检索结果-内蒙古大学图书馆

Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

Nature immunology 2024年第4期25卷 717页

作者： Ann Y Park Michael Leney-Greene Matthew Lynberg Justin Q Gabrielski Xijin Xu Benjamin Schwarz Lixin Zheng Arasu Balasubramaniyam Hyoungjun Ham Brittany Chao Yu Zhang Helen F Matthews Jing Cui Yikun Yao Satoshi Kubo Jean Michel Chanchu Aaron R Morawski Sarah A Cook Ping Jiang Juan C Ravell Yan H Cheng Alex George Aiman Faruqi Alison M Pagalilauan Jenna R E Bergerson Sundar Ganesan Samuel D Chauvin Jahnavi Aluri Joy Edwards-Hicks Eric Bohrnsen Caroline Tippett Habib Omar Leilei Xu Geoffrey W Butcher John Pascall Elif Karakoc-Aydiner Ayca Kiykim Holden Maecker İlhan Tezcan Saliha Esenboga Raul Jimenez Heredia Deniz Akata Saban Tekin Altan Kara Zarife Kuloglu Emel Unal Tanıl Kendirli Figen Dogu Esra Karabiber T Prescott Atkinson Claude Cochet Odile Filhol Catherine M Bosio Mark M Davis Richard P Lifton Erika L Pearce Oliver Daumke Caner Aytekin Gülseren Evirgen Şahin Aysel Ünlüsoy Aksu Gulbu Uzel V Koneti Rao Sinan Sari Buket Dalgıç Kaan Boztug Deniz Cagdas Sule Haskologlu Aydan Ikinciogullari David Schwefel Silvia Vilarinho Safa Baris Ahmet Ozen Helen C Su Michael J Lenardo Molecular Development of the Immune System Section Laboratory of Immune System Biology National Institute of Allergy and Infectious Diseases National Institutes of Health Bethesda MD USA. Clinical Genomics Program National Institute of Allergy and Infectious Diseases National Institutes of Health Bethesda MD USA. Laboratory of Clinical Immunology and Microbiology National Institute of Allergy and Infectious Diseases National Institutes of Health Bethesda MD USA. Laboratory of Bacteriology National Institute of Allergy and Infectious Diseases National Institutes of Health Hamilton MT USA. Department of Structural Biology Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin Germany. Department of Internal Medicine Hackensack Meridian School of Medicine Nutley NJ USA. Biological Imaging Section National Institute of Allergy and Infectious Diseases National Institutes of Health Bethesda MD USA. Department of Immunometabolism Max Planck Institute of Immunobiology and Epigenetics Freiburg Germany. Section of Digestive Diseases Department of Internal Medicine Yale School of Medicine New Haven CT USA. Department of Pathology Yale School of Medicine New Haven CT USA. Laboratory of Lymphocyte Signaling and Development The Babraham Institute Cambridge United Kingdom. Division of Pediatric Allergy and Immunology Marmara University School of Medicine Pendik Istanbul Turkey. The Isil Berat Barlan Center for Translational Medicine Marmara University Pendik Istanbul Turkey. Institute for Immunity Transplantation and Infection Stanford University School of Medicine Palo Alto CA USA. Department of Pediatrics Division of Pediatric Immunology Hacettepe University Faculty of Medicine Ankara Turkey. St Anna Children's Cancer Research Institute Vienna Austria. Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria. Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria. Dep

来源：评论

学校读者我要写书评

暂无评论

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

引用

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

来源：评论

学校读者我要写书评

暂无评论

Immune activation and benefit from avelumab in EBV-positive gastric cancer

引用

Journal of the National Cancer Institute 2018年第3期110卷 316-320页

作者： Panda, Anshuman Mehnert, Janice M. Hirshfield, Kim M. Riedlinger, Greg Damare, Sherri Saunders, Tracie Kane, Michael Sokol, Levi Stein, Mark N. Poplin, Elizabeth Rodriguez-Rodriguez, Lorna Silk, Ann W. Aisner, Joseph Chan, Nancy Malhotra, Jyoti Frankel, Melissa Kaufman, Howard L. Ali, Siraj Ross, Jeffrey S. White, Eileen P. Bhanot, Gyan Ganesan, Shridar Center for Systems and Computational Biology United States Division of Medical Oncology 195 Little Albany Street New Brunswick 08903 NJ United States Phase i and Developmental Therapeutics Program United States Division of Translational Pathology United States Office of Human Research Services United States Pharmacy United States Division of Gynecologic Oncology United States Division of Surgical Oncology United States Division of Basic Science Rutgers Cancer Institute of New Jersey Rutgers University New Brunswick NJ United States Department of Physics and Astronomy United States Department of Molecular Biology and Biochemistry Rutgers University Piscataway NJ United States Department of Medicine United States Department of Pathology and Laboratory Medicine United States Department of Radiology United States Department of Obstetrics Gynecology and Reproductive Sciences United States Department of Surgery Rutgers Robert Wood Johnson Medical School Rutgers University New Brunswick NJ United States Foundation Medicine Inc. Cambridge MA United States Department of Pathology and Laboratory Medicine Albany Medical Center Albany NY United States

Response to immune checkpoint therapy can be associated with a high mutation burden, but other mechanisms are also likely to be important. We identified a patient with metastatic gastric cancer with meaningful clinical benefit from treatment with the anti-programmed death-ligand 1 (PD-L1) antibody avelumab. This tumor showed no evidence of high mutation burden or mismatch repair defect but was strongly positive for presence of Epstein-Barr virus (EBV) encoded RNA. Analysis of The Cancer Genome Atlas gastric cancer data (25 EBV+, 80 microsatellite-instable [MSI], 310 microsatellite-stable [MSS]) showed that EBV-positive tumors were MSS. Two-sided Wilcoxon rank-sumtests showed that: 1) EBV-positive tumors had low mutation burden (median = 2.07 vs 3.13 in log10 scale, P < 10-12) but stronger evidence of immune infiltration (median ImmuneScore 2212 vs 1295, P < 10-4;log2 fold-change of CD8A = 1.85, P < 10-6) compared with MSI tumors, and 2) EBV-positive tumors had higher expression of immune checkpoint pathway (PD-1, CTLA-4 pathway) genes in RNA-seq data (log2 foldchanges: PD-1 = 1.85, PD-L1 = 1.93, PD-L2 = 1.50, CTLA-4 = 1.31, CD80 = 0.89, CD86 = 1.31, P < 10-4 each), and higher lymphocytic infiltration by histology (median tumor-infiltrating lymphocyte score = 3 vs 2, P < .001) compared with MSS tumors. These data suggest that EBV-positive low-mutation burden gastric cancers are a subset of MSS gastric cancers that may respond to immune checkpoint therapy. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: ***@***.

关键词： antibodies avelumab cancer cd80 antigens cell cycle checkpoint cytotoxic t-lymphocyte antigen 4 gastric cancer genes genome herpesvirus 4 histology human ligands lymphocytes mutation neoplasms programmed cell death 1 ligand 1 rna tumor-infiltrating

来源：评论

学校读者我要写书评

暂无评论

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

引用

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

来源：评论

学校读者我要写书评

暂无评论

Comparison of Naturalistic Treatment Outcomes with the Standard 38-Minute Protocol vs. Shortened (“Dash”) Protocol: A NeuroStar® Registry Database Study

引用

Brain Stimulation 2020年第6期13卷 1859-1859页

作者： West, W. Scott, MD Carpenter, Linda L., MD Aaronson, Scott T., MD Boatman, Sarah Verdoliva, MS Hutton, Todd M., MD Mina, Miriam, BS Pages, Kenneth, MD Sackeim, Harold A., PhD Medical Director Nashville NeuroCare Therapy Consultant Neuronetics Inc Department of Psychiatry and Human Behavior Warren Alpert Medical School at Brown University Chief Mood Disorders Program Butler Hospital Attending Psychiatrist Butler Hospital Attending Psychiatrist Kent County Memorial Hospital Director Butler Hospital TMS Clinic Director Butler Neuromodulation Research Facility Scientific advisor to Neuronetics Inc Nexstim PLC Affect Neuro Inc Neurolief LTD and Janssen Pharmaceuticals Inc Director of Clinical Research Programs Sheppard Pratt Health System Psychiatrist and Psychopharmacologist to The Retreat at Sheppard Pratt Director Transcranial Magnetic Stimulation Services Sheppard Pratt Adjunct Associate Professor Psychiatry University of Maryland School of Medicine Scientific adviser to Neuronetics Inc Genomind Inc LivaNova PLC Janssen Pharmaceuticals Inc and has received research support from Compass Pathways Inc and Neuronetics Inc Principal Biostatistician NAMSA Founder and Medical Director Southern California TMS Center Associate Director of Clinical Applications Neuronetics Inc Medical Director TMS of South Tampa Voluntary Faculty Department of Psychiatry University of South Florida Departments of Psychiatry and Radiology College of Physicians and Surgeons Columbia University Emeritus Chief Department of Biological Psychiatry New York State Psychiatric Institute Founding Editor Brain Stimulation: Basic Translational and Clinical Research in Neuromodulation Scientific adviser to Neuronetics Inc. LivaNova PLC and MECTA Corporation

来源：评论

学校读者我要写书评

暂无评论

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

引用

Nature communications 2025年第1期16卷 4852页

作者： Maria Zanti Denise G O'Mahony Michael T Parsons Leila Dorling Joe Dennis Nicholas J Boddicker Wenan Chen Chunling Hu Marc Naven Kristia Yiangou Thomas U Ahearn Christine B Ambrosone Irene L Andrulis Antonis C Antoniou Paul L Auer Caroline Baynes Clara Bodelon Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Kristen D Brantley Nicola J Camp Archie Campbell Jose E Castelao Melissa H Cessna Jenny Chang-Claude Fei Chen Georgia Chenevix-Trench Don M Conroy Kamila Czene Arcangela De Nicolo Susan M Domchek Thilo Dörk Alison M Dunning A Heather Eliassen D Gareth Evans Peter A Fasching Jonine D Figueroa Henrik Flyger Manuela Gago-Dominguez Montserrat García-Closas Gord Glendon Anna González-Neira Felix Grassmann Andreas Hadjisavvas Christopher A Haiman Ute Hamann Steven N Hart Mikael B A Hartman Weang-Kee Ho James M Hodge Reiner Hoppe Sacha J Howell Anna Jakubowska Elza K Khusnutdinova Yon-Dschun Ko Peter Kraft Vessela N Kristensen James V Lacey Jingmei Li Geok Hoon Lim Sara Lindström Artitaya Lophatananon Craig Luccarini Arto Mannermaa Maria Elena Martinez Dimitrios Mavroudis Roger L Milne Kenneth Muir Katherine L Nathanson Rocio Nuñez-Torres Nadia Obi Janet E Olson Julie R Palmer Mihalis I Panayiotidis Alpa V Patel Paul D P Pharoah Eric C Polley Muhammad U Rashid Kathryn J Ruddy Emmanouil Saloustros Elinor J Sawyer Marjanka K Schmidt Melissa C Southey Veronique Kiak-Mien Tan Soo Hwang Teo Lauren R Teras Diana Torres Amy Trentham-Dietz Thérèse Truong Celine M Vachon Qin Wang Jeffrey N Weitzel Siddhartha Yadav Song Yao Gary R Zirpoli Melissa S Cline Peter Devilee Sean V Tavtigian David E Goldgar Fergus J Couch Douglas F Easton Amanda B Spurdle Kyriaki Michailidou Biostatistics Unit The Cyprus Institute of Neurology & Genetics Nicosia Cyprus. Department of Medical Genetics Oslo University Hospital Oslo Norway. Population Health Program QIMR Berghofer Medical Research Institute Brisbane Queensland Australia. Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Cambridge UK. Department of Quantitative Health Sciences Division of Computational Biology Mayo Clinic Rochester MN USA. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA. Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Department of Health and Human Services Bethesda MD USA. Department of Cancer Prevention and Control Roswell Park Comprehensive Cancer Institute Buffalo NY USA. Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario Canada. Department of Molecular Genetics University of Toronto Toronto Ontario Canada. Division of Biostatistics Data Science Institute and Cancer Center Medical College of Wisconsin Milwaukee WI USA. Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge UK. Department of Population Science American Cancer Society Atlanta GA USA. Radiation Oncology Research Unit Hannover Medical School Hannover Germany. Copenhagen General Population Study Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark. Department of Clinical Biochemistry Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark. Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark. Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA. Department of Internal Medicine and Huntsman Cancer Institute University of Utah Salt Lake City UT USA. Centre for Genomic and Experimental Medicine Institute of Genetics & Cancer The University of Ed

Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS. As an initiative of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Analytical Working Group we analyze germline sequencing data of BRCA1 and BRCA2 from 96,691 female breast cancer cases and 302,116 controls from three studies: the BRIDGES study of the Breast Cancer Association Consortium, the Cancer Risk Estimates Related to Susceptibility consortium, and the UK Biobank. We observe 11,207 BRCA1 and BRCA2 variants, with 6909 being coding, covering 23.4% of BRCA1 and BRCA2 VUS in ClinVar and 19.2% of ClinVar curated (likely) benign or pathogenic variants. Case-control likelihood ratio (ccLR) evidence is highly consistent with ClinVar assertions for (likely) benign or pathogenic variants; exhibiting 99.1% sensitivity and 95.3% specificity for BRCA1 and 93.3% sensitivity and 86.6% specificity for BRCA2. This approach provides case-control evidence for 787 unclassified variants; these include 579 with strong or moderate benign evidence and 10 with strong pathogenic evidence for which ccLR evidence is sufficient to alter clinical classification.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Genetics in Medicine Open

引用

Genetics in Medicine Open 2024年 2卷 101873-101873页

作者： van der Sluijs, P.J. Gösgens, M. Dingemans, A.J.M. Striano, P. Riva, A. Mignot, C. Faudet, A. Vasileiou, G. Walther, M. Schrier Vergano, S.A. Alders, M. Alkuraya, F.S. Alorainy, I. Alsaif, H.S. Anderlid, B. Bache, I. van Beek, I. Blanluet, M. van Bon, B.W. Brunet, T. Brunner, H. Carriero, M.L. Charles, P. Chatron, N. Coccia, E. Dubourg, C. Earl, R.K. Eichler, E.E. Faivre, L. Foulds, N. Graziano, C. Guerrot, A.M. Hashem, M.O. Heide, S. Heron, D. Hickey, S.E. Hopman, S.M.J. Kattentidt-Mouravieva, A. Kerkhof, J. Klein Wassink-Ruiter, J.S. Kurtz-Nelson, E.C. Kušíková, K. Kvarnung, M. Lecoquierre, F. Leszinski, G.S. Loberti, L. Magoulas, P.L. Mari, F. Maystadt, I. Merla, G. Milunsky, J.M. Moortgat, S. Nicolas, G. Leary, M.O.’ Odent, S. Ozmore, J.R. Parbhoo, K. Pfundt, R. Piccione, M. Pinto, A.M. Popp, B. Putoux, A. Rehm, H.L. Reis, A. Renieri, A. Rosenfeld, J.A. Rossi, M. Salzano, E. Saugier-Veber, P. Seri, M. Severi, G. Sonmez, F.M. Strobl-Wildemann, G. Stuurman, K.E. Uctepe, E. Van Esch, H. Vitetta, G. de Vries, B.B.A. Wahl, D. Wang, T. Zacher, P. Heitink, K.R. Ropers, F.G. Steenbeek, D. Rybak, T. Santen, G.W.E. Department of Clinical Genetics Leiden University Medical Center Leiden Netherlands Department of Human Genetics Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen Netherlands Pediatric Neurology and Muscular Diseases Unit IRCCS Istituto Giannina Gaslini Genova Italy Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Service de génétique médicale APHP Pitié-Salpêtrière Paris France Département de Génétique Assistance publique - Hôpitaux de Paris Sorbonne Université Hôpital Pitié-Salpêtrière et Trousseau Paris France Institute of Human Genetics Universitätsklinikum Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg Erlangen 91054 Germany Centre for Rare Diseases Erlangen (ZSEER) Erlangen Germany Children's Hospital of The King's Daughters Norfolk VA United States Department of Pediatrics Eastern Virginia Medical School Norfolk VA United States Section Clinical Genetics Department of Human Genetics Amsterdam University Medical Centers Amsterdam Netherlands Department of Translational Genomics Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia Department of Anatomy and Cell Biology College of Medicine Alfaisal University Riyadh Saudi Arabia Department of Radiology and Diagnostic Imaging King Khalid University Hospital and College of Medicine King Saud University Riyadh Saudi Arabia Centre of Excellence for Biomedicine Joint Centers of Excellence Program King Abdulaziz City for Science and Technology Riyadh Saudi Arabia Clinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark Service de Génétique Oncologique Institut Curie Paris France Department of Human

Purpose: ARID1B is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with ARID1B-related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families. Methods: Data on patients aged 18+ years with ARID1B-related disorder were collected through an online questionnaire completed by clinicians and parents. Results: Eighty-seven adult patients with ARID1B were included. Cognitive functioning ranged from borderline to severe intellectual disability. Patients identified through the genetic workup of their child were either mosaic or had a variant in exon 1. New clinical features identified in this population are loss of skill (16/64, 25%) and recurrent patella luxation (12/45, 32%). Self-sustainability data showed that 88% (45/51) could eat independently, and 16% (7/45) could travel alone by public transport. Facial photo analysis showed that patients’ photographs taken at different ages clustered consistently, separate from matched controls. Conclusion: The ARID1B spectrum is broad, and as patients age, there is a significant shift in the medical aspects requiring attention. To address the changing medical needs with increasing age, we have formulated recommendations to promote timely intervention in an attempt to mitigate disease progression. © 2024 The Authors

关键词： Adult ARID1B Coffin–Siris syndrome Developmental delay Intellectual disability

来源：评论

学校读者我要写书评

暂无评论

Brain perfusion mediates the relationship between miRNA levels and postural control

arXiv

引用

arXiv 2019年

作者： Chen, Yufen Herrold, Amy A. Martinovich, Zoran Blood, Anne J. Vike, Nicole Walter, Alexa E. Harezlak, Jaroslaw Seidenberg, Peter H. Bhomia, Manish Knollmann-Ritschel, Barbara Reilly, James L. Nauman, Eric A. Talavage, Thomas M. Papa, Linda Slobounov, Semyon Breiter, Hans C. Center for Translational Imaging Department of Radiology Feinberg School of Medicine Northwestern University ChicagoIL60611 United States Edward Hines Jr. VA Hospital Research Service HinesIL60141 United States Warren Wright Adolescent Center Department of Psychiatry and Behavioral Sciences Feinberg School of Medicine Northwestern University ChicagoIL60611 United States Mental Health Services and Policy Program Department of Psychiatry and Behavioral Sciences Northwestern University Feinberg School of Medicine ChicagoIL60611 United States Mood and Motor Control Laboratory Departments of Neurology and Psychiatry Massachusetts General Hospital Harvard Medical School BostonMA02129 United States Laboratory of Neuroimaging and Genetics Department of Psychiatry Massachusetts General Hospital Harvard Medical School BostonMA02129 United States Martinos Center for Biomedical Imaging Department of Radiology Massachusetts General Hospital Harvard Medical School BostonMA02129 United States School of Electrical and Computer Engineering Purdue University West LafayetteIN47907 United States Weldon School of Biomedical Engineering Purdue University West LafayetteIN47907 United States Department of Kinesiology Pennsylvania State University University ParkPA16802 United States Department of Epidemiology and Biostatistics Indiana University BloomingtonIN47405 United States Departments of Orthopaedics & Rehabilitation and Family & Community Medicine Penn State College of Medicine HersheyPA17033 Department of Pathology Uniformed Services University of the Health Sciences BethesdaMD United States Department of Basic Medical Sciences Purdue University West LafayetteIN47907 United States Department of Emergency Medicine Orlando Regional Medical Center OrlandoFL United States

Transcriptomics, regional cerebral blood flow (rCBF), and a spatial motor virtual reality task were integrated using mediation analysis in a novel demonstration of "imaging omics". Data collected in NCAA Division I football athletes cleared for play before in-season training showed significant relationships in a) elevated levels of miR-30d and miR-92a to elevated putamen rCBF, (b) elevated putamen rCBF to compromised balance scores, and (c) compromised balance scores to elevated miRNA levels. rCBF acted as a mediator variable (minimum 70% mediation, significant Sobel's test) between abnormal miRNA levels and compromised balance scores. Given the involvement of these miRNAs in inflammation and immune function, and that vascular perfusion is a component of the inflammatory response, these findings support a chronic inflammatory model of repetitive head acceleration events (HAEs). rCBF, a systems biology measure, was necessary for miRNA to affect behavior. These results suggest miRNA as a potential diagnostic biomarker for repetitive HAEs. Copyright © 2019, The Authors. All rights reserved.

关键词： Sports

来源：评论

学校读者我要写书评

暂无评论

Publisher Correction: A meta-analysis of genome-wide association studies identifies multiple longevity genes

引用

Nature communications 2021年第1期12卷 2463页

作者： Joris Deelen Daniel S Evans Dan E Arking Niccolò Tesi Marianne Nygaard Xiaomin Liu Mary K Wojczynski Mary L Biggs Ashley van der Spek Gil Atzmon Erin B Ware Chloé Sarnowski Albert V Smith Ilkka Seppälä Heather J Cordell Janina Dose Najaf Amin Alice M Arnold Kristin L Ayers Nir Barzilai Elizabeth J Becker Marian Beekman Hélène Blanché Kaare Christensen Lene Christiansen Joanna C Collerton Sarah Cubaynes Steven R Cummings Karen Davies Birgit Debrabant Jean-François Deleuze Rachel Duncan Jessica D Faul Claudio Franceschi Pilar Galan Vilmundur Gudnason Tamara B Harris Martijn Huisman Mikko A Hurme Carol Jagger Iris Jansen Marja Jylhä Mika Kähönen David Karasik Sharon L R Kardia Andrew Kingston Thomas B L Kirkwood Lenore J Launer Terho Lehtimäki Wolfgang Lieb Leo-Pekka Lyytikäinen Carmen Martin-Ruiz Junxia Min Almut Nebel Anne B Newman Chao Nie Ellen A Nohr Eric S Orwoll Thomas T Perls Michael A Province Bruce M Psaty Olli T Raitakari Marcel J T Reinders Jean-Marie Robine Jerome I Rotter Paola Sebastiani Jennifer Smith Thorkild I A Sørensen Kent D Taylor André G Uitterlinden Wiesje van der Flier Sven J van der Lee Cornelia M van Duijn Diana van Heemst James W Vaupel David Weir Kenny Ye Yi Zeng Wanlin Zheng Henne Holstege Douglas P Kiel Kathryn L Lunetta P Eline Slagboom Joanne M Murabito Max Planck Institute for Biology of Ageing Cologne Germany. Joris.Deelen@age.mpg.de. Molecular Epidemiology Department of Biomedical Data Sciences Leiden University Medical Center Leiden The Netherlands. Joris.Deelen@age.mpg.de. California Pacific Medical Center Research Institute San Francisco CA USA. DEvans@***. McKusick-Nathans Institute of Genetic Medicine Department of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA. Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. Department of Clinical Genetics Amsterdam UMC Amsterdam The Netherlands. Delft Bioinformatics Lab Delft University of Technology Delft The Netherlands. The Danish Aging Research Center Department of Public Health University of Southern Denmark Odense C Denmark. BGI-Shenzhen Shenzhen China. China National Genebank BGI-Shenzhen Shenzhen China. Division of Statistical Genomics Department of Genetics Washington University School of Medicine Saint Louis MO USA. Department of Biostatistics University of Washington Seattle WA USA. Cardiovascular Health Research Unit Department of Medicine University of Washington Seattle WA USA. Department of Epidemiology Erasmus MC Rotterdam The Netherlands. Department of Biology Faculty of Natural Science University of Haifa Haifa Israel. Departments of Medicine and Genetics Albert Einstein College of Medicine Bronx NY USA. Institute for Social Research Survey Research Center University of Michigan Ann Arbor MI USA. Department of Biostatistics Boston University School of Public Health Boston MA USA. School of Public Health Department of Biostatistics University of Michigan Ann Arbor MI USA. Icelandic Heart Association Kópavogur Iceland. Department of Clinical Chemistry Fimlab Laboratories and Finnish Cardiovascular Research Center-Tampere Faculty of Medicine and Health Technology Tampere University Tampere Finland. I

来源：评论

学校读者我要写书评

暂无评论

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci (vol 50, pg 928, 2018)

引用

NATURE GENETICS 2019年第2期51卷 363-363页

作者： Schumacher, Fredrick R. Al Olama, Ali Amin Berndt, Sonja I. Benlloch, Sara Ahmed, Mahbubl Saunders, Edward J. Dadaev, Tokhir Leongamornlert, Daniel Anokian, Ezequiel Cieza-Borrella, Clara Goh, Chee Brook, Mark N. Sheng, Xin Fachal, Laura Dennis, Joe Tyrer, Jonathan Muir, Kenneth Lophatananon, Artitaya Stevens, Victoria L. Gapstur, Susan M. Carter, Brian D. Tangen, Catherine M. Goodman, Phyllis J. Thompson, Ian M., Jr. Batra, Jyotsna Chambers, Suzanne Moya, Leire Clements, Judith Horvath, Lisa Tilley, Wayne Risbridger, Gail P. Gronberg, Henrik Aly, Markus Nordstrom, Tobias Pharoah, Paul Pashayan, Nora Schleutker, Johanna Tammela, Teuvo L. J. Sipeky, Csilla Auvinen, Anssi Albanes, Demetrius Weinstein, Stephanie Wolk, Alicja Hakansson, Niclas West, Catharine M. L. Dunning, Alison M. Burnet, Neil Mucci, Lorelei A. Giovannucci, Edward Andriole, Gerald L. Cussenot, Olivier Cancel-Tassin, Geraldine Koutros, Stella Freeman, Laura E. Beane Sorensen, Karina Dalsgaard Orntoft, Torben Falck Borre, Michael Maehle, Lovise Grindedal, Eli Marie Neal, David E. Donovan, Jenny L. Hamdy, Freddie C. Martin, Richard M. Travis, Ruth C. Key, Tim J. Hamilton, Robert J. Fleshner, Neil E. Finelli, Antonio Ingles, Sue Ann Stern, Mariana C. Rosenstein, Barry S. Kerns, Sarah L. Ostrer, Harry Lu, Yong-Jie Zhang, Hong-Wei Feng, Ninghan Mao, Xueying Guo, Xin Wang, Guomin Sun, Zan Giles, Graham G. Southey, Melissa C. MacInnis, Robert J. FitzGerald, Liesel M. Kibel, Adam S. Drake, Bettina F. Vega, Ana Gomez-Caamano, Antonio Szulkin, Robert Eklund, Martin Kogevinas, Manolis Llorca, Javier Castano-Vinyals, Gemma Penney, Kathryn L. Stampfer, Meir Park, Jong Y. Sellers, Thomas A. Lin, Hui-Yi Stanford, Janet L. Cybulski, Cezary Wokolorczyk, Dominika Lubinski, Jan Ostrander, Elaine A. Geybels, Milan S. Nordestgaard, Borge G. Nielsen, Sune F. Weischer, Maren Bisbjerg, Rasmus Roder, Martin Andreas Iversen, Peter Brenner, Hermann Cuk, Katarina Holleczek, Bernd Maier, Christiane Luedeke, Manuel Schnoeller, Thomas Kim, Jeri Logothetis, Christopher J. John, E Department of Population and Quantitative Health Sciences Case Western Reserve University Cleveland USA Seidman Cancer Center University Hospitals Cleveland USA Royal Marsden NHS Foundation Trust London UK Department of Public Health and Primary Care Centre for Cancer Genetic Epidemiology University of Cambridge Strangeways Research Laboratory Cambridge UK Department of Clinical Neurosciences University of Cambridge Cambridge UK Division of Cancer Epidemiology and Genetics National Cancer Institute NIH Bethesda USA Institute of Cancer Research London UK Department of Preventive Medicine Keck School of Medicine University of Southern California/Norris Comprehensive Cancer Center Los Angeles USA Fundación Pública Galega de Medicina Xenómica–SERGAS Grupo de Medicina Xenómica CIBERER IDIS Santiago de Compostela Spain Department of Oncology Centre for Cancer Genetic Epidemiology Strangeways Laboratory University of Cambridge Cambridge UK Division of Population Health Health Services Research and Primary Care University of Manchester Manchester UK Warwick Medical School University of Warwick Coventry UK Epidemiology Research Program American Cancer Society Atlanta USA SWOG Statistical Center Fred Hutchinson Cancer Research Center Seattle USA CHRISTUS Santa Rosa Hospital–Medical Center San Antonio USA Institute of Health and Biomedical Innovation and School of Biomedical Sciences Queensland University of Technology Brisbane Australia Australian Prostate Cancer Research Centre–Qld Translational Research Institute Brisbane Australia Menzies Health Institute of Queensland Griffith University Nathan Australia Cancer Council Queensland Fortitude Valley Australia Chris O’Brien Lifehouse (COBLH) Camperdown Australia Garvan Institute of Medical Research Sydney Australia Dame Roma Mitchell Cancer Research Centre University of Adelaide Adelaide Australia Monash Biomedicine Discovery Institute Cancer Program Prostate Cancer Research Program Department of Anatom

In the version of this article initially published, the name of author Manuela Gago-Dominguez was misspelled as Manuela Gago Dominguez. The error has been corrected in the HTML and PDF version of the article.

关键词：

来源：评论

学校读者我要写书评

暂无评论

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案：

请选择收藏分类：

通借通还

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：