26 research outputs found
Bone marrow mesenchymal stromal cell-derived extracellular matrix displays altered glycosaminoglycan structure and impaired functionality in Myelodysplastic Syndromes
- Author
- Publication venue
- Lausanne : Frontiers Media
- Publication date
- 01/01/2022
- Field of study
Myelodysplastic syndromes (MDS) comprise a heterogeneous group of hematologic malignancies characterized by clonal hematopoiesis, one or more cytopenias such as anemia, neutropenia, or thrombocytopenia, abnormal cellular maturation, and a high risk of progression to acute myeloid leukemia. The bone marrow microenvironment (BMME) in general and mesenchymal stromal cells (MSCs) in particular contribute to both the initiation and progression of MDS. However, little is known about the role of MSC-derived extracellular matrix (ECM) in this context. Therefore, we performed a comparative analysis of in vitro deposited MSC-derived ECM of different MDS subtypes and healthy controls. Atomic force microscopy analyses demonstrated that MDS ECM was significantly thicker and more compliant than those from healthy MSCs. Scanning electron microscopy showed a dense meshwork of fibrillar bundles connected by numerous smaller structures that span the distance between fibers in MDS ECM. Glycosaminoglycan (GAG) structures were detectable at high abundance in MDS ECM as white, sponge-like arrays on top of the fibrillar network. Quantification by Blyscan assay confirmed these observations, with higher concentrations of sulfated GAGs in MDS ECM. Fluorescent lectin staining with wheat germ agglutinin and peanut agglutinin demonstrated increased deposition of N-acetyl-glucosamine GAGs (hyaluronan (HA) and heparan sulfate) in low risk (LR) MDS ECM. Differential expression of N-acetyl-galactosamine GAGs (chondroitin sulfate, dermatan sulfate) was observed between LR- and high risk (HR)-MDS. Moreover, increased amounts of HA in the matrix of MSCs from LR-MDS patients were found to correlate with enhanced HA synthase 1 mRNA expression in these cells. Stimulation of mononuclear cells from healthy donors with low molecular weight HA resulted in an increased expression of various pro-inflammatory cytokines suggesting a contribution of the ECM to the inflammatory BMME typical of LR-MDS. CD34+ hematopoietic stem and progenitor cells (HSPCs) displayed an impaired differentiation potential after cultivation on MDS ECM and modified morphology accompanied by decreased integrin expression which mediate cell-matrix interaction. In summary, we provide evidence for structural alterations of the MSC-derived ECM in both LR- and HR-MDS. GAGs may play an important role in this remodeling processes during the malignant transformation which leads to the observed disturbance in the support of normal hematopoiesis
A time-resolved proteomic and prognostic map of COVID-19
- Author
- Alius Florian
- Andermann Tim
- Aulakh Simran Kaur
- Behrens Uwe
- Blyuss Oleg
- Bosquillon de Jarcy Laure
- Breitbart Astrid
- Bremer Felix
- Briesemeister Dana
- Brumhard Sophia
- Campbell Archie
- Conrad Claudia
- Corman Victor M.
- Correia-Melo Clara
- Dang-Heine Chantip
- Demichev Vadim
- Denker Sophy
- Doehn Jan M.
- Drosten C.
- Eckardt Kai-Uwe
- Edel Andreas
- Enghard Philipp
- Ferse Carolin
- Freiwald Anja
- Garcia Carmen
- Georg Philipp
- Gr\ufcning Nana-Maria
- Grund Daniel
- H\ufcbner Ralf H.
- Haenel Sascha S.
- Hayward Caroline
- Heim Katrin M.
- Helbig Elisa T.
- Hilbe Richard
- Hillus David
- Hippenstiel Stefan
- Horn Alexandra
- Hummel Michael
- J\ufcrgens Linda
- Joannidis Michael
- K\uf6rner Roland
- Kasper Stefanie
- Keller M. A.
- Klein Sebastian J.
- Kleinschmidt Malte
- Knape Philipp
- Krannich Alexander
- Kretzler Lucie
- Kruse Jan M.
- Kurth Florian
- L\uf6ffler-Ragg Judith
- Lehner Lukas
- Lemke Oliver
- Li Linna
- Li Yaosi
- Lieker Emma
- Lilley Kathryn
- Lingscheid Tilman
- Lippert Lena J.
- Ludwig Daniela
- M\ufclleder Michael
- M\ufcller-Redetzky Holger
- Machleidt Felix
- Marioni Riccardo E.
- Messner Christoph B.
- Meyer-Arndt Lil
- Millet Bel\ue9n
- Mittermaier Mirja
- Nazarenko Tatiana
- Olk Nadine
- Opitz Bastian
- Pergantis Panagiotis
- Pfeiffer Moritz
- Pizzini Alex
- Porteous David J.
- R\uf6hl Annika
- R\uf6hle Robert
- R\uf6nnefarth Maria
- Rad\ufcnzel Peter
- Ralser M.
- Ramharter Michael
- Ruwwe-Gl\uf6senkamp Christoph
- Sahanic Sabina
- Sander Leif Erik
- Sawitzki Birgit
- Sch\ufcrmann Dirk
- Sch\ufcrmann Mariana
- Schaefer Benedikt
- Schmidt Sein
- Schwanitz Georg
- Sonnweber Thomas
- Spies Claudia
- Stegemann Miriam S.
- Stubbemann Paula
- Suttorp Norbert
- Szyrwiel Lukasz
- Tancevski Ivan
- Temmesfeld-Wollbr\ufcck Bettina
- Thibeault Charlotte
- Timms John F.
- Tober-Lau Pinkus
- Treue Denise
- Uhrig Alexander
- Vernardis Spyros I.
- von Kalle Christof
- Wagner Sonja
- Weber-Carstens Steffen
- Wendisch Daniel
- White Matthew
- Whitwell Harry
- Wirsching Isabelle
- Witzenrath Martin
- Wohlfarter Yvonne
- Wollboldt Christian
- Wu Yinan
- Zaikin Alexey
- Zelezniak Aleksej
- Zickler Daniel
- Zoller Heinz
- Zoller Thomas
- Zvorc Saskia
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2021
- Field of study
COVID-19 is highly variable in its clinical presentation, ranging from asymptomatic infection to severe organ damage and death. We characterized the time-dependent progression of the disease in 139 COVID-19 inpatients by measuring 86 accredited diagnostic parameters, such as blood cell counts and enzyme activities, as well as untargeted plasma proteomes at 687 sampling points. We report an initial spike in a systemic inflammatory response, which is gradually alleviated and followed by a protein signature indicative of tissue repair, metabolic reconstitution, and immunomodulation. We identify prognostic marker signatures for devising risk-adapted treatment strategies and use machine learning to classify therapeutic needs. We show that the machine learning models based on the proteome are transferable to an independent cohort. Our study presents a map linking routinely used clinical diagnostic parameters to plasma proteomes and their dynamics in an infectious disease
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
- Author
- Abner Erin
- Adams Hieab H
- Adams Perrie M.
- Aguilar Miquel
- Ahmad Shahzad
- Al-Chalabi Ammar
- Albert Marilyn S.
- Albin Roger L.
- Allen Mariet
- Alvarez Victoria
- Amin Najaf
- Amouyel Philippe
- Apostolova Liana G.
- Arcaro Marina
- Arnold Steven E.
- Aspelund Thor
- Asthana Sanjay
- Atwood Craig S.
- Bacq Delphine
- Badarinarayan Nandini
- Baldwin Clinton T.
- Barber Imelda S.
- Barber Robert C.
- Barnes Lisa L.
- Barral Sandra
- Beach Thomas G.
- Becker James T.
- Beecham Gary W.
- Beekly Duane
- Behrens Timothy W.
- Beiser Alexa S.
- Bellenguez Céline
- Benito Yoland Aladro
- Bennett David A.
- Berr Claudine
- Bigio Eileen H.
- Bird Thomas D.
- Bis Joshua C.
- Blacker Deborah
- Blesa Rafael
- Boada Merce
- Boccardi Virginia
- Boerwinkle Eric
- Boeve Bradley F.
- Boland Anne
- Bonuccelli Ubaldo
- Bosco Paolo
- Bossù Paola
- Bowen James D.
- Boxer Adam
- Braae Anne
- Braddel Amy
- Bras Jose
- Brayne Carol
- Brice Alexis
- Brody Jennifer A
- Brookes Keeley
- Brown Kristelle
- Brundin Rosemarie
- Bruni Amalia Cecilia
- Bullido María J.
- Burgess Jeremy D.
- Burke James R.
- Burns Jeffrey M.
- Buxbaum Joseph D.
- Caffarra Paolo
- Cairns Nigel J.
- Caltagirone Carlo
- Campion Dominique
- Cantwell Laura B.
- Cao Chuanhai
- Carlson Chris S.
- Carlsson Cynthia M.
- Carney Regina M.
- Carrasquillo Minerva M.
- Carrell David
- Carroll Steven L.
- Cecchetti Roberta
- Chakrabarty Paramita
- Chapman Jade
- Chen Yuning
- Choi Seung-Hoan
- Chouraki Vincent
- Chui Helena C.
- Ciaramella Antonio
- Clarimón Jordi
- Clark David G.
- Collinge John
- Combarros Onofre
- Concari Letizia
- Corcoran Chris
- Coto Eliecer
- Craig David
- Crane Paul K.
- Cribbs David H.
- Crocco Elizabeth A.
- Cruchaga Carlos
- Cupidi Chiara
- Cupples L Adrienne
- Daniele Antonio
- Daniilidou Makrina
- Dartigues Jean-François
- De Deyn Peter P.
- De Jager Philip L
- Decarli Charles
- Deleuze Jean-François
- Denning Nicola
- Derbois Céline
- Dermecourt Vincent
- Destefano Anita L.
- Diaz Carolina Ceballos
- Dichgans Martin
- Dick Malcolm
- Dickson Dennis W
- Dombroski Beth
- Doody Rachelle S.
- Duara Ranjan
- Dubois Bruno
- Dufouil Carole
- Dulary Cécile
- Dunstan Melanie
- Dupuis Josée
- Eiriksdottir Gudny
- Emilsson Valur
- Engelborghs Sebastien
- Epelbaum Jacques
- Ertekin-Taner Nilufer
- Escott-Price Valentina
- Evans Denis A.
- Faber Kelley M.
- Fairchild Thomas J.
- Fairén Mònica Díez
- Fallon Kenneth B.
- Fardo David W.
- Farlow Martin R.
- Farrer Lindsay A.
- Fenoglio Chiara
- Fernadez Carmen Muñoz
- Ferris Steven
- Fievet Nathalie
- Fitzpatrick Annette L.
- Fornage Myriam
- Foroud Tatiana M.
- Forsell Charlotte
- Forstner Andreas J.
- Fortea Juan
- Fox Nick C.
- Frank-García Ana
- Fratiglioni Laura
- Frosch Matthew P.
- Funk Cory C.
- Galasko Douglas R.
- Galimberti Daniela
- Gallo Maura
- Garcia Florentino Sanchez
- Garcia Melissa E.
- Garzia Fabienne
- Gearing Marla
- Gerrish Amy
- Geschwind Daniel H.
- Ghetti Bernardino
- Giedraitis Vilmantas
- Giegling Ina
- Gilbert John R.
- Gill Michael
- Goate Alison M.
- Golamaully Feroze
- Golde Todd E.
- Graff Caroline
- Graff-Radford Neill R.
- Graham Robert R
- Green Robert C.
- Grenier-Boley Benjamin
- Grove Megan L.
- Growdon John H.
- Gu Wei
- Gudnason Vilmundur
- Guerreiro Rita
- Haapasalo Annakaisa
- Haines Jonathan L.
- Hakonarson Hakon
- Hamilton Ronald L.
- Hamilton-Nelson Kara L.
- Hampel Harald
- Hannequin Didier
- Hanon Olivier
- Hardy John
- Harold Denise
- Harrell Lindy E.
- Hartmann Annette M.
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Henández Isabel
- Herms Stefan
- Heun Reinhard
- Hill Matt
- Hiltunen Mikko
- Himali Jayanadra J.
- Hodges Angela
- Hoffmann Per
- Hofman Albert
- Holmes Clive
- Honig Lawrence S.
- Huebinger Ryan M.
- Huentelman Matthew J.
- Hughes Joseph T.
- Hulette Christine M.
- Hyman Bradley T.
- Ikram M Arfan
- Ingelsson Martin
- Jakobsdottir Johanna
- Jarvik Gail P.
- Jessen Frank
- Jian Xueqiu
- Jin Lee-Way
- Johnston Janet
- Jones Lesley
- Jr W T Longstreth
- Jun Gyungah
- Kamboh M Ilyas
- Karydas Anna
- Katz Mindy J.
- Kauwe John Keoni
- Kaye Jeffrey A.
- Keene C Dirk
- Keller Lina
- Kilander Lena
- Kim Ronald
- Kinhult-Stählbom Anne
- Kloszewska Iwona
- Koivisto Anne Maria
- Kornhuber Johannes
- Kowall Neil W.
- Kramer Joel H.
- Kukull Walter A.
- Kunkle Brian W.
- Kuzma Amanda B.
- Laferla Frank M.
- Lah James J.
- Lambert Jean-Charles
- Lannfelt Lars
- Larson Eric B.
- Lawlor Brian
- Leber Markus
- Leverenz James B.
- Levey Allan I.
- Levy Daniel
- Li Ge
- Li Hongdong
- Li Shuo
- Lieberman Andrew P.
- Lilius Lena
- Lin Honghuang
- Lipton Richard B.
- Lleó Alberto
- Lopez Oscar L.
- Lord Jenny
- Lovestone Simon
- Lunetta Kathryn L.
- Lupton Michelle K.
- Lyketsos Constantine G.
- Lynch Aoibhinn
- Maier Wolfgang
- Majounie Elisa
- Malamon John
- Maletta Raffaele Giovanni
- Mancuso Michelangelo
- Marshall Rachel
- Marson Daniel C.
- Martin Eden R.
- Martiniuk Frank
- Mash Deborah C.
- Masliah Eliezer
- Masullo Carlo
- Mayeux Richard
- Mayhaus Manuel
- McCormick Wayne C.
- McCurry Susan M.
- McDavid Andrew N.
- McGuinness Bernadette
- McKee Ann C.
- Mead Simon
- Mecocci Patrizia
- Medway Christopher
- Meggy Alun
- Mesulam Marsel
- Miller Bruce L.
- Miller Carol A.
- Miller Joshua W.
- Moebus Susanne
- Montine Thomas J.
- Moreno-Grau Sonia
- Morgan Kevin
- Morgan Taniesha
- Morris John C.
- Mosley Thomas H.
- Mukherjee Shubhabrata
- Munger Ron
- Murrell Jill R.
- Myers Amanda J.
- Nacmias Benedetta
- Naj Adam C
- Naranjo Maria Candida Deniz
- Norton Maria
- Nöthen Markus M.
- O'Bryant Sid
- O'Donnell Christopher J.
- O'Donovan Michael C.
- Olaso Robert
- Olichney John M.
- Orfei Maria Donata
- Ortega-Cubero Sara
- Owen Michael J.
- Pankratz Vernon S.
- Panza Francesco
- Parisi Joseph E.
- Pasquier Florence
- Passmore Peter
- Pastor Pau
- Patel Yogen
- Paulson Henry L.
- Pericak-Vance Margaret A.
- Perry William
- Peskind Elaine
- Peters Oliver
- Petersen Ronald C.
- Pichler Sabrina
- Pierce Aimee
- Pilotto Alberto
- Poon Wayne W.
- Potter Huntington
- Powell John
- Price Nathan D.
- Proitsi Petra
- Psaty Bruce M.
- Qu Liming
- Quinn Joseph F.
- Raj Ashok
- Ramirez Alfredo
- Raskind Murray
- Raybould Rachel
- Reiman Eric M.
- Reisberg Barry
- Reisch Joan S.
- Reitz Christiane
- Riedel-Heller Steffi
- Riemenschneider Matthias
- Ringman John M.
- Ritchie Karen
- Rivadeneira Fernando
- Roberson Erik D.
- Rogaeva Ekaterina
- Rosen Howard J.
- Rosenberg Roger N.
- Rotter Jerome I.
- Royall Donald R.
- Rubinsztein David C
- Ruiz Agustin
- Rujescu Dan
- Sacchinelli Eleonora
- Sager Mark A.
- Sano Mary
- Satizabal Claudia L.
- Saykin Andrew J.
- Scarpini Elio
- Schellenberg Gerard D.
- Scherer Martin
- Schmidt Helena
- Schmidt Reinhold
- Schneider Julie A.
- Schneider Lon S.
- Seeley William W.
- Septier Gislain
- Seripa Davide
- Serpente Maria
- Seshadri Sudha
- Shaw Christopher E.
- Sims Rebecca
- Sleegers Kristel
- Smith Albert V.
- Smith Amanda G.
- Soininen Hilkka
- Solfrizzi Vincenzo
- Sonnen Joshua A.
- Sorbi Sandro
- Sotolongo-Grau Oscar
- Spalletta Gianfranco
- Spina Salvatore
- Squassina Alessio
- St George-Hyslop Peter
- Stern Robert A.
- Sussams Rebecca
- Swerdlow Russell H.
- Sánchez-Juan Pascual
- Tanzi Rudolph E.
- Tarraga Lluis
- Taylor Sarah
- Thomas Charlene
- Thomas Rhodri
- Thonberg Hakan
- Thornton-Wells Tricia A.
- Todd Stephen
- Trojanowski John Q.
- Troncoso Juan C.
- Tschanz Joann
- Tsolaki Magda
- Tsuang Debby W.
- Turton James
- Tzourio Christophe
- Tzourio Christophe
- Uitterlinden Andre G.
- Uphill James
- Urbano Maria
- Valladares Otto
- Van Broeckhoven Christine
- Van Deerlin Vivianna M.
- Van Der Lee Sven J
- Van Duijn Cornelia M.
- Van Eldik Linda J.
- Vandenberghe Rik
- Vardarajan Badri N.
- Vellas Bruno
- Vinters Harry V.
- Vonsattel Jean Paul
- Vronskaya Maria
- Wallon David
- Wang Li-San
- Wang Xue
- Weintraub Sandra
- Welsh-Bohmer Kathleen A.
- White Charles C.
- Whitehead Patrice
- Wilhelmsen Kirk C.
- Williams Julie
- Williamson Jennifer
- Wingo Thomas S.
- Winslow Ashley R.
- Wolters Frank J
- Woltjer Randall L.
- Wright Clinton B.
- Wu Chuang-Kuo
- Yang Qiong
- Younkin Steven G.
- Yu Chang-En
- Yu Lei
- Zhao Yi
- Publication venue
- Publication date
- 01/01/2017
- Field of study
We identified rare coding variants associated with Alzheimer’s disease (AD) in a 3-stage case-control study of 85,133 subjects. In stage 1, 34,174 samples were genotyped using a whole-exome microarray. In stage 2, we tested associated variants (P<1×10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, an additional 14,997 samples were used to test the most significant stage 2 associations (P<5×10-8) using imputed genotypes. We observed 3 novel genome-wide significant (GWS) AD associated non-synonymous variants; a protective variant in PLCG2 (rs72824905/p.P522R, P=5.38×10-10, OR=0.68, MAFcases=0.0059, MAFcontrols=0.0093), a risk variant in ABI3 (rs616338/p.S209F, P=4.56×10-10, OR=1.43, MAFcases=0.011, MAFcontrols=0.008), and a novel GWS variant in TREM2 (rs143332484/p.R62H, P=1.55×10-14, OR=1.67, MAFcases=0.0143, MAFcontrols=0.0089), a known AD susceptibility gene. These protein-coding changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified AD risk genes. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to AD development
Fabrication of chitosan@calcium alginate microspheres with porous core and compact shell, and application as a quick traumatic hemostat
- Author
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Biosynthetic calcium-doped biosilica with multiple hemostatic properties for hemorrhage control
- Author
- Publication venue
- 'Royal Society of Chemistry (RSC)'
- Publication date
- 01/01/2018
- Field of study
Oxidized cellulose-based hemostatic materials
- Author
- Abe
- Abzaeva
- Aktekin
- Arat
- Bajerová
- Basagaoglu Demirekin
- Bazghaleh
- Behrens
- Capozza
- Cetiner
- Chakoli
- Chakoli
- Chen
- Cheng
- Cheng
- Cheng
- Cheng
- Cheng
- Cheng
- Coseri
- de Araújo Júnior
- di Lena
- Dimitrijevich
- El-Anwar
- Elmorsy
- Franceschini
- Gajjar
- Georgiou
- Gurcay
- Haidari
- Han
- Hanks
- He
- He
- Hickman
- Hofman
- Hou
- Hsueh
- Hutchinson
- Ishii
- Isogai
- Jianwei Ma
- Jinmei He
- Jiwei Li
- Jun
- Kaptan
- Ko
- Kordestani
- Křížová
- Lai
- Lai
- Lan
- Levy
- Lewis
- Lewis
- Li
- Liu
- Liu
- Liu
- Liu
- Liu
- MacDonald
- Martina
- Masci
- Matonick
- Moťková
- Moťková
- Muglali
- Nagamatsu
- Nagamatsu
- Nguyen
- Nie
- Noh
- Piozzi
- Qiu
- Quan
- Queirós
- Rassu
- Rosenburg
- Ryšavá
- Sabel
- Santhosh Kumar
- Schonauer
- Sezer
- Sezer
- Sezer
- Shaohua Zhang
- Shaojuan Chen
- Shefa
- Shefa
- Shefa
- Sirvio
- Slezak
- Smole
- Sukul
- Sun
- Tanaka
- Tartaglia
- Temel
- Tian
- Tomizawa
- Toshikj
- Vytrasova
- Wagenhäuser
- Wang
- Wang
- Wolfe
- Wu
- Wu
- Wu
- Wu
- Wu
- Wu
- Xiying Zhang
- Xu
- Yadav
- Yan
- Yang
- Yu
- Yu
- Publication venue
- 'Elsevier BV'
- Publication date
- Field of study
Hemostatic nanotechnologies for external and internal hemorrhage management
- Author
- Adeli-Sardou
- Aderibigbe
- Aillon
- Annabi
- Behrens
- Behrens
- Bennett
- Bertram
- Bogdan
- Brenni
- Broderick
- Broos
- Butler Jr.
- Cabral
- Canning
- Chakoli
- Chapin
- Chen
- Cheng
- Chung
- Clavé
- Clifford
- Dev
- di Lena
- Dosio
- Du
- Ecker
- Ellis-Behnke
- Ellis-Behnke
- Fan
- Farzamfar
- Gaffney
- Gaharwar
- Gao
- Gautam
- Girao
- Girish
- Gkikas
- Golafshan
- Graca
- Grossen
- Guo
- Haji-Valizadeh
- Hangge
- Hartgerink
- He
- Hickman
- Hickman
- Hsu
- Hu
- Hu
- Huang
- Huang
- Huang
- Huckaby
- Hudson
- Hunt
- Ilinskaya
- Jackson
- Jain
- Jain
- Jaiswal
- Jiang
- Jin
- Jung
- Kagoma
- Kamaly
- Katus
- Katzenell
- Kauvar
- Kheirabadi
- Kim
- Kudela
- Leonhardt
- Li
- Li
- Li
- Li
- Liang
- Liang
- Liu
- Liu
- Long
- Lopez
- Luo
- MacDonald
- Manon-Jensen
- Matus
- McManus
- Meddahi-Pelle
- Mertaniemi
- Mitragotri
- Modery
- Morgan
- Muthiah Pillai
- Nakielski
- Nakielski
- Nasiri
- Ou
- Palta
- Parani
- Park
- Qin
- Ravikumar
- Raymond
- Rong
- Rothwell
- Ruan
- Ryan
- Ryu
- Sanandiya
- Semberova
- Semler
- Sen Gupta
- Sepulveda
- Sezer
- Shabanova
- Shahmoradi
- Shefa
- Shefa
- Shen
- Shi
- Sundaram
- Terent'eva
- Thomas
- Udangawa
- Varga-Szabo
- Versteeg
- Walia
- Wang
- Wang
- Weber
- Wu
- Xu
- Xu
- Yang
- Zhang
- Zhang
- Zhang
- Zhang
- Zhang
- Zhao
- Zhao
- Zhou
- Zhou
- Zhu
- Zhu
- Publication venue
- 'Royal Society of Chemistry (RSC)'
- Publication date
- 01/01/2020
- Field of study
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
- Author
- A Olmos-Alonso
- A Ruiz
- AC Naj
- Adam Boxer
- Adam C Naj
- Agustin Ruiz
- Aimee Pierce
- AL Richards
- Albert Hofman
- Albert V Smith
- Alberto Lleó
- Alberto Pilotto
- Alessio Squassina
- Alexa S Beiser
- Alexis Brice
- Alfredo Ramirez
- Alison M Goate
- Allan I Levey
- Alun Meggy
- Amalia Cecilia Bruni
- Amanda B Kuzma
- Amanda G Smith
- Amanda J Myers
- Ammar Al-Chalabi
- Amy Braddel
- Amy Gerrish
- Ana Frank-García
- Andre G Uitterlinden
- Andreas J Forstner
- Andrew J Saykin
- Andrew N McDavid
- Andrew P Lieberman
- Angela Hodges
- Anita L DeStefano
- Ann C McKee
- Anna Karydas
- Annakaisa Haapasalo
- Anne Boland
- Anne Braae
- Anne Kinhult-Stählbom
- Anne Maria Koivisto
- Annette L Fitzpatrick
- Annette M Hartmann
- Antonio Ciaramella
- Antonio Daniele
- Aoibhinn Lynch
- Ashley R Winslow
- Ashok Raj
- ASP Lim
- B Devlin
- B Howie
- Badri N Vardarajan
- Barry Reisberg
- Benedetta Nacmias
- Benjamin Grenier-Boley
- Bernadette McGuinness
- Bernardino Ghetti
- Beth Dombroski
- BN Vardarajan
- BN Vardarajan
- BP Fairfax
- Bradley F Boeve
- Bradley T Hyman
- Brian Lawlor
- Brian W Kunkle
- Bruce L Miller
- Bruce M Psaty
- Bruno Dubois
- Bruno Vellas
- C Cruchaga
- C Dirk Keene
- C Fuchsberger
- C Igartua
- C Schwab
- Carlo Caltagirone
- Carlo Masullo
- Carlos Cruchaga
- Carmen Muñoz Fernadez
- Carol A Miller
- Carol Brayne
- Carole Dufouil
- Carolina Ceballos Diaz
- Caroline Graff
- Chang-En Yu
- Charlene Thomas
- Charles C White
- Charles DeCarli
- Charlotte Forsell
- Chiara Cupidi
- Chiara Fenoglio
- Chris Corcoran
- Chris S Carlson
- Christiane Reitz
- Christine M Hulette
- Christine Van Broeckhoven
- Christophe Tzourio
- Christopher E Shaw
- Christopher J O'Donnell
- Christopher Medway
- Chuang-Kuo Wu
- Chuanhai Cao
- CJ Willer
- Claudia L Satizabal
- Claudine Berr
- Clinton B Wright
- Clinton T Baldwin
- Clive Holmes
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- Joan S Reisch
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- Tricia A Thornton-Wells
- Ubaldo Bonuccelli
- V Escott-Price
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- Valentina Escott-Price
- Valur Emilsson
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- Victoria Alvarez
- Vilmantas Giedraitis
- Vilmundur Gudnason
- Vincent Chouraki
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- Vincenzo Solfrizzi
- Virginia Boccardi
- Vivianna M Van Deerlin
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- Wolfgang Maier
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- Xueqiu Jian
- Y Lu
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- Y Zhang
- Yi Zhao
- Yogen Patel
- Yoland Aladro Benito
- Yuning Chen
- Publication venue
- Nat Genet
- Publication date
- 01/01/2017
- Field of study
We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested associated variants (P < 1 × 10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, we used an additional 14,997 samples to test the most significant stage 2 associations (P < 5 × 10-8) using imputed genotypes. We observed three new genome-wide significant nonsynonymous variants associated with Alzheimer's disease: a protective variant in PLCG2 (rs72824905: p.Pro522Arg, P = 5.38 × 10-10, odds ratio (OR) = 0.68, minor allele frequency (MAF)cases = 0.0059, MAFcontrols = 0.0093), a risk variant in ABI3 (rs616338: p.Ser209Phe, P = 4.56 × 10-10, OR = 1.43, MAFcases = 0.011, MAFcontrols = 0.008), and a new genome-wide significant variant in TREM2 (rs143332484: p.Arg62His, P = 1.55 × 10-14, OR = 1.67, MAFcases = 0.0143, MAFcontrols = 0.0089), a known susceptibility gene for Alzheimer's disease. These protein-altering changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified risk genes in Alzheimer's disease. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to the development of Alzheimer's disease
Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356
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- Abdelmohsen Kotb
- Abe Akihisa
- Abedin Md Joynal
- Abeliovich Hagai
- Adachi Hiroaki
- Adams Christopher M.
- Adams Peter D.
- Adeli Khosrow
- Adhihetty Peter J.
- Adler Sharon G.
- Agam Galila
- Agarwal Rajesh
- Aghi Manish K.
- Agnello Maria
- Agostinis Patrizia
- Aguilar Patricia V.
- Aguirre-Ghiso Julio
- Airoldi Edoardo M.
- Ait-Si-Ali Slimane
- Akematsu Takahiko
- Akporiaye Emmanuel T.
- Al-Rubeai Mohamed
- Albaiceta Guillermo M.
- Albanese Chris
- Albani Diego
- Albert Matthew L.
- Aldudo Jesus
- Algül Hana
- Alirezaei Mehrdad
- Alloza Iraide
- Almasan Alexandru
- Almonte-Beceril Maylin
- Alnemri Emad S.
- Alonso Covadonga
- Altan-Bonnet Nihal
- Altieri Dario C.
- Alvarez Silvia
- Alvarez-Erviti Lydia
- Alves Sandro
- Amadoro Giuseppina
- Amano Atsuo
- Amantini Consuelo
- Ambrosio Santiago
- Amelio Ivano
- Amer Amal O.
- Amessou Mohamed
- Amon Angelika
- An Zhenyi
- Anania Frank A.
- Andersen Stig U.
- Andley Usha P.
- Andreadi Catherine K.
- Andrieu-Abadie Nathalie
- Anel Alberto
- Ann David K.
- Anoopkumar-Dukie Shailendra
- Antonioli Manuela
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- Apostolova Nadezda
- Aquila Saveria
- Aquilano Katia
- Araki Koichi
- Arama Eli
- Aranda Agustin
- Araya Jun
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- Okamoto Koji
- Okazaki Toshiro
- Oliver F. Javier
- Ollinger Karin
- Olsson Stefan
- Orban Daniel P.
- Ordonez Paulina
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- Pérez-Rodríguez Diego
- Pérez-Sala Dolores
- Pöggeler Stefanie
- Qi Xin
- Qian Wen-Bin
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- Romanelli Davide
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- Roué Gael
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- Rudolf Emil
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- Ruparelia Avnika Ashok
- Rusmini Paola
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- Russo Gian Luigi
- Russo Giuseppe
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- Ryabovol Victoria
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- Ryter Stefan W.
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- Sacher Michael
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- Sadoshima Junichi
- Saftig Paul
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- Sahni Sumit
- Saikumar Pothana
- Saito Tsunenori
- Saitoh Tatsuya
- Sakakura Koichi
- Sakoh-Nakatogawa Machiko
- Sakuraba Yasuhito
- Salazar-Roa María
- Salomoni Paolo
- Saluja Ashok K.
- Salvaterra Paul M.
- Salvioli Rosa
- Samali Afshin
- Sanchez Anthony M. J.
- Sanchez-Prieto Ricardo
- Sandri Marco
- Sanjuan Miguel A.
- Santaguida Stefano
- Santambrogio Laura
- Santoni Giorgio
- Saran Shweta
- Sardiello Marco
- Sargent Graeme
- Sarkar Pallabi
- Sarkar Sovan
- Sarrias Maria Rosa
- Sarwal Minnie M.
- Sasakawa Chihiro
- Sasaki Motoko
- Sass Miklos
- Sato Ken
- Sato Miyuki
- Satriano Joseph
- Savaraj Niramol
- Saveljeva Svetlana
- Schaefer Liliana
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- Schönthal Axel H.
- Sciarretta Sebastiano
- Scotto Kathleen
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- Seca Hugo
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- Segatori Laura
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- Shen Sanbing
- Shen Weili
- Sheng Rui
- Sheng Xianyong
- Sheng Zu-Hang
- Shepherd Trevor G.
- Shi Junyan
- Shi Qiang
- Shi Qinghua
- Shi Yuguang
- Shibutani Shusaku
- Shibuya Kenichi
- Shidoji Yoshihiro
- Shieh Jeng-Jer
- Shih Chwen-Ming
- Shimada Yohta
- Shimizu Shigeomi
- Shin Dong Wook
- Shinohara Mari L.
- Shintani Michiko
- Shintani Takahiro
- Shioi Tetsuo
- Shirabe Ken
- Shiri-Sverdlov Ronit
- Shirihai Orian
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- Shu Chih-Wen
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- Silverman Gary A.
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- Sishi Balindiwe J. N.
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- Siu Parco M.
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- Slack Ruth
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- Solhaug Anita
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- Song Fuyong
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- Song Wei
- Soo Kai Y.
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- Soong Tuck Wah
- Soontornniyomkij Virawudh
- Sorice Maurizio
- Sotgia Federica
- Soto-Pantoja David R.
- Sotthibundhu Areechun
- Sousa Maria João
- Spaink Herman P.
- Span Paul N.
- Spang Anne
- Sparks Janet D.
- Speck Peter G.
- Spector Stephen A.
- Spies Claudia D.
- Springer Wolfdieter
- Stacchiotti Alessandra
- Staels Bart
- Stang Michael T.
- Starczynowski Daniel T.
- Starokadomskyy Petro
- Steegborn Clemens
- Steele John W.
- Stefanis Leonidas
- Steffan Joan
- Stellrecht Christine M.
- Stenmark Harald
- Stepkowski Tomasz M.
- Stern Stęphan T.
- Stevens Craig
- Stockwell Brent R.
- Stoka Veronika
- Storchova Zuzana
- Stork Björn
- Stratoulias Vassilis
- Stravopodis Dimitrios J.
- Strnad Pavel
- Strohecker Anne Marie
- Stromhaug Per
- Ström Anna-Lena
- Stulik Jiri
- Su Yu-Xiong
- Su Zhaoliang
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- Subramaniam Srinivasa
- Sue Carolyn M.
- Suh Sang Won
- Sui Xinbing
- Sukseree Supawadee
- Sulzer David
- Sun Fang-Lin
- Sun Jiaren
- Sun Jun
- Sun Shi-Yong
- Sun Yang
- Sun Yi
- Sun Yingjie
- Sundaramoorthy Vinod
- Sung Joseph
- Suzuki Hidekazu
- Suzuki Kuninori
- Suzuki Naoki
- Suzuki Tadashi
- Suzuki Yuichiro J.
- Swanson Michele S.
- Swanton Charles
- Swarup Ghanshyam
- Sweeney Sean T.
- Swärd Karl
- Sylvester Paul W.
- Szatmari Zsuzsanna
- Szegezdi Eva
- Szlosarek Peter W.
- Sánchez-Alcázar José A.
- Taegtmeyer Heinrich
- Tafani Marco
- Taillebourg Emmanuel
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- Takahashi Yoshinori
- Takemura Genzou
- Takigawa Nagio
- Takáts Szabolcs
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- Tamagno Elena
- Tamburini Jerome
- Tan Cai-Ping
- Tan Lan
- Tan Mei Lan
- Tan Ming
- Tan Yee-Joo
- Tanaka Keiji
- Tanaka Masaki
- Tang Daolin
- Tang Dingzhong
- Tang Guomei
- Tanida Isei
- Tanji Kunikazu
- Tannous Bakhos A.
- Tapia Jose A.
- Tasset-Cuevas Inmaculada
- Tatar Marc
- Tavassoly Iman
- Tavernarakis Nektarios
- Taylor Allen
- Taylor Graham S.
- Taylor Gregory A.
- Taylor J. Paul
- Taylor Mark J.
- Tchetina Elena V.
- Tee Andrew R.
- Teixeira-Clerc Fatima
- Telang Sucheta
- Tencomnao Tewin
- Teng Ba-Bie
- Teng Ru-Jeng
- Terro Faraj
- Tettamanti Gianluca
- Theiss Arianne L.
- Theron Anne E.
- Thomas Kelly Jean
- Thomes Paul G.
- Thomé Marcos P.
- Thorburn Andrew
- Thorner Jeremy
- Thum Thomas
- Thumm Michael
- Thurston Teresa L. M.
- Tian Ling
- Till Andreas
- Ting Jenny Pan Yun
- Ting Jenny Pan-Yun
- Titorenko Vladimir I.
- Toker Lilach
- Toldo Stefano
- Tooze Sharon A.
- Topisirovic Ivan
- Torgersen Maria Lyngaas
- Torosantucci Liliana
- Torriglia Alicia
- Torrisi Maria Rosaria
- Tournier Cathy
- Towns Roberto
- Trajkovic Vladimir
- Travassos Leonardo H.
- Triola Gemma
- Tripathi Durga Nand
- Trisciuoglio Daniela
- Troncoso Rodrigo
- Trougakos Ioannis P.
- Truttmann Anita C.
- Tsai Kuen-Jer
- Tschan Mario P.
- Tseng Yi-Hsin
- Tsukuba Takayuki
- Tsung Allan
- Tsvetkov Andrey S.
- Tu Shuiping
- Tuan Hsing-Yu
- Tucci Marco
- Tumbarello David A.
- Turk Boris
- Turk Vito
- Turner Robin F. B.
- Tveita Anders A.
- Tyagi Suresh C.
- Ubukata Makoto
- Uchiyama Yasuo
- Udelnow Andrej
- Ueno Takashi
- Umekawa Midori
- Umemiya-Shirafuji Rika
- Underwood Benjamin R.
- Ungermann Christian
- Ureshino Rodrigo P.
- Ushioda Ryo
- Uversky Vladimir N.
- Uzcátegui Néstor L.
- Vaccari Thomas
- Vaccaro Maria I.
- Vakifahmetoglu-Norberg Helin
- Valdor Rut
- Valente Enza Maria
- Valle Luisa Dalla
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- Van den Berghe Greet
- Van Den Bosch Ludo
- van den Brink Gijs R.
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- van Golen Kenneth L.
- Van Kaer Luc
- Vandenabeele Peter
- Vandenberghe Wim
- Vanhorebeek Ilse
- Varela-Nieto Isabel
- Vasconcelos M. Helena
- Vasko Radovan
- Vavvas Demetrios G.
- Vega-Naredo Ignacio
- Velasco Guillermo
- Velentzas Athanassios D.
- Velentzas Panagiotis D.
- Vellai Tibor
- Vellenga Edo
- Vendelbo Mikkel Holm
- Venkatachalam Kartik
- Ventura Natascia
- Ventura Salvador
- Veras Patrícia S. T.
- Verdier Mireille
- Vertessy Beata G.
- Viale Andrea
- Vidal Michel
- Vieira Helena L. A.
- Vierstra Richard D.
- Vigneswaran Nadarajah
- Vij Neeraj
- Vila Miquel
- Villar Margarita
- Villar Victor H.
- Villarroya Joan
- Vindis Cécile
- Viola Giampietro
- Viscomi Maria Teresa
- Vitale Giovanni
- Vogl Dan T.
- Voitsekhovskaja Olga V.
- von Haefen Clarissa
- von Schwarzenberg Karin
- Voth Daniel E.
- Vouret-Craviari Valérie
- Vuori Kristina
- Vyas Jatin M.
- Váchová Libuše
- Véscovi Eleonora García
- Waeber Christian
- Walker Cheryl Lyn
- Walker Mark J.
- Walter Jochen
- Wan Lei
- Wan Xiangbo
- Wang Bo
- Wang Caihong
- Wang Chao-Yung
- Wang Chengshu
- Wang Chenran
- Wang Chuangui
- Wang Dong
- Wang Fen
- Wang Fuxin
- Wang Guanghui
- Wang Hai-Jie
- Wang Haichao
- Wang Hong-Gang
- Wang Hongmin
- Wang Horng-Dar
- Wang Jing
- Wang Junjun
- Wang Mei
- Wang Mei-Qing
- Wang Pei-Yu
- Wang Peng
- Wang Richard C.
- Wang Shuo
- Wang Ting-Fang
- Wang Xian
- Wang Xiao-Jia
- Wang Xiao-Wei
- Wang Xin
- Wang Xuejun
- Wang Yan
- Wang Yanming
- Wang Ying
- Wang Ying-Jan
- Wang Yipeng
- Wang Yu
- Wang Yu Tian
- Wang Yuqing
- Wang Zhi-Nong
- Wappner Pablo
- Ward Carl
- Ward Diane McVey
- Warnes Gary
- Watada Hirotaka
- Watanabe Yoshihisa
- Watase Kei
- Weaver Timothy E.
- Weekes Colin D.
- Wei Jiwu
- Weide Thomas
- Weihl Conrad C.
- Weindl Günther
- Weis Simone Nardin
- Wen Longping
- Wen Xin
- Wen Yunfei
- Westermann Benedikt
- Weyand Cornelia M.
- White Anthony R.
- White Eileen
- Whitton J. Lindsay
- Whitworth Alexander J.
- Wiels Joëlle
- Wild Franziska
- Wildenberg Manon E.
- Wileman Tom
- Wilkinson Deepti Srinivas
- Wilkinson Simon
- Willbold Dieter
- Williams Chris
- Williams Katherine
- Williamson Peter R.
- Winklhofer Konstanze F.
- Witkin Steven S.
- Wohlgemuth Stephanie E.
- Wollert Thomas
- Wolvetang Ernst J.
- Wong Esther
- Wong G. William
- Wong Richard W.
- Wong Vincent Kam Wai
- Woodcock Elizabeth A.
- Wright Karen L.
- Wu Chunlai
- Wu Defeng
- Wu Gen Sheng
- Wu Jian
- Wu Junfang
- Wu Mian
- Wu Min
- Wu Shengzhou
- Wu William K. K.
- Wu Yaohua
- Wu Zhenlong
- Xavier Cristina P. R.
- Xavier Ramnik J.
- Xia Gui-Xian
- Xia Tian
- Xia Weiliang
- Xia Yong
- Xiao Hengyi
- Xiao Jian
- Xiao Shi
- Xiao Wuhan
- Xie Chuan-Ming
- Xie Zhiping
- Xie Zhonglin
- Xilouri Maria
- Xiong Yuyan
- Xu Chuanshan
- Xu Congfeng
- Xu Feng
- Xu Haoxing
- Xu Hongwei
- Xu Jian
- Xu Jianzhen
- Xu Jinxian
- Xu Liang
- Xu Xiaolei
- Xu Yangqing
- Xu Ye
- Xu Zhi-Xiang
- Xu Ziheng
- Xue Yu
- Yamada Takahiro
- Yamamoto Ai
- Yamanaka Koji
- Yamashina Shunhei
- Yamashiro Shigeko
- Yan Bing
- Yan Bo
- Yan Xianghua
- Yan Zhen
- Yanagi Yasuo
- Yang Dun-Sheng
- Yang Jin-Ming
- Yang Liu
- Yang Minghua
- Yang Pei-Ming
- Yang Peixin
- Yang Qian
- Yang Wannian
- Yang Wei Yuan
- Yang Xuesong
- Yang Yi
- Yang Ying
- Yang Zhifen
- Yang Zhihong
- Yao Meng-Chao
- Yao Pamela J.
- Yao Xiaofeng
- Yao Zhenyu
- Yao Zhiyuan
- Yasui Linda S.
- Ye Mingxiang
- Yedvobnick Barry
- Yeganeh Behzad
- Yeh Elizabeth S.
- Yeyati Patricia L.
- Yi Fan
- Yi Long
- Yin Xiao-Ming
- Yip Calvin K.
- Yoo Yeong-Min
- Yoo Young Hyun
- Yoon Seung-Yong
- Yoshida Ken-Ichi
- Yoshimori Tamotsu
- Young Ken H.
- Yu Huixin
- Yu Jane J.
- Yu Jin-Tai
- Yu Jun
- Yu Li
- Yu W. Haung
- Yu Xiao-Fang
- Yu Zhengping
- Yuan Junying
- Yuan Zhi-Min
- Yue Beatrice Y. J. T.
- Yue Jianbo
- Yue Zhenyu
- Zacks David N.
- Zacksenhaus Eldad
- Zaffaroni Nadia
- Zaglia Tania
- Zakeri Zahra
- Zecchini Vincent
- Zeng Jinsheng
- Zeng Min
- Zeng Qi
- Zervos Antonis S.
- Zhang Donna D.
- Zhang Fan
- Zhang Guo
- Zhang Guo-Chang
- Zhang Hao
- Zhang Hong
- Zhang Hongbing
- Zhang Jian
- Zhang Jiangwei
- Zhang Jianhua
- Zhang Jing-Pu
- Zhang Li
- Zhang Lin
- Zhang Long
- Zhang Ming-Yong
- Zhang Xiangnan
- Zhang Xu Dong
- Zhang Yan
- Zhang Yang
- Zhang Yanjin
- Zhang Yingmei
- Zhang Yunjiao
- Zhao Mei
- Zhao Wei-Li
- Zhao Xiaonan
- Zhao Yan G.
- Zhao Ying
- Zhao Yongchao
- Zhao Yu-Xia
- Zhao Zhendong
- Zhao Zhizhuang J.
- Zheng Dexian
- Zheng Xi-Long
- Zheng Xiaoxiang
- Zhivotovsky Boris
- Zhong Qing
- Zhou Guang-Zhou
- Zhou Guofei
- Zhou Huiping
- Zhou Shu-Feng
- Zhou Xu-Jie
- Zhu Hongxin
- Zhu Hua
- Zhu Wei-Guo
- Zhu Wenhua
- Zhu Xiao-Feng
- Zhu Yuhua
- Zhuang Shi-Mei
- Zhuang Xiaohong
- Ziparo Elio
- Zois Christos E.
- Zoladek Teresa
- Zong Wei-Xing
- Zorzano Antonio
- Zughaier Susu M.
- Publication venue
- 'Informa UK Limited'
- Publication date
- 01/01/2016
- Field of study
non present