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Patterns of somatic structural variation in human cancer genomes (vol 578, pg 112, 2020)

NATURE 2023年第7948期614卷 E38-E38页

作者： Li, Yilong Roberts, Nicola D. Wala, Jeremiah A. Shapira, Ofer Schumacher, Steven E. Kumar, Kiran Khurana, Ekta Waszak, Sebastian Korbel, Jan O. Haber, James E. Imielinski, Marcin Weischenfeldt, Joachim Beroukhim, Rameen Campbell, Peter J. Cancer Genome Project Wellcome Trust Sanger Institute Hinxton UK Totient Inc Cambridge MA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Haematology University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Korea Advanced Institute of Science and Technology Daejeon South Korea Department of Zoology Genetics and Physical Anthropology University of Santiago de Compostela Santiago de Compostela Spain Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) University of Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain Centre for Research in Molecular Medicine and Chronic Diseases (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain Department of Zoology Genetics and Physical Anthropology (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain The Broad Institute of Harvard and MIT Cambridge MA USA Bioinformatics and Integrative Genomics Harvard University Cambridge MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Harvard Medical School Boston MA USA Massachusetts General Hospital Center for Cancer Research Charlestown MA USA Dana-Farber Cancer Institute Boston MA USA Department of Biostatistics and Computational Biology Dana-Farber Cancer Institute and Harvard Medical School Boston MA USA Weill Cornell Medical College New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine Ne

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Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021

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The Lancet 2023年第10397期402卷 203-234页

作者： Ong, Kanyin Liane Stafford, Lauryn K. McLaughlin, Susan A. Boyko, Edward J. Vollset, Stein Emil Smith, Amanda E. Dalton, Bronte E. Duprey, Joe Cruz, Jessica A. Hagins, Hailey Lindstedt, Paulina A. Aali, Amirali Abate, Yohannes Habtegiorgis Abate, Melsew Dagne Abbasian, Mohammadreza Abbasi-Kangevari, Zeinab Abbasi-Kangevari, Mohsen ElHafeez, Samar Abd Abd-Rabu, Rami Abdulah, Deldar Morad Abdullah, Abu Yousuf Md Abedi, Vida Abidi, Hassan Aboagye, Richard Gyan Abolhassani, Hassan Abu-Gharbieh, Eman Abu-Zaid, Ahmed Adane, Tigist Demssew Adane, Denberu Eshetie Addo, Isaac Yeboah Adegboye, Oyelola A. Adekanmbi, Victor Adepoju, Abiola Victor Adnani, Qorinah Estiningtyas Sakilah Afolabi, Rotimi Felix Agarwal, Gina Aghdam, Zahra Babaei Agudelo-Botero, Marcela Arriagada, Constanza Elizabeth Aguilera Agyemang-Duah, Williams Ahinkorah, Bright Opoku Ahmad, Danish Ahmad, Rizwan Ahmad, Sajjad Ahmad, Aqeel Ahmadi, Ali Ahmadi, Keivan Ahmed, Ali Ahmed, Luai A. Ahmed, Syed Anees Ajami, Marjan Akinyemi, Rufus Olusola Al Hamad, Hanadi Al Hasan, Syed Mahfuz AL-Ahdal, Tareq Mohammed Ali Alalwan, Tariq A. Al-Aly, Ziyad AlBataineh, Mohammad T. Alcalde-Rabanal, Jacqueline Elizabeth Alemi, Sharifullah Ali, Hassam Alinia, Tahereh Aljunid, Syed Mohamed Almustanyir, Sami Al-Raddadi, Rajaa M. Alvis-Guzman, Nelson Amare, Firehiwot Ameyaw, Edward Kwabena Amiri, Sohrab Amusa, Ganiyu Adeniyi Andrei, Catalina Liliana Anjana, Ranjit Mohan Ansar, Adnan Ansari, Golnoosh Ansari-Moghaddam, Alireza Anyasodor, Anayochukwu Edward Arabloo, Jalal Aravkin, Aleksandr Y. Areda, Demelash Arifin, Hidayat Arkew, Mesay Armocida, Benedetta Arnlov, Johan Artamonov, Anton A. Arulappan, Judie Aruleba, Raphael Taiwo Arumugam, Ashokan Aryan, Zahra Asemu, Mulu Tiruneh Asghari-Jafarabadi, Mohammad Askari, Elaheh Asmelash, Daniel Astell-Burt, Thomas Athar, Mohammad Athari, Seyyed Shamsadin Atout, Maha Moh'd Wahbi Avila-Burgos, Leticia Awaisu, Ahmed Azadnajafabad, Sina Darshan, B.B. Babamohamadi, Hassan Badar, Muhammad Badawi, Alaa Badiye, Ashish D. Baghcheghi, Nayereh Baghe Institute for Health Metrics and Evaluation School of Medicine General Medicine Service Department of Veterans Affairs Seattle WA United States Department of Health Metrics Sciences School of Medicine Faculty of Medicine France Department of Clinical Governance and Quality Improvement Aleta Wondo Hospital Aleta Wondo Ethiopia Department of Nursing Woldia University Woldia Ethiopia Department of Nursing Department of Orthopedic Surgery Orthopaedic Surgery Social Determinants of Health Research Center Non-communicable Diseases Research Center Epidemiology Department Evidence-Based Practice Center Community and Maternity Nursing Unit University of Duhok Duhok Iraq School of Planning Faculty of Environment Department of Public Health Sciences Penn State College of Medicine Pennsylvania State University Hershey PA United States Biocomplexity Institute Virginia Tech Blacksburg VA United States College of Medicine Department of Public Health Laboratory Technology Sciences Department Department of Family and Community Health University of Health and Allied Sciences Ho Ghana Research Center for Immunodeficiencies Department of Biosciences and Nutrition Karolinska University Hospital Huddinge Sweden Clinical Sciences Department Department of Surgery Department of Surgery Department of Obstetrics & Gynecology College of Graduate Health Sciences University of Tennessee Memphis TN United States Department of Obstetrics & Gynecology Department of Clinical and Psychosocial Epidemiology Department of Anesthesia and Critical Care Centre for Social Research in Health Quality and Systems Performance Unit Cancer Institute NSW Sydney NSW Australia Department of Public Health and Tropical Medicine HIV and Infectious Diseases Department Jhpiego Abuja Nigeria Adolescent Research and Care Department Adolescent Friendly Research Initiative and Care Ado Ekiti Nigeria Department of Epidemiology Department of Epidemiology and Medical Statistics Department of Family Medicine McMaster University

Background: Diabetes is one of the leading causes of death and disability worldwide, and affects people regardless of country, age group, or sex. Using the most recent evidentiary and analytical framework from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD), we produced location-specific, age-specific, and sex-specific estimates of diabetes prevalence and burden from 1990 to 2021, the proportion of type 1 and type 2 diabetes in 2021, the proportion of the type 2 diabetes burden attributable to selected risk factors, and projections of diabetes prevalence through 2050. Methods: Estimates of diabetes prevalence and burden were computed in 204 countries and territories, across 25 age groups, for males and females separately and combined;these estimates comprised lost years of healthy life, measured in disability-adjusted life-years (DALYs;defined as the sum of years of life lost [YLLs] and years lived with disability [YLDs]). We used the Cause of Death Ensemble model (CODEm) approach to estimate deaths due to diabetes, incorporating 25 666 location-years of data from vital registration and verbal autopsy reports in separate total (including both type 1 and type 2 diabetes) and type-specific models. Other forms of diabetes, including gestational and monogenic diabetes, were not explicitly modelled. Total and type 1 diabetes prevalence was estimated by use of a Bayesian meta-regression modelling tool, DisMod-MR 2.1, to analyse 1527 location-years of data from the scientific literature, survey microdata, and insurance claims;type 2 diabetes estimates were computed by subtracting type 1 diabetes from total estimates. Mortality and prevalence estimates, along with standard life expectancy and disability weights, were used to calculate YLLs, YLDs, and DALYs. When appropriate, we extrapolated estimates to a hypothetical population with a standardised age structure to allow comparison in populations with different age structures. We used the comparative r

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Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1-64.e8]

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Journal of pediatric urology 2021年第4期17卷 e1页

作者： Katherine L Ludorf Renata H Benjamin Maria Luisa Navarro Sanchez Scott D McLean Hope Northrup Laura E Mitchell Peter H Langlois Mark A Canfield Angela E Scheuerle Daryl A Scott Christian P Schaaf Joseph W Ray Omobola Oluwafemi Han Chen Michael D Swartz Philip J Lupo A J Agopian Department of Epidemiology Human Genetics and Environmental Sciences UTHealth School of Public Health Houston TX USA. Clinical Genetics Section The Children's Hospital of San Antonio San Antonio TX USA. Department of Pediatrics Division of Medical Genetics McGovern Medical School University of Texas Health Science Center at Houston Houston TX USA. Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services Austin TX USA. Department of Pediatrics Division of Genetics and Metabolism University of Texas Southwestern Medical Center Dallas TX USA. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Department of Molecular Physiology and Biophysics Baylor College of Medicine Houston TX USA. Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston TX USA Heidelberg University Institute of Human Genetics Heidelberg Germany. Department of Pediatrics Division of Medical Genetics and Metabolism University of Texas Medical Branch Galveston TX USA. Department of Epidemiology Human Genetics and Environmental Sciences UTHealth School of Public Health Houston TX USA Center for Precision Health UTHealth School of Public Health and UTHealth School of Biomedical Informatics Houston TX USA. Department of Biostatistics and Data Science UTHealth School of Public Health Houston TX USA. Department of Pediatrics Section of Hematology-Oncology Baylor College of Medicine Houston TX USA. Department of Epidemiology Human Genetics and Environmental Sciences UTHealth School of Public Health Houston TX USA. Electronic address: a.j.agopian@uth.tmc.edu.

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Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology (vol 13, 634, 2022)

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NATURE COMMUNICATIONS 2022年第1期13卷 1-13页

作者： Bjornsdottir, Gyda Stefansdottir, Lilja Thorleifsson, Gudmar Sulem, Patrick Norland, Kristjan Ferkingstad, Egil Oddsson, Asmundur Zink, Florian Lund, Sigrun H. Nawaz, Muhammad S. Walters, G. Bragi Skuladottir, Astros Th. Gudjonsson, Sigurjon A. Einarsson, Gudmundur Halldorsson, Gisli H. Bjarnadottir, Valgerdur Sveinbjornsson, Gardar Helgadottir, Anna Styrkarsdottir, Unnur Gudmundsson, Larus J. Pedersen, Ole B. Hansen, Thomas Folkmann Werge, Thomas Banasik, Karina Troelsen, Anders Skou, Soren T. Thorner, Lise Wegner Erikstrup, Christian Nielsen, Kaspar Rene Mikkelsen, Susan Jonsdottir, Ingileif Bjornsson, Aron Olafsson, Ingvar H. Ulfarsson, Elfar Blondal, Josep Vikingsson, Arnor Brunak, Soren Ostrowski, Sisse R. Ullum, Henrik Thorsteinsdottir, Unnur Stefansson, Hreinn Gudbjartsson, Daniel F. Thorgeirsson, Thorgeir E. Stefansson, Kari deCODE Genetics/Amgen Inc. Reykjavik Iceland (GRID:grid.421812.c) (ISNI:0000 0004 0618 6889) deCODE Genetics/Amgen Inc. Reykjavik Iceland (GRID:grid.421812.c) (ISNI:0000 0004 0618 6889) University of Iceland Faculty of Medicine School of Health Sciences Reykjavik Iceland (GRID:grid.14013.37) (ISNI:0000 0004 0640 0021) deCODE Genetics/Amgen Inc. Reykjavik Iceland (GRID:grid.421812.c) (ISNI:0000 0004 0618 6889) University of Iceland School of Engineering and Natural Sciences Reykjavik Iceland (GRID:grid.14013.37) (ISNI:0000 0004 0640 0021) Landspitali University Hospital Reykjavik Iceland (GRID:grid.410540.4) (ISNI:0000 0000 9894 0842) Zealand University Hospital Department of Clinical Immunology Køge Denmark (GRID:grid.512923.e) (ISNI:0000 0004 7402 8188) University of Copenhagen Department of Clinical Medicine Faculty of Health and Medical Sciences Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001 0674 042X) Rigshospitalet-Glostrup Danish Headache Center Dept. Neurology Glostrup Denmark (GRID:grid.475435.4) University of Copenhagen Novo Nordisk Foundation Center for Protein Research Faculty of Health and Medical Sciences Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001 0674 042X) University of Copenhagen Department of Clinical Medicine Faculty of Health and Medical Sciences Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001 0674 042X) Copenhagen University Hospital Institute of Biological Psychiatry Mental Health Services Copenhagen Denmark (GRID:grid.4973.9) (ISNI:0000 0004 0646 7373) University of Copenhagen Lundbeck Foundation for GeoGenetics GLOBE Institute Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001 0674 042X) University of Copenhagen Novo Nordisk Foundation Center for Protein Research Faculty of Health and Medical Sciences Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001 0674 042X) University of Copenhagen Department of Clinical Medicine Faculty of Health and Medical Sciences Copenhagen Denmark (GRID:grid.5254.6) (ISNI:0000 0001

Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report a genome-wide association study of back pain using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) and intervertebral disc disorder (IDD) (58,854 cases, 922,958 controls). We identify 41 variants at 33 loci. The most significant association (ORIDD = 0.92, P = 1.6 × 10−39; ORdorsalgia = 0.92, P = 7.2 × 10−15) is with a 3’UTR variant (rs1871452-T) in CHST3, encoding a sulfotransferase enzyme expressed in intervertebral discs. The largest effects on IDD are conferred by rare (MAF = 0.07 − 0.32%) loss-of-function (LoF) variants in SLC13A1, encoding a sodium-sulfate co-transporter (LoF burden OR = 1.44, P = 3.1 × 10−11); variants that also associate with reduced serum sulfate. Genes implicated by this study are involved in cartilage and bone biology, as well as neurological and inflammatory *** is known about the biology of back pain, a leading cause of disability. Here the authors report 30 new back pain loci, implicating genes involved in cartilage/bone biology, as well as neurological and inflammatory processes.

关键词： Bone Genome-wide association studies Pain

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Thalamo-cortical structural co-variation networks are related to familial risk for schizophrenia in the context of lower nuclei volume estimates in patients: an ENIGMA study

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Biological psychiatry 2025年

作者： Annalisa Lella Linda A Antonucci Roberta Passiatore Loredana Bellantuono Pierluigi Selvaggi Teresa Popolizio Guido Di Sciascio Alessandro Saponaro Patrizia Ricci Mario Altamura Giuseppe Blasi Antonio Rampino Chris Vriend Vince D Calhoun Kelly Rootes-Murdy Aaron L Goldman Inmaculada Baeza Josefina Castro-Fornieles Gisela Sugranyes Elena De la Serna Edith Pomarol-Clotet Mar Fatjó-Vilas Raymond Salvador Andriana Karuk Paola Fuentes-Claramonte David C Glahn Amanda L Rodrigue John Blangero Lei Wang Taeyoung Lee Karolin E Einenkel Saskia Hamers Oliver Gruber Adrian Preda Young-Chul Chung Soyolsaikhan Odkhuu Corentin Vallée Paola Dazzan Machteld Marcelis Stijn Michielse Katharina Brosch Frederike Stein Igor Nenadić Benjamin Straube Florian Thomas-Odenthal Tilo Kircher Sean Carruthers Susan L Rossell Phillip J Sumner Tamsyn E Van Rheenen Caroline Demro Ian S Ramsay Scott R Sponheim Rebekka Lencer Susanne Meinert Tim Hahn Udo Dannlowski Dominik Grotegerd Mariateresa Ciccarelli Felice Iasevoli Giuseppe Pontillo Godfrey D Pearlson Derin Cobia Fabrizio Piras Nerisa Banaj Daniela Vecchio Marjolein E A Barendse Neeltje E M van Haren Hang Joon Jo Kang Sim Yann Quidé Melissa J Green Rachael Slate Giacomo Cecere Wolfgang Omlor Stephanie Homan Philipp Homan Sophia I Thomopoulos Jessica A Turner Theo G M van Erp Paul M Thompson Alessandro Bertolino Giulio Pergola Department of Translational Biomedicine and Neuroscience (DiBraiN)-University of Bari Aldo Moro Bari Italy. Department of Translational Biomedicine and Neuroscience (DiBraiN)-University of Bari Aldo Moro Bari Italy Lieber Institute for Brain Development Johns Hopkins Medical Campus Baltimore MD USA. Istituto Nazionale di Fisica Nucleare Bari Italy. Azienda Ospedaliero-Universitaria Consorziale Policlinico Bari Italy. Neuroradiology Unit Scientific Institute for Research Hospitalization and Health Care Casa Sollievo della Sofferenza 71013 San Giovanni Rotondo Foggia Italy. Department of Mental Health ASL Bari Bari Italy. Department of Mental Health ASL Brindisi Brindisi Italy. Department of Mental Health ASL Barletta Andria Trani BAT Italy. Department of Clinical and Experimental Medicine University of Foggia Italy. Amsterdam UMC Vrije Universiteit Amsterdam Department of Psychiatry and Department of Anatomy and Neuroscience de Boelelaan 1117 Amsterdam the Netherlands Compulsivity Impulsivity and Attention Amsterdam Neuroscience de Boelelaan 1117 Amsterdam the Netherlands. Tri-Institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS) Georgia Institute of Technology Georgia State University Emory University Atlanta GA USA. Department of Child and Adolescent Psychiatry and Psychology 2021 SGR 01319 Institute of Neuroscience Hospital Clínic Barcelona Barcelona University of Barcelona Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) CIBERSAM Spain. FIDMAG Germanes Hospitalàries Research Foundation CIBERSAM ISCIII Barcelona Spain. Department of Psychiatry and Behavioral Sciences Boston Children's Hospital Boston MA USA Department of Psychiatry Harvard Medical School Boston MA USA Olin Neuropsychiatry Research Center Institute of Living Hartford CT USA. Department of Psychiatry Harvard Medical School Boston MA USA. Department of Human Genetics and South Texas Diabetes and Obesity Institute School of

BACKGROUND:Structural brain differences in the thalamus and the cortex have been widely reported in schizophrenia (SCZ) relative to neurotypical controls (NC). Most prior studies examined the thalamus as a whole, single region-of-interest. Additionally, findings in individuals at familial high-risk for schizophrenia (FHR) remain inconclusive. Here, we investigated whether local and network-wide thalamic-related structural alterations vary as a function of familial risk for schizophrenia. METHODS:Structural MRI scans were obtained from 5,197 participants (3,409 NC, 257 FHR, 1,531 SCZ) across 32 cross-sectional samples within the ENIGMA Consortium. Random-effects meta-analyses, and network analyses were conducted on (i) local thalamic alterations (volume estimates of seven thalamic subdivisions), and (ii) network-wide thalamic alterations (thickness and surface-related thalamo-cortical/cortico-cortical co-variation patterns) across groups (NC, FHR, SCZ). RESULTS:Individuals with SCZ showed significantly lower gray matter volume estimates in the anterior, pulvinar, medial, posterior, and ventral thalamic subdivisions compared to NC (q<0.05). FHR did not differ from NC. At the network-wide level, thalamo-cortical co-variations discriminated FHR from NC (q<0.05), with FHR showing intermediate co-variation between SCZ and NC. Cortico-cortical co-variation patterns revealed that SCZ and FHR shared similarly disconnected clustering configurations, distinct from NC (q<0.05). CONCLUSIONS:Results revealed lower thalamic volume estimates in SCZ but not in FHR, hence yielding no evidence of a familial risk trait, whereas thalamo-cortical and cortico-cortical co-variation estimates were associated with familial risk for SCZ These findings suggest that, once the thalamus is parsed into subdivisions, network-wide thalamo-cortical features may identify trait-dependent, neurobiological correlates of genetic risk for SCZ.

关键词： Familial high risk for schizophrenia meta-analyses morphometric measures structural neuroimaging thalamic subdivisions thalamo-cortical networks

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Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer (Dec, 10.1038/s41467-019-13824-9, 2022)

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NATURE COMMUNICATIONS 2022年第1期13卷 1-1页

作者： Sieverling, Lina Hong, Chen Koser, Sandra D. Ginsbach, Philip Kleinheinz, Kortine Hutter, Barbara Braun, Delia M. Cortes-Ciriano, Isidro Xi, Ruibin Kabbe, Rolf Park, Peter J. Eils, Roland Schlesner, Matthias Brors, Benedikt Rippe, Karsten Jones, David T. W. Feuerbach, Lars Division of Applied Bioinformatics German Cancer Research Center (DKFZ) 69120 Heidelberg Germany Faculty of Biosciences Heidelberg University 69120 Heidelberg Germany Division of Applied Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany Faculty of Biosciences Heidelberg University Heidelberg Germany Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) 69120 Heidelberg Germany Department for Bioinformatics and Functional Genomics Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant 69120 Heidelberg Germany Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany Institute of Pharmacy and Molecular Biotechnology and BioQuant Heidelberg University Heidelberg Germany German Cancer Consortium (DKTK) Heidelberg Germany National Center for Tumor Diseases (NCT) Heidelberg Heidelberg Germany Heidelberg Center for Personalized Oncology (DKFZ-HIPO) German Cancer Research Center (DKFZ) Heidelberg Germany German Cancer Consortium (DKTK) German Cancer Research Center (DKFZ) Heidelberg Germany Division of Chromatin Networks German Cancer Research Center (DKFZ) and BioQuant 69120 Heidelberg Germany Department of Biomedical Informatics Harvard Medical School Boston Massachusetts 02115 USA Department of Chemistry Centre for Molecular Science Informatics University of Cambridge Cambridge CB2 1EW UK Ludwig Center at Harvard Medical School Boston Massachusetts 02115 USA Department of Biomedical Informatics Harvard Medical School Boston MA USA Department of Chemistry Centre for Molecular Science Informatics University of Cambridge Cambridge UK Ludwig Center at Harvard Medical School Boston MA USA School of Mathematical Sciences and Center for Statistical Science Peking University Beijing 100871 China Heidelberg University Heidelberg Germany New BIH Digital Health Center Berlin Institute of Health (BIH) and Charité - Universitätsmedizin Berlin Berlin Germany Bioi

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Correction: Obesity and brain structure in schizophrenia - ENIGMA study in 3021 individuals

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Molecular psychiatry 2024年第1期29卷 56页

作者： Sean R McWhinney Katharina Brosch Vince D Calhoun Benedicto Crespo-Facorro Nicolas A Crossley Udo Dannlowski Erin Dickie Lorielle M F Dietze Gary Donohoe Stefan Du Plessis Stefan Ehrlich Robin Emsley Petra Furstova David C Glahn Alfonso Gonzalez-Valderrama Dominik Grotegerd Laurena Holleran Tilo T J Kircher Pavel Knytl Marian Kolenic Rebekka Lencer Igor Nenadić Nils Opel Julia-Katharina Pfarr Amanda L Rodrigue Kelly Rootes-Murdy Alex J Ross Kang Sim Antonín Škoch Filip Spaniel Frederike Stein Patrik Švancer Diana Tordesillas-Gutiérrez Juan Undurraga Javier Vázquez-Bourgon Aristotle Voineskos Esther Walton Thomas W Weickert Cynthia Shannon Weickert Paul M Thompson Theo G M van Erp Jessica A Turner Tomas Hajek Department of Psychiatry Dalhousie University Halifax NS Canada. Department of Psychiatry and Psychotherapy Philipps-University Marburg Marburg Germany. Tri-institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS) Georgia State Georgia Tech Emory University Atlanta GA USA. Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM) Madrid Spain. IBiS University Hospital Virgen del Rocio Sevilla Spain. Department of Psychiatry School of Medicine University of Sevilla Sevilla Spain. Department of Psychiatry School of Medicina Pontificia Universidad Católica de Chile Santiago Chile. Department of Psychosis Studies King's College London London UK. Institute for Translational Psychiatry University of Münster Münster Germany. Centre for Addiction & Mental Health Department of Psychiatry University of Toronto Toronto ON Canada. Centre for Neuroimaging & Cognitive Genomics (NICOG) Clinical Neuroimaging Laboratory NCBES Galway Neuroscience Centre College of Medicine Nursing and Health Sciences National University of Ireland Galway Galway Ireland. Department of Psychiatry Faculty of Medicine and Health Sciences Stellenbosch University Cape Town South Africa. SAMRC Genomics of Brain Disorders Unit Cape Town South Africa. Translational Developmental Neuroscience Section Division of Psychological and Social Medicine and Developmental Neurosciences Faculty of Medicine TU Dresden Dresden Germany. National Institute of Mental Health Klecany Czech Republic. Department of Psychiatry & Behavioral Sciences Boston Children's Hospital Boston MA USA. Department of Psychiatry Harvard Medical School Boston MA USA. Olin Neuropsychiatry Research Center Institute of Living Hartford CT USA. School of Medicine Universidad Finis Terrae Santiago Chile. Early Intervention in Psychosis Program Instituto Psiquiátrico 'Dr. José Horwitz B.' Santiago Chile. Charles University Third Faculty of Medicine Prague Czech Republic. Department

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Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology

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Biological psychiatry. Cognitive neuroscience and neuroimaging 2025年

作者： Ana I Silva Ida E Sønderby George Kirov Abdel Abdellaoui Ingrid Agartz David Ames Nicola J Armstrong Eric Artiges Tobias Banaschewski Anne S Bassett Carrie E Bearden John Blangero Rune Boen Dorret I Boomsma Robin Bülow Nancy J Butcher Vince Calhoun Linda E Campbell Eva W C Chow Simone Ciufolini Michael C Craig Benedicto Crespo-Farroco Adam C Cunningham Shareefa Dalvie Eileen Daly Paola Dazzan Eco J C de Geus Greig I de Zubicaray Joanne L Doherty Gary Donohoe Mark Drakesmith Thomas Espeseth Vincent Frouin Hugh Garavan David C Glahn Naomi J Goodrich-Hunsaker Penny A Gowland Hans J Grabe Antoine Grigis Maria Gudbrandsen Boris A Gutman Jan Haavik Asta K Håberg Jeremy Hall Andreas Heinz Sarah Hohmann Jouke-Jan Hottenga Sébastien Jacquemont Neda Jahanshad Rachel K Jonas Derek K Jones Erik G Jönsson Sanne Koops Kuldeep Kumar Stephanie Le Hellard Herve Lemaitre Jingyu Liu Astri J Lundervold Jean-Luc Martinot Karen A Mather Donna M McDonald-McGinn Katie L McMahon Allan F McRae Sarah E Medland Clara A Moreau Kieran C Murphy Declan Murphy Robin M Murray Frauke Nees Michael J Owen Marie-Laure Paillère Martinot Diimitri Papadopoulos Orfanos Tomas Paus Luise Poustka Tiago Reis Marques David R Roalf Perminder S Sachdev Freda Scheffler J Eric Schmitt Gunter Schumann Vidar M Steen Dan J Stein Lachlan T Strike Alexander Teumer Anbupalam Thalamuthu Sophia I Thomopoulos Diana Tordesillas-Gutiérrez Julian N Trollor Anne Uhlmann Ariana Vajdi Dennis van 't Ent Therese van Amelsvoort Marianne B M van den Bree Dennis van der Meer Javier Vázquez-Bourgon Julio E Villalón-Reina Uwe Völker Henry Völzke Jacob A S Vorstman Lars T Westlye Nigel Williams Katharina Wittfeld Margaret J Wright Paul M Thompson Ole A Andreassen David E J Linden School for Mental Health and Neuroscience Department of Psychiatry and Neuropsychology Faculty of Health Medicine and Life Sciences Maastricht University Maastricht The Netherlands Neuroscience and Mental Health Innovation Institute Cardiff University Cardiff United Kingdom Center for Magnetic Resonance Research Department of Radiology University of Minnesota Minneapolis MN USA. Electronic address: silvaai@um.edu. Centre for Precision Psychiatry Institute of Clinical Medicine University of Oslo Oslo Norway Department of Medical Genetics Oslo University Hospital Oslo Norway KG Jebsen Centre for Neurodevelopmental Disorders University of Oslo Oslo Norway. Division of Psychological Medicine and Clinical Neurosciences Cardiff University Cardiff United Kingdom Centre for Neuropsychiatric Genetics and Genomics School of Medicine Cardiff University Cardiff United Kingdom. Department of Psychiatry Amsterdam UMC University of Amsterdam Amsterdam the Netherlands. Norwegian Centre for Mental Disorders Research (NORMENT) Institute of Clinical Medicine University of Oslo Oslo Norway Centre for Psychiatry Research Department of Clinical Neuroscience Karolinska Institutet & Stockholm Health Care Services Stockholm Region Stockholm Sweden Department of Psychiatric Research Diakonhjemmet Hospital Oslo Norway. University of Melbourne Academic Unit for Psychiatry of Old Age Kew Victoria Australia. Mathematics and Statistics Curtin University Perth WA Australia. Institut National de la Santé et de la Recherche Médicale INSERM U1299 "Trajectoires développementales et psychiatrie" Université Paris-Saclay Ecole Normale supérieure Paris-Saclay CNRS Centre Borelli Gif-sur-Yvette France Psychiatry Department EPS Barthélémy Durand Etampes Île-de-France France. Department of Child and Adolescent Psychiatry and Psychotherapy Central Institute of Mental Health Medical Faculty Mannheim University of Heidelberg Mannheim Germany. Clinical Genetics Research Program Centre for

BACKGROUND:Copy number variants (CNVs) increase risk for neurodevelopmental conditions. The neurobiological mechanisms linking these high-risk genetic variants to clinical phenotypes are largely unknown. An important question is whether brain abnormalities in individuals carrying CNVs are associated with their degree of penetrance. METHODS:We investigated if increased CNV-penetrance for schizophrenia and other developmental disorders was associated with variations in cortical and subcortical morphology. We pooled T1-weighted brain magnetic resonance imaging and genetic data from 22 cohorts from the ENIGMA-CNV consortium. In the main analyses, we included 9,268 individuals (aged 7 to 90 years, 54% females), from which we identified 398 carriers of 36 neurodevelopmental CNVs at 20 distinct loci. A secondary analysis was performed including additional neuroimaging data from the ENIGMA-22q consortium, including 274 carriers of the 22q11.2 deletion and 291 non-carriers. CNV-penetrance was estimated through penetrance scores that were previously generated from large cohorts of patients and controls. These scores represent the probability risk to develop either schizophrenia or other developmental disorders (including developmental delay, autism spectrum disorder and congenital malformations). RESULTS:For both schizophrenia and developmental disorders, increased penetrance scores were associated with lower surface area in the cerebral cortex and lower intracranial volume. For both conditions, associations between CNV-penetrance scores and cortical surface area were strongest in regions of the occipital lobes, specifically in the cuneus and lingual gyrus. CONCLUSIONS:Our findings link global and regional cortical morphometric features with CNV-penetrance, providing new insights into neurobiological mechanisms of genetic risk for schizophrenia and other developmental disorders.

关键词： autism neuroimaging psychiatric disorders schizophrenia structural imaging

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Author Correction: The power of genetic diversity in genome-wide association studies of lipids

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Nature 2023年第7965期618卷 E19-E20页

作者： Sarah E Graham Shoa L Clarke Kuan-Han H Wu Stavroula Kanoni Greg J M Zajac Shweta Ramdas Ida Surakka Ioanna Ntalla Sailaja Vedantam Thomas W Winkler Adam E Locke Eirini Marouli Mi Yeong Hwang Sohee Han Akira Narita Ananyo Choudhury Amy R Bentley Kenneth Ekoru Anurag Verma Bhavi Trivedi Hilary C Martin Karen A Hunt Qin Hui Derek Klarin Xiang Zhu Gudmar Thorleifsson Anna Helgadottir Daniel F Gudbjartsson Hilma Holm Isleifur Olafsson Masato Akiyama Saori Sakaue Chikashi Terao Masahiro Kanai Wei Zhou Ben M Brumpton Humaira Rasheed Sanni E Ruotsalainen Aki S Havulinna Yogasudha Veturi QiPing Feng Elisabeth A Rosenthal Todd Lingren Jennifer Allen Pacheco Sarah A Pendergrass Jeffrey Haessler Franco Giulianini Yuki Bradford Jason E Miller Archie Campbell Kuang Lin Iona Y Millwood George Hindy Asif Rasheed Jessica D Faul Wei Zhao David R Weir Constance Turman Hongyan Huang Mariaelisa Graff Anubha Mahajan Michael R Brown Weihua Zhang Ketian Yu Ellen M Schmidt Anita Pandit Stefan Gustafsson Xianyong Yin Jian'an Luan Jing-Hua Zhao Fumihiko Matsuda Hye-Mi Jang Kyungheon Yoon Carolina Medina-Gomez Achilleas Pitsillides Jouke Jan Hottenga Gonneke Willemsen Andrew R Wood Yingji Ji Zishan Gao Simon Haworth Ruth E Mitchell Jin Fang Chai Mette Aadahl Jie Yao Ani Manichaikul Helen R Warren Julia Ramirez Jette Bork-Jensen Line L Kårhus Anuj Goel Maria Sabater-Lleal Raymond Noordam Carlo Sidore Edoardo Fiorillo Aaron F McDaid Pedro Marques-Vidal Matthias Wielscher Stella Trompet Naveed Sattar Line T Møllehave Betina H Thuesen Matthias Munz Lingyao Zeng Jianfeng Huang Bin Yang Alaitz Poveda Azra Kurbasic Claudia Lamina Lukas Forer Markus Scholz Tessel E Galesloot Jonathan P Bradfield E Warwick Daw Joseph M Zmuda Jonathan S Mitchell Christian Fuchsberger Henry Christensen Jennifer A Brody Mary F Feitosa Mary K Wojczynski Michael Preuss Massimo Mangino Paraskevi Christofidou Niek Verweij Jan W Benjamins Jorgen Engmann Rachel L Kember Roderick C Slieker Ken Sin Lo Nuno R Zilhao Phuong Le Marcus E Kleber Graciela E Delgado Shaofeng Huo Dai Department of Internal Medicine Division of Cardiology University of Michigan Ann Arbor MI USA. VA Palo Alto Health Care System Palo Alto CA USA. Department of Medicine Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA. Department of Computational Medicine and Bioinformatics University of Michigan Ann Arbor MI USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK. Department of Biostatistics and Center for Statistics Genetics University of Michigan Ann Arbor MI USA. Department of Genetics Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Clinical Pharmacology William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK. Endocrinology Boston Children's Hospital Boston MA USA. Medical and Population Genetics Broad Institute Cambridge MA USA. Department of Genetic Epidemiology University of Regensburg Regensburg Germany. McDonnell Genome Institute and Department of Medicine Washington University St Louis MO USA. Department of Precision Medicine Division of Genome Science National Institute of Health Cheongju-si South Korea. Tohoku Medical Megabank Organization Tohoku University Sendai Japan. Sydney Brenner Institute for Molecular Bioscience Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa. Center for Research on Genomics and Global Health National Human Genome Research Institute National Institutes of Health Bethesda MD USA. Blizard Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK. Wellcome Sanger Institute Hinxton UK. Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA. Atlanta VA Health Care System Decatur GA USA. Malcolm Randall VA Medical Center Gainesville FL USA. Division of Vascular Sur

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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (vol 52, pg 1314, 2020)

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NATURE GENETICS 2021年第5期53卷 762-762页

作者： Surendran, Praveen Feofanova, Elena V. Lahrouchi, Najim Ntalla, Ioanna Karthikeyan, Savita Cook, James Chen, Lingyan Mifsud, Borbala Yao, Chen Kraja, Aldi T. Cartwright, James H. Hellwege, Jacklyn N. Giri, Ayush Tragante, Vinicius Thorleifsson, Gudmar Liu, Dajiang J. Prins, Bram P. Stewart, Isobel D. Cabrera, Claudia P. Eales, James M. Akbarov, Artur Auer, Paul L. Bielak, Lawrence F. Bis, Joshua C. Braithwaite, Vickie S. Brody, Jennifer A. Daw, E. Warwick Warren, Helen R. Drenos, Fotios Nielsen, Sune Fallgaard Faul, Jessica D. Fauman, Eric B. Fava, Cristiano Ferreira, Teresa Foley, Christopher N. Franceschini, Nora Gao, He Giannakopoulou, Olga Giulianini, Franco Gudbjartsson, Daniel F. Guo, Xiuqing Harris, Sarah E. Havulinna, Aki S. Helgadottir, Anna Huffman, Jennifer E. Hwang, Shih-Jen Kanoni, Stavroula Kontto, Jukka Larson, Martin G. Li-Gao, Ruifang Lindstrom, Jaana Lotta, Luca A. Lu, Yingchang Luan, Jian'an Mahajan, Anubha Malerba, Giovanni Masca, Nicholas G. D. Mei, Hao Menni, Cristina Mook-Kanamori, Dennis O. Mosen-Ansorena, David Muller-Nurasyid, Martina Pare, Guillaume Paul, Dirk S. Perola, Markus Poveda, Alaitz Rauramaa, Rainer Richard, Melissa Richardson, Tom G. Sepulveda, Nuno Sim, Xueling Smith, Albert V. Smith, Jennifer A. Staley, James R. Stanakova, Alena Sulem, Patrick Theriault, Sebastien Thorsteinsdottir, Unnur Trompet, Stella Varga, Tibor V. Velez Edwards, Digna R. Veronesi, Giovanni Weiss, Stefan Willems, Sara M. Yao, Jie Young, Robin Yu, Bing Zhang, Weihua Zhao, Jing-Hua Zhao, Wei Zhao, Wei Evangelou, Evangelos Aeschbacher, Stefanie Asllanaj, Eralda Blankenberg, Stefan Bonnycastle, Lori L. Bork-Jensen, Jette Brandslund, Ivan Braund, Peter S. Burgess, Stephen Cho, Kelly Christensen, Cramer Connell, John de Mutsert, Renee Dominiczak, Anna F. Dorr, Marcus Eiriksdottir, Gudny Farmaki, Aliki-Eleni Gaziano, J. Michael Grarup, Niels Grove, Megan L. Hallmans, Goran Hansen, Torben Have, Christian T. Heiss, Gerardo Jorgensen, Marit E. Jousilahti, Pekka Kajantie, Eero Kamat, Mihir Karajamaki, AnneMari Kar British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK British Heart Foundation Centre of Research Excellence University of Cambridge Cambridge UK Health Data Research UK Cambridge Wellcome Genome Campus and University of Cambridge Cambridge UK Rutherford Fund Fellow Department of Public Health and Primary Care University of Cambridge Cambridge UK MRC Biostatistics Unit University of Cambridge Cambridge UK National Institute for Health Research Cambridge Biomedical Research Centre University of Cambridge and Cambridge University Hospitals Cambridge UK MRC Integrative Epidemiology Unit (IEU) Population Health Sciences Bristol Medical School University of Bristol Bristol UK Robertson Centre for Biostatistics University of Glasgow Glasgow UK MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge UK Department of Immunology and Inflammation Imperial College London London UK Centre for Non-communicable Disease Research (CNCR) Dhaka Bangladesh National Institute for Health Research (NIHR) Blood and Transplant Research Unit (BTRU) in Donor Health and Genomics at the University of Cambridge Cambridge UK Department of Human Genetics Wellcome Sanger Institute Wellcome Genome Campus Hinxton Cambridge UK Department of Biostatistics and Epidemiology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Center for Non-Communicable Diseases Karachi Pakistan Department of Genetics Novo Nordisk Research Centre Oxford Oxford UK Human Genetics Center Department of Epidemiology Human Genetics and Environmental Sciences School of Public Health University of Texas Health Science Center at Houston Houston TX USA Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Cardiovascular Research Center Center for Genomic Medicine

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