TY  - JOUR
A1  - Bousquet, Jean
A1  - Anto, Josep M.
A1  - Bachert, Claus
A1  - Haahtela, Tari
A1  - Zuberbier, Torsten
A1  - Czarlewski, Wienczyslawa
A1  - Bedbrook, Anna
A1  - Bosnic‐Anticevich, Sinthia
A1  - Walter Canonica, G.
A1  - Cardona, Victoria
A1  - Costa, Elisio
A1  - Cruz, Alvaro A.
A1  - Erhola, Marina
A1  - Fokkens, Wytske J.
A1  - Fonseca, Joao A.
A1  - Illario, Maddalena
A1  - Ivancevich, Juan‐Carlos
A1  - Jutel, Marek
A1  - Klimek, Ludger
A1  - Kuna, Piotr
A1  - Kvedariene, Violeta
A1  - Le, LTT
A1  - Larenas‐Linnemann, Désirée E.
A1  - Laune, Daniel
A1  - Lourenço, Olga M.
A1  - Melén, Erik
A1  - Mullol, Joaquim
A1  - Niedoszytko, Marek
A1  - Odemyr, Mikaëla
A1  - Okamoto, Yoshitaka
A1  - Papadopoulos, Nikos G.
A1  - Patella, Vincenzo
A1  - Pfaar, Oliver
A1  - Pham‐Thi, Nhân
A1  - Rolland, Christine
A1  - Samolinski, Boleslaw
A1  - Sheikh, Aziz
A1  - Sofiev, Mikhail
A1  - Suppli Ulrik, Charlotte
A1  - Todo‐Bom, Ana
A1  - Tomazic, Peter‐Valentin
A1  - Toppila‐Salmi, Sanna
A1  - Tsiligianni, Ioanna
A1  - Valiulis, Arunas
A1  - Valovirta, Erkka
A1  - Ventura, Maria‐Teresa
A1  - Walker, Samantha
A1  - Williams, Sian
A1  - Yorgancioglu, Arzu
A1  - Agache, Ioana
A1  - Akdis, Cezmi A.
A1  - Almeida, Rute
A1  - Ansotegui, Ignacio J.
A1  - Annesi‐Maesano, Isabella
A1  - Arnavielhe, Sylvie
A1  - Basagaña, Xavier
A1  - D. Bateman, Eric
A1  - Bédard, Annabelle
A1  - Bedolla‐Barajas, Martin
A1  - Becker, Sven
A1  - Bennoor, Kazi S.
A1  - Benveniste, Samuel
A1  - Bergmann, Karl C.
A1  - Bewick, Michael
A1  - Bialek, Slawomir
A1  - E. Billo, Nils
A1  - Bindslev‐Jensen, Carsten
A1  - Bjermer, Leif
A1  - Blain, Hubert
A1  - Bonini, Matteo
A1  - Bonniaud, Philippe
A1  - Bosse, Isabelle
A1  - Bouchard, Jacques
A1  - Boulet, Louis‐Philippe
A1  - Bourret, Rodolphe
A1  - Boussery, Koen
A1  - Braido, Fluvio
A1  - Briedis, Vitalis
A1  - Briggs, Andrew
A1  - Brightling, Christopher E.
A1  - Brozek, Jan
A1  - Brusselle, Guy
A1  - Brussino, Luisa
A1  - Buhl, Roland
A1  - Buonaiuto, Roland
A1  - Calderon, Moises A.
A1  - Camargos, Paulo
A1  - Camuzat, Thierry
A1  - Caraballo, Luis
A1  - Carriazo, Ana‐Maria
A1  - Carr, Warner
A1  - Cartier, Christine
A1  - Casale, Thomas
A1  - Cecchi, Lorenzo
A1  - Cepeda Sarabia, Alfonso M.
A1  - H. Chavannes, Niels
A1  - Chkhartishvili, Ekaterine
A1  - Chu, Derek K.
A1  - Cingi, Cemal
A1  - Correia de Sousa, Jaime
A1  - Costa, David J.
A1  - Courbis, Anne‐Lise
A1  - Custovic, Adnan
A1  - Cvetkosvki, Biljana
A1  - D'Amato, Gennaro
A1  - da Silva, Jane
A1  - Dantas, Carina
A1  - Dokic, Dejan
A1  - Dauvilliers, Yves
A1  - De Feo, Giulia
A1  - De Vries, Govert
A1  - Devillier, Philippe
A1  - Di Capua, Stefania
A1  - Dray, Gerard
A1  - Dubakiene, Ruta
A1  - Durham, Stephen R.
A1  - Dykewicz, Mark
A1  - Ebisawa, Motohiro
A1  - Gaga, Mina
A1  - El‐Gamal, Yehia
A1  - Heffler, Enrico
A1  - Emuzyte, Regina
A1  - Farrell, John
A1  - Fauquert, Jean‐Luc
A1  - Fiocchi, Alessandro
A1  - Fink‐Wagner, Antje
A1  - Fontaine, Jean‐François
A1  - Fuentes Perez, José M.
A1  - Gemicioğlu, Bilun
A1  - Gamkrelidze, Amiran
A1  - Garcia‐Aymerich, Judith
A1  - Gevaert, Philippe
A1  - Gomez, René Maximiliano
A1  - González Diaz, Sandra
A1  - Gotua, Maia
A1  - Guldemond, Nick A.
A1  - Guzmán, Maria‐Antonieta
A1  - Hajjam, Jawad
A1  - Huerta Villalobos, Yunuen R.
A1  - Humbert, Marc
A1  - Iaccarino, Guido
A1  - Ierodiakonou, Despo
A1  - Iinuma, Tomohisa
A1  - Jassem, Ewa
A1  - Joos, Guy
A1  - Jung, Ki‐Suck
A1  - Kaidashev, Igor
A1  - Kalayci, Omer
A1  - Kardas, Przemyslaw
A1  - Keil, Thomas
A1  - Khaitov, Musa
A1  - Khaltaev, Nikolai
A1  - Kleine‐Tebbe, Jorg
A1  - Kouznetsov, Rostislav
A1  - Kowalski, Marek L.
A1  - Kritikos, Vicky
A1  - Kull, Inger
A1  - La Grutta, Stefania
A1  - Leonardini, Lisa
A1  - Ljungberg, Henrik
A1  - Lieberman, Philip
A1  - Lipworth, Brian
A1  - Lodrup Carlsen, Karin C.
A1  - Lopes‐Pereira, Catarina
A1  - Loureiro, Claudia C.
A1  - Louis, Renaud
A1  - Mair, Alpana
A1  - Mahboub, Bassam
A1  - Makris, Michaël
A1  - Malva, Joao
A1  - Manning, Patrick
A1  - Marshall, Gailen D.
A1  - Masjedi, Mohamed R.
A1  - Maspero, Jorge F.
A1  - Carreiro‐Martins, Pedro
A1  - Makela, Mika
A1  - Mathieu‐Dupas, Eve
A1  - Maurer, Marcus
A1  - De Manuel Keenoy, Esteban
A1  - Melo‐Gomes, Elisabete
A1  - Meltzer, Eli O.
A1  - Menditto, Enrica
A1  - Mercier, Jacques
A1  - Micheli, Yann
A1  - Miculinic, Neven
A1  - Mihaltan, Florin
A1  - Milenkovic, Branislava
A1  - Mitsias, Dimitirios I.
A1  - Moda, Giuliana
A1  - Mogica‐Martinez, Maria‐Dolores
A1  - Mohammad, Yousser
A1  - Montefort, Steve
A1  - Monti, Ricardo
A1  - Morais‐Almeida, Mario
A1  - Mösges, Ralph
A1  - Münter, Lars
A1  - Muraro, Antonella
A1  - Murray, Ruth
A1  - Naclerio, Robert
A1  - Napoli, Luigi
A1  - Namazova‐Baranova, Leyla
A1  - Neffen, Hugo
A1  - Nekam, Kristoff
A1  - Neou, Angelo
A1  - Nordlund, Björn
A1  - Novellino, Ettore
A1  - Nyembue, Dieudonné
A1  - O'Hehir, Robyn
A1  - Ohta, Ken
A1  - Okubo, Kimi
A1  - Onorato, Gabrielle L.
A1  - Orlando, Valentina
A1  - Ouedraogo, Solange
A1  - Palamarchuk, Julia
A1  - Pali‐Schöll, Isabella
A1  - Panzner, Peter
A1  - Park, Hae‐Sim
A1  - Passalacqua, Gianni
A1  - Pépin, Jean‐Louis
A1  - Paulino, Ema
A1  - Pawankar, Ruby
A1  - Phillips, Jim
A1  - Picard, Robert
A1  - Pinnock, Hilary
A1  - Plavec, Davor
A1  - Popov, Todor A.
A1  - Portejoie, Fabienne
A1  - Price, David
A1  - Prokopakis, Emmanuel P.
A1  - Psarros, Fotis
A1  - Pugin, Benoit
A1  - Puggioni, Francesca
A1  - Quinones‐Delgado, Pablo
A1  - Raciborski, Filip
A1  - Rajabian‐Söderlund, Rojin
A1  - Regateiro, Frederico S.
A1  - Reitsma, Sietze
A1  - Rivero‐Yeverino, Daniela
A1  - Roberts, Graham
A1  - Roche, Nicolas
A1  - Rodriguez‐Zagal, Erendira
A1  - Rolland, Christine
A1  - Roller‐Wirnsberger, Regina E.
A1  - Rosario, Nelson
A1  - Romano, Antonino
A1  - Rottem, Menachem
A1  - Ryan, Dermot
A1  - Salimäki, Johanna
A1  - Sanchez‐Borges, Mario M.
A1  - Sastre, Joaquin
A1  - Scadding, Glenis K.
A1  - Scheire, Sophie
A1  - Schmid‐Grendelmeier, Peter
A1  - Schünemann, Holger J.
A1  - Sarquis Serpa, Faradiba
A1  - Shamji, Mohamed
A1  - Sisul, Juan‐Carlos
A1  - Sofiev, Mikhail
A1  - Solé, Dirceu
A1  - Somekh, David
A1  - Sooronbaev, Talant
A1  - Sova, Milan
A1  - Spertini, François
A1  - Spranger, Otto
A1  - Stellato, Cristiana
A1  - Stelmach, Rafael
A1  - Thibaudon, Michel
A1  - To, Teresa
A1  - Toumi, Mondher
A1  - Usmani, Omar
A1  - Valero, Antonio A.
A1  - Valenta, Rudolph
A1  - Valentin‐Rostan, Marylin
A1  - Pereira, Marilyn Urrutia
A1  - van der Kleij, Rianne
A1  - Van Eerd, Michiel
A1  - Vandenplas, Olivier
A1  - Vasankari, Tuula
A1  - Vaz Carneiro, Antonio
A1  - Vezzani, Giorgio
A1  - Viart, Frédéric
A1  - Viegi, Giovanni
A1  - Wallace, Dana
A1  - Wagenmann, Martin
A1  - Wang, De Yun
A1  - Waserman, Susan
A1  - Wickman, Magnus
A1  - Williams, Dennis M.
A1  - Wong, Gary
A1  - Wroczynski, Piotr
A1  - Yiallouros, Panayiotis K.
A1  - Yusuf, Osman M.
A1  - Zar, Heather J.
A1  - Zeng, Stéphane
A1  - Zernotti, Mario E.
A1  - Zhang, Luo
A1  - Shan Zhong, Nan
A1  - Zidarn, Mihaela
T1  - ARIA digital anamorphosis: Digital transformation of health and care in airway diseases from research to practice
JF  - Allergy
N2  - Digital anamorphosis is used to define a distorted image of health and care that may be viewed correctly using digital tools and strategies. MASK digital anamorphosis represents the process used by MASK to develop the digital transformation of health and care in rhinitis. It strengthens the ARIA change management strategy in the prevention and management of airway disease. The MASK strategy is based on validated digital tools. Using the MASK digital tool and the CARAT online enhanced clinical framework, solutions for practical steps of digital enhancement of care are proposed.
KW  - ARIA
KW  - asthma
KW  - CARAT
KW  - digital transformation of health and care
KW  - MASK
KW  - rhinitis
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-228339
VL  - 76
IS  - 1
SP  - 168
EP  - 190
ER  - 
TY  - JOUR
A1  - Dornelas, Maria
A1  - Antão, Laura H.
A1  - Moyes, Faye
A1  - Bates, Amanda E.
A1  - Magurran, Anne E.
A1  - Adam, Dušan
A1  - Akhmetzhanova, Asem A.
A1  - Appeltans, Ward
A1  - Arcos, José Manuel
A1  - Arnold, Haley
A1  - Ayyappan, Narayanan
A1  - Badihi, Gal
A1  - Baird, Andrew H.
A1  - Barbosa, Miguel
A1  - Barreto, Tiago Egydio
A1  - Bässler, Claus
A1  - Bellgrove, Alecia
A1  - Belmaker, Jonathan
A1  - Benedetti-Cecchi, Lisandro
A1  - Bett, Brian J.
A1  - Bjorkman, Anne D.
A1  - Błażewicz, Magdalena
A1  - Blowes, Shane A.
A1  - Bloch, Christopher P. Bloch
A1  - Bonebrake, Timothy C.
A1  - Boyd, Susan
A1  - Bradford, Matt
A1  - Brooks, Andrew J.
A1  - Brown, James H.
A1  - Bruelheide, Helge
A1  - Budy, Phaedra
A1  - Carvalho, Fernando
A1  - Castañeda-Moya, Edward
A1  - Chen, Chaolun Allen
A1  - Chamblee, John F.
A1  - Chase, Tory J.
A1  - Siegwart Collier, Laura
A1  - Collinge, Sharon K.
A1  - Condit, Richard
A1  - Cooper, Elisabeth J.
A1  - Cornelissen, J. Hans C.
A1  - Cotano, Unai
A1  - Crow, Shannan Kyle
A1  - Damasceno, Gabriella
A1  - Davies, Claire H.
A1  - Davis, Robert A.
A1  - Day, Frank P.
A1  - Degraer, Steven
A1  - Doherty, Tim S.
A1  - Dunn, Timothy E.
A1  - Durigan, Giselda
A1  - Duffy, J. Emmett
A1  - Edelist, Dor
A1  - Edgar, Graham J.
A1  - Elahi, Robin
A1  - Elmendorf, Sarah C.
A1  - Enemar, Anders
A1  - Ernest, S. K. Morgan
A1  - Escribano, Rubén
A1  - Estiarte, Marc
A1  - Evans, Brian S.
A1  - Fan, Tung-Yung
A1  - Turini Farah, Fabiano
A1  - Loureiro Fernandes, Luiz
A1  - Farneda, Fábio Z.
A1  - Fidelis, Alessandra
A1  - Fitt, Robert
A1  - Fosaa, Anna Maria
A1  - Franco, Geraldo Antonio Daher Correa
A1  - Frank, Grace E.
A1  - Fraser, William R.
A1  - García, Hernando
A1  - Cazzolla Gatti, Roberto
A1  - Givan, Or
A1  - Gorgone-Barbosa, Elizabeth
A1  - Gould, William A.
A1  - Gries, Corinna
A1  - Grossman, Gary D.
A1  - Gutierréz, Julio R.
A1  - Hale, Stephen
A1  - Harmon, Mark E.
A1  - Harte, John
A1  - Haskins, Gary
A1  - Henshaw, Donald L.
A1  - Hermanutz, Luise
A1  - Hidalgo, Pamela
A1  - Higuchi, Pedro
A1  - Hoey, Andrew
A1  - Van Hoey, Gert
A1  - Hofgaard, Annika
A1  - Holeck, Kristen
A1  - Hollister, Robert D.
A1  - Holmes, Richard
A1  - Hoogenboom, Mia
A1  - Hsieh, Chih-hao
A1  - Hubbell, Stephen P.
A1  - Huettmann, Falk
A1  - Huffard, Christine L.
A1  - Hurlbert, Allen H.
A1  - Ivanauskas, Natália Macedo
A1  - Janík, David
A1  - Jandt, Ute
A1  - Jażdżewska, Anna
A1  - Johannessen, Tore
A1  - Johnstone, Jill
A1  - Jones, Julia
A1  - Jones, Faith A. M.
A1  - Kang, Jungwon
A1  - Kartawijaya, Tasrif
A1  - Keeley, Erin C.
A1  - Kelt, Douglas A.
A1  - Kinnear, Rebecca
A1  - Klanderud, Kari
A1  - Knutsen, Halvor
A1  - Koenig, Christopher C.
A1  - Kortz, Alessandra R.
A1  - Král, Kamil
A1  - Kuhnz, Linda A.
A1  - Kuo, Chao-Yang
A1  - Kushner, David J.
A1  - Laguionie-Marchais, Claire
A1  - Lancaster, Lesley T.
A1  - Lee, Cheol Min
A1  - Lefcheck, Jonathan S.
A1  - Lévesque, Esther
A1  - Lightfoot, David
A1  - Lloret, Francisco
A1  - Lloyd, John D.
A1  - López-Baucells, Adrià
A1  - Louzao, Maite
A1  - Madin, Joshua S.
A1  - Magnússon, Borgþór
A1  - Malamud, Shahar
A1  - Matthews, Iain
A1  - McFarland, Kent P.
A1  - McGill, Brian
A1  - McKnight, Diane
A1  - McLarney, William O.
A1  - Meador, Jason
A1  - Meserve, Peter L.
A1  - Metcalfe, Daniel J.
A1  - Meyer, Christoph F. J.
A1  - Michelsen, Anders
A1  - Milchakova, Nataliya
A1  - Moens, Tom
A1  - Moland, Even
A1  - Moore, Jon
A1  - Moreira, Carolina Mathias
A1  - Müller, Jörg
A1  - Murphy, Grace
A1  - Myers-Smith, Isla H.
A1  - Myster, Randall W.
A1  - Naumov, Andrew
A1  - Neat, Francis
A1  - Nelson, James A.
A1  - Nelson, Michael Paul
A1  - Newton, Stephen F.
A1  - Norden, Natalia
A1  - Oliver, Jeffrey C.
A1  - Olsen, Esben M.
A1  - Onipchenko, Vladimir G.
A1  - Pabis, Krzysztof
A1  - Pabst, Robert J.
A1  - Paquette, Alain
A1  - Pardede, Sinta
A1  - Paterson, David M.
A1  - Pélissier, Raphaël
A1  - Peñuelas, Josep
A1  - Pérez-Matus, Alejandro
A1  - Pizarro, Oscar
A1  - Pomati, Francesco
A1  - Post, Eric
A1  - Prins, Herbert H. T.
A1  - Priscu, John C.
A1  - Provoost, Pieter
A1  - Prudic, Kathleen L.
A1  - Pulliainen, Erkki
A1  - Ramesh, B. R.
A1  - Ramos, Olivia Mendivil
A1  - Rassweiler, Andrew
A1  - Rebelo, Jose Eduardo
A1  - Reed, Daniel C.
A1  - Reich, Peter B.
A1  - Remillard, Suzanne M.
A1  - Richardson, Anthony J.
A1  - Richardson, J. Paul
A1  - van Rijn, Itai
A1  - Rocha, Ricardo
A1  - Rivera-Monroy, Victor H.
A1  - Rixen, Christian
A1  - Robinson, Kevin P.
A1  - Rodrigues, Ricardo Ribeiro
A1  - de Cerqueira Rossa-Feres, Denise
A1  - Rudstam, Lars
A1  - Ruhl, Henry
A1  - Ruz, Catalina S.
A1  - Sampaio, Erica M.
A1  - Rybicki, Nancy
A1  - Rypel, Andrew
A1  - Sal, Sofia
A1  - Salgado, Beatriz
A1  - Santos, Flavio A. M.
A1  - Savassi-Coutinho, Ana Paula
A1  - Scanga, Sara
A1  - Schmidt, Jochen
A1  - Schooley, Robert
A1  - Setiawan, Fakhrizal
A1  - Shao, Kwang-Tsao
A1  - Shaver, Gaius R.
A1  - Sherman, Sally
A1  - Sherry, Thomas W.
A1  - Siciński, Jacek
A1  - Sievers, Caya
A1  - da Silva, Ana Carolina
A1  - da Silva, Fernando Rodrigues
A1  - Silveira, Fabio L.
A1  - Slingsby, Jasper
A1  - Smart, Tracey
A1  - Snell, Sara J.
A1  - Soudzilovskaia, Nadejda A.
A1  - Souza, Gabriel B. G.
A1  - Souza, Flaviana Maluf
A1  - Souza, Vinícius Castro
A1  - Stallings, Christopher D.
A1  - Stanforth, Rowan
A1  - Stanley, Emily H.
A1  - Sterza, José Mauro
A1  - Stevens, Maarten
A1  - Stuart-Smith, Rick
A1  - Suarez, Yzel Rondon
A1  - Supp, Sarah
A1  - Tamashiro, Jorge Yoshio
A1  - Tarigan, Sukmaraharja
A1  - Thiede, Gary P.
A1  - Thorn, Simon
A1  - Tolvanen, Anne
A1  - Toniato, Maria Teresa Zugliani
A1  - Totland, Ørjan
A1  - Twilley, Robert R.
A1  - Vaitkus, Gediminas
A1  - Valdivia, Nelson
A1  - Vallejo, Martha Isabel
A1  - Valone, Thomas J.
A1  - Van Colen, Carl
A1  - Vanaverbeke, Jan
A1  - Venturoli, Fabio
A1  - Verheye, Hans M.
A1  - Vianna, Marcelo
A1  - Vieira, Rui P.
A1  - Vrška, Tomáš
A1  - Vu, Con Quang
A1  - Vu, Lien Van
A1  - Waide, Robert B.
A1  - Waldock, Conor
A1  - Watts, Dave
A1  - Webb, Sara
A1  - Wesołowski, Tomasz
A1  - White, Ethan P.
A1  - Widdicombe, Claire E.
A1  - Wilgers, Dustin
A1  - Williams, Richard
A1  - Williams, Stefan B.
A1  - Williamson, Mark
A1  - Willig, Michael R.
A1  - Willis, Trevor J.
A1  - Wipf, Sonja
A1  - Woods, Kerry D.
A1  - Woehler, Eric J.
A1  - Zawada, Kyle
A1  - Zettler, Michael L.
T1  - BioTIME: A database of biodiversity time series for the Anthropocene
JF  - Global Ecology and Biogeography
N2  - Motivation
The BioTIME database contains raw data on species identities and abundances in ecological assemblages through time. These data enable users to calculate temporal trends in biodiversity within and amongst assemblages using a broad range of metrics. BioTIME is being developed as a community-led open-source database of biodiversity time series. Our goal is to accelerate and facilitate quantitative analysis of temporal patterns of biodiversity in the Anthropocene.

Main types of variables included
The database contains 8,777,413 species abundance records, from assemblages consistently sampled for a minimum of 2 years, which need not necessarily be consecutive. In addition, the database contains metadata relating to sampling methodology and contextual information about each record.

Spatial location and grain
BioTIME is a global database of 547,161 unique sampling locations spanning the marine, freshwater and terrestrial realms. Grain size varies across datasets from 0.0000000158 km2 (158 cm2) to 100 km2 (1,000,000,000,000 cm2).

Time period and grain
BioTIME records span from 1874 to 2016. The minimal temporal grain across all datasets in BioTIME is a year.

Major taxa and level of measurement
BioTIME includes data from 44,440 species across the plant and animal kingdoms, ranging from plants, plankton and terrestrial invertebrates to small and large vertebrates.

Software format
.csv and .SQL.
KW  - biodiversity
KW  - global
KW  - spatial
KW  - species richness
KW  - temporal
KW  - turnover
Y1  - 2018
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-222846
VL  - 27
ER  - 
TY  - JOUR
A1  - Manchia, Mirko
A1  - Adli, Mazda
A1  - Akula, Nirmala
A1  - Arda, Raffaella
A1  - Aubry, Jean-Michel
A1  - Backlund, Lena
A1  - Banzato, Claudio E. M.
A1  - Baune, Bernhard T.
A1  - Bellivier, Frank
A1  - Bengesser, Susanne
A1  - Biernacka, Joanna M.
A1  - Brichant-Petitjean, Clara
A1  - Bui, Elise
A1  - Calkin, Cynthia V.
A1  - Cheng, Andrew Tai Ann
A1  - Chillotti, Caterina
A1  - Cichon, Sven
A1  - Clark, Scott
A1  - Czerski, Piotr M.
A1  - Dantas, Clarissa
A1  - Del Zompo, Maria
A1  - DePaulo, J. Raymond
A1  - Detera-Wadleigh, Sevilla D.
A1  - Etain, Bruno
A1  - Falkai, Peter
A1  - Frisén, Louise
A1  - Frye, Mark A.
A1  - Fullerton, Jan
A1  - Gard, Sébastien
A1  - Garnham, Julie
A1  - Goes, Fernando S.
A1  - Grof, Paul
A1  - Gruber, Oliver
A1  - Hashimoto, Ryota
A1  - Hauser, Joanna
A1  - Heilbronner, Urs
A1  - Hoban, Rebecca
A1  - Hou, Liping
A1  - Jamain, Stéphane
A1  - Kahn, Jean-Pierre
A1  - Kassem, Layla
A1  - Kato, Tadafumi
A1  - Kelsoe, John R.
A1  - Kittel-Schneider, Sarah
A1  - Kliwicki, Sebastian
A1  - Kuo, Po-Hsiu
A1  - Kusumi, Ichiro
A1  - Laje, Gonzalo
A1  - Lavebratt, Catharina
A1  - Leboyer, Marion
A1  - Leckband, Susan G.
A1  - López Jaramillo, Carlos A.
A1  - Maj, Mario
A1  - Malafosse, Alain
A1  - Martinsson, Lina
A1  - Masui, Takuya
A1  - Mitchell, Philip B.
A1  - Mondimore, Frank
A1  - Monteleone, Palmiero
A1  - Nallet, Audrey
A1  - Neuner, Maria
A1  - Novák, Tomás
A1  - O'Donovan, Claire
A1  - Ösby, Urban
A1  - Ozaki, Norio
A1  - Perlis, Roy H.
A1  - Pfennig, Andrea
A1  - Potash, James B.
A1  - Reich-Erkelenz, Daniela
A1  - Reif, Andreas
A1  - Reininghaus, Eva
A1  - Richardson, Sara
A1  - Rouleau, Guy A.
A1  - Rybakowski, Janusz K.
A1  - Schalling, Martin
A1  - Schofield, Peter R.
A1  - Schubert, Oliver K.
A1  - Schweizer, Barbara
A1  - Seemüller, Florian
A1  - Grigoroiu-Serbanescu, Maria
A1  - Severino, Giovanni
A1  - Seymour, Lisa R.
A1  - Slaney, Claire
A1  - Smoller, Jordan W.
A1  - Squassina, Alessio
A1  - Stamm, Thomas
A1  - Steele, Jo
A1  - Stopkova, Pavla
A1  - Tighe, Sarah K.
A1  - Tortorella, Alfonso
A1  - Turecki, Gustavo
A1  - Wray, Naomi R.
A1  - Wright, Adam
A1  - Zandi, Peter P.
A1  - Zilles, David
A1  - Bauer, Michael
A1  - Rietschel, Marcella
A1  - McMahon, Francis J.
A1  - Schulze, Thomas G.
A1  - Alda, Martin
T1  - Assessment of Response to Lithium Maintenance Treatment in Bipolar Disorder: A Consortium on Lithium Genetics (ConLiGen) Report
JF  - PLoS ONE
N2  - Objective: The assessment of response to lithium maintenance treatment in bipolar disorder (BD) is complicated by variable length of treatment, unpredictable clinical course, and often inconsistent compliance. Prospective and retrospective methods of assessment of lithium response have been proposed in the literature. In this study we report the key phenotypic measures of the "Retrospective Criteria of Long-Term Treatment Response in Research Subjects with Bipolar Disorder" scale currently used in the Consortium on Lithium Genetics (ConLiGen) study. 
Materials and Methods: Twenty-nine ConLiGen sites took part in a two-stage case-vignette rating procedure to examine inter-rater agreement [Kappa (\(\kappa\))] and reliability [intra-class correlation coefficient (ICC)] of lithium response. Annotated first-round vignettes and rating guidelines were circulated to expert research clinicians for training purposes between the two stages. Further, we analyzed the distributional properties of the treatment response scores available for 1,308 patients using mixture modeling. 
Results: Substantial and moderate agreement was shown across sites in the first and second sets of vignettes (\(\kappa\) = 0.66 and \(\kappa\) = 0.54, respectively), without significant improvement from training. However, definition of response using the A score as a quantitative trait and selecting cases with B criteria of 4 or less showed an improvement between the two stages (\(ICC_1 = 0.71\) and \(ICC_2 = 0.75\), respectively). Mixture modeling of score distribution indicated three subpopulations (full responders, partial responders, non responders). 
Conclusions: We identified two definitions of lithium response, one dichotomous and the other continuous, with moderate to substantial inter-rater agreement and reliability. Accurate phenotypic measurement of lithium response is crucial for the ongoing ConLiGen pharmacogenomic study.
KW  - age
KW  - observer agreement
KW  - prophylactic lithium
KW  - mapping susceptibility genes
KW  - mood disorders
KW  - onset
KW  - association
KW  - reliability
KW  - morality
KW  - illness
Y1  - 2013
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-130938
VL  - 8
IS  - 6
ER  - 
TY  - JOUR
A1  - Galluzzi, L.
A1  - Bravo-San Pedro, J. M.
A1  - Vitale, I.
A1  - Aaronson, S. A.
A1  - Abrams, J. M.
A1  - Adam, D.
A1  - Alnemri, E. S.
A1  - Altucci, L.
A1  - Andrews, D.
A1  - Annicchiarico-Petruzelli, M.
A1  - Baehrecke, E. H.
A1  - Bazan, N. G.
A1  - Bertrand, M. J.
A1  - Bianchi, K.
A1  - Blagosklonny, M. V.
A1  - Blomgren, K.
A1  - Borner, C.
A1  - Bredesen, D. E.
A1  - Brenner, C.
A1  - Campanella, M.
A1  - Candi, E.
A1  - Cecconi, F.
A1  - Chan, F. K.
A1  - Chandel, N. S.
A1  - Cheng, E. H.
A1  - Chipuk, J. E.
A1  - Cidlowski, J. A.
A1  - Ciechanover, A.
A1  - Dawson, T. M.
A1  - Dawson, V. L.
A1  - De Laurenzi, V.
A1  - De Maria, R.
A1  - Debatin, K. M.
A1  - Di Daniele, N.
A1  - Dixit, V. M.
A1  - Dynlacht, B. D.
A1  - El-Deiry, W. S.
A1  - Fimia, G. M.
A1  - Flavell, R. A.
A1  - Fulda, S.
A1  - Garrido, C.
A1  - Gougeon, M. L.
A1  - Green, D. R.
A1  - Gronemeyer, H.
A1  - Hajnoczky, G.
A1  - Hardwick, J. M.
A1  - Hengartner, M. O.
A1  - Ichijo, H.
A1  - Joseph, B.
A1  - Jost, P. J.
A1  - Kaufmann, T.
A1  - Kepp, O.
A1  - Klionsky, D. J.
A1  - Knight, R. A.
A1  - Kumar, S.
A1  - Lemasters, J. J.
A1  - Levine, B.
A1  - Linkermann, A.
A1  - Lipton, S. A.
A1  - Lockshin, R. A.
A1  - López-Otín, C.
A1  - Lugli, E.
A1  - Madeo, F.
A1  - Malorni, W.
A1  - Marine, J. C.
A1  - Martin, S. J.
A1  - Martinou, J. C.
A1  - Medema, J. P.
A1  - Meier, P.
A1  - Melino, S.
A1  - Mizushima, N.
A1  - Moll, U.
A1  - Muñoz-Pinedo, C.
A1  - Nuñez, G.
A1  - Oberst, A.
A1  - Panaretakis, T.
A1  - Penninger, J. M.
A1  - Peter, M. E.
A1  - Piacentini, M.
A1  - Pinton, P.
A1  - Prehn, J. H.
A1  - Puthalakath, H.
A1  - Rabinovich, G. A.
A1  - Ravichandran, K. S.
A1  - Rizzuto, R.
A1  - Rodrigues, C. M.
A1  - Rubinsztein, D. C.
A1  - Rudel, T.
A1  - Shi, Y.
A1  - Simon, H. U.
A1  - Stockwell, B. R.
A1  - Szabadkai, G.
A1  - Tait, S. W.
A1  - Tang, H. L.
A1  - Tavernarakis, N.
A1  - Tsujimoto, Y.
A1  - Vanden Berghe, T.
A1  - Vandenabeele, P.
A1  - Villunger, A.
A1  - Wagner, E. F.
A1  - Walczak, H.
A1  - White, E.
A1  - Wood, W. G.
A1  - Yuan, J.
A1  - Zakeri, Z.
A1  - Zhivotovsky, B.
A1  - Melino, G.
A1  - Kroemer, G.
T1  - Essential versus accessory aspects of cell death: recommendations of the NCCD 2015
JF  - Cell Death and Differentiation
N2  - Cells exposed to extreme physicochemical or mechanical stimuli die in an uncontrollable manner, as a result of their immediate structural breakdown. Such an unavoidable variant of cellular demise is generally referred to as 'accidental cell death' (ACD). In most settings, however, cell death is initiated by a genetically encoded apparatus, correlating with the fact that its course can be altered by pharmacologic or genetic interventions. 'Regulated cell death' (RCD) can occur as part of physiologic programs or can be activated once adaptive responses to perturbations of the extracellular or intracellular microenvironment fail. The biochemical phenomena that accompany RCD may be harnessed to classify it into a few subtypes, which often (but not always) exhibit stereotyped morphologic features. Nonetheless, efficiently inhibiting the processes that are commonly thought to cause RCD, such as the activation of executioner caspases in the course of apoptosis, does not exert true cytoprotective effects in the mammalian system, but simply alters the kinetics of cellular demise as it shifts its morphologic and biochemical correlates. Conversely, bona fide cytoprotection can be achieved by inhibiting the transduction of lethal signals in the early phases of the process, when adaptive responses are still operational. Thus, the mechanisms that truly execute RCD may be less understood, less inhibitable and perhaps more homogeneous than previously thought. Here, the Nomenclature Committee on Cell Death formulates a set of recommendations to help scientists and researchers to discriminate between essential and accessory aspects of cell death.
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-121207
VL  - 22
ER  - 
TY  - JOUR
A1  - Vigorito, Elena
A1  - Kuchenbaecker, Karoline B.
A1  - Beesley, Jonathan
A1  - Adlard, Julian
A1  - Agnarsson, Bjarni A.
A1  - Andrulis, Irene L.
A1  - Arun, Banu K.
A1  - Barjhoux, Laure
A1  - Belotti, Muriel
A1  - Benitez, Javier
A1  - Berger, Andreas
A1  - Bojesen, Anders
A1  - Bonanni, Bernardo
A1  - Brewer, Carole
A1  - Caldes, Trinidad
A1  - Caligo, Maria A.
A1  - Campbell, Ian
A1  - Chan, Salina B.
A1  - Claes, Kathleen B. M.
A1  - Cohn, David E.
A1  - Cook, Jackie
A1  - Daly, Mary B.
A1  - Damiola, Francesca
A1  - Davidson, Rosemarie
A1  - de Pauw, Antoine
A1  - Delnatte, Capucine
A1  - Diez, Orland
A1  - Domchek, Susan M.
A1  - Dumont, Martine
A1  - Durda, Katarzyna
A1  - Dworniczak, Bernd
A1  - Easton, Douglas F.
A1  - Eccles, Diana
A1  - Ardnor, Christina Edwinsdotter
A1  - Eeles, Ros
A1  - Ejlertsen, Bent
A1  - Ellis, Steve
A1  - Evans, D. Gareth
A1  - Feliubadalo, Lidia
A1  - Fostira, Florentia
A1  - Foulkes, William D.
A1  - Friedman, Eitan
A1  - Frost, Debra
A1  - Gaddam, Pragna
A1  - Ganz, Patricia A.
A1  - Garber, Judy
A1  - Garcia-Barberan, Vanesa
A1  - Gauthier-Villars, Marion
A1  - Gehrig, Andrea
A1  - Gerdes, Anne-Marie
A1  - Giraud, Sophie
A1  - Godwin, Andrew K.
A1  - Goldgar, David E.
A1  - Hake, Christopher R.
A1  - Hansen, Thomas V. O.
A1  - Healey, Sue
A1  - Hodgson, Shirley
A1  - Hogervorst, Frans B. L.
A1  - Houdayer, Claude
A1  - Hulick, Peter J.
A1  - Imyanitov, Evgeny N.
A1  - Isaacs, Claudine
A1  - Izatt, Louise
A1  - Izquierdo, Angel
A1  - Jacobs, Lauren
A1  - Jakubowska, Anna
A1  - Janavicius, Ramunas
A1  - Jaworska-Bieniek, Katarzyna
A1  - Jensen, Uffe Birk
A1  - John, Esther M.
A1  - Vijai, Joseph
A1  - Karlan, Beth Y.
A1  - Kast, Karin
A1  - Khan, Sofia
A1  - Kwong, Ava
A1  - Laitman, Yael
A1  - Lester, Jenny
A1  - Lesueur, Fabienne
A1  - Liljegren, Annelie
A1  - Lubinski, Jan
A1  - Mai, Phuong L.
A1  - Manoukian, Siranoush
A1  - Mazoyer, Sylvie
A1  - Meindl, Alfons
A1  - Mensenkamp, Arjen R.
A1  - Montagna, Marco
A1  - Nathanson, Katherine L.
A1  - Neuhausen, Susan L.
A1  - Nevanlinna, Heli
A1  - Niederacher, Dieter
A1  - Olah, Edith
A1  - Olopade, Olufunmilayo I.
A1  - Ong, Kai-ren
A1  - Osorio, Ana
A1  - Park, Sue Kyung
A1  - Paulsson-Karlsson, Ylva
A1  - Pedersen, Inge Sokilde
A1  - Peissel, Bernard
A1  - Peterlongo, Paolo
A1  - Pfeiler, Georg
A1  - Phelan, Catherine M.
A1  - Piedmonte, Marion
A1  - Poppe, Bruce
A1  - Pujana, Miquel Angel
A1  - Radice, Paolo
A1  - Rennert, Gad
A1  - Rodriguez, Gustavo C.
A1  - Rookus, Matti A.
A1  - Ross, Eric A.
A1  - Schmutzler, Rita Katharina
A1  - Simard, Jacques
A1  - Singer, Christian F.
A1  - Slavin, Thomas P.
A1  - Soucy, Penny
A1  - Southey, Melissa
A1  - Steinemann, Doris
A1  - Stoppa-Lyonnet, Dominique
A1  - Sukiennicki, Grzegorz
A1  - Sutter, Christian
A1  - Szabo, Csilla I.
A1  - Tea, Muy-Kheng
A1  - Teixeira, Manuel R.
A1  - Teo, Soo-Hwang
A1  - Terry, Mary Beth
A1  - Thomassen, Mads
A1  - Tibiletti, Maria Grazia
A1  - Tihomirova, Laima
A1  - Tognazzo, Silvia
A1  - van Rensburg, Elizabeth J.
A1  - Varesco, Liliana
A1  - Varon-Mateeva, Raymonda
A1  - Vratimos, Athanassios
A1  - Weitzel, Jeffrey N.
A1  - McGuffog, Lesley
A1  - Kirk, Judy
A1  - Toland, Amanda Ewart
A1  - Hamann, Ute
A1  - Lindor, Noralane
A1  - Ramus, Susan J.
A1  - Greene, Mark H.
A1  - Couch, Fergus J.
A1  - Offit, Kenneth
A1  - Pharoah, Paul D. P.
A1  - Chenevix-Trench, Georgia
A1  - Antoniou, Antonis C.
T1  - Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
JF  - PLoS ONE
N2  - Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10−16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10−6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.
KW  - fine-scale mapping
KW  - ovarian cancer
KW  - genetics
KW  - BRCA1
KW  - BRCA2
Y1  - 2016
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-166869
VL  - 11
IS  - 7
ER  - 
TY  - JOUR
A1  - Osorio, Ana
A1  - Milne, Roger L.
A1  - Kuchenbaecker, Karoline
A1  - Vaclová, Tereza
A1  - Pita, Guillermo
A1  - Alonso, Rosario
A1  - Peterlongo, Paolo
A1  - Blanco, Ignacio
A1  - de la Hoya, Miguel
A1  - Duran, Mercedes
A1  - Diez, Orland
A1  - Ramón y Cajal, Teresa
A1  - Konstantopoulou, Irene
A1  - Martínez-Bouzas, Christina
A1  - Conejero, Raquel Andrés
A1  - Soucy, Penny
A1  - McGuffog, Lesley
A1  - Barrowdale, Daniel
A1  - Lee, Andrew
A1  - Arver, Brita
A1  - Rantala, Johanna
A1  - Loman, Niklas
A1  - Ehrencrona, Hans
A1  - Olopade, Olufunmilayo I.
A1  - Beattie, Mary S.
A1  - Domchek, Susan M.
A1  - Nathanson, Katherine
A1  - Rebbeck, Timothy R.
A1  - Arun, Banu K.
A1  - Karlan, Beth Y.
A1  - Walsh, Christine
A1  - Lester, Jenny
A1  - John, Esther M.
A1  - Whittemore, Alice S.
A1  - Daly, Mary B.
A1  - Southey, Melissa
A1  - Hopper, John
A1  - Terry, Mary B.
A1  - Buys, Saundra S.
A1  - Janavicius, Ramunas
A1  - Dorfling, Cecilia M.
A1  - van Rensburg, Elizabeth J.
A1  - Steele, Linda
A1  - Neuhausen, Susan L.
A1  - Ding, Yuan Chun
A1  - Hansen, Thomas V. O.
A1  - Jønson, Lars
A1  - Ejlertsen, Bent
A1  - Gerdes, Anne-Marie
A1  - Infante, Mar
A1  - Herráez, Belén
A1  - Moreno, Leticia Thais
A1  - Weitzel, Jeffrey N.
A1  - Herzog, Josef
A1  - Weeman, Kisa
A1  - Manoukian, Siranoush
A1  - Peissel, Bernard
A1  - Zaffaroni, Daniela
A1  - Scuvera, Guilietta
A1  - Bonanni, Bernardo
A1  - Mariette, Frederique
A1  - Volorio, Sara
A1  - Viel, Alessandra
A1  - Varesco, Liliana
A1  - Papi, Laura
A1  - Ottini, Laura
A1  - Tibiletti, Maria Grazia
A1  - Radice, Paolo
A1  - Yannoukakos, Drakoulis
A1  - Garber, Judy
A1  - Ellis, Steve
A1  - Frost, Debra
A1  - Platte, Radka
A1  - Fineberg, Elena
A1  - Evans, Gareth
A1  - Lalloo, Fiona
A1  - Izatt, Louise
A1  - Eeles, Ros
A1  - Adlard, Julian
A1  - Davidson, Rosemarie
A1  - Cole, Trevor
A1  - Eccles, Diana
A1  - Cook, Jackie
A1  - Hodgson, Shirley
A1  - Brewer, Carole
A1  - Tischkowitz, Marc
A1  - Douglas, Fiona
A1  - Porteous, Mary
A1  - Side, Lucy
A1  - Walker, Lisa
A1  - Morrison, Patrick
A1  - Donaldson, Alan
A1  - Kennedy, John
A1  - Foo, Claire
A1  - Godwin, Andrew K.
A1  - Schmutzler, Rita Katharina
A1  - Wappenschmidt, Barbara
A1  - Rhiem, Kerstin
A1  - Engel, Christoph
A1  - Meindl, Alftons
A1  - Ditsch, Nina
A1  - Arnold, Norbert
A1  - Plendl, Hans Jörg
A1  - Niederacher, Dieter
A1  - Sutter, Christian
A1  - Wang-Gohrke, Shan
A1  - Steinemann, Doris
A1  - Preisler-Adams, Sabine
A1  - Kast, Karin
A1  - Varon-Mateeva, Raymonda
A1  - Gehrig, Andrea
A1  - Stoppa-Lyonnet, Dominique
A1  - Sinilnikova, Olga M.
A1  - Mazoyer, Sylvie
A1  - Damiola, Francesca
A1  - Poppe, Bruce
A1  - Claes, Kathleen
A1  - Piedmonte, Marion
A1  - Tucker, Kathy
A1  - Backes, Floor
A1  - Rodríguez, Gustavo
A1  - Brewster, Wendy
A1  - Wakeley, Katie
A1  - Rutherford, Thomas
A1  - Caldés, Trinidad
A1  - Nevanlinna, Heli
A1  - Aittomäki, Kristiina
A1  - Rookus, Matti A.
A1  - van Os, Theo A. M.
A1  - van der Kolk, Lizet
A1  - de Lange, J. L.
A1  - Meijers-Heijboer, Hanne E. J.
A1  - van der Hout, A. H.
A1  - van Asperen, Christi J.
A1  - Goméz Garcia, Encarna B.
A1  - Encarna, B.
A1  - Hoogerbrugge, Nicoline
A1  - Collée, J. Margriet
A1  - van Deurzen, Carolien H. M.
A1  - van der Luijt, Rob B.
A1  - Devilee, Peter
A1  - Olah, Edith
A1  - Lázaro, Conxi
A1  - Teulé, Alex
A1  - Menéndez, Mireia
A1  - Jakubowska, Anna
A1  - Cybulski, Cezary
A1  - Gronwald, Jecek
A1  - Lubinski, Jan
A1  - Durda, Katarzyna
A1  - Jaworska-Bieniek, Katarzyna
A1  - Johannsson, Oskar Th.
A1  - Maugard, Christine
A1  - Montagna, Marco
A1  - Tognazzo, Silvia
A1  - Teixeira, Manuel R.
A1  - Healey, Sue
A1  - Olswold, Curtis
A1  - Guidugli, Lucia
A1  - Lindor, Noralane
A1  - Slager, Susan
A1  - Szabo, Csilla I.
A1  - Vijai, Joseph
A1  - Robson, Mark
A1  - Kauff, Noah
A1  - Zhang, Liying
A1  - Rau-Murthy, Rohini
A1  - Fink-Retter, Anneliese
A1  - Singer, Christine F.
A1  - Rappaport, Christine
A1  - Kaulich, Daphne Geschwantler
A1  - Pfeiler, Georg
A1  - Tea, Muy-Kheng
A1  - Berger, Andreas
A1  - Phelan, Catherine M.
A1  - Greene, Mark H.
A1  - Mai, Phuong L.
A1  - Lejbkowicz, Flavio
A1  - Andrulis, Irene
A1  - Mulligan, Anna Marie
A1  - Glendon, Gord
A1  - Toland, Amanda Ewart
A1  - Bojesen, Anders
A1  - Pedersen, Inge Sokilde
A1  - Sunde, Lone
A1  - Thomassen, Mads
A1  - Kruse, Torben A.
A1  - Jensen, Uffe Birk
A1  - Friedman, Eitan
A1  - Laitman, Yeal
A1  - Shimon, Shanie Paluch
A1  - Simard, Jaques
A1  - Easton, Douglas F.
A1  - Offit, Kenneth
A1  - Couch, Fergus J.
A1  - Chenevix-Trench, Georgia
A1  - Antoniou, Antonis C.
A1  - Benitez, Javier
T1  - DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
JF  - PLOS Genetics
N2  - Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7x10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95% CI: 1.03-1.21, p = 4.8x10(-3)). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.
KW  - single-nucleotide polymorphisms
KW  - breast cancer
KW  - ovarian cancer
KW  - genetic modifiers
KW  - common variants
KW  - NEIL2
KW  - OGG1
KW  - investigators
KW  - consortium
KW  - damage
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-116820
SN  - 1553-7404
VL  - 4
IS  - e1004256
ER  - 
TY  - JOUR
A1  - Blein, Sophie
A1  - Bardel, Claire
A1  - Danjean, Vincent
A1  - McGuffog, Lesley
A1  - Healay, Sue
A1  - Barrowdale, Daniel
A1  - Lee, Andrew
A1  - Dennis, Joe
A1  - Kuchenbaecker, Karoline B.
A1  - Soucy, Penny
A1  - Terry, Mary Beth
A1  - Chung, Wendy K.
A1  - Goldgar, David E.
A1  - Buys, Saundra S.
A1  - Janavicius, Ramunas
A1  - Tihomirova, Laima
A1  - Tung, Nadine
A1  - Dorfling, Cecilia M.
A1  - van Rensburg, Elizabeth J.
A1  - Neuhausen, Susan L.
A1  - Ding, Yuan Chun
A1  - Gerdes, Anne-Marie
A1  - Ejlertsen, Bent
A1  - Nielsen, Finn C.
A1  - Hansen, Thomas V. O.
A1  - Osorio, Ana
A1  - Benitez, Javier
A1  - Andreas Conejero, Raquel
A1  - Segota, Ena
A1  - Weitzel, Jeffrey N.
A1  - Thelander, Margo
A1  - Peterlongo, Paolo
A1  - Radice, Paolo
A1  - Pensotti, Valeria
A1  - Dolcetti, Riccardo
A1  - Bonanni, Bernardo
A1  - Peissel, Bernard
A1  - Zaffaroni, Daniela
A1  - Scuvera, Giulietta
A1  - Manoukian, Siranoush
A1  - Varesco, Liliana
A1  - Capone, Gabriele L.
A1  - Papi, Laura
A1  - Ottini, Laura
A1  - Yannoukakos, Drakoulis
A1  - Konstantopoulou, Irene
A1  - Garber, Judy
A1  - Hamann, Ute
A1  - Donaldson, Alan
A1  - Brady, Angela
A1  - Brewer, Carole
A1  - Foo, Claire
A1  - Evans, D. Gareth
A1  - Frost, Debra
A1  - Eccles, Diana
A1  - Douglas, Fiona
A1  - Cook, Jackie
A1  - Adlard, Julian
A1  - Barwell, Julian
A1  - Walker, Lisa
A1  - Izatt, Louise
A1  - Side, Lucy E.
A1  - Kennedy, M. John
A1  - Tischkowitz, Marc
A1  - Rogers, Mark T.
A1  - Porteous, Mary E.
A1  - Morrison, Patrick J.
A1  - Platte, Radka
A1  - Eeles, Ros
A1  - Davidson, Rosemarie
A1  - Hodgson, Shirley
A1  - Cole, Trevor
A1  - Godwin, Andrew K
A1  - Isaacs, Claudine
A1  - Claes, Kathleen
A1  - De Leeneer, Kim
A1  - Meindl, Alfons
A1  - Gehrig, Andrea
A1  - Wappenschmidt, Barbara
A1  - Sutter, Christian
A1  - Engel, Christoph
A1  - Niederacher, Dieter
A1  - Steinemann, Doris
A1  - Plendl, Hansjoerg
A1  - Kast, Karin
A1  - Rhiem, Kerstin
A1  - Ditsch, Nina
A1  - Arnold, Norbert
A1  - Varon-Mateeva, Raymonda
A1  - Schmutzler, Rita K.
A1  - Preisler-Adams, Sabine
A1  - Markov, Nadja Bogdanova
A1  - Wang-Gohrke, Shan
A1  - de Pauw, Antoine
A1  - Lefol, Cedrick
A1  - Lasset, Christine
A1  - Leroux, Dominique
A1  - Rouleau, Etienne
A1  - Damiola, Francesca
A1  - Dreyfus, Helene
A1  - Barjhoux, Laure
A1  - Golmard, Lisa
A1  - Uhrhammer, Nancy
A1  - Bonadona, Valerie
A1  - Sornin, Valerie
A1  - Bignon, Yves-Jean
A1  - Carter, Jonathan
A1  - Van Le, Linda
A1  - Piedmonte, Marion
A1  - DiSilvestro, Paul A.
A1  - de la Hoya, Miguel
A1  - Caldes, Trinidad
A1  - Nevanlinna, Heli
A1  - Aittomäki, Kristiina
A1  - Jager, Agnes
A1  - van den Ouweland, Ans M. W.
A1  - Kets, Carolien M.
A1  - Aalfs, Cora M.
A1  - van Leeuwen, Flora E.
A1  - Hogervorst, Frans B. L.
A1  - Meijers-Heijboer, Hanne E. J.
A1  - Oosterwijk, Jan C.
A1  - van Roozendaal, Kees E. P.
A1  - Rookus, Matti A.
A1  - Devilee, Peter
A1  - van der Luijt, Rob B.
A1  - Olah, Edith
A1  - Diez, Orland
A1  - Teule, Alex
A1  - Lazaro, Conxi
A1  - Blanco, Ignacio
A1  - Del Valle, Jesus
A1  - Jakubowska, Anna
A1  - Sukiennicki, Grzegorz
A1  - Gronwald, Jacek
A1  - Spurdle, Amanda B.
A1  - Foulkes, William
A1  - Olswold, Curtis
A1  - Lindor, Noralene M.
A1  - Pankratz, Vernon S.
A1  - Szabo, Csilla I.
A1  - Lincoln, Anne
A1  - Jacobs, Lauren
A1  - Corines, Marina
A1  - Robson, Mark
A1  - Vijai, Joseph
A1  - Berger, Andreas
A1  - Fink-Retter, Anneliese
A1  - Singer, Christian F.
A1  - Rappaport, Christine
A1  - Geschwantler Kaulich, Daphne
A1  - Pfeiler, Georg
A1  - Tea, Muy-Kheng
A1  - Greene, Mark H.
A1  - Mai, Phuong L.
A1  - Rennert, Gad
A1  - Imyanitov, Evgeny N.
A1  - Mulligan, Anna Marie
A1  - Glendon, Gord
A1  - Andrulis, Irene L.
A1  - Tchatchou, Andrine
A1  - Toland, Amanda Ewart
A1  - Pedersen, Inge Sokilde
A1  - Thomassen, Mads
A1  - Kruse, Torben A.
A1  - Jensen, Uffe Birk
A1  - Caligo, Maria A.
A1  - Friedman, Eitan
A1  - Zidan, Jamal
A1  - Laitman, Yael
A1  - Lindblom, Annika
A1  - Melin, Beatrice
A1  - Arver, Brita
A1  - Loman, Niklas
A1  - Rosenquist, Richard
A1  - Olopade, Olufunmilayo I.
A1  - Nussbaum, Robert L.
A1  - Ramus, Susan J.
A1  - Nathanson, Katherine L.
A1  - Domchek, Susan M.
A1  - Rebbeck, Timothy R.
A1  - Arun, Banu K.
A1  - Mitchell, Gillian
A1  - Karlan, Bethy Y.
A1  - Lester, Jenny
A1  - Orsulic, Sandra
A1  - Stoppa-Lyonnet, Dominique
A1  - Thomas, Gilles
A1  - Simard, Jacques
A1  - Couch, Fergus J.
A1  - Offit, Kenenth
A1  - Easton, Douglas F.
A1  - Chenevix-Trench, Georgia
A1  - Antoniou, Antonis C.
A1  - Mazoyer, Sylvie
A1  - Phelan, Catherine M.
A1  - Sinilnikova, Olga M.
A1  - Cox, David G.
T1  - An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
JF  - Breast Cancer Research
N2  - Introduction: 
Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. 

Methods: 
We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. 

Results: 
We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. 

Conclusions:
This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.
KW  - single-nucleotide polymorphisms
KW  - genetic modifiers
KW  - oxidative stress
KW  - consortium
KW  - multiple diseases
KW  - DNA
KW  - haplogroups
KW  - susceptibility
KW  - Ovarian
KW  - variants
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-145458
VL  - 17
IS  - 61
ER  - 
TY  - JOUR
A1  - Couch, Fergus J.
A1  - Wang, Xianshu
A1  - McGuffog, Lesley
A1  - Lee, Andrew
A1  - Olswold, Curtis
A1  - Kuchenbaecker, Karoline B.
A1  - Soucy, Penny
A1  - Fredericksen, Zachary
A1  - Barrowdale, Daniel
A1  - Dennis, Joe
A1  - Gaudet, Mia M.
A1  - Dicks, Ed
A1  - Kosel, Matthew
A1  - Healey, Sue
A1  - Sinilnikova, Olga M.
A1  - Lee, Adam
A1  - Bacot, Françios
A1  - Vincent, Daniel
A1  - Hogervorst, Frans B. L.
A1  - Peock, Susan
A1  - Stoppa-Lyonnet, Dominique
A1  - Jakubowska, Anna
A1  - Radice, Paolo
A1  - Schmutzler, Rita Katharina
A1  - Domchek, Susan M.
A1  - Piedmonte, Marion
A1  - Singer, Christian F.
A1  - Friedman, Eitan
A1  - Thomassen, Mads
A1  - Hansen, Thomas V. O.
A1  - Neuhausen, Susan L.
A1  - Szabo, Csilla I.
A1  - Blanco, Ingnacio
A1  - Greene, Mark H.
A1  - Karlan, Beth Y.
A1  - Garber, Judy
A1  - Phelan, Catherine M.
A1  - Weitzel, Jeffrey N.
A1  - Montagna, Marco
A1  - Olah, Edith
A1  - Andrulis, Irene L.
A1  - Godwin, Andrew K.
A1  - Yannoukakos, Drakoulis
A1  - Goldgar, David E.
A1  - Caldes, Trinidad
A1  - Nevanlinna, Heli
A1  - Osorio, Ana
A1  - Terry, Mary Beth
A1  - Daly, Mary B.
A1  - van Rensburg, Elisabeth J.
A1  - Hamann, Ute
A1  - Ramus, Susan J.
A1  - Toland, Amanda Ewart
A1  - Caligo, Maria A.
A1  - Olopade, Olufunmilayo I.
A1  - Tung, Nadine
A1  - Claes, Kathleen
A1  - Beattie, Mary S.
A1  - Southey, Melissa C.
A1  - Imyanitov, Evgeny N.
A1  - Tischkowitz, Marc
A1  - Janavicius, Ramunas
A1  - John, Esther M.
A1  - Kwong, Ava
A1  - Diez, Orland
A1  - Kwong, Ava
A1  - Balmaña, Judith
A1  - Barkardottir, Rosa B.
A1  - Arun, Banu K.
A1  - Rennert, Gad
A1  - Teo, Soo-Hwang
A1  - Ganz, Patricia A.
A1  - Campbell, Ian
A1  - van der Hout, Annemarie H.
A1  - van Deurzen, Carolien H. M.
A1  - Seynaeve, Caroline
A1  - Garcia, Encarna B. Gómez
A1  - van Leeuwen, Flora E.
A1  - Meijers-Heijboer, Hanne E. J.
A1  - Gille, Johannes J. P.
A1  - Ausems, Magreet G. E. M.
A1  - Blok, Marinus J.
A1  - Ligtenberg, Marjolinjin J. L.
A1  - Rookus, Matti A.
A1  - Devilee, Peter
A1  - Verhoef, Senno
A1  - van Os, Theo A. M.
A1  - Wijnen, Juul T.
A1  - Frost, Debra
A1  - Ellis, Steve
A1  - Fineberg, Elena
A1  - Platte, Radke
A1  - Evans, D. Gareth
A1  - Izatt, Luise
A1  - Eeles, Rosalind A.
A1  - Adlard, Julian
A1  - Eccles, Diana M.
A1  - Cook, Jackie
A1  - Brewer, Carole
A1  - Douglas, Fiona
A1  - Hodgson, Shirley
A1  - Morrison, Patrick J.
A1  - Side, Lucy E.
A1  - Donaldson, Alan
A1  - Houghton, Catherine
A1  - Rogers, Mark T.
A1  - Dorkins, Huw
A1  - Eason, Jacqueline
A1  - Gregory, Helen
A1  - McCann, Emma
A1  - Murray, Alex
A1  - Calender, Alain
A1  - Hardouin, Agnès
A1  - Berthet, Pascaline
A1  - Delnatte, Capucine
A1  - Nogues, Catherine
A1  - Lasset, Christine
A1  - Houdayer, Claude
A1  - Leroux,, Dominique
A1  - Rouleau, Etienne
A1  - Prieur, Fabienne
A1  - Damiola, Francesca
A1  - Sobol, Hagay
A1  - Coupier, Isabelle
A1  - Venat-Bouvet, Laurence
A1  - Castera, Laurent
A1  - Gauthier-Villars, Marion
A1  - Léoné, Mélanie
A1  - Pujol, Pascal
A1  - Mazoyer, Sylvie
A1  - Bignon, Yves-Jean
A1  - Zlowocka-Perlowska, Elzbieta
A1  - Gronwald, Jacek
A1  - Lubinski,, Jan
A1  - Durda, Katarzyna
A1  - Jaworska, Katarzyna
A1  - Huzarski, Tomasz
A1  - Spurdle, Amanda B.
A1  - Viel, Alessandra
A1  - Peissel, Bernhard
A1  - Bonanni, Bernardo
A1  - Melloni, Guilia
A1  - Ottini, Laura
A1  - Papi, Laura
A1  - Varesco, Liliana
A1  - Tibiletti, Maria Grazia
A1  - Peterlongo, Paolo
A1  - Volorio, Sara
A1  - Manoukian, Siranoush
A1  - Pensotti, Valeria
A1  - Arnold, Norbert
A1  - Engel, Christoph
A1  - Deissler, Helmut
A1  - Gadzicki, Dorothea
A1  - Gehrig, Andrea
A1  - Kast, Karin
A1  - Rhiem, Kerstin
A1  - Meindl, Alfons
A1  - Niederacher, Dieter
A1  - Ditsch, Nina
A1  - Plendl, Hansjoerg
A1  - Preisler-Adams, Sabine
A1  - Engert, Stefanie
A1  - Sutter, Christian
A1  - Varon-Mateeva, Raymenda
A1  - Wappenschmidt, Barbara
A1  - Weber, Bernhard H. F.
A1  - Arver, Brita
A1  - Stenmark-Askmalm, Marie
A1  - Loman, Niklas
A1  - Rosenquist, Richard
A1  - Einbeigi, Zakaria
A1  - Nathanson, Katherine L.
A1  - Rebbeck, Timothy R.
A1  - Blank, Stephanie V.
A1  - Cohn, David E.
A1  - Rodriguez, Gustavo C.
A1  - Small, Laurie
A1  - Friedlander, Michael
A1  - Bae-Jump, Victoria L.
A1  - Fink-Retter, Anneliese
A1  - Rappaport, Christine
A1  - Gschwantler-Kaulich, Daphne
A1  - Pfeiler, Georg
A1  - Tea, Muy-Kheng
A1  - Lindor, Noralane M.
A1  - Kaufman, Bella
A1  - Paluch, Shani Shimon
A1  - Laitman, Yael
A1  - Skytte, Anne-Bine
A1  - Gerdes, Anne-Marie
A1  - Pedersen, Inge Sokilde
A1  - Moeller, Sanne Traasdahl
A1  - Kruse, Torben A.
A1  - Jensen, Uffe Birk
A1  - Vijai, Joseph
A1  - Sarrel, Kara
A1  - Robson, Mark
A1  - Kauff, Noah
A1  - Mulligan, Anna Marie
A1  - Glendon, Gord
A1  - Ozcelik, Hilmi
A1  - Ejlertsen, Bent
A1  - Nielsen, Finn C.
A1  - Jønson, Lars
A1  - Andersen, Mette K.
A1  - Ding, Yuan Chun
A1  - Steele, Linda
A1  - Foretova, Lenka
A1  - Teulé, Alex
A1  - Lazaro, Conxi
A1  - Brunet, Joan
A1  - Pujana, Miquel Angel
A1  - Mai, Phuong L.
A1  - Loud, Jennifer T.
A1  - Walsh, Christine
A1  - Lester, Jenny
A1  - Orsulic, Sandra
A1  - Narod, Steven A.
A1  - Herzog, Josef
A1  - Sand, Sharon R.
A1  - Tognazzo, Silvia
A1  - Agata, Simona
A1  - Vaszko, Tibor
A1  - Weaver, Joellen
A1  - Stravropoulou, Alexandra V.
A1  - Buys, Saundra S.
A1  - Romero, Atocha
A1  - de la Hoya, Miguel
A1  - Aittomäki, Kristiina
A1  - Muranen, Taru A.
A1  - Duran, Mercedes
A1  - Chung, Wendy K.
A1  - Lasa, Adriana
A1  - Dorfling, Cecilia M.
A1  - Miron, Alexander
A1  - Benitez, Javier
A1  - Senter, Leigha
A1  - Huo, Dezheng
A1  - Chan, Salina B.
A1  - Sokolenko, Anna P.
A1  - Chiquette, Jocelyne
A1  - Tihomirova, Laima
A1  - Friebel, Tara M.
A1  - Agnarsson, Bjarne A.
A1  - Lu, Karen H.
A1  - Lejbkowicz, Flavio
A1  - James, Paul A.
A1  - Hall, Per
A1  - Dunning, Alison M.
A1  - Tessier, Daniel
A1  - Cunningham, Julie
A1  - Slager, Susan L.
A1  - Chen, Wang
A1  - Hart, Steven
A1  - Stevens, Kristen
A1  - Simard, Jacques
A1  - Pastinen, Tomi
A1  - Pankratz, Vernon S.
A1  - Offit, Kenneth
A1  - Easton, Douglas F.
A1  - Chenevix-Trench, Georgia
A1  - Antoniou, Antonis C.
T1  - Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
JF  - PLOS Genetics
N2  - BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7 x 10(-8), HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4 x 10(-8), HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4 x 10(-8), HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific association. The 17q21.31 locus was also associated with ovarian cancer risk in 8,211 BRCA2 carriers (P = 2 x 10(-4)). These loci may lead to an improved understanding of the etiology of breast and ovarian tumors in BRCA1 carriers. Based on the joint distribution of the known BRCA1 breast cancer risk-modifying loci, we estimated that the breast cancer lifetime risks for the 5% of BRCA1 carriers at lowest risk are 28%-50% compared to 81%-100% for the 5% at highest risk. Similarly, based on the known ovarian cancer risk-modifying loci, the 5% of BRCA1 carriers at lowest risk have an estimated lifetime risk of developing ovarian cancer of 28% or lower, whereas the 5% at highest risk will have a risk of 63% or higher. Such differences in risk may have important implications for risk prediction and clinical management for BRCA1 carriers.
KW  - common variants
KW  - susceptibility alleles
KW  - genetic variants
KW  - modifiers
KW  - ZNF365
KW  - investigators
KW  - population
KW  - consortium
KW  - selection
KW  - subtypes
Y1  - 2013
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-127947
SN  - 1553-7404
VL  - 9
IS  - 3
ER  - 
TY  - JOUR
A1  - Hudson, Lawrence N.
A1  - Newbold, Tim
A1  - Contu, Sara
A1  - Hill, Samantha L. L.
A1  - Lysenko, Igor
A1  - De Palma, Adriana
A1  - Phillips, Helen R. P.
A1  - Senior, Rebecca A.
A1  - Bennett, Dominic J.
A1  - Booth, Hollie
A1  - Choimes, Argyrios
A1  - Correia, David L. P.
A1  - Day, Julie
A1  - Echeverria-Londono, Susy
A1  - Garon, Morgan
A1  - Harrison, Michelle L. K.
A1  - Ingram, Daniel J.
A1  - Jung, Martin
A1  - Kemp, Victoria
A1  - Kirkpatrick, Lucinda
A1  - Martin, Callum D.
A1  - Pan, Yuan
A1  - White, Hannah J.
A1  - Aben, Job
A1  - Abrahamczyk, Stefan
A1  - Adum, Gilbert B.
A1  - Aguilar-Barquero, Virginia
A1  - Aizen, Marcelo
A1  - Ancrenaz, Marc
A1  - Arbelaez-Cortes, Enrique
A1  - Armbrecht, Inge
A1  - Azhar, Badrul
A1  - Azpiroz, Adrian B.
A1  - Baeten, Lander
A1  - Báldi, András
A1  - Banks, John E.
A1  - Barlow, Jos
A1  - Batáry, Péter
A1  - Bates, Adam J.
A1  - Bayne, Erin M.
A1  - Beja, Pedro
A1  - Berg, Ake
A1  - Berry, Nicholas J.
A1  - Bicknell, Jake E.
A1  - Bihn, Jochen H.
A1  - Böhning-Gaese, Katrin
A1  - Boekhout, Teun
A1  - Boutin, Celine
A1  - Bouyer, Jeremy
A1  - Brearley, Francis Q.
A1  - Brito, Isabel
A1  - Brunet, Jörg
A1  - Buczkowski, Grzegorz
A1  - Buscardo, Erika
A1  - Cabra-Garcia, Jimmy
A1  - Calvino-Cancela, Maria
A1  - Cameron, Sydney A.
A1  - Cancello, Eliana M.
A1  - Carrijo, Tiago F.
A1  - Carvalho, Anelena L.
A1  - Castro, Helena
A1  - Castro-Luna, Alejandro A.
A1  - Cerda, Rolando
A1  - Cerezo, Alexis
A1  - Chauvat, Matthieu
A1  - Clarke, Frank M.
A1  - Cleary, Daniel F. R.
A1  - Connop, Stuart P.
A1  - D'Aniello, Biagio
A1  - da Silva, Pedro Giovani
A1  - Darvill, Ben
A1  - Dauber, Jens
A1  - Dejean, Alain
A1  - Diekötter, Tim
A1  - Dominguez-Haydar, Yamileth
A1  - Dormann, Carsten F.
A1  - Dumont, Bertrand
A1  - Dures, Simon G.
A1  - Dynesius, Mats
A1  - Edenius, Lars
A1  - Elek, Zoltán
A1  - Entling, Martin H.
A1  - Farwig, Nina
A1  - Fayle, Tom M.
A1  - Felicioli, Antonio
A1  - Felton, Annika M.
A1  - Ficetola, Gentile F.
A1  - Filgueiras, Bruno K. C.
A1  - Fonte, Steve J.
A1  - Fraser, Lauchlan H.
A1  - Fukuda, Daisuke
A1  - Furlani, Dario
A1  - Ganzhorn, Jörg U.
A1  - Garden, Jenni G.
A1  - Gheler-Costa, Carla
A1  - Giordani, Paolo
A1  - Giordano, Simonetta
A1  - Gottschalk, Marco S.
A1  - Goulson, Dave
A1  - Gove, Aaron D.
A1  - Grogan, James
A1  - Hanley, Mick E.
A1  - Hanson, Thor
A1  - Hashim, Nor R.
A1  - Hawes, Joseph E.
A1  - Hébert, Christian
A1  - Helden, Alvin J.
A1  - Henden, John-André
A1  - Hernández, Lionel
A1  - Herzog, Felix
A1  - Higuera-Diaz, Diego
A1  - Hilje, Branko
A1  - Horgan, Finbarr G.
A1  - Horváth, Roland
A1  - Hylander, Kristoffer
A1  - Horváth, Roland
A1  - Isaacs-Cubides, Paola
A1  - Ishitani, Mashiro
A1  - Jacobs, Carmen T.
A1  - Jaramillo, Victor J.
A1  - Jauker, Birgit
A1  - Jonsell, Matts
A1  - Jung, Thomas S.
A1  - Kapoor, Vena
A1  - Kati, Vassiliki
A1  - Katovai, Eric
A1  - Kessler, Michael
A1  - Knop, Eva
A1  - Kolb, Annette
A1  - Körösi, Àdám
A1  - Lachat, Thibault
A1  - Lantschner, Victoria
A1  - Le Féon, Violette
A1  - LeBuhn, Gretchen
A1  - Légaré, Jean-Philippe
A1  - Letcher, Susan G.
A1  - Littlewood, Nick A.
A1  - López-Quintero, Carlos A.
A1  - Louhaichi, Mounir
A1  - Lövei, Gabor L.
A1  - Lucas-Borja, Manuel Esteban
A1  - Luja, Victor H.
A1  - Maeto, Kaoru
A1  - Magura, Tibor
A1  - Mallari, Neil Aldrin
A1  - Marin-Spiotta, Erika
A1  - Marhall, E. J. P.
A1  - Martínez, Eliana
A1  - Mayfield, Margaret M.
A1  - Mikusinski, Gregorz
A1  - Milder, Jeffery C.
A1  - Miller, James R.
A1  - Morales, Carolina L.
A1  - Muchane, Mary N.
A1  - Muchane, Muchai
A1  - Naidoo, Robin
A1  - Nakamura, Akihiro
A1  - Naoe, Shoji
A1  - Nates-Parra, Guiomar
A1  - Navarerete Gutierrez, Dario A.
A1  - Neuschulz, Eike L.
A1  - Noreika, Norbertas
A1  - Norfolk, Olivia
A1  - Noriega, Jorge Ari
A1  - Nöske, Nicole M.
A1  - O'Dea, Niall
A1  - Oduro, William
A1  - Ofori-Boateng, Caleb
A1  - Oke, Chris O.
A1  - Osgathorpe, Lynne M.
A1  - Paritsis, Juan
A1  - Parrah, Alejandro
A1  - Pelegrin, Nicolás
A1  - Peres, Carlos A.
A1  - Persson, Anna S.
A1  - Petanidou, Theodora
A1  - Phalan, Ben
A1  - Philips, T. Keith
A1  - Poveda, Katja
A1  - Power, Eileen F.
A1  - Presley, Steven J.
A1  - Proença, Vânia
A1  - Quaranta, Marino
A1  - Quintero, Carolina
A1  - Redpath-Downing, Nicola A.
A1  - Reid, J. Leighton
A1  - Reis, Yana T.
A1  - Ribeiro, Danilo B.
A1  - Richardson, Barbara A.
A1  - Richardson, Michael J.
A1  - Robles, Carolina A.
A1  - Römbke, Jörg
A1  - Romero-Duque, Luz Piedad
A1  - Rosselli, Loreta
A1  - Rossiter, Stephen J.
A1  - Roulston, T'ai H.
A1  - Rousseau, Laurent
A1  - Sadler, Jonathan P.
A1  - Sáfián, Szbolcs
A1  - Saldaña-Vásquez, Romeo A.
A1  - Samnegård, Ulrika
A1  - Schüepp, Christof
A1  - Schweiger, Oliver
A1  - Sedlock, Jodi L.
A1  - Shahabuddin, Ghazala
A1  - Sheil, Douglas
A1  - Silva, Fernando A. B.
A1  - Slade, Eleanor
A1  - Smith-Pardo, Allan H.
A1  - Sodhi, Navjot S.
A1  - Somarriba, Eduardo J.
A1  - Sosa, Ramón A.
A1  - Stout, Jane C.
A1  - Struebig, Matthew J.
A1  - Sung, Yik-Hei
A1  - Threlfall, Caragh G.
A1  - Tonietto, Rebecca
A1  - Tóthmérész, Béla
A1  - Tscharntke, Teja
A1  - Turner, Edgar C.
A1  - Tylianakis, Jason M.
A1  - Vanbergen, Adam J.
A1  - Vassilev, Kiril
A1  - Verboven, Hans A. F.
A1  - Vergara, Carlos H.
A1  - Vergara, Pablo M.
A1  - Verhulst, Jort
A1  - Walker, Tony R.
A1  - Wang, Yanping
A1  - Watling, James I.
A1  - Wells, Konstans
A1  - Williams, Christopher D.
A1  - Willig, Michael R.
A1  - Woinarski, John C. Z.
A1  - Wolf, Jan H. D.
A1  - Woodcock, Ben A.
A1  - Yu, Douglas W.
A1  - Zailsev, Andreys
A1  - Collen, Ben
A1  - Ewers, Rob M.
A1  - Mace, Georgina M.
A1  - Purves, Drew W.
A1  - Scharlemann, Jörn P. W.
A1  - Pervis, Andy
T1  - The PREDICTS database: a global database of how local terrestrial biodiversity responds to human impacts
JF  - Ecology and Evolution
N2  - Biodiversity continues to decline in the face of increasing anthropogenic pressures such as habitat destruction, exploitation, pollution and introduction of alien species. Existing global databases of species' threat status or population time series are dominated by charismatic species. The collation of datasets with broad taxonomic and biogeographic extents, and that support computation of a range of biodiversity indicators, is necessary to enable better understanding of historical declines and to project - and avert - future declines. We describe and assess a new database of more than 1.6 million samples from 78 countries representing over 28,000 species, collated from existing spatial comparisons of local-scale biodiversity exposed to different intensities and types of anthropogenic pressures, from terrestrial sites around the world. The database contains measurements taken in 208 (of 814) ecoregions, 13 (of 14) biomes, 25 (of 35) biodiversity hotspots and 16 (of 17) megadiverse countries. The database contains more than 1% of the total number of all species described, and more than 1% of the described species within many taxonomic groups - including flowering plants, gymnosperms, birds, mammals, reptiles, amphibians, beetles, lepidopterans and hymenopterans. The dataset, which is still being added to, is therefore already considerably larger and more representative than those used by previous quantitative models of biodiversity trends and responses. The database is being assembled as part of the PREDICTS project (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems - ). We make site-level summary data available alongside this article. The full database will be publicly available in 2015.
KW  - urban-rural gradient
KW  - instensively managed farmland
KW  - Mexican coffee plantations
KW  - Bombus Spp. Hymenoptera
KW  - bumblebee nest density
KW  - data sharing
KW  - land use
KW  - habitat destruction
KW  - global change
KW  - land-use change
KW  - plant community composition
KW  - Northeastern Costa Rica
KW  - dung beetle coleoptera
KW  - bird species richness
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-114425
VL  - 4
IS  - 24
ER  - 
TY  - JOUR
A1  - Ferreira, Manuel A.
A1  - Gamazon, Eric R.
A1  - Al-Ejeh, Fares
A1  - Aittomäki, Kristiina
A1  - Andrulis, Irene L.
A1  - Anton-Culver, Hoda
A1  - Arason, Adalgeir
A1  - Arndt, Volker
A1  - Aronson, Kristan J.
A1  - Arun, Banu K.
A1  - Asseryanis, Ella
A1  - Azzollini, Jacopo
A1  - Balmaña, Judith
A1  - Barnes, Daniel R.
A1  - Barrowdale, Daniel
A1  - Beckmann, Matthias W.
A1  - Behrens, Sabine
A1  - Benitez, Javier
A1  - Bermisheva, Marina
A1  - Bialkowska, Katarzyna
A1  - Blomqvist, Carl
A1  - Bogdanova, Natalia V.
A1  - Bojesen, Stig E.
A1  - Bolla, Manjeet K.
A1  - Borg, Ake
A1  - Brauch, Hiltrud
A1  - Brenner, Hermann
A1  - Broeks, Annegien
A1  - Burwinkel, Barbara
A1  - Caldés, Trinidad
A1  - Caligo, Maria A.
A1  - Campa, Daniele
A1  - Campbell, Ian
A1  - Canzian, Federico
A1  - Carter, Jonathan
A1  - Carter, Brian D.
A1  - Castelao, Jose E.
A1  - Chang-Claude, Jenny
A1  - Chanock, Stephen J.
A1  - Christiansen, Hans
A1  - Chung, Wendy K.
A1  - Claes, Kathleen B. M.
A1  - Clarke, Christine L.
A1  - Couch, Fergus J.
A1  - Cox, Angela
A1  - Cross, Simon S.
A1  - Czene, Kamila
A1  - Daly, Mary B.
A1  - de la Hoya, Miguel
A1  - Dennis, Joe
A1  - Devilee, Peter
A1  - Diez, Orland
A1  - Dörk, Thilo
A1  - Dunning, Alison M.
A1  - Dwek, Miriam
A1  - Eccles, Diana M.
A1  - Ejlertsen, Bent
A1  - Ellberg, Carolina
A1  - Engel, Christoph
A1  - Eriksson, Mikael
A1  - Fasching, Peter A.
A1  - Fletcher, Olivia
A1  - Flyger, Henrik
A1  - Friedman, Eitan
A1  - Frost, Debra
A1  - Gabrielson, Marike
A1  - Gago-Dominguez, Manuela
A1  - Ganz, Patricia A.
A1  - Gapstur, Susan M.
A1  - Garber, Judy
A1  - García-Closas, Montserrat
A1  - García-Sáenz, José A.
A1  - Gaudet, Mia M.
A1  - Giles, Graham G.
A1  - Glendon, Gord
A1  - Godwin, Andrew K.
A1  - Goldberg, Mark S.
A1  - Goldgar, David E.
A1  - González-Neira, Anna
A1  - Greene, Mark H.
A1  - Gronwald, Jacek
A1  - Guenél, Pascal
A1  - Haimann, Christopher A.
A1  - Hall, Per
A1  - Hamann, Ute
A1  - He, Wei
A1  - Heyworth, Jane
A1  - Hogervorst, Frans B. L.
A1  - Hollestelle, Antoinette
A1  - Hoover, Robert N.
A1  - Hopper, John L.
A1  - Hulick, Peter J.
A1  - Humphreys, Keith
A1  - Imyanitov, Evgeny N.
A1  - Isaacs, Claudine
A1  - Jakimovska, Milena
A1  - Jakubowska, Anna
A1  - James, Paul A.
A1  - Janavicius, Ramunas
A1  - Jankowitz, Rachel C.
A1  - John, Esther M.
A1  - Johnson, Nichola
A1  - Joseph, Vijai
A1  - Karlan, Beth Y.
A1  - Khusnutdinova, Elza
A1  - Kiiski, Johanna I.
A1  - Ko, Yon-Dschun
A1  - Jones, Michael E.
A1  - Konstantopoulou, Irene
A1  - Kristensen, Vessela N.
A1  - Laitman, Yael
A1  - Lambrechts, Diether
A1  - Lazaro, Conxi
A1  - Leslie, Goska
A1  - Lester, Jenny
A1  - Lesueur, Fabienne
A1  - Lindström, Sara
A1  - Long, Jirong
A1  - Loud, Jennifer T.
A1  - Lubiński, Jan
A1  - Makalic, Enes
A1  - Mannermaa, Arto
A1  - Manoochehri, Mehdi
A1  - Margolin, Sara
A1  - Maurer, Tabea
A1  - Mavroudis, Dimitrios
A1  - McGuffog, Lesley
A1  - Meindl, Alfons
A1  - Menon, Usha
A1  - Michailidou, Kyriaki
A1  - Miller, Austin
A1  - Montagna, Marco
A1  - Moreno, Fernando
A1  - Moserle, Lidia
A1  - Mulligan, Anna Marie
A1  - Nathanson, Katherine L.
A1  - Neuhausen, Susan L.
A1  - Nevanlinna, Heli
A1  - Nevelsteen, Ines
A1  - Nielsen, Finn C.
A1  - Nikitina-Zake, Liene
A1  - Nussbaum, Robert L.
A1  - Offit, Kenneth
A1  - Olah, Edith
A1  - Olopade, Olufunmilayo I.
A1  - Olsson, Håkan
A1  - Osorio, Ana
A1  - Papp, Janos
A1  - Park-Simon, Tjoung-Won
A1  - Parsons, Michael T.
A1  - Pedersen, Inge Sokilde
A1  - Peixoto, Ana
A1  - Peterlongo, Paolo
A1  - Pharaoh, Paul D. P.
A1  - Plaseska-Karanfilska, Dijana
A1  - Poppe, Bruce
A1  - Presneau, Nadege
A1  - Radice, Paolo
A1  - Rantala, Johanna
A1  - Rennert, Gad
A1  - Risch, Harvey A.
A1  - Saloustros, Emmanouil
A1  - Sanden, Kristin
A1  - Sawyer, Elinor J.
A1  - Schmidt, Marjanka K.
A1  - Schmutzler, Rita K.
A1  - Sharma, Priyanka
A1  - Shu, Xiao-Ou
A1  - Simard, Jaques
A1  - Singer, Christian F.
A1  - Soucy, Penny
A1  - Southey, Melissa C.
A1  - Spinelli, John J.
A1  - Spurdle, Amanda B.
A1  - Stone, Jennifer
A1  - Swerdlow, Anthony J.
A1  - Tapper, William J.
A1  - Taylor, Jack A.
A1  - Teixeira, Manuel R.
A1  - Terry, Mary Beth
A1  - Teulé, Alex
A1  - Thomassen, Mads
A1  - Thöne, Kathrin
A1  - Thull, Darcy L.
A1  - Tischkowitz, Marc
A1  - Toland, Amanda E.
A1  - Torres, Diana
A1  - Truong, Thérèse
A1  - Tung, Nadine
A1  - Vachon, Celine M.
A1  - van Asperen, Christi J.
A1  - van den Ouweland, Ans M. W.
A1  - van Rensburg, Elizabeth J.
A1  - Vega, Ana
A1  - Viel, Alexandra
A1  - Wang, Qin
A1  - Wappenschmidt, Barbara
A1  - Weitzel, Jeffrey N.
A1  - Wendt, Camilla
A1  - Winqvist, Robert
A1  - Yang, Xiaohong R.
A1  - Yannoukakos, Drakoulis
A1  - Ziogas, Argyrios
A1  - Kraft, Peter
A1  - Antoniou, Antonis C.
A1  - Zheng, Wei
A1  - Easton, Douglas F.
A1  - Milne, Roger L.
A1  - Beesley, Jonathan
A1  - Chenevix-Trench, Georgia
T1  - Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
JF  - Nature Communications
N2  - Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
KW  - cancer
KW  - genetics
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-228024
VL  - 10
ER  - 
TY  - JOUR
A1  - Sonnenschein-van der Voort, Agnes M. M.
A1  - Arends, Lidia R.
A1  - de Jongste, Johan C.
A1  - Annesi-Maesano, Isabella
A1  - Arshad, S. Hasan
A1  - Barros, Henrique
A1  - Basterrechea, Mikel
A1  - Bisgaard, Hans
A1  - Chatzi, Leda
A1  - Corpeleijn, Eva
A1  - Correia, Sofia
A1  - Craig, Leone C.
A1  - Devereux, Graham
A1  - Dogaru, Cristian
A1  - Dostal, Miroslav
A1  - Duchen, Karel
A1  - Eggesbø, Merete
A1  - van der Ent, C. Kors
A1  - Fantini, Maria P.
A1  - Forastiere, Francesco
A1  - Frey, Urs
A1  - Gehring, Ulrike
A1  - Gori, Davide
A1  - van der Gugten, Anne C.
A1  - Hanke, Wojciech
A1  - Henderson, A. John
A1  - Heude, Barbara
A1  - Iñiguez, Carmen
A1  - Inskip, Hazel M.
A1  - Keil, Thomas
A1  - Kelleher, Cecily C.
A1  - Kogevinas, Manolis
A1  - Kreiner-Møller, Eskil
A1  - Kuehni, Claudia E.
A1  - Küpers, Leanne K.
A1  - Lancz, Kinga
A1  - Larsen, Pernille S.
A1  - Lau, Susanne
A1  - Ludvigsson, Johnny
A1  - Mommers, Monique
A1  - Andersen, Anne-Marie Nybo
A1  - Palkovicova, Lubica
A1  - Pike, Katherine C.
A1  - Pizzi, Constanza
A1  - Polanska, Kinga
A1  - Porta, Daniela
A1  - Richiardi, Lorenzo
A1  - Roberts, Graham
A1  - Schmidt, Anne
A1  - Sram, Radim J.
A1  - Sunyer, Jordi
A1  - Thijs, Carel
A1  - Torrent, Maties
A1  - Viljoen, Karien
A1  - Wijga, Alet H.
A1  - Vrijheid, Martine
A1  - Jaddoe, Vincent W. V.
A1  - Duijts, Liesbeth
T1  - Preterm birth, infant weight gain, and childhood asthma risk: A meta-analysis of 147,000 European children
JF  - The Journal of Allergy and Clinical Immunology
N2  - Background
Preterm birth, low birth weight, and infant catch-up growth seem associated with an increased risk of respiratory diseases in later life, but individual studies showed conflicting results.

Objectives
We performed an individual participant data meta-analysis for 147,252 children of 31 birth cohort studies to determine the associations of birth and infant growth characteristics with the risks of preschool wheezing (1-4 years) and school-age asthma (5-10 years).

Methods
First, we performed an adjusted 1-stage random-effect meta-analysis to assess the combined associations of gestational age, birth weight, and infant weight gain with childhood asthma. Second, we performed an adjusted 2-stage random-effect meta-analysis to assess the associations of preterm birth (gestational age <37 weeks) and low birth weight (<2500 g) with childhood asthma outcomes.

Results
Younger gestational age at birth and higher infant weight gain were independently associated with higher risks of preschool wheezing and school-age asthma (P < .05). The inverse associations of birth weight with childhood asthma were explained by gestational age at birth. Compared with term-born children with normal infant weight gain, we observed the highest risks of school-age asthma in children born preterm with high infant weight gain (odds ratio [OR], 4.47; 95% CI, 2.58-7.76). Preterm birth was positively associated with an increased risk of preschool wheezing (pooled odds ratio [pOR], 1.34; 95% CI, 1.25-1.43) and school-age asthma (pOR, 1.40; 95% CI, 1.18-1.67) independent of birth weight. Weaker effect estimates were observed for the associations of low birth weight adjusted for gestational age at birth with preschool wheezing (pOR, 1.10; 95% CI, 1.00-1.21) and school-age asthma (pOR, 1.13; 95% CI, 1.01-1.27).

Conclusion
Younger gestational age at birth and higher infant weight gain were associated with childhood asthma outcomes. The associations of lower birth weight with childhood asthma were largely explained by gestational age at birth."
KW  - gestational age
KW  - low birth weight
KW  - infant growth
KW  - wheezing
KW  - asthma
KW  - epidemiology
KW  - cohort studies
KW  - children
Y1  - 2014
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-120714
VL  - 133
IS  - 5
ER  - 
TY  - JOUR
A1  - Schatton, Tobias
A1  - Yang, Jun
A1  - Kleffel, Sonja
A1  - Uehara, Mayuko
A1  - Barthel, Steven R.
A1  - Schlapbach, Christoph
A1  - Zhan, Qian
A1  - Dudeney, Stephen
A1  - Mueller, Hansgeorg
A1  - Lee, Nayoung
A1  - de Vries, Juliane C.
A1  - Meier, Barbara
A1  - Beken, Seppe Vander
A1  - Kluth, Mark A.
A1  - Ganss, Christoph
A1  - Sharpe, Arlene H.
A1  - Waaga-Gasser, Ana Maria
A1  - Sayegh, Mohamed H.
A1  - Abdi, Reza
A1  - Scharffetter-Kochanek, Karin
A1  - Murphy, George F.
A1  - Kupper, Thomas S.
A1  - Frank, Natasha Y.
A1  - Frank, Markus H.
T1  - ABCB5 Identifies Immunoregulatory Dermal Cells
JF  - Cell Reports
N2  - Cell-based strategies represent a new frontier in the treatment of immune-mediated disorders. However, the paucity of markers for isolation of molecularly defined immunomodulatory cell populations poses a barrier to this field. Here, we show that ATP-binding cassette member B5 (ABCB5) identifies dermal immunoregulatory cells (DIRCs) capable of exerting therapeutic immunoregulatory functions through engagement of programmed cell death 1 (PD-1). Purified Abcb5\(^+\) DIRCs suppressed T cell proliferation, evaded immune rejection, homed to recipient immune tissues, and induced Tregs in vivo. In fully major-histocompatibility-complex-mismatched cardiac allotransplantation models, allogeneic DIRCs significantly prolonged allograft survival. Blockade of DIRC-expressed PD-1 reversed the inhibitory effects of DIRCs on T cell activation, inhibited DIRC-dependent Treg induction, and attenuated DIRC-induced prolongation of cardiac allograft survival, indicating that DIRC immunoregulatory function is mediated, at least in part, through PD-1. Our results identify ABCB5\(^+\) DIRCs as a distinct immunoregulatory cell population and suggest promising roles of this expandable cell subset in cellular immunotherapy.
KW  - mesenchymal stem cells
KW  - P-glycoprotein
KW  - regulatory T cells
KW  - maintain immune homeostasis
KW  - malignant melanoma
KW  - in vivo
KW  - skin
KW  - generation
KW  - transplant
KW  - tolerance
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-149989
VL  - 12
SP  - 1564
EP  - 1574
ER  - 
TY  - JOUR
A1  - Waszak, Sebastian M
A1  - Northcott, Paul A
A1  - Buchhalter, Ivo
A1  - Robinson, Giles W
A1  - Sutter, Christian
A1  - Groebner, Susanne
A1  - Grund, Kerstin B
A1  - Brugières, Laurence
A1  - Jones, David T W
A1  - Pajtler, Kristian W
A1  - Morrissy, A Sorana
A1  - Kool, Marcel
A1  - Sturm, Dominik
A1  - Chavez, Lukas
A1  - Ernst, Aurelie
A1  - Brabetz, Sebastian
A1  - Hain, Michael
A1  - Zichner, Thomas
A1  - Segura-Wang, Maia
A1  - Weischenfeldt, Joachim
A1  - Rausch, Tobias
A1  - Mardin, Balca R
A1  - Zhou, Xin
A1  - Baciu, Cristina
A1  - Lawerenz, Christian
A1  - Chan, Jennifer A
A1  - Varlet, Pascale
A1  - Guerrini-Rousseau, Lea
A1  - Fults, Daniel W
A1  - Grajkowska, Wiesława
A1  - Hauser, Peter
A1  - Jabado, Nada
A1  - Ra, Young-Shin
A1  - Zitterbart, Karel
A1  - Shringarpure, Suyash S
A1  - De La Vega, Francisco M
A1  - Bustamante, Carlos D
A1  - Ng, Ho-Keung
A1  - Perry, Arie
A1  - MacDonald, Tobey J
A1  - Driever, Pablo Hernáiz
A1  - Bendel, Anne E
A1  - Bowers, Daniel C
A1  - McCowage, Geoffrey
A1  - Chintagumpala, Murali M
A1  - Cohn, Richard
A1  - Hassall, Timothy
A1  - Fleischhack, Gudrun
A1  - Eggen, Tone
A1  - Wesenberg, Finn
A1  - Feychting, Maria
A1  - Lannering, Birgitta
A1  - Schüz, Joachim
A1  - Johansen, Christoffer
A1  - Andersen, Tina V
A1  - Röösli, Martin
A1  - Kuehni, Claudia E
A1  - Grotzer, Michael
A1  - Kjaerheim, Kristina
A1  - Monoranu, Camelia M
A1  - Archer, Tenley C
A1  - Duke, Elizabeth
A1  - Pomeroy, Scott L
A1  - Shelagh, Redmond
A1  - Frank, Stephan
A1  - Sumerauer, David
A1  - Scheurlen, Wolfram
A1  - Ryzhova, Marina V
A1  - Milde, Till
A1  - Kratz, Christian P
A1  - Samuel, David
A1  - Zhang, Jinghui
A1  - Solomon, David A
A1  - Marra, Marco
A1  - Eils, Roland
A1  - Bartram, Claus R
A1  - von Hoff, Katja
A1  - Rutkowksi, Stefan
A1  - Ramaswamy, Vijay
A1  - Gilbertson, Richard J
A1  - Korshunov, Andrey
A1  - Taylor, Michael D
A1  - Lichter, Peter
A1  - Malkin, David
A1  - Gajjar, Amar
A1  - Korbel, Jan O
A1  - Pfister, Stefan M
T1  - Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort
JF  - The Lancet Oncology
N2  - Background
Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines.

Methods
In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGroup3), and group 4 (MBGroup4). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma.

Findings
We included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In our rare variant burden analysis, we compared these against 53 105 sequenced controls from ExAC and identified APC, BRCA2, PALB2, PTCH1, SUFU, and TP53 as consensus medulloblastoma predisposition genes according to our rare variant burden analysis and estimated that germline mutations accounted for 6% of medulloblastoma diagnoses in the retrospective cohort. The prevalence of genetic predispositions differed between molecular subgroups in the retrospective cohort and was highest for patients in the MBSHH subgroup (20% in the retrospective cohort). These estimates were replicated in the prospective clinical cohort (germline mutations accounted for 5% of medulloblastoma diagnoses, with the highest prevalence [14%] in the MBSHH subgroup). Patients with germline APC mutations developed MBWNT and accounted for most (five [71%] of seven) cases of MBWNT that had no somatic CTNNB1 exon 3 mutations. Patients with germline mutations in SUFU and PTCH1 mostly developed infant MBSHH. Germline TP53 mutations presented only in childhood patients in the MBSHH subgroup and explained more than half (eight [57%] of 14) of all chromothripsis events in this subgroup. Germline mutations in PALB2 and BRCA2 were observed across the MBSHH, MBGroup3, and MBGroup4 molecular subgroups and were associated with mutational signatures typical of homologous recombination repair deficiency. In patients with a genetic predisposition to medulloblastoma, 5-year progression-free survival was 52% (95% CI 40–69) and 5-year overall survival was 65% (95% CI 52–81); these survival estimates differed significantly across patients with germline mutations in different medulloblastoma predisposition genes.

Interpretation
Genetic counselling and testing should be used as a standard-of-care procedure in patients with MBWNT and MBSHH because these patients have the highest prevalence of damaging germline mutations in known cancer predisposition genes. We propose criteria for routine genetic screening for patients with medulloblastoma based on clinical and molecular tumour characteristics.
Y1  - 2018
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-233425
VL  - 19
ER  -