122 research outputs found
Intensity-dependent dispersion under conditions of electromagnetically induced transparency in coherently prepared multistate atoms
- Author
- A. Dogariu
- A. Imamoglu
- A. V. Durrant
- A.B. Matsko
- A.D. Greentree
- A.F. Huss
- A.M. Steinberg
- A.V. Turukhin
- Andrew D. Greentree
- C. Liu
- D. M. Segal
- D.F. Phillips
- Derek Richards
- E. Paspalakis
- H. Schmidt
- J. A. Vaccaro
- J. P. Marangos
- J.P. Marangos
- J.P. Marangos
- J.R. Morris
- K.M. Gheri
- L.J. Wang
- L.V. Hau
- M. Yan
- M. Yan
- M. Yan
- M. Yan
- M.M. Kash
- M.S. Zubairy
- O. Kocharovskaya
- S. R. de Echaniz
- S. RebiÄ
- S. RebiÄ
- S. RebiÄ
- S.E. Harris
- S.E. Harris
- S.E. Harris
- S.R. de Echaniz
- V.M. Entin
- Publication venue
- 'American Physical Society (APS)'
- Publication date
- 01/01/2003
- Field of study
Published versio
Medical Therapies for Uterine Fibroids - A Systematic Review and Network Meta-Analysis of Randomised Controlled Trials
- Author
- A Armstrong
- A Daniels
- A Golan
- A Lethaby
- A Lieto
- A Zimmermann
- AJ Audebert
- AJ Friedman
- AJ Friedman
- AJ Friedman
- AJ Friedman
- Andrew Horne
- AR Williams
- AR Williams
- B Kroon
- BJ Borah
- CC Coddington
- D De Aloysio
- D Mavrelos
- D Moher
- DD Baird
- DD Baird
- E Roshdy
- E Verspyck
- E Zullo
- ED Levens
- EE Marsh
- EK Arleo
- EP Morris
- ERC A.D. Cardozo
- F Parazzini
- F Polatti
- F Zullo
- F Zullo
- G Levy
- G Orsini
- G Salanti
- GH Guyatt
- GH Sayed
- GS Carls
- H Song
- HH Bustos Lopez
- Ian S. Fraser
- J Balasch
- J Donnez
- J Donnez
- J Donnez
- J Gerris
- J Higgins
- J van de Ven
- J van de Ven
- J Wilkens
- JB Engel
- Jessica Vaughan
- JH Segars
- JL Esteve
- JL Rutgers
- K Chwalisz
- K Fiscella
- K Puri
- KR Hodges
- Kurinchi S. Gurusamy
- L Deng
- L Fedele
- L Fedele
- L Fedele
- L Muzii
- Lawrence M. J. Best
- LJ Green
- LK Nieman
- M Bagaria
- M De Falco
- M Egger
- M Engman
- M Moshesh
- M Rees
- M Sayyah-Melli
- M Tristan
- MA Lumsden
- ME Fernandez-Mentoli
- ME Parsanezhad
- MG Munro
- MS Melli
- N Biglia
- N Johnson
- N Varun
- O Gregoriou
- O Muneyyirci-Delale
- O Sadan
- P Vercellini
- PG Moorman
- R D'Anna
- R Hudecek
- R Seracchioli
- RC Reinsch
- RL Barbieri
- RW Shaw
- S Campo
- S Constantini
- S Jirecek
- S Jo Varghese
- S Palomba
- S Palomba
- S Palomba
- S Palomba
- S Palomba
- S Palomba
- S Palomba
- S Palomba
- S Palomba
- SE Bulun
- SL Myers
- SS Lim
- T Simsek
- TG Stovall
- TG Stovall
- TG Stovall
- Toby Richards
- WD Schlaff
- YB Baytur
- Publication venue
- Publication date
- 01/01/2016
- Field of study
BACKGROUND: Uterine fibroids are common, often symptomatic and a third of women need repeated time off work. Consequently 25% to 50% of women with fibroids receive surgical treatment, namely myomectomy or hysterectomy. Hysterectomy is the definitive treatment as fibroids are hormone dependent and frequently recurrent. Medical treatment aims to control symptoms in order to replace or delay surgery. This may improve the outcome of surgery and prevent recurrence. PURPOSE: To determine whether any medical treatment can be recommended in the treatment of women with fibroids about to undergo surgery and in those for whom surgery is not planned based on currently available evidence. STUDY SELECTION: Two authors independently identified randomised controlled trials (RCT) of all pharmacological treatments aimed at the treatment of fibroids from a list of references obtained by formal search of MEDLINE, EMBASE, Cochrane library, Science Citation Index, and ClinicalTrials.gov until December 2013. DATA EXTRACTION: Two authors independently extracted data from identified studies. DATA SYNTHESIS: A Bayesian network meta-analysis was performed following the National Institute for Health and Care Excellence-Decision Support Unit guidelines. Odds ratios, rate ratios, or mean differences with 95% credible intervals (CrI) were calculated. RESULTS AND LIMITATIONS: A total of 75 RCT met the inclusion criteria, 47 of which were included in the network meta-analysis. The overall quality of evidence was very low. The network meta-analysis showed differing results for different outcomes. CONCLUSIONS: There is currently insufficient evidence to recommend any medical treatment in the management of fibroids. Certain treatments have future promise however further, well designed RCTs are needed
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
- Author
- Adarmes-GĂłmez A.D
- Aguilar Miquel
- Alvarez Ignacio
- Alvarez Victoria
- Bandres-Ciga Sara
- Barrero Francisco Javier
- Bergareche Yarza JesĂșs Alberto
- Bernal-Bernal Inmaculada
- Billingsley Kimberley
- Blauwendraat Cornelis
- Blazquez Marta
- Bonilla-Toribio Marta
- BotĂa Juan A.
- Boungiorno MarĂa Teresa
- Bras Jose
- Brice Alexis
- Brockmann Kathrin
- Buiza-Rueda Dolores
- Carcel Maria
- Carrillo FĂĄtima
- CarriĂłn-Claro Mario
- Cerdan Debora
- Chelban Viorica
- ClarimĂłn Jordi
- Collado-Torres Leonardo
- Compta Yaroslau
- Cookson Mark R.
- Corvol Jean-Christophe
- CĂĄmara Ana
- D'Sa Karishma
- Danjou Fabrice
- de Munain Arregui Adolfo Lopez
- Diez-Fairen Monica
- Dols Icardo Oriol
- Duarte Jacinto
- Duran Raquel
- Escamilla Sevilla Francisco
- Escott-Price Valentina
- Ezquerra Mario
- Faghri Faraz
- FernĂĄndez Manel
- Fernåndez-Santiago Rubén
- Finkbeiner Steven
- Foltynie Thomas
- Forabosco Paola
- Gagliano Taliun Sarah A.
- Gan-Or Ziv
- Garcia Ciara
- GarcĂa-Ruiz Pedro
- Gasser Thomas
- Gibbs J. Raphael
- Giri Anamika
- Gonzalez-Aramburu Isabel
- Guelfi Sebastian
- Guerreiro Rita
- GĂłmez-Garre Pilar
- Gómez-Heredia Maria José
- Hardy John
- Hernandez Dena G.
- Heutink Peter
- Hoenicka Janet
- Holmans Peter
- Houlden Henry
- Infante Jon
- JesĂșs Silvia
- Jimenez-Escrig Adriano
- Kia Demis A.
- Kinghorn Kerri J.
- Koks Sulev
- Krohan Lynne
- Kulisevsky Jaime
- Labrador-Espinosa Miguel A.
- Leonard Hampton L
- Lesage Suzanne
- Lewis Patrick
- Lopez-Sendon Jose Luis
- Lovering Ruth Caroline
- Lubbe Steven
- Lungu Codrin
- Macias Daniel
- Majamaa Kari
- Marinus Johan
- Marti Maria Jose
- Martinez Torres Irene
- Martinez Maria M.
- MartĂnez Castrillo Juan Carlos
- MarĂn Juan
- Mencacci Niccolo Emanuele
- Mendez-Gonzalez Manuel
- Middlehurst Ben
- Mir Pablo
- Mok Kin Ying
- Mondragon Rezola Elisabet
- Morris Huw
- Muñoz Esteban
- MĂ©ndez-del-Barrio Carlota
- MĂnguez-Castellanos Adolfo
- Nalls Mike A.
- Nicolas Aaude
- Noyce Alastair J.
- Ojo Oluwadamilola
- Okubadejo Njideka
- Pagola Ana Gorostidi
- Pagonabarraga Mora Javier
- Pastor Pau
- Perez Errazquin Francisco
- Periñån Teresa
- Pihlstrom Lasse
- Plun-Favreau Helene
- Quijada Leyton Pedro
- Quinn John
- R'Bibo Lea
- Ramasamy Adaikalavan
- Reed Xylena
- Reynolds Regina H.
- Rizig Mie
- Rizzu Patrizia
- Robak Laurie
- Rouleau Guy A.
- Ruiz-MartĂnez Javier
- Ruz Clara
- Ryten Mina
- Sanchez Rodriguez Antonio
- Scholz Sonja
- Schulte Claudia
- Sharma Manu
- Shulman Joshua M.
- Sierra Maria
- Siitonen Ari
- SimĂłn-SĂĄnchez Javier
- Singleton Andrew B.
- Small Kerrin
- Smith Colin
- Suarez-Sanmartin Esther
- Taba Pille
- Tabernero Cesar
- Tan Manuela
- Tartari Juan Pablo
- Tejera-Parrado Cristina
- Thomason Andrew
- Tolosa Eduard
- Trabzuni Daniah
- Tucci Arianna
- Universitat AutĂČnoma de Barcelona
- Valldeoriola Francesc
- van Hilten Jacobus J.
- Vandrovcova Jana
- Vargas-GonzĂĄlez Laura
- Vela Lydia
- Vives Francisco
- Walker Robert
- Weale Michael
- Williams Nigel
- Wood Nicholas W.
- Zhang David
- Zimprich Alexander
- Publication venue
- Publication date
- 01/01/2020
- Field of study
Genome-wide association studies have generated an increasing number of common genetic variants associated with neurological and psychiatric disease risk. An improved understanding of the genetic control of gene expression in human brain is vital considering this is the likely modus operandum for many causal variants. However, human brain sampling complexities limit the explanatory power of brain-related expression quantitative trait loci (eQTL) and allele-specific expression (ASE) signals. We address this, using paired genomic and transcriptomic data from putamen and substantia nigra from 117 human brains, interrogating regulation at different RNA processing stages and uncovering novel transcripts. We identify disease-relevant regulatory loci, find that splicing eQTLs are enriched for regulatory information of neuron-specific genes, that ASEs provide cell-specific regulatory information with evidence for cellular specificity, and that incomplete annotation of the brain transcriptome limits interpretation of risk loci for neuropsychiatric disease. This resource of regulatory data is accessible through our web server, http://braineacv2.inf.um.es/
Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas
- Author
- Abeshouse Adam
- Adebamowo Clement
- Adebamowo Sally N.
- Akbani Rehan
- Akeredolu Teniola
- Ally Adrian
- Anderson Matthew L.
- Anur Pavana
- Appelbaum Elizabeth L.
- Armenia Joshua
- Auman J. Todd
- Bailey Matthew H.
- Baker Laurence
- Balasundaram Miruna
- Balu Saianand
- Barthel Floris P.
- Bartlett John
- Baylin Stephen B.
- Behera Madhusmita
- Belyaev Dmitry
- Bennett Joesph
- Benz Christopher
- Beroukhim Rameen
- Birrer Michael
- Bocklage ThÚrése
- Bodenheimer Tom
- Boice Lori
- Bootwalla Moiz S.
- Bowen Jay
- Bowlby Reanne
- Boyd Jeff
- Brohl Andrew S.
- Brooks Denise
- Byers Lauren
- Carlsen Rebecca
- Castro Patricia
- Chen Hsiao-Wei
- Cherniack Andrew D.
- Chibon Fréderic
- Chin Lynda
- Cho Juok
- Chuah Eric
- Chudamani Sudha
- Cibulskis Carrie
- Cooper Lee A.D.
- Cope Leslie
- Cordes Matthew G.
- Crain Daniel
- Curley Erin
- Danilova Ludmila
- Dao Fanny
- Davis Ian J.
- Davis Lara E.
- Defreitas Timothy
- Delman Keith
- Demchok John A.
- Demetri George D.
- Demicco Elizabeth G.
- Dhalla Noreen
- Diao Lixia
- Ding Li
- DiSaia Phil
- Dottino Peter
- Doyle Leona A.
- Drill Esther
- Dubina Michael
- Eschbacher Jennifer
- Fedosenko Konstantin
- Felau Ina
- Ferguson Martin L.
- Frazer Scott
- Fronick Catrina C.
- Fulidou Victoria
- Fulton Lucinda A.
- Fulton Robert S.
- Gabriel Stacey B.
- Gao Jianjiong
- Gao Qingsong
- Gardner Johanna
- Gastier-Foster Julie M.
- Gay Carl M.
- Gehlenborg Nils
- Gerken Mark
- Getz Gad
- Godwin Andrew K.
- Godwin Eryn M.
- Gordienko Elena
- Grilley-Olson Juneko E.
- Gutman David A.
- Gutmann David H.
- Hayes D. Neil
- Hegde Apurva M.
- Heiman David I.
- Heins Zachary
- Helsel Carmen
- Hepperla Austin J.
- Higgins Kelly
- Hoadley Katherine A.
- Hobensack Shital
- Holt Robert A.
- Hoon Dave B.
- Hornick Jason L.
- Hoyle Alan P.
- Hu Xin
- Huang Mei
- Hutter Carolyn M.
- Iacocca Mary
- Ingram Davis R.
- Ittmann Michael
- Iype Lisa
- Jefferys Stuart R.
- Jones Corbin D.
- Jones Kevin B.
- Jones Steven J.M.
- Kalir Tamara
- Karlan Beth Y.
- Karseladze Apollon
- Kasaian Katayoon
- Kim Jaegil
- Kundra Ritika
- Kuo Hanluen
- Ladanyi Marc
- Lai Phillip H.
- Laird Peter W.
- Larsson Erik
- Lawrence Michael S.
- Lazar Alexander J.
- Lee Darlene
- Lee Sanghoon
- Lehmann Kjong-Van
- Leraas Kristen M.
- Lester Jenny
- Levine Douglas A.
- Li Irene
- Lichtenberg Tara M.
- Lin Pei
- Liu Eric Minwei
- Liu Jia
- Liu Wenbin
- Lolla Laxmi
- Lu Yiling
- Ma Yussanne
- Madan Rashna
- Maglinte Dennis T.
- Magliocco Anthony
- Maki Robert G.
- Mallery David
- Manikhas Georgy
- Mardis Elaine R.
- Mariamidze Armaz
- Marra Marco A.
- Martignetti John A.
- Martinez Cathleen
- Mayo Michael
- McLellan Michael D.
- Meier Sam
- Meng Shaowu
- Meyerson Matthew
- Mieczkowski Piotr A.
- Miller Christopher A.
- Mills Gordon B.
- Moore Richard A.
- Morris Scott
- Mose Lisle E.
- Mozgovoy Evgeny
- Mungall Andrew J.
- Mungall Karen
- Nalisnik Michael
- Naresh Rashi
- Newton Yulia
- Noble Michael S.
- Novak Janet E.
- Ochoa Angelica
- Olvera Narciso
- Owonikoko Taofeek K.
- Paklina Oxana
- Parfitt Jeremy
- Parker Joel S.
- Pastore Alessandro
- Paulauskis Joseph
- Penny Robert
- Pereira Elena
- Perou Amy H.
- Perou Charles M.
- Pihl Todd
- Pollock Raphael E.
- Potapova Olga
- Radenbaugh Amie J.
- Ramalingam Suresh S.
- Ramirez Nilsa C.
- Rathmell W. Kimryn
- Raut Chandrajit P.
- Reilly Colleen
- Reynolds Sheila M.
- Riedel Richard F.
- Roach Jeffrey
- Robertson A. Gordon
- Roszik Jason
- Rubin Brian P.
- Sadeghi Sara
- Saksena Gordon
- Salner Andrew
- Sanchez-Vega Francisco
- Sander Chris
- Schein Jacqueline E.
- Schmidt Heather K.
- Schultz Nikolaus
- Schumacher Steven E.
- Sekhon Harman
- Senbabaoglu Yasin
- Setdikova Galiya
- Shelton Candace
- Shelton Troy
- Shen Ronglai
- Shi Yan
- Shih Juliann
- Shmulevich Ilya
- Sica Gabriel L.
- Simons Janae V.
- Singer Samuel
- Sipahimalani Payal
- Skelly Tara
- Socci Nicholas
- Sofia Heidi J.
- Soloway Matthew G.
- Spellman Paul
- Sun Qiang
- Swanson Patricia
- Tam Angela
- Tan Donghui
- Tarnuzzer Roy
- Thiessen Nina
- Thompson Eric
- Thorne Leigh B.
- Tong Pan
- Torres Keila E.
- van de Rijn Matt
- Van Den Berg David J.
- Van Tine Brian A.
- Veluvolu Umadevi
- Verhaak Roel
- Voet Doug
- Voronina Olga
- Wan Yunhu
- Wang Jing
- Wang Zhining
- Weinstein John N.
- Weisenberger Daniel J.
- Wilkerson Matthew D.
- Wilson Richard K.
- Wise Lisa
- Wong Tina
- Wong Winghing
- Wrangle John
- Wu Ye
- Wyczalkowski Matthew
- Yang Liming
- Yau Christina
- Yellapantula Venkata
- Zenklusen Jean C.
- Zhang Hailei
- Zhang Hongxin
- Zhang Jiashan (Julia)
- Zmuda Erik
- Publication venue
- Publication date
- 01/01/2017
- Field of study
Sarcomas are a broad family of mesenchymal malignancies exhibiting remarkable histologic diversity. We describe the multi-platform molecular landscape of 206 adult soft tissue sarcomas representing 6 major types. Along with novel insights into the biology of individual sarcoma types, we report three overarching findings: (1) unlike most epithelial malignancies, these sarcomas (excepting synovial sarcoma) are characterized predominantly by copy-number changes, with low mutational loads and only a few genes (, , ) highly recurrently mutated across sarcoma types; (2) within sarcoma types, genomic and regulomic diversity of driver pathways defines molecular subtypes associated with patient outcome; and (3) the immune microenvironment, inferred from DNA methylation and mRNA profiles, associates with outcome and may inform clinical trials of immune checkpoint inhibitors. Overall, this large-scale analysis reveals previously unappreciated sarcoma-type-specific changes in copy number, methylation, RNA, and protein, providing insights into refining sarcoma therapy and relationships to other cancer types
Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure
- Author
- Abecasis G. (Goncalo)
- Almgren P. (Peter)
- Andersson C. (Charlotte)
- Aragam K.G. (Krishna G.)
- Asselbergs F.W. (Folkert)
- Backman J. (Joshua)
- Backman J.D. (Joshua D.)
- Bai X. (Xiaodong)
- Balasubramanian S. (Suganthi)
- Banerjee N. (Nilanjana)
- Baras A. (Aris)
- Barnard L. (Leland)
- Beechert C. (Christina)
- Biggs M.L. (Mary L.)
- Bloom H.L. (Heather L.)
- Blumenfeld A. (Andrew)
- Brandimarto J. (Jeffrey)
- Brown M.R. (Michael R.)
- Buckbinder L. (Leonard)
- Cantor M. (Michael)
- Cappola T.P. (Thomas P.)
- Carey D.J. (David J.)
- Chaffin M.D. (Mark D.)
- Chai Y. (Yating)
- Chasman D.I. (Daniel I.)
- Chen X. (Xing)
- Chen X. (Xu)
- Chung J. (Jonathan)
- Chung J. (Jonathan)
- Chutkow W. (William)
- Cook J.P. (James P.)
- Coppola G. (Giovanni)
- Damask A. (Amy)
- Dehghan A. (Abbas)
- Delgado G.
- Denaxas S. (Spiros)
- Dewey F. (Frederick)
- Doney A.S.F. (Alex)
- Dudley S.C. (Samuel C.)
- Dunn M.E. (Michael E.)
- Dörr M. (Marcus)
- Economides A. (Aris)
- Ellinor P.T. (Patrick)
- Engström G.
- Eom G. (Gisu)
- Esko T. (TÔnu)
- Fatemifar G. (Ghazaleh)
- Felix S.B. (Stephan B.)
- Finan C. (Chris)
- Ford I. (Ian)
- Forsythe C. (Caitlin)
- Fuller E.D. (Erin D.)
- Ghanbari M. (Mohsen)
- Ghasemi S. (Sahar)
- Giedraitis V. (Vilmantas)
- Giulianini F. (Franco)
- Gottdiener J.S. (John)
- Gross S. (Stefan)
- Gu Z. (Zhenhua)
- Gurski L. (Lauren)
- Gutmann R. (Rebecca)
- Guzzardo P.M. (Paloma M.)
- GuĂ°bjartsson D.F. (DanĂel F.)
- Habegger L. (Lukas)
- Haggerty C.M. (Christopher M.)
- Hahn Y. (Young)
- Harst P. (Pim) van der
- Hawes A. (Alicia)
- Hedman A.K. (Asa)
- Helgadottir H.T. (Hafdis)
- Hemingway H.
- Henry A. (Albert)
- Hingorani A. (Aroon)
- Holm H. (Hilma)
- Holmes M.V. (Michael)
- Hyde C.L. (Craig L.)
- Ingelsson E. (Erik)
- Jones M.B. (Marcus B.)
- Jukema J.W. (Jan Wouter)
- Kao W.H.L. (Wen)
- Kavousi M. (Maryam)
- Khalid S. (Shareef)
- Khaw K.-T. (Kay-Tee)
- Kleber M.E. (Marcus)
- Koekemoer A. (Andrea)
- Kuchenbaecker K.B. (Karoline)
- KĂžber L. (Lars)
- Lang C.C. (Chim C.)
- Langenberg C. (Claudia)
- Lattari M. (Michael)
- Li A. (Alexander)
- Lin H. (Honghuang)
- Lin N. (Nan)
- Lindgren C.M. (Cecilia M.)
- Liu D. (Daren)
- London B. (Barry)
- Lopez A. (Alexander)
- Lotta L.A. (Luca A.)
- Lovering R.C. (Ruth C.)
- Luan J.
- Lubitz S.A. (Steven)
- Lumbers R.T. (R. Thomas)
- Magnusson P.K. (Patrik)
- Mahajan A. (Anubha)
- Manoochehri K. (Kia)
- Marchini J. (Jonathan)
- Marcketta A. (Anthony)
- Margulies K.B. (Kenneth B.)
- Maxwell E.K. (Evan K.)
- McCarthy S. (Shane)
- McMurray J.J.V. (John J. V.)
- Melander O. (Olle)
- Mitnaul L.J. (Lyndon)
- Mordi I.R. (Ify R.)
- Morgan T. (Thomas)
- Morley M.P. (Michael P.)
- Morris A.D. (Andrew D.)
- Morris A.P. (Andrew)
- Morrison A.C. (Alanna C.)
- MĂ€larstig A. (Anders)
- Nagle M.W. (Michael W.)
- Nelson C.P. (Christopher P.)
- Newton-Cheh C. (Christopher)
- Niessner A. (Alexander)
- Niiranen T. (Teemu)
- Overton J.D. (John D.)
- Owens A.T. (Anjali T.)
- OâDonoghue M.L. (Michelle L.)
- OâDushlaine C. (Colm)
- Padilla M.S. (Maria Sotiropoulos)
- Palmer C.N.A. (Colin N. A.)
- Parry H.M. (Helen M.)
- Paulding C. (Charles)
- Penn J. (John)
- Perola M. (Markus)
- Portilla-Fernandez E. (Eliana)
- Pradhan M. (Manasi)
- Psaty B.M. (Bruce M.)
- Reid J.G. (Jeffrey G.)
- Rice K.M. (Kenneth)
- Ridker P.M. (Paul M.)
- Romaine S.P.R. (Simon P. R.)
- Roselli C. (Carolina)
- Rotter J.I. (Jerome I.)
- Salo P. (Perttu)
- Salomaa V. (Veikko)
- Samani N.J. (Nilesh J.)
- Sattar N. (Naveed)
- Schleicher T.D. (Thomas D.)
- Schurmann C. (Claudia)
- Setten J. (Jessica) van
- Shah S. (Sonia)
- Shalaby A.A. (Alaa A.)
- Shuldiner A. (Alan)
- Smelser D.T. (Diane T.)
- Smith J.G. (J Gustav)
- Smith N.L. (Nicholas L.)
- Staples J.C. (Jeffrey C.)
- Stefansson K. (Kari)
- Stender S. (Steen)
- Stott D.J. (David. J.)
- Sun D. (Dylan)
- Sveinbjörnsson G. (Garðar)
- Svensson P. (Per)
- Swerdlow D.I. (Daniel)
- Tammesoo M.L.
- Taylor K.D. (Kent D.)
- Teder-Laving M. (Maris)
- Teumer A. (Alexander)
- Thorgeirsson G. (GuĂ°mundur)
- Thorsteinsdottir U. (Unnur)
- Toledo K. (Karina)
- Torp-Pedersen C. (Christian Tobias)
- Trompet S. (Stella)
- Tyl B. (Benoit)
- Uitterlinden A.G. (Andre G.)
- Ulloa R.H. (Ricardo H.)
- van Hout C. (Cristopher)
- Vasan R.S. (Ramachandran Srini)
- Veluchamy A. (Abirami)
- Verweij N. (Niek)
- Visscher P.M. (Peter M.)
- Voors A.A. (Adriaan A.)
- Völker U. (Uwe)
- Wang X. (Xiaosong)
- Wareham N.J. (Nick)
- Waterworth D. (Dawn)
- Weeke P.E. (Peter E.)
- Weiss R. (Ram)
- Widom L. (Louis)
- Wiggins K.L. (Kerri L.)
- Wilk J.B. (Jemma)
- Wolf S.E. (Sarah E.)
- Xing H. (Heming)
- Yadav A. (Ashish)
- Yang J. (Jian)
- Ye B. (Bin)
- Ye S. (Shu)
- Yerges-Armstrong L.M. (Laura)
- Yu B. (Bing)
- Zannad F. (Faiez)
- Zhao J.H. (Jing Hua)
- Ărnlöv J. (Johan)
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 09/01/2020
- Field of study
Heart failure (HF) is a leading cause of morbidity and mortality worldwide. A small proportion of HF cases are attributable to monogenic cardiomyopathies and existing genome-wide association studies (GWAS) have yielded only limited insights, leaving the observed heritability of HF largely unexplained. We report results from a GWAS meta-analysis of HF comprising 47,309 cases and 930,014 controls. Twelve independent variants at 11 genomic loci are associated with HF, all of which demonstrate one or more associations with coronary artery disease (CAD), atrial fibrillation, or reduced left ventricular function, suggesting shared genetic aetiology. Functional analysis of non-CAD-associated loci implicate genes involved in cardiac development (MYOZ1, SYNPO2L), protein homoeostasis (BAG3), and cellular senescence (CDKN1A). Mendelian randomisation analysis supports causal roles for several HF risk factors, and demonstrates CAD-independent effects for atrial fibrillation, body mass index, and hypertension. These findings extend our knowledge of the pathways underlying HF and may inform new therapeutic strategies
Age at first birth in women is genetically associated with increased risk of schizophrenia
- Author
- Adolfsson R.
- Agartz I. (Ingrid)
- Agerbo E. (Esben)
- Albus M. (Margot)
- Alexander M. (Madeline)
- Amin F. (Farooq)
- Andreassen O.A. (Ole)
- Bacanu S.A. (Silviu)
- Begemann M. (Martin)
- Belliveau R.A. (Richard A.)
- Bene J. (Judit)
- Bergen S.E. (Sarah)
- Bevilacqua E. (Elizabeth)
- Bigdeli T.B. (Tim B.)
- Black D.W. (Donald)
- Blackwood D.H.R. (Douglas)
- Borglum A.D. (Anders)
- Bramon E. (Elvira)
- Bruggeman R. (Richard)
- Buccola N.G. (Nancy G)
- Buckner M.
- Bulik-Sullivan B.K. (Brendan)
- Buxbaum J.D. (Joseph D.)
- Byerley W.F. (William F)
- Cahn W. (Wiepke)
- Cai G. (Guiqing)
- Campion D. (Dominique)
- Cantor R.M.
- Carr V.J. (Vaughan J.)
- Carrera N. (Noa)
- Catts S.V. (Stanley)
- Chambert K. (Kimberly)
- Chan R.C.K. (Raymond C. K.)
- Chen E.Y.H. (Eric Y. H.)
- Chen R.Y.L. (Ronald Y.)
- Cheng W. (Wei)
- Cheung E.F.C. (Eric F. C.)
- Chong S.A. (Siow Ann)
- Cichon S. (Sven)
- Clair D.S.
- Cloninger C.R. (C Robert)
- Cohen D.J. (David J.)
- Cohen N. (Nadine)
- Collier D.A. (David)
- Cormican P. (Paul)
- Corvin A. (Aiden)
- Craddock N.J. (Nick)
- Crowley J.J. (James)
- Curtis D. (David)
- Daly M.J. (Mark J.)
- Darvasi A. (Ariel)
- Davidson M.W. (Michael )
- Davis K.L. (Kenneth)
- Degenhardt F.
- Del-Favero J. (Jurgen)
- Demontis D. (Ditte)
- Dikeos D. (Dimitris)
- Dinan T. (Timothy)
- Djurovic S. (Srdjan)
- Domenici E. (Enrico)
- Donohoe D.J. (Dennis)
- Drapeau E. (Elodie)
- Duan J. (Jubao)
- Dudbridge F. (Frank)
- Durmishi N. (Naser)
- Ehrenreich H. (Hannelore)
- Eichhammer P. (Peter)
- Escott-Price V. (Valentina)
- Esko T. (TÔnu)
- Essioux L. (Laurent)
- Fanous A.H. (Ayman H.)
- Farh K.-H. (Kai-How)
- Farrell M.S. (Martilias)
- Frank J. (Josef)
- Franke L. (Lude)
- Freedman R. (Robert)
- Freimer N.B. (Nelson)
- Friedl M.
- Friedman J.I. (Joseph)
- Fromer M. (Menachem)
- Gejman P.V. (Pablo)
- Genovese G. (Giulio)
- Georgieva I. (Irina)
- Giegling I. (Ina)
- Gill M. (Michael)
- Giusti-RodrĂguez P. (Paola)
- Godard S. (Stephanie)
- Goldstein J.I. (Jacqueline)
- Golimbet V. (Vera)
- Gopal R. (Robin)
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- Gurling H. (Hugh)
- Haan L. (Lieuwe) de
- Hagen K. (Knut)
- Hammer C. (Christian)
- Hamshere M.L. (Marian)
- Hansen M. (Mark)
- Hansen T. (Thomas)
- Haroutunian V. (Vahram)
- Hartmann A.M. (Annette M.)
- Henskens F.A. (Frans)
- Herms S. (Stefan)
- Hirschhorn J.N. (Joel)
- Hoffmann P. (Per)
- Hofman A. (Andrea)
- Hollegaard M.V. (Mads V)
- Holmans P.A. (Peter A.)
- Hougaard D.M. (David)
- Huang H. (Hailiang)
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- Ikeda M. (Masashi)
- Iwata N. (Nakao)
- Jablensky A. (Assen)
- Joa I. (Inge)
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- Kucinskiene Z.A. (Zita Ausrele)
- Kuzelova-Ptackova H. (Hana)
- KuÄinskas V. (Vaidutis)
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- Laurent C. (Camille)
- Lee P.H. (Phil H.)
- Lee S.H. (Sang Hong)
- Legge S.E. (Sophie)
- Lencz T. (Todd)
- Lerer B. (Bernard)
- Levinson D.F. (Douglas F.)
- Li M. (Miaoxin)
- Li Q.S. (Qingqin S.)
- Li T. (Tao)
- Liang K.-Y. (Kung-Yee)
- Lieberman A.P. (Andrew)
- Limborska S. (Svetlana)
- Liu J. (Jianjun)
- Loughland C.M. (Carmel)
- Lubinski J. (Jan)
- Lönnqvist J. (Jouko)
- Macek M. (Milan MI)
- Magnusson P.K. (Patrik)
- Maher B.S. (Brion)
- Maier W. (Wolfgang)
- Malhotra A.K. (Anil K)
- Mallet V. (Vincent)
- Marsal S. (Sara)
- Mattheisen M. (Manuel)
- Mattingsdal M. (Morten)
- McCarley R.W. (Robert)
- McCarroll S.A. (Steve)
- McDonald C. (Colm)
- McIntosh A.M. (Andrew)
- McQuillin A. (Andrew)
- Meier S.
- Meijer C. (Carin)
- Melegh B. (Bela)
- Melle I. (Ingrid)
- Mesholam-Gately R.I. (Raquelle)
- Metspalu A. (Andres)
- Michie P.T. (Patricia)
- Milani L. (Lili)
- Milanova V. (Vihra)
- Mokrab Y. (Younes)
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- Myin-Germeys I. (Inez)
- MĂŒller-Myhsok B. (B.)
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- Nelis M. (Mari)
- Nenadic I. (Igor)
- Nertney D.A. (Deborah)
- Nestadt G. (Gerald)
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- Nicodemus K.K. (Kristin)
- Nikitina-Zake L. (Liene)
- Nisenbaum L. (Laura)
- Nordin A. (Annelie)
- Nöthen M.M. (Markus)
- O'Callaghan E. (Eadbhard)
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- O'neill F.A. (F. Anthony)
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- Visscher P.M. (Peter)
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- Wang Q. (Qiang)
- Webb B.T. (Bradley T.)
- Weinberger D.R. (Daniel)
- Weiser M. (Mark)
- Wendland A. (Annika)
- Werge T.M. (Thomas)
- Wildenauer D.B. (Dieter)
- Williams N.M. (Nigel M.)
- Williams S. (Stephanie)
- Witt S.H. (Stephanie H)
- Wolen A.R. (Aaron)
- Wong E.H.M. (Emily H.M.)
- Wormley B.K. (Brandon K.)
- Wray N.R. (Naomi R.)
- Xi H.S. (Hualin Simon)
- Zai C.C. (Clement C.)
- Zheng X. (Xuebin)
- Zimprich F. (Fritz)
- Zwart J-A. (John-Anker)
- Publication venue
- Publication date
- 01/01/2018
- Field of study
Prof. Paunio on PGC:n jÀsenPrevious studies have shown an increased risk for mental health problems in children born to both younger and older parents compared to children of average-aged parents. We previously used a novel design to reveal a latent mechanism of genetic association between schizophrenia and age at first birth in women (AFB). Here, we use independent data from the UK Biobank (N = 38,892) to replicate the finding of an association between predicted genetic risk of schizophrenia and AFB in women, and to estimate the genetic correlation between schizophrenia and AFB in women stratified into younger and older groups. We find evidence for an association between predicted genetic risk of schizophrenia and AFB in women (P-value = 1.12E-05), and we show genetic heterogeneity between younger and older AFB groups (P-value = 3.45E-03). The genetic correlation between schizophrenia and AFB in the younger AFB group is -0.16 (SE = 0.04) while that between schizophrenia and AFB in the older AFB group is 0.14 (SE = 0.08). Our results suggest that early, and perhaps also late, age at first birth in women is associated with increased genetic risk for schizophrenia in the UK Biobank sample. These findings contribute new insights into factors contributing to the complex bio-social risk architecture underpinning the association between parental age and offspring mental health.Peer reviewe
Velocity-space sensitivity of the time-of-flight neutron spectrometer at JET
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- Publication venue
- 'AIP Publishing'
- Publication date
- 01/01/2014
- Field of study
The velocity-space sensitivities of fast-ion diagnostics are often described by so-called weight functions. Recently, we formulated weight functions showing the velocity-space sensitivity of the often dominant beam-target part of neutron energy spectra. These weight functions for neutron emission spectrometry (NES) are independent of the particular NES diagnostic. Here we apply these NES weight functions to the time-of-flight spectrometer TOFOR at JET. By taking the instrumental response function of TOFOR into account, we calculate time-of-flight NES weight functions that enable us to directly determine the velocity-space sensitivity of a given part of a measured time-of-flight spectrum from TOFOR
Relationship of edge localized mode burst times with divertor flux loop signal phase in JET
- Author
- Abel I.
- Afanesyev V.
- Aftanas M.
- Agarici G.
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- Ahonen E.
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- Alper B.
- Altmann H.
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- Ambrosino G.
- Amosov V.
- Amwiddowson A.M.Widdowson
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- Andreev V.
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- Anghel A.
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- Publication venue
- 'AIP Publishing'
- Publication date
- 01/01/2014
- Field of study
A phase relationship is identified between sequential edge localized modes (ELMs) occurrence times in a set of H-mode tokamak plasmas to the voltage measured in full flux azimuthal loops in the divertor region. We focus on plasmas in the Joint European Torus where a steady H-mode is sustained over several seconds, during which ELMs are observed in the Be II emission at the divertor. The ELMs analysed arise from intrinsic ELMing, in that there is no deliberate intent to control the ELMing process by external means. We use ELM timings derived from the Be II signal to perform direct time domain analysis of the full flux loop VLD2 and VLD3 signals, which provide a high cadence global measurement proportional to the voltage induced by changes in poloidal magnetic flux. Specifically, we examine how the time interval between pairs of successive ELMs is linked to the time-evolving phase of the full flux loop signals. Each ELM produces a clear early pulse in the full flux loop signals, whose peak time is used to condition our analysis. The arrival time of the following ELM, relative to this pulse, is found to fall into one of two categories: (i) prompt ELMs, which are directly paced by the initial response seen in the flux loop signals; and (ii) all other ELMs, which occur after the initial response of the full flux loop signals has decayed in amplitude. The times at which ELMs in category (ii) occur, relative to the first ELM of the pair, are clustered at times when the instantaneous phase of the full flux loop signal is close to its value at the time of the first ELM
Multiancestry analysis of the HLA locus in Alzheimerâs and Parkinsonâs diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
- Author
- Aarsland Dag
- Aarsland Dag
- Abdelnour Carla
- Abraham Richard
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- Livingston Gill
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- Love Seth
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- Luis Royo Jose
- Luo Guo
- Lupton Michelle
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- LuĂs Royo Jose
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- Mignot Emmanuel
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- Miyashita Akinori
- Moebus Susanne
- Moebus Susanne
- Moebus Susanne
- Mok Shi Qi
- Mok Vincent
- Mol Merel
- Molina-Porcel Laura
- Montrreal L.
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- Moreno Fermin
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- Moreno M.
- Moreno Mariona
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- Morgan Kevin
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- Muchnik Carolina
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- Nacmias Benedetta
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- Naito Tatsuhiko
- Nash William
- Natunen Teemu
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- Niida Shumpei
- Nordestgaard BĂžrge G.
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- Novack Gisela
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- O'Donovan Michael
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- Papenberg Goran
- Papma Janne
- Park Hyeonseul
- Parnetti Lucilla
- Parnetti Lucilla
- Parveen Kayenat
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- Pasquier Florence
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- Passmore Peter
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- Pei Zhong
- Peixoto Leal Thiago
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- PelejĂ Esther
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- Pericard Pierre
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- Thonberg HĂ„kan
- Toda Tatsushi
- Todd Stephen
- Todd Stephen
- Traykov Latchezar
- Tremolizzo Lucio
- Tremolizzo Lucio
- Tsolaki Magda
- Tsolaki Magda
- Tuomilehto Jaakko
- Turton James
- TybjĂŠrg-Hansen Anne
- Tzourio Christophe
- TĂĄarraga L.
- TĂĄrraga LluĂs
- Uitterlinden Andre
- Ullgren Abbe
- Ulstein Ingun
- Ulstein Ingun
- Uphill James
- Vacca Alessandro
- Valero S.
- Valero S.
- Valero Sergi
- Van Broeckhoven Christine
- van der Flier Wiesje
- van der Flier Wiesje M.
- van der Lee Sven J.
- van der Lugt Aad
- Van Dongen Jasper
- van Duijn Cornelia M.
- Van Duin Cornelia
- van Rooij Jeroen
- van Swieten John
- van Swieten John
- Vandenberghe Rik
- Vardy Emma
- Vargas L.
- Vargas Liliana
- Verhey Frans
- Verhey Frans
- Vicente M.P.
- Vidal Jean-SĂ©bastien
- Vigo-Ortega R.
- Vigo-Ortega R.
- Vivancos L.
- Vogelgsang Jonathan
- Vyhnalek Martin
- Vyhnalek Martin
- Waern Margda
- Wagner Michael
- Wallon David
- Wallon David
- Warden Donald
- Warner Nick
- Warren Jason D.
- Weber Heike
- Weinhold Leonie
- Wichmann H-Erich
- Wilcock Gordon
- Williams Amy
- Williams Julie
- Williams Julie
- Williams Julie
- Wiltfang Jens
- Wiltfang Jens
- Wiltfang Jens
- Windle Gill
- Woods Bob
- Wu Yih-Ru
- Xu Renshi
- Xu Yu-ming
- Yan Yaping
- Yang Jing
- Yannakoulia Mary
- Yaqub Amber
- Yogeshwar Selina Maria
- Yonkova Mihova Kalina
- Yu Eric
- Zetterberg Henrik
- Zettergren Anna
- Zhang Jing
- Zulaica Miren
- Ălvarez I.
- Ălvarez V.
- Ălvarez Victoria
- Publication venue
- National Academy of Sciences
- Publication date
- 29/08/2023
- Field of study
Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinsonâs disease (PD) and Alzheimerâs disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased AÎČ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues
Whole-genome sequencing reveals host factors underlying critical COVID-19
- Author
- Abd Elghafar M.S.
- Abdel-Aziz M.
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- Ă svold B.O.
- Publication venue
- Springer Science and Business Media LLC
- Publication date
- 07/07/2022
- Field of study
Critical COVID-19 is caused by immune-mediated inflammatory lung injury. Host genetic variation influences the development of illness requiring critical care1 or hospitalization2,3,4 after infection with SARS-CoV-2. The GenOMICC (Genetics of Mortality in Critical Care) study enables the comparison of genomes from individuals who are critically ill with those of population controls to find underlying disease mechanisms. Here we use whole-genome sequencing in 7,491 critically ill individuals compared with 48,400 controls to discover and replicate 23 independent variants that significantly predispose to critical COVID-19. We identify 16 new independent associations, including variants within genes that are involved in interferon signalling (IL10RB and PLSCR1), leucocyte differentiation (BCL11A) and blood-type antigen secretor status (FUT2). Using transcriptome-wide association and colocalization to infer the effect of gene expression on disease severity, we find evidence that implicates multiple genesâincluding reduced expression of a membrane flippase (ATP11A), and increased expression of a mucin (MUC1)âin critical disease. Mendelian randomization provides evidence in support of causal roles for myeloid cell adhesion molecules (SELE, ICAM5 and CD209) and the coagulation factor F8, all of which are potentially druggable targets. Our results are broadly consistent with a multi-component model of COVID-19 pathophysiology, in which at least two distinct mechanisms can predispose to life-threatening disease: failure to control viral replication; or an enhanced tendency towards pulmonary inflammation and intravascular coagulation. We show that comparison between cases of critical illness and population controls is highly efficient for the detection of therapeutically relevant mechanisms of disease
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