N. Ciprini, S. Coronado-Blázquez, J. Crnogorcevic, M. Cutini, S. D'Ammando, F. De Gaetano, S. Digel, S.W. Di Lalla, N. Dirirsa, F. Di Venere, L. Domínguez, A. Fallah Ramazani, V. Fegan, S.J. Ferrara, E.C. Fiori, A. Fleischhack, H. Franckowiak, A. Fukazawa, Y. Funk, S. Fusco, P. Galanti, G. Gammaldi, V. Gargano, F. Garrappa, S. Gasparrini, D. Giacchino, F. Giglietto, N. Giordano, F. Giroletti, M. Glanzman, T. Green, D. Grenier, I.A. Grondin, M.-H. Guillemot, L. Guiriec, S. Gustafsson, M. Harding, A.K. Hays, E. Hewitt, J.W. Horan, D. Hou, X. Jóhannesson, G. Karwin, C. Kayanoki, T. Kerr, M. Kuss, M. Landriu, D. Larsson, S. Latronico, L. Lemoine-Goumard, M. Li, J. Liodakis, I. Longo, F. Loparco, F. Lott, B. Lubrano, P. Maldera, S. Malyshev, D. Manfreda, A. Martí-Devesa, G. Mazziotta, M.N. Mereu, I. Meyer, M. Michelson, P.F. Mirabal, N. Mitthumsiri, W. Mizuno, T. Moiseev, A.A. Monzani, M.E. Morselli, A. Moskalenko, I.V. Negro, M. Nuss, E. Omodei, N. Orienti, M. Orlando, E. Paneque, D. Pei, Z. Perkins, J.S. Persic, M. Pesce-Rollins, M. Petrosian, V. Pillera, R. Poon, H. Porter, T.A. Principe, G. Rainò, S. Rando, R. Rani, B. Razzano, M. Razzaque, S. Reimer, A. Reimer, O. Reposeur, T. Sánchez-Conde, M. Saz Parkinson, P.M. Scotton, L. Serini, D. Sgrò, C. Siskind, E.J. Smith, D.A. Spandre, G. Spinelli, P. Sueoka, K. Suson, D.J. Tajima, H. Tak, D. Thayer, J.B. Thompson, D.J. Torres, D.F. Troja, E. Valverde, J. Wood, K. Zaharijas, G. IRAP Université de Toulouse CNRS UPS CNES ToulouseF-31028 France Université Paris Saclay Université Paris Cité CEA CNRS AIM Gif-sur-Yvette F-91191 France Università di Pisa Istituto Nazionale di Fisica Nucleare Sezione di Pisa PisaI-56127 Italy Istituto Nazionale di Fisica Nucleare Sezione di Padova PadovaI-35131 Italy Dipartimento di Fisica e Astronomia "G. Galilei" Università di Padova PadovaI-35131 Italy Center for Space Studies and Activities "G. Colombo" University of Padova Via Venezia 15 PadovaI-35131 Italy Istituto Nazionale di Fisica Nucleare Sezione di Pisa PisaI-56127 Italy California State University Los Angeles Department of Physics and Astronomy Los AngelesCA90032 United States Dipartimento di Fisica Università degli Studi di Perugia PerugiaI-06123 Italy Dipartimento di Fisica "M. Merlin" Università e del Politecnico di Bari via Amendola 173 BariI-70126 Italy Istituto Nazionale di Fisica Nucleare Sezione di Bari BariI-70126 Italy W. W. Hansen Experimental Physics Laboratory Kavli Institute for Particle Astrophysics and Cosmology Department of Physics SLAC National Accelerator Laboratory Stanford University StanfordCA94305 United States Istituto Nazionale di Fisica Nucleare Sezione di Torino TorinoI-10125 Italy Dipartimento di Fisica Università degli Studi di Torino TorinoI-10125 Italy NASA Postdoctoral Program NASA Goddard Space Flight Center GreenbeltMD20771 United States Department of Physics University of the Free State P.O. Box 339 Bloemfontein9300 South Africa Laboratoire Leprince-Ringuet École Polytechnique CNRS IN2P3 PalaiseauF-91128 France Department of Physics University of Washington SeattleWA98195-1560 United States Institut für Theoretische Physik and Astrophysik Universität Würzburg WürzburgD-97074 Germany NASA Goddard Space Flight Center GreenbeltMD20771 United States INAF-Istituto di Astrofisica Spaziale e Fisica Cosmica Milano via E. Bassini 15 MilanoI-20133 Italy Harvard-Smithsoni

We present an incremental version (4FGL-DR3, for Data Release 3) of the fourth Fermi-LAT catalog of γ-ray sources. Based on the first twelve years of science data in the energy range from 50 MeV to 1 TeV, it contains 6658 sources. The analysis improves on that used for the 4FGL catalog over eight years of data: more sources are fit with curved spectra, we introduce a more robust spectral parameterization for pulsars, and we extend the spectral points to 1 TeV. The spectral parameters, spectral energy distributions, and associations are updated for all sources. Light curves are rebuilt for all sources with 1 yr intervals (not 2 month intervals). Among the 5064 original 4FGL sources, 16 were deleted, 112 are formally below the detection threshold over 12 yr (but are kept in the list), while 74 are newly associated, 10 have an improved association, and seven associations were withdrawn. Pulsars are split explicitly between young and millisecond pulsars. Pulsars and binaries newly detected in LAT sources, as well as more than 100 newly classified blazars, are reported. We add three extended sources and 1607 new point sources, mostly just above the detection threshold, among which eight are considered identified, and 699 have a plausible counterpart at other wavelengths. We discuss the degree-scale residuals to the global sky model and clusters of soft unassociated point sources close to the Galactic plane, which are possibly related to limitations of the interstellar emission model and missing extended sources. © 2022, CC BY.

关键词： Pulsars

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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (vol 50, pg 1412, 2018)

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NATURE GENETICS 2018年第12期50卷 1755-1755页

作者： Evangelou, Evangelos Warren, Helen R. Mosen-Ansorena, David Mifsud, Borbala Pazoki, Raha Gao, He Ntritsos, Georgios Dimou, Niki Cabrera, Claudia P. Karaman, Ibrahim Fu Liang Ng Evangelou, Marina Witkowska, Katarzyna Tzanis, Evan Hellwege, Jacklyn N. Giri, Ayush Edwards, Digna R. Velez Sun, Yan V. Cho, Kelly Gaziano, J. Michael Wilson, Peter W. F. Tsao, Philip S. Kovesdy, Csaba P. Esko, Tonu Magi, Reedik Milani, Lili Almgren, Peter Boutin, Thibaud Debette, Stephanie Ding, Jun Giulianini, Franco Holliday, Elizabeth G. Jackson, Anne U. Li-Gao, Ruifang Lin, Wei-Yu Luan, Jian'an Mangino, Massimo Oldmeadow, Christopher Prins, Bram Peter Qian, Yong Sargurupremraj, Muralidharan Shah, Nabi Surendran, Praveen Theriault, Sebastien Verweij, Niek Willems, Sara M. Zhao, Jing-Hua Amouyel, Philippe Connell, John de Mutsert, Renee Doney, Alex S. F. Farrall, Martin Menni, Cristina Morris, Andrew D. Noordam, Raymond Pare, Guillaume Poulter, Neil R. Shields, Denis C. Stanton, Alice Thom, Simon Abecasis, Goncalo Amin, Najaf Arking, Dan E. Ayers, Kristin L. Barbieri, Caterina M. Batini, Chiara Bis, Joshua C. Blake, Tineka Bochud, Murielle Boehnke, Michael Boerwinkle, Eric Boomsma, Dorret I. Bottinger, Erwin P. Braund, Peter S. Brumat, Marco Campbell, Archie Campbell, Harry Chakravarti, Aravinda Chambers, John C. Chauhan, Ganesh Ciullo, Marina Cocca, Massimiliano Collins, Francis Cordell, Heather J. Davies, Gail de Borst, Martin H. de Geus, Eco J. Deary, Ian J. Deelen, Joris Del Greco, Fabiola M. Demirkale, Cumhur Yusuf Dorr, Marcus Ehret, Georg B. Elosua, Roberto Enroth, Stefan Erzurumluoglu, A. Mesut Ferreira, Teresa Franberg, Mattias Franco, Oscar H. Gandin, Ilaria Gasparini, Paolo Giedraitis, Vilmantas Gieger, Christian Girotto, Giorgia Goel, Anuj Gow, Alan J. Gudnason, Vilmundur Guo, Xiuqing Gyllensten, Ulf Hamsten, Anders Harris, Tamara B. Harris, Sarah E. Hartman, Catharina A. Havulinna, Aki S. Hicks, Andrew A. Hofer, Edith Hofman, Albert Hottenga, Jouke-Jan Huffman, Jennifer E. Hwang, Shih-Jen Ingelsson, Erik James, Alan Jansen Department of Epidemiology and Biostatistics Imperial College London London UK Department of Hygiene and Epidemiology University of Ioannina Medical School Ioannina Greece William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK National Institute for Health Research Barts Cardiovascular Biomedical Research Center Queen Mary University of London London UK MRC-PHE Centre for Environment and Health Imperial College London London UK Department of Mathematics Imperial College London London UK Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Medical Center Tennessee Valley Healthcare System (626)/Vanderbilt University Nashville TN USA Vanderbilt Genetics Institute Vanderbilt Epidemiology Center Department of Obstetrics and Gynecology Vanderbilt University Medical Center Tennessee Valley Health Systems VA Nashville TN USA Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA Department of Biomedical Informatics Emory University School of Medicine Atlanta GA USA Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA Division of Aging Department of Medicine Brigham and Women’s Hospital Department of Medicine Harvard Medical School Boston MA USA Atlanta VAMC and Emory Clinical Cardiovascular Research Institute Atlanta GA USA VA Palo Alto Health Care System Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA Nephrology Section Memphis VA Medical Center and University of Tennessee Health Science Center Memphis TN USA Estonian Genome Center University of Tartu Tartu Estonia Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Department Clinical Sciences Malmö Lund University Malmö Sweden MRC Human Genetics Un

High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.

关键词： Cardiovascular diseases Genome informatics Genome-wide association studies

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Correction: Ketogenic Diet as Medical Prescription in Women with Polycystic Ovary Syndrome (PCOS)

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Current nutrition reports 2023年第1期12卷 65页

作者： Luigi Barrea Ludovica Verde Elisabetta Camajani Simona Cernea Evelyn Frias-Toral Dilusha Lamabadusuriya Florencia Ceriani Silvia Savastano Annamaria Colao Giovanna Muscogiuri Dipartimento di Scienze Umanistiche Università Telematica Pegaso Via Porzio Centro isola F2 80143 Naples Italy. Centro Italiano per la cura e il Benessere del paziente con Obesità (C.I.B.O) Department of Clinical Medicine and Surgery Endocrinology Unit University Medical School of Naples Via Sergio Pansini 5 80131 Naples Italy. Department of Public Health University of Naples Federico II Naples Italy. Department of Human Sciences and Promotion of the Quality of Life San Raffaele Open University 00166 Rome Italy. PhD Program in Endocrinological Sciences Department of Experimental Medicine University of Rome "La Sapienza" Piazzale Aldo Moro 5 00185 Rome Italy. George Emil Palade University of Medicine Pharmacy Science and Technology of Târgu Mures/Internal Medicine I Târgu Mureş Romania. Diabetes Nutrition and Metabolic Diseases Outpatient Unit Emergency County Clinical Hospital Târgu Mureş Romania. Universidad Católica Santiago de Guayaquil Guayaquil Ecuador. University Hospital General Sir John Kotelawala Defence University Boralesgamuwa Sri Lanka. Nutrition School Universidad de la Republica (UdelaR) Montevideo Uruguay. Dipartimento di Medicina Clinica e Chirurgia Unit of Endocrinology Federico II University Medical School of Naples Via Sergio Pansini 5 80131 Naples Italy. Cattedra Unesco "Educazione alla salute e allo sviluppo sostenibile" Federico II University Naples Italy. Centro Italiano per la cura e il Benessere del paziente con Obesità (C.I.B.O) Department of Clinical Medicine and Surgery Endocrinology Unit University Medical School of Naples Via Sergio Pansini 5 80131 Naples Italy. giovanna.muscogiuri@unina.it. Dipartimento di Medicina Clinica e Chirurgia Unit of Endocrinology Federico II University Medical School of Naples Via Sergio Pansini 5 80131 Naples Italy. giovanna.muscogiuri@unina.it. Cattedra Unesco "Educazione alla salute e allo sviluppo sostenibile" Federico II University Naples Italy. giovanna.muscogiuri@unina.it.

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Dense sampling of bird diversity increases power of comparative genomics (vol 587, pg 252, 2020)

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NATURE 2021年第7856期592卷 E24-E24页

作者： Feng, Shaohong Stiller, Josefin Deng, Yuan Armstrong, Joel Fang, Qi Reeve, Andrew Hart Xie, Duo Chen, Guangji Guo, Chunxue Faircloth, Brant C. Petersen, Bent Wang, Zongji Zhou, Qi Diekhans, Mark Chen, Wanjun Andreu-Sanchez, Sergio Margaryan, Ashot Howard, Jason Travis Parent, Carole Pacheco, George Sinding, Mikkel-Holger S. Puetz, Lara Cavill, Emily Ribeiro, Angela M. Eckhart, Leopold Fjeldsa, Jon Hosner, Peter A. Brumfield, Robb T. Christidis, Les Bertelsen, Mads F. Sicheritz-Ponten, Thomas Tietze, Dieter Thomas Robertson, Bruce C. Song, Gang Borgia, Gerald Claramunt, Santiago Lovette, Irby J. Cowen, Saul J. Njoroge, Peter Dumbacher, John Philip Ryder, Oliver A. Fuchs, Jerome Bunce, Michael Burt, David W. Cracraft, Joel Meng, Guanliang Hackett, Shannon J. Ryan, Peter G. Jonsson, Knud Andreas Jamieson, Ian G. da Fonseca, Rute R. Braun, Edward L. Houde, Peter Mirarab, Siavash Suh, Alexander Hansson, Bengt Ponnikas, Suvi Sigeman, Hanna Stervander, Martin Frandsen, Paul B. van der Zwan, Henriette van der Sluis, Rencia Visser, Carina Balakrishnan, Christopher N. Clark, Andrew G. Fitzpatrick, John W. Bowman, Reed Chen, Nancy Cloutier, Alison Sackton, Timothy B. Edwards, Scott V. Foote, Dustin J. Shakya, Subir B. Sheldon, Frederick H. Vignal, Alain Soares, Andre E. R. Shapiro, Beth Gonzalez-Solis, Jacob Ferrer-Obiol, Joan Rozas, Julio Riutort, Marta Tigano, Anna Friesen, Vicki Dalen, Love Urrutia, Araxi O. Szekely, Tamas Liu, Yang Campana, Michael G. Corvelo, Andre Fleischer, Robert C. Rutherford, Kim M. Gemmell, Neil J. Dussex, Nicolas Mouritsen, Henrik Thiele, Nadine Delmore, Kira Liedvogel, Miriam Franke, Andre Hoeppner, Marc P. Krone, Oliver Fudickar, Adam M. Mila, Borja Ketterson, Ellen D. Fidler, Andrew Eric Friis, Guillermo Parody-Merino, Angela M. Battley, Phil F. Cox, Murray P. Lima, Nicholas Costa Barroso Prosdocimi, Francisco Parchman, Thomas Lee Schlinger, Barney A. Loiselle, Bette A. Blake, John G. Lim, Haw Chuan Day, Lainy B. Fuxjager, Matthew J. Baldwin, Maude W. Braun, Michael J. Wirthlin, Morgan Dikow, China National GeneBank BGI-Shenzhen Shenzhen China State Key Laboratory of Genetic Resources and Evolution Kunming Institute of Zoology Chinese Academy of Sciences Kunming China BGI-Shenzhen Shenzhen China Villum Centre for Biodiversity Genomics Section for Ecology and Evolution Department of Biology University of Copenhagen Copenhagen Denmark BGI Education Center University of Chinese Academy of Sciences Shenzhen China MOE Laboratory of Biosystems Homeostasis and Protection Life Sciences Institute Zhejiang University Hangzhou China Department of Neuroscience and Developmental Biology University of Vienna Vienna Austria Center for Excellence in Animal Evolution and Genetics Chinese Academy of Sciences Kunming China James D. Watson Institute of Genome Sciences Hangzhou China UC Santa Cruz Genomics Institute UC Santa Cruz Santa Cruz CA USA Natural History Museum of Denmark University of Copenhagen Copenhagen Denmark Center for Macroecology Evolution and Climate GLOBE Institute University of Copenhagen Copenhagen Denmark Department of Biological Sciences Louisiana State University Baton Rouge LA USA Museum of Natural Science Louisiana State University Baton Rouge LA USA Centre of Excellence for Omics-Driven Computational Biodiscovery (COMBio) Faculty of Applied Sciences AIMST University Kedah Malaysia Section for Evolutionary Genomics The GLOBE Institute Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Institute of Molecular Biology National Academy of Sciences Yerevan Armenia University Museum Norwegian University of Science and Technology Trondheim Norway Center for Reproductive Medicine The 2nd Affiliated Hospital School of Medicine Zhejiang University Hangzhou China Novogene Durham NC USA Duke University Medical Center Durham NC USA The Rockefeller University New York NY USA Howard Hughes Medical Institute Chevy Chase MD USA Department of Dermatology Medical University of Vienna Vienna Austria

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AI is a viable alternative to high throughput screening: a 318-target study

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Scientific reports 2024年第1期14卷 7526-7526页

作者： Izhar Wallach Denzil Bernard Kong Nguyen Gregory Ho Adrian Morrison Adrian Stecula Andreana Rosnik Ann Marie O’Sullivan Aram Davtyan Ben Samudio Bill Thomas Brad Worley Brittany Butler Christian Laggner Desiree Thayer Ehsan Moharreri Greg Friedland Ha Truong Henry van den Bedem Ho Leung Ng Kate Stafford Krishna Sarangapani Kyle Giesler Lien Ngo Michael Mysinger Mostafa Ahmed Nicholas J. Anthis Niel Henriksen Pawel Gniewek Sam Eckert Saulo de Oliveira Shabbir Suterwala Srimukh Veccham Krishna PrasadPrasad Stefani Shek Stephanie Contreras Stephanie Hare Teresa Palazzo Terrence E. O’Brien Tessa Van Grack Tiffany Williams Ting-Rong Chern Victor Kenyon Abraham Heifets Andreia H. Lee Andrew B. Cann Bastiaan Bergman Brandon M. Anderson Bryan D. Cox Jeffrey M. Warrington Jon M. Sorenson Joshua M. Goldenberg Matthew A. Young Tigran M. Abramyan Nicholas DeHaan Ryan P. Pemberton Stefan Schroedl Tushita Gupta Venkatesh Mysore Adam G. Presser Eric J. Rubin Adolfo A. Ferrando Angelo Taglialatela Clara Reglero Giuseppe Leuzzi Hui Zhou Joseph B. Rayman Manu Ben-Johny Adriano D. Andricopulo Guilherme Eduardo de Souza Marilia Valli Rafael V. C. Guido Agnidipta Ghosh Ashleigh S. Paparella Bogos Agianian Evripidis Gavathiotis Niusha Mahmoodi Rajesh K. Harijan Aicha Gharbi Ayachi Dahai Luo Julien Lescar Nguyen Mai Trinh Nikhil Bharambe Zara Chung Aisha Mushtaq Ala M. Shaqra Alan Kie Leong Toh Erik W. Thompson Larisa M. Haupt Neha S. Gandhi Alan V. Smrcka Alberto Ciccia Charles Karan Hai Li Howard B. Lieberman Kevin M. Hopkins Zhiguo Zhang Aldo Sena de Oliveira Aleksandr Sverzhinsky John M. Pascal Alessandra Mara de Sousa Paulo Otávio Lourenço Moreira Rubens Lima do Monte-Neto Alexander I. Agoulnik Courtney Myhr Alexander Kushnir Alexander N. Freiberg Bin Gong Cigdem Alkan Jia Zhou Kathryn A. Cunningham Noelle C. Anastasio Olivier Escaffre Tetsuro Ikegami Zhengchen Su Alexander V. Statsyuk Alexandre R. Gingras Amit K. Patel Anthony J. O’Donoghue Brendan M. Duggan Carlo Ballatore Derek S. Welsbie Evgenia Glukhov Jair L. Siqueira-Neto J Atomwise Inc. San Fransico USA Amgen Thousand Oaks USA OpenAI San Francisco USA Model Medicines La Jolla USA Atomic.AI San Francisco USA Edifice Health Inc. San Mateo USA METiS Therapeutics Cambridge USA Genentech San Mateo USA US Navy Medical Service Corps Officer (2300/1810D) San Mateo USA Totus Medicines Inc. Emeryville USA The University of North Carolina at Chapel Hill Eshelman School of Pharmacy Chapel Hill USA Cytokinetics Inc. South San Francisco USA Nurix Therapeutics San Francisco USA Amazon Alexa Suite USA Refibered Inc. Cupertino USA NVIDIA Santa Clara USA Harvard TH Chan School of Public Health Boston USA Columbia University New York USA University of São Paulo São Paulo Brazil Albert Einstein College of Medicine Bronx USA Nanyang Technological University Singapore Singapore University of Washington Seattle USA Chan Medical School University of Massachusetts Worcester USA Queensland University of Technology Brisbane USA University of Michigan Medical School Ann Arbor USA Columbia University Irving Medical Center New York USA Universidade Federal de Santa Catarina Florianópolis Brazil Université de Montréal Montreal Canada Instituto René Rachou-Fundação Oswaldo Cruz/Fiocruz Minas Belo Horizonte Brazil Herbert Wertheim College of Medicine Biomolecular Science Institute Florida International University Miami USA NYU Langone Health New York USA The University of Texas Medical Branch at Galveston Galveston USA University of Houston Galveston USA University of California San Diego USA School of Medicine Tufts University Medford USA University of California Davis Davis USA University of Western Australia Crawley Australia University of Groningen Groningen The Netherlands Wayne State University Detroit USA University of Zurich Zürich Switzerland Stanford University Stanford USA University of Antwerp Antwerp Belgium University of Rome Tor Vergata Rome Italy University of Edinburgh Edinburgh UK Department of Plant M

High throughput screening (HTS) is routinely used to identify bioactive small molecules. This requires physical compounds, which limits coverage of accessible chemical space. Computational approaches combined with vast on-demand chemical libraries can access far greater chemical space, provided that the predictive accuracy is sufficient to identify useful molecules. Through the largest and most diverse virtual HTS campaign reported to date, comprising 318 individual projects, we demonstrate that our AtomNet® convolutional neural network successfully finds novel hits across every major therapeutic area and protein class. We address historical limitations of computational screening by demonstrating success for target proteins without known binders, high-quality X-ray crystal structures, or manual cherry-picking of compounds. We show that the molecules selected by the AtomNet® model are novel drug-like scaffolds rather than minor modifications to known bioactive compounds. Our empirical results suggest that computational methods can substantially replace HTS as the first step of small-molecule drug discovery. © 2024. The Author(s).

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Celebrating the fifth edition of the International Symposium on Fungal Stress – ISFUS, a decade after its 2014 debut

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Fungal Biology 2025年第5期129卷

作者： Alene Alder-Rangel Amanda E.A. Rangel Arturo Casadevall Asiya Gusa Chaoyang Xue Charles M. Boone Chris Todd Hittinger Claudio A. Masuda Consuelo Olivares-Yañez Deborah Bell-Pedersen Erica J. Washington Gerhard Braus Guilhem Janbon István Pócsi Jason E. Stajich Jay C. Dunlap Joan W. Bennett Joseph Heitman Ling Lu Lucia Landi Drauzio E.N. Rangel Alder's English Services São José dos Campos SP Brazil Escola Estadual Marechal Rondon São José dos Campos SP Brazil Department of Molecular Microbiology and Immunology Johns Hopkins University Baltimore MD USA Department of Molecular Genetics and Microbiology Duke University Durham NC USA Public Health Research Institute Department of Microbiology Biochemistry and Molecular Genetics New Jersey Medical School Rutgers University Newark NJ USA Department of Molecular Genetics University of Toronto Toronto ON Canada Laboratory of Genetics DOE Great Lakes Bioenergy Research Center Wisconsin Energy Institute Center for Genomic Science Innovation J. F. Crow Institute for the Study of Evolution University of Wisconsin–Madison Madison WI USA Instituto de Bioquímica Médica Leopoldo de Meis Programa de Biologia Molecular e Biotecnologia Universidade Federal do Rio de Janeiro Rio de Janeiro RJ Brazil Centro de Genómica y Bioinformática Facultad de Ciencias Ingeniería y Tecnología Universidad Mayor Santiago Chile ANID-Millennium Science Initiative Program – Millennium Institute for Integrative Biology (iBio) Santiago 8331150 Chile Department of Biology Texas A&M University College Station TX USA Institute for Microbiology and Genetics Department of Molecular Microbiology and Genetics Goettingen Center for Molecular Biosciences University of Goettingen Goettingen Germany Institut Pasteur Université Paris Cité Unité Biologie des ARN des Pathogènes Fongiques Département de Mycologie F-75015 Paris France Department of Molecular Biotechnology and Microbiology Institute of Biotechnology Faculty of Science and Technology University of Debrecen Debrecen Hungary and HUN-REN-UD Fungal Stress Biology Research Group Debrecen Hungary Department of Microbiology and Plant Pathology University of California Riverside CA USA Department of Molecular & Systems Biology Geisel School of Medicine at Dartmouth Hanover NH USA Department of Biochemistry and Microbiology Ru

The Fifth International Symposium on Fungal Stress (ISFUS) brought together in Brazil many of the leaders in the field of fungal stress responses, from fourteen countries, for four days of outstanding science ranging from basic research to studies with agricultural, medical, industrial, and environmental significance. In addition to the excellent oral and poster presentations, the Symposium organisers ensured that all participants had ample opportunity to engage, socialise, and network to exchange ideas and share research. The conference was enhanced by the world-class venue near Iguazu Falls, probably the greatest natural phenomenon in South America.

关键词： Fungal stress responses Priming Biotechnology Fungal survival mechanisms Mycoremediation Fungal stress in agriculture Fungal stress in medicine Fungal stress in industry

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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (vol 50, pg 765, 2017)

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NATURE GENETICS 2018年第5期50卷 765-766页

作者： Turcot, Valerie Lu, Yingchang Highland, Heather M. Schurmann, Claudia Justice, Anne E. Fine, Rebecca S. Bradfield, Jonathan P. Esko, Tonu Giri, Ayush Graff, Mariaelisa Guo, Xiuqing Hendricks, Audrey E. Karaderi, Tugce Lempradl, Adelheid Locke, Adam E. Mahajan, Anubha Marouli, Eirini Sivapalaratnam, Suthesh Young, Kristin L. Alfred, Tamuno Feitosa, Mary F. Masca, Nicholas G. D. Manning, Alisa K. Medina-Gomez, Carolina Mudgal, Poorva Ng, Maggie C. Y. Reiner, Alex P. Vedantam, Sailaja Willems, Sara M. Winkler, Thomas W. Abecasis, Goncalo Aben, Katja K. Alam, Dewan S. Alharthi, Sameer E. Allison, Matthew Amouyel, Philippe Asselbergs, Folkert W. Auer, Paul L. Balkau, Beverley Bang, Lia E. Barroso, Ines Bastarache, Lisa Benn, Marianne Bergmann, Sven Bielak, Lawrence F. Bluher, Matthias Boehnke, Michael Boeing, Heiner Boerwinkle, Eric Boger, Carsten A. Bork-Jensen, Jette Bots, Michiel L. Bottinger, Erwin P. Bowden, Donald W. Brandslund, Ivan Breen, Gerome Brilliant, Murray H. Broer, Linda Brumat, Marco Burt, Amber A. Butterworth, Adam S. Campbell, Peter T. Cappellani, Stefania Carey, David J. Catamo, Eulalia Caulfield, Mark J. Chambers, John C. Chasman, Daniel I. Chen, Yii-Der I. Chowdhury, Rajiv Christensen, Cramer Chu, Audrey Y. Cocca, Massimiliano Collins, Francis S. Cook, James P. Corley, Janie Galbany, Jordi Corominas Cox, Amanda J. Crosslin, David S. Cuellar-Partida, Gabriel D'Eustacchio, Angela Danesh, John Davies, Gail Bakker, Paul I. W. Groot, Mark C. H. Mutsert, Renee Deary, Ian J. Dedoussis, George Demerath, Ellen W. Heijer, Martin Hollander, Anneke I. Ruijter, Hester M. Dennis, Joe G. Denny, Josh C. Angelantonio, Emanuele Drenos, Fotios Du, Mengmeng Dube, Marie-Pierre Dunning, Alison M. Easton, Douglas F. Edwards, Todd L. Ellinghaus, David Ellinor, Patrick T. Elliott, Paul Evangelou, Evangelos Farmaki, Aliki-Eleni Farooqi, I. Sadaf Faul, Jessica D. Fauser, Sascha Feng, Shuang Ferrannini, Ele Ferrieres, Jean Florez, Jose C. Ford, Ian Fornage, Myriam Franco, Oscar H. Franke, Andre Franks, Paul W. Friedrich, Ne Montreal Heart Institute Université de Montréal Montreal Quebec Canada Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University School of Medicine Nashville TN USA Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York NY USA Genetics of Obesity and Related Metabolic Traits Program Icahn School of Medicine at Mount Sinai New York NY USA Department of Epidemiology University of North Carolina Chapel Hill NC USA Human Genetics Center University of Texas School of Public Health University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences University of Texas Health Science Center at Houston Houston TX USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Genetics Harvard Medical School Boston MA USA Division of Endocrinology and Center for Basic and Translational Obesity Research Boston Children’s Hospital Boston MA USA Center for Applied Genomics Division of Human Genetics Children’s Hospital of Philadelphia Philadelphia PA USA Quantinuum Research LLC San Diego CA USA Estonian Genome Center University of Tartu Tartu Estonia Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Nashville TN USA Institute for Translational Genomics and Population Sciences LABioMed at Harbor-UCLA Medical Center Torrance CA USA Wellcome Trust Sanger Institute Hinxton UK Department of Mathematical and Statistical Sciences University of Colorado Denver CO USA Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK Department of Biological Sciences Faculty of Arts and Sciences Eastern Mediterranean University Famagusta Cyprus Max Planck Institute of Immunobiology and Epigenetics Freiburg Germany Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (***35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

关键词： Genome-wide association studies Obesity

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