Biomarkers

  • Article
    | Open Access

    Here, the authors characterize immunological and microbiome alterations in a cohort of obese asthmatics, finding that disease severity negatively correlates with fecal abundance of Akkermansia muciniphila, and show in a mouse model that administration of A. muciniphila reduces airway hyper-reactivity and airway inflammation.

    • David Michalovich
    • , Noelia Rodriguez-Perez
    • , Sylwia Smolinska
    • , Michal Pirozynski
    • , David Mayhew
    • , Sorif Uddin
    • , Stephanie Van Horn
    • , Milena Sokolowska
    • , Can Altunbulakli
    • , Andrzej Eljaszewicz
    • , Benoit Pugin
    • , Weronika Barcik
    • , Magdalena Kurnik-Lucka
    • , Ken A. Saunders
    • , Karen D. Simpson
    • , Peter Schmid-Grendelmeier
    • , Ruth Ferstl
    • , Remo Frei
    • , Noriane Sievi
    • , Malcolm Kohler
    • , Pawel Gajdanowicz
    • , Katrine B. Graversen
    • , Katrine Lindholm Bøgh
    • , Marek Jutel
    • , James R. Brown
    • , Cezmi A. Akdis
    • , Edith M. Hessel
    •  & Liam O’Mahony
  • Article
    | Open Access

    Siblings of those with autism spectrum disorder (ASD) have increased likelihood of ASD or related subclinical traits. Here, studying 253 ASD families, D’Abate et al. test the predictive value of genomic copy number variation involving ASD-associated loci, with confirmation in a second cohort.

    • L. D’Abate
    • , S. Walker
    • , R. K. C. Yuen
    • , K. Tammimies
    • , J. A. Buchanan
    • , R. W. Davies
    • , B. Thiruvahindrapuram
    • , J. Wei
    • , J. Brian
    • , S. E. Bryson
    • , K. Dobkins
    • , J. Howe
    • , R. Landa
    • , J. Leef
    • , D. Messinger
    • , S. Ozonoff
    • , I. M. Smith
    • , W. L. Stone
    • , Z. E. Warren
    • , G. Young
    • , L. Zwaigenbaum
    •  & S. W. Scherer
  • Article
    | Open Access

    Histology data exists for many cancer samples and the ability to automatically image this data may provide prognostic information. Here, the authors generated an algorithm to measure tumour infiltrating lymphocytes in melanoma histology specimens and show that the ratio of these immune cells to tumour cells has prognostic value.

    • Balazs Acs
    • , Fahad Shabbir Ahmed
    • , Swati Gupta
    • , Pok Fai Wong
    • , Robyn D. Gartrell
    • , Jaya Sarin Pradhan
    • , Emanuelle M. Rizk
    • , Bonnie Gould Rothberg
    • , Yvonne M. Saenger
    •  & David L. Rimm
  • Article
    | Open Access

    Predicting the drug response of patients with cancer is crucial for implementing targeted therapy. Here, Su et al. make patient-derived cell lines and perform targeted sequencing and RNA-seq to identify CDKN2A/2B loss as a predictor of response to CDK4/6 inhibitors in esophageal squamous cell carcinoma.

    • Dan Su
    • , Dadong Zhang
    • , Jiaoyue Jin
    • , Lisha Ying
    • , Miao Han
    • , Kaiyan Chen
    • , Bin Li
    • , Junzhou Wu
    • , Zhenghua Xie
    • , Fanrong Zhang
    • , Yihui Lin
    • , Guoping Cheng
    • , Jing-Yu Li
    • , Minran Huang
    • , Jinchao Wang
    • , Kailai Wang
    • , Jianjun Zhang
    • , Fugen Li
    • , Lei Xiong
    • , Andrew Futreal
    •  & Weimin Mao
  • Article
    | Open Access

    Risk of age-related chronic disorders and decrease in resilience is associated with ageing. Here the authors analyse the human blood metabolome and identify metabolites associated with frailty.

    • Nicholas J. W. Rattray
    • , Drupad K. Trivedi
    • , Yun Xu
    • , Tarani Chandola
    • , Caroline H. Johnson
    • , Alan D. Marshall
    • , Krisztina Mekli
    • , Zahra Rattray
    • , Gindo Tampubolon
    • , Bram Vanhoutte
    • , Iain R. White
    • , Frederick C. W. Wu
    • , Neil Pendleton
    • , James Nazroo
    •  & Royston Goodacre
  • Article
    | Open Access

    Knottin is a cystine knot peptide. Here, the authors develop a knottin-based tracer for positron emission tomography and demonstrate its ability to detect cancer and idiopathic pulmonary fibrosis through selective binding to integrin αvβ6.

    • Richard H. Kimura
    • , Ling Wang
    • , Bin Shen
    • , Li Huo
    • , Willemieke Tummers
    • , Fabian V. Filipp
    • , Haiwei Henry Guo
    • , Thomas Haywood
    • , Lotfi Abou-Elkacem
    • , Lucia Baratto
    • , Frezghi Habte
    • , Rammohan Devulapally
    • , Timothy H. Witney
    • , Yan Cheng
    • , Suhas Tikole
    • , Subhendu Chakraborti
    • , Jay Nix
    • , Christopher A. Bonagura
    • , Negin Hatami
    • , Joshua J. Mooney
    • , Tushar Desai
    • , Scott Turner
    • , Richard S. Gaster
    • , Andrea Otte
    • , Brendan C. Visser
    • , George A. Poultsides
    • , Jeffrey Norton
    • , Walter Park
    • , Mark Stolowitz
    • , Kenneth Lau
    • , Eric Yang
    • , Arutselvan Natarajan
    • , Ohad Ilovich
    • , Shyam Srinivas
    • , Ananth Srinivasan
    • , Ramasamy Paulmurugan
    • , Juergen Willmann
    • , Frederick T. Chin
    • , Zhen Cheng
    • , Andrei Iagaru
    • , Fang Li
    •  & Sanjiv S. Gambhir
  • Article
    | Open Access

    Immune-checkpoint inhibition therapy has achieved success in a subset of patients. Here the authors profiled about 200 relevant metabolites in patient serum samples from three independent immunotherapy trials and found the serum kynurenine/tryptophan ratio increases to be associated with worse overall survival.

    • Haoxin Li
    • , Kevin Bullock
    • , Carino Gurjao
    • , David Braun
    • , Sachet A. Shukla
    • , Dominick Bossé
    • , Aly-Khan A. Lalani
    • , Shuba Gopal
    • , Chelsea Jin
    • , Christine Horak
    • , Megan Wind-Rotolo
    • , Sabina Signoretti
    • , David F. McDermott
    • , Gordon J. Freeman
    • , Eliezer M. Van Allen
    • , Stuart L. Schreiber
    • , F. Stephen Hodi
    • , William R. Sellers
    • , Levi A. Garraway
    • , Clary B. Clish
    • , Toni K. Choueiri
    •  & Marios Giannakis
  • Article
    | Open Access

    Prostate cancer progression may be enhanced by a high-fat diet. Here the authors show that a diet high in saturated fats enhance the MYC-driven transcriptional program, a feature that independently predicts prostate cancer progression and death.

    • David P. Labbé
    • , Giorgia Zadra
    • , Meng Yang
    • , Jaime M. Reyes
    • , Charles Y. Lin
    • , Stefano Cacciatore
    • , Ericka M. Ebot
    • , Amanda L. Creech
    • , Francesca Giunchi
    • , Michelangelo Fiorentino
    • , Habiba Elfandy
    • , Sudeepa Syamala
    • , Edward D. Karoly
    • , Mohammed Alshalalfa
    • , Nicholas Erho
    • , Ashley Ross
    • , Edward M. Schaeffer
    • , Ewan A. Gibb
    • , Mandeep Takhar
    • , Robert B. Den
    • , Jonathan Lehrer
    • , R. Jeffrey Karnes
    • , Stephen J. Freedland
    • , Elai Davicioni
    • , Daniel E. Spratt
    • , Leigh Ellis
    • , Jacob D. Jaffe
    • , Anthony V. DʼAmico
    • , Philip W. Kantoff
    • , James E. Bradner
    • , Lorelei A. Mucci
    • , Jorge E. Chavarro
    • , Massimo Loda
    •  & Myles Brown
  • Article
    | Open Access

    The use of PET for detection of Aβ in the brain in AD has limitations; studies also indicate that retinal changes, including Aβ deposition, occur in AD. Here the authors demonstrate the potential to use in vivo retinal hyperspectral imaging as a surrogate for brain accumulation of Aβ.

    • Xavier Hadoux
    • , Flora Hui
    • , Jeremiah K. H. Lim
    • , Colin L. Masters
    • , Alice Pébay
    • , Sophie Chevalier
    • , Jason Ha
    • , Samantha Loi
    • , Christopher J. Fowler
    • , Christopher Rowe
    • , Victor L. Villemagne
    • , Edward N. Taylor
    • , Christopher Fluke
    • , Jean-Paul Soucy
    • , Frédéric Lesage
    • , Jean-Philippe Sylvestre
    • , Pedro Rosa-Neto
    • , Sulantha Mathotaarachchi
    • , Serge Gauthier
    • , Ziad S. Nasreddine
    • , Jean Daniel Arbour
    • , Marc-André Rhéaume
    • , Sylvain Beaulieu
    • , Mohamed Dirani
    • , Christine T. O. Nguyen
    • , Bang V. Bui
    • , Robert Williamson
    • , Jonathan G. Crowston
    •  & Peter van Wijngaarden
  • Article
    | Open Access

    Biomarkers that predict mortality are of interest for clinical as well as research applications. Here, the authors analyze metabolomics data from 44,168 individuals and identify key metabolites independently associated with all-cause mortality risk.

    • Joris Deelen
    • , Johannes Kettunen
    • , Krista Fischer
    • , Ashley van der Spek
    • , Stella Trompet
    • , Gabi Kastenmüller
    • , Andy Boyd
    • , Jonas Zierer
    • , Erik B. van den Akker
    • , Mika Ala-Korpela
    • , Najaf Amin
    • , Ayse Demirkan
    • , Mohsen Ghanbari
    • , Diana van Heemst
    • , M. Arfan Ikram
    • , Jan Bert van Klinken
    • , Simon P. Mooijaart
    • , Annette Peters
    • , Veikko Salomaa
    • , Naveed Sattar
    • , Tim D. Spector
    • , Henning Tiemeier
    • , Aswin Verhoeven
    • , Melanie Waldenberger
    • , Peter Würtz
    • , George Davey Smith
    • , Andres Metspalu
    • , Markus Perola
    • , Cristina Menni
    • , Johanna M. Geleijnse
    • , Fotios Drenos
    • , Marian Beekman
    • , J. Wouter Jukema
    • , Cornelia M. van Duijn
    •  & P. Eline Slagboom
  • Article
    | Open Access

    Microalbuminuria, a clinical marker associated with cancer and hypertension, defined by low albumin levels in the urine, is normally detected by immunoassay. Herein, a nanosensor paint was developed using a polymer to mimic fatty acid binding to albumin, transduced by carbon nanotube fluorescence.

    • Januka Budhathoki-Uprety
    • , Janki Shah
    • , Joshua A. Korsen
    • , Alysandria E. Wayne
    • , Thomas V. Galassi
    • , Joseph R. Cohen
    • , Jackson D. Harvey
    • , Prakrit V. Jena
    • , Lakshmi V. Ramanathan
    • , Edgar A. Jaimes
    •  & Daniel A. Heller
  • Article
    | Open Access

    In acute myeloid leukemia, hypomethylating agents decitabine and azacytidine are used interchangeably. Here, the authors show that the major metabolite of decitabine, but not azacytidine, is subject to SAMHD1 inactivation, highlighting SAMHD1 as a potential biomarker and therapeutic target

    • Thomas Oellerich
    • , Constanze Schneider
    • , Dominique Thomas
    • , Kirsten M. Knecht
    • , Olga Buzovetsky
    • , Lars Kaderali
    • , Christoph Schliemann
    • , Hanibal Bohnenberger
    • , Linus Angenendt
    • , Wolfgang Hartmann
    • , Eva Wardelmann
    • , Tamara Rothenburger
    • , Sebastian Mohr
    • , Sebastian Scheich
    • , Federico Comoglio
    • , Anne Wilke
    • , Philipp Ströbel
    • , Hubert Serve
    • , Martin Michaelis
    • , Nerea Ferreirós
    • , Gerd Geisslinger
    • , Yong Xiong
    • , Oliver T. Keppler
    •  & Jindrich Cinatl Jr.
  • Perspective
    | Open Access

    No effective therapies exist for dry age-related macular degeneration. In this perspective, the authors propose that research should emphasize system biology approaches that integrate various ‘omics’ data into mathematical models to establish pathogenic mechanisms on which to design novel treatments, and identify biomarkers that predict disease progression and therapeutic response.

    • James T. Handa
    • , Cathy Bowes Rickman
    • , Andrew D. Dick
    • , Michael B. Gorin
    • , Joan W. Miller
    • , Cynthia A. Toth
    • , Marius Ueffing
    • , Marco Zarbin
    •  & Lindsay A. Farrer
  • Article
    | Open Access

    Predominant participation of European-ancestry individuals in genetic studies has hindered the better understanding of genetic risk in non-European ancestry individuals. Here, Duncan et al. quantify polygenic risk score use and performance in worldwide populations.

    • L. Duncan
    • , H. Shen
    • , B. Gelaye
    • , J. Meijsen
    • , K. Ressler
    • , M. Feldman
    • , R. Peterson
    •  & B. Domingue
  • Article
    | Open Access

    There is no universal reference material to develop extracellular vesicle (EV) separation methods and carry out calibration and normalization. Here the authors use HIV-derived gag proteins to assemble recombinant fluorescent EV as a trackable reference material resembling the physical and biochemical properties of sample EV.

    • Edward Geeurickx
    • , Joeri Tulkens
    • , Bert Dhondt
    • , Jan Van Deun
    • , Lien Lippens
    • , Glenn Vergauwen
    • , Elisa Heyrman
    • , Delphine De Sutter
    • , Kris Gevaert
    • , Francis Impens
    • , Ilkka Miinalainen
    • , Pieter-Jan Van Bockstal
    • , Thomas De Beer
    • , Marca H. M. Wauben
    • , Esther N. M. Nolte-‘t-Hoen
    • , Katarzyna Bloch
    • , Johannes V. Swinnen
    • , Edwin van der Pol
    • , Rienk Nieuwland
    • , Geert Braems
    • , Nico Callewaert
    • , Pieter Mestdagh
    • , Jo Vandesompele
    • , Hannelore Denys
    • , Sven Eyckerman
    • , Olivier De Wever
    •  & An Hendrix
  • Article
    | Open Access

    Epigenetic differences in nasal epithelium have been proposed as a biomarker for lower airway disease and asthma. Here, in epigenome-wide association studies for asthma and other airway traits using nasal swabs, the authors identify differentially methylated CpGs that highlight genes involved in TH2 response.

    • Andres Cardenas
    • , Joanne E. Sordillo
    • , Sheryl L. Rifas-Shiman
    • , Wonil Chung
    • , Liming Liang
    • , Brent A. Coull
    • , Marie-France Hivert
    • , Peggy S. Lai
    • , Erick Forno
    • , Juan C. Celedón
    • , Augusto A. Litonjua
    • , Kasey J. Brennan
    • , Dawn L. DeMeo
    • , Andrea A. Baccarelli
    • , Emily Oken
    •  & Diane R. Gold
  • Article
    | Open Access

    Dimethyl fumarate (DMF) is an established treatment for relapsing multiple sclerosis with unclear mechanism of action. Here the authors distinguish DMF responders by monocyte counts and redox gene signature in a prospective longitudinal cohort at 3 month of therapy, and associate NOX3 genetic variants with outcome.

    • Karl E. Carlström
    • , Ewoud Ewing
    • , Mathias Granqvist
    • , Alexandra Gyllenberg
    • , Shahin Aeinehband
    • , Sara Lind Enoksson
    • , Antonio Checa
    • , Tejaswi V. S. Badam
    • , Jesse Huang
    • , David Gomez-Cabrero
    • , Mika Gustafsson
    • , Faiez Al Nimer
    • , Craig E. Wheelock
    • , Ingrid Kockum
    • , Tomas Olsson
    • , Maja Jagodic
    •  & Fredrik Piehl
  • Article
    | Open Access

    Zero-field nuclear magnetic resonance can identify species and collective behaviors in mixtures without applied magnetic fields. Here the authors demonstrate its use for resolving proton exchange in ammonium and for the detection of hyperpolarized pyruvic acid, an important imaging biomarker.

    • Danila A. Barskiy
    • , Michael C. D. Tayler
    • , Irene Marco-Rius
    • , John Kurhanewicz
    • , Daniel B. Vigneron
    • , Sevil Cikrikci
    • , Ayca Aydogdu
    • , Moritz Reh
    • , Andrey N. Pravdivtsev
    • , Jan-Bernd Hövener
    • , John W. Blanchard
    • , Teng Wu
    • , Dmitry Budker
    •  & Alexander Pines
  • Article
    | Open Access

    The use of of CDK4/6 inhibitors to treat patients with TNBC is limited by loss of Rb. Here, the authors show that a combination of CDK4/6 inhibitor and EGFR inhibitor is effective against DEDD-overexpressing TNBC, independent of Rb status.

    • Yingjia Ni
    • , Keon R. Schmidt
    • , Barnes A. Werner
    • , Jenna K. Koenig
    • , Ian H. Guldner
    • , Patricia M. Schnepp
    • , Xuejuan Tan
    • , Lan Jiang
    • , Misha Host
    • , Longhua Sun
    • , Erin N. Howe
    • , Junmin Wu
    • , Laurie E. Littlepage
    • , Harikrishna Nakshatri
    •  & Siyuan Zhang
  • Article
    | Open Access

    Patterns of brain activity during sleep in early stages of life influence brain development and behavior. Here, the authors reveal cortical dynamics underpinning quiet and active sleep states in pre- and full-term infants, and their links to neurodevelopmental outcomes.

    • Anton Tokariev
    • , James A. Roberts
    • , Andrew Zalesky
    • , Xuelong Zhao
    • , Sampsa Vanhatalo
    • , Michael Breakspear
    •  & Luca Cocchi
  • Article
    | Open Access

    Environmental influences during prenatal development may have implications for health and disease later in life. Here, Czamara et al. assess DNA methylation in cord blood from new-born under various models including environmental and genetic effects individually and their additive or interaction effects.

    • Darina Czamara
    • , Gökçen Eraslan
    • , Christian M. Page
    • , Jari Lahti
    • , Marius Lahti-Pulkkinen
    • , Esa Hämäläinen
    • , Eero Kajantie
    • , Hannele Laivuori
    • , Pia M. Villa
    • , Rebecca M. Reynolds
    • , Wenche Nystad
    • , Siri E. Håberg
    • , Stephanie J. London
    • , Kieran J. O’Donnell
    • , Elika Garg
    • , Michael J. Meaney
    • , Sonja Entringer
    • , Pathik D. Wadhwa
    • , Claudia Buss
    • , Meaghan J. Jones
    • , David T. S. Lin
    • , Julie L. MacIsaac
    • , Michael S. Kobor
    • , Nastassja Koen
    • , Heather J. Zar
    • , Karestan C. Koenen
    • , Shareefa Dalvie
    • , Dan J. Stein
    • , Ivan Kondofersky
    • , Nikola S. Müller
    • , Fabian J. Theis
    • , Naomi R. Wray
    • , Stephan Ripke
    • , Manuel Mattheisen
    • , Maciej Trzaskowski
    • , Enda M. Byrne
    • , Abdel Abdellaoui
    • , Mark J. Adams
    • , Esben Agerbo
    • , Tracy M. Air
    • , Till F. M. Andlauer
    • , Silviu-Alin Bacanu
    • , Marie Bækvad-Hansen
    • , Aartjan T. F. Beekman
    • , Tim B. Bigdeli
    • , Douglas H. R. Blackwood
    • , Julien Bryois
    • , Henriette N. Buttenschøn
    • , Jonas Bybjerg-Grauholm
    • , Na Cai
    • , Enrique Castelao
    • , Jane Hvarregaard Christensen
    • , Toni-Kim Clarke
    • , Jonathan R. I. Coleman
    • , Lucía Colodro-Conde
    • , Baptiste Couvy-Duchesne
    • , Nick Craddock
    • , Gregory E. Crawford
    • , Gail Davies
    • , Ian J. Deary
    • , Franziska Degenhardt
    • , Eske M. Derks
    • , Nese Direk
    • , Conor V. Dolan
    • , Erin C. Dunn
    • , Thalia C. Eley
    • , Valentina Escott-Price
    • , Farnush Farhadi Hassan Kiadeh
    • , Hilary K. Finucane
    • , Andreas J. Forstner
    • , Josef Frank
    • , Héléna A. Gaspar
    • , Michael Gill
    • , Fernando S. Goes
    • , Scott D. Gordon
    • , Jakob Grove
    • , Lynsey S. Hall
    • , Christine Søholm Hansen
    • , Thomas F. Hansen
    • , Stefan Herms
    • , Ian B. Hickie
    • , Per Hoffmann
    • , Georg Homuth
    • , Carsten Horn
    • , Jouke-Jan Hottenga
    • , David M. Hougaard
    • , Marcus Ising
    • , Rick Jansen
    • , Eric Jorgenson
    • , James A. Knowles
    • , Isaac S. Kohane
    • , Julia Kraft
    • , Warren W. Kretzschmar
    • , Jesper Krogh
    • , Zoltán Kutalik
    • , Yihan Li
    • , Penelope A. Lind
    • , Donald J. MacIntyre
    • , Dean F. MacKinnon
    • , Robert M. Maier
    • , Wolfgang Maier
    • , Jonathan Marchini
    • , Hamdi Mbarek
    • , Patrick McGrath
    • , Peter McGuffin
    • , Sarah E. Medland
    • , Divya Mehta
    • , Christel M. Middeldorp
    • , Evelin Mihailov
    • , Yuri Milaneschi
    • , Lili Milani
    • , Francis M. Mondimore
    • , Grant W. Montgomery
    • , Sara Mostafavi
    • , Niamh Mullins
    • , Matthias Nauck
    • , Bernard Ng
    • , Michel G. Nivard
    • , Dale R. Nyholt
    • , Paul F. O’Reilly
    • , Hogni Oskarsson
    • , Michael J. Owen
    • , Jodie N. Painter
    • , Carsten Bøcker Pedersen
    • , Marianne Giørtz Pedersen
    • , Roseann E. Peterson
    • , Erik Pettersson
    • , Wouter J. Peyrot
    • , Giorgio Pistis
    • , Danielle Posthuma
    • , Jorge A. Quiroz
    • , Per Qvist
    • , John P. Rice
    • , Brien P. Riley
    • , Margarita Rivera
    • , Saira Saeed Mirza
    • , Robert Schoevers
    • , Eva C. Schulte
    • , Ling Shen
    • , Jianxin Shi
    • , Stanley I. Shyn
    • , Engilbert Sigurdsson
    • , Grant C. B. Sinnamon
    • , Johannes H. Smit
    • , Daniel J. Smith
    • , Hreinn Stefansson
    • , Stacy Steinberg
    • , Fabian Streit
    • , Jana Strohmaier
    • , Katherine E. Tansey
    • , Henning Teismann
    • , Alexander Teumer
    • , Wesley Thompson
    • , Pippa A. Thomson
    • , Thorgeir E. Thorgeirsson
    • , Matthew Traylor
    • , Jens Treutlein
    • , Vassily Trubetskoy
    • , André G. Uitterlinden
    • , Daniel Umbricht
    • , Sandra Van der Auwera
    • , Albert M. van Hemert
    • , Alexander Viktorin
    • , Peter M. Visscher
    • , Yunpeng Wang
    • , Bradley T. Webb
    • , Shantel Marie Weinsheimer
    • , Jürgen Wellmann
    • , Gonneke Willemsen
    • , Stephanie H. Witt
    • , Yang Wu
    • , Hualin S. Xi
    • , Jian Yang
    • , Futao Zhang
    • , Volker Arolt
    • , Bernhard T. Baune
    • , Klaus Berger
    • , Dorret I. Boomsma
    • , Sven Cichon
    • , Udo Dannlowski
    • , E. J. C. de Geus
    • , J. Raymond DePaulo
    • , Enrico Domenici
    • , Katharina Domschke
    • , Tõnu Esko
    • , Hans J. Grabe
    • , Steven P. Hamilton
    • , Caroline Hayward
    • , Andrew C. Heath
    • , Kenneth S. Kendler
    • , Stefan Kloiber
    • , Glyn Lewis
    • , Qingqin S. Li
    • , Susanne Lucae
    • , Pamela A. F. Madden
    • , Patrik K. Magnusson
    • , Nicholas G. Martin
    • , Andrew M. McIntosh
    • , Andres Metspalu
    • , Ole Mors
    • , Preben Bo Mortensen
    • , Bertram Müller-Myhsok
    • , Merete Nordentoft
    • , Markus M. Nöthen
    • , Michael C. O’Donovan
    • , Sara A. Paciga
    • , Nancy L. Pedersen
    • , Brenda W. J. H. Penninx
    • , Roy H. Perlis
    • , David J. Porteous
    • , James B. Potash
    • , Martin Preisig
    • , Marcella Rietschel
    • , Catherine Schaefer
    • , Thomas G. Schulze
    • , Jordan W. Smoller
    • , Kari Stefansson
    • , Henning Tiemeier
    • , Rudolf Uher
    • , Henry Völzke
    • , Myrna M. Weissman
    • , Thomas Werge
    • , Cathryn M. Lewis
    • , Douglas F. Levinson
    • , Gerome Breen
    • , Anders D. Børglum
    • , Patrick F. Sullivan
    • , Katri Räikkönen
    •  & Elisabeth B. Binder
  • Article
    | Open Access

    Protein degradation in clinical samples is largely unexplored. Here, the authors analyze the transcriptome and proteome of clinical tissue samples and develop an algorithm to assess protein degradation, showing that protein degradation is negligible in most tissue samples and does not correlate with transcript degradation.

    • Wenguang Shao
    • , Tiannan Guo
    • , Nora C. Toussaint
    • , Peng Xue
    • , Ulrich Wagner
    • , Li Li
    • , Konstantina Charmpi
    • , Yi Zhu
    • , Jianmin Wu
    • , Marija Buljan
    • , Rui Sun
    • , Dorothea Rutishauser
    • , Thomas Hermanns
    • , Christian Daniel Fankhauser
    • , Cedric Poyet
    • , Jelena Ljubicic
    • , Niels Rupp
    • , Jan H. Rüschoff
    • , Qing Zhong
    • , Andreas Beyer
    • , Jiafu Ji
    • , Ben C. Collins
    • , Yansheng Liu
    • , Gunnar Rätsch
    • , Peter J. Wild
    •  & Ruedi Aebersold
  • Article
    | Open Access

    LKB1 is frequently mutated in lung squamous cell carcinomas. Here, the authors show that sole LKB1 depletion is sufficient to drive the development of this cancer, where downstream defective MKK7-JNK1/2 signalling activates the ∆Np63/p63 pathway to induce subsequent epithelial cells transformation and tumour progression.

    • Jian Liu
    • , Tianyuan Wang
    • , Chad J. Creighton
    • , San-Pin Wu
    • , Madhumita Ray
    • , Kyathanahalli S. Janardhan
    • , Cynthia J. Willson
    • , Sung-Nam Cho
    • , Patricia D. Castro
    • , Michael M. Ittmann
    • , Jian-Liang Li
    • , Roger J. Davis
    •  & Francesco J. DeMayo
  • Article
    | Open Access

    Structural variations in gastric cancer impact progression. Here, the authors perform whole-genome sequencing on 168 gastric cancer patients and identified tandem-duplications of super-enhancer ZFP36L2 in 10% of gastric cancer, and mutational signatures in tumors with cadherin 1 mutations that associated with poor prognoses.

    • Rui Xing
    • , Yong Zhou
    • , Jun Yu
    • , Yingyan Yu
    • , Yongzhan Nie
    • , Wen Luo
    • , Chao Yang
    • , Teng Xiong
    • , William K. K. Wu
    • , Zhongwu Li
    • , Yang Bing
    • , Shuye Lin
    • , Yaping Zhang
    • , Yingqi Hu
    • , Lin Li
    • , Lijuan Han
    • , Chen Yang
    • , Shaogang Huang
    • , Suiping Huang
    • , Rui Zhou
    • , Jing Li
    • , Kaichun Wu
    • , Daiming Fan
    • , Guangbo Tang
    • , Jianhua Dou
    • , Zhenggang Zhu
    • , Jiafu Ji
    • , Xiaodong Fang
    •  & Youyong Lu
  • Article
    | Open Access

    Adaptive immunity from both B and T cells critically controls the rejection or survival of transplanted organs. Here the authors show, by analyzing human B cell receptor repertoire in longitudinal studies of patients receiving kidney transplants, that repertoire diversity is positively associated with the incidence of kidney rejection.

    • Silvia Pineda
    • , Tara K. Sigdel
    • , Juliane M. Liberto
    • , Flavio Vincenti
    • , Marina Sirota
    •  & Minnie M. Sarwal
  • Article
    | Open Access

    The relationship between genomic alteration and immune context in non-small cell lung cancer (NSCLC) is complex. Here, the authors analyse the molecular and immunological landscape of 245 Chinese patients with NSCLC and find low immune infiltration correlates with genomic alterations.

    • Xu-Chao Zhang
    • , Jun Wang
    • , Guo-Guang Shao
    • , Qun Wang
    • , Xiaotao Qu
    • , Bo Wang
    • , Christopher Moy
    • , Yue Fan
    • , Zayed Albertyn
    • , Xiayu Huang
    • , Jingyu Zhang
    • , Yang Qiu
    • , Suso Platero
    • , Matthew V. Lorenzi
    • , Enrique Zudaire
    • , Jennifer Yang
    • , Ying Cheng
    • , Lin Xu
    •  & Yi-Long Wu
  • Article
    | Open Access

    Gene expression profiles can classify breast cancer into five clinically relevant subtypes. Here, the authors perform an in-depth quantitative profiling of the proteome of 45 breast tumors, and show they can recapitulate the transcriptome-based classifications and identify many potentially antigenic tumour-specific peptides.

    • Henrik J. Johansson
    • , Fabio Socciarelli
    • , Nathaniel M. Vacanti
    • , Mads H. Haugen
    • , Yafeng Zhu
    • , Ioannis Siavelis
    • , Alejandro Fernandez-Woodbridge
    • , Miriam R. Aure
    • , Bengt Sennblad
    • , Mattias Vesterlund
    • , Rui M. Branca
    • , Lukas M. Orre
    • , Mikael Huss
    • , Erik Fredlund
    • , Elsa Beraki
    • , Øystein Garred
    • , Jorrit Boekel
    • , Torill Sauer
    • , Wei Zhao
    • , Silje Nord
    • , Elen K. Höglander
    • , Daniel C. Jans
    • , Hjalmar Brismar
    • , Tonje H. Haukaas
    • , Tone F. Bathen
    • , Ellen Schlichting
    • , Bjørn Naume
    • , Jürgen Geisler
    • , Solveig Hofvind
    • , Olav Engebråten
    • , Gry Aarum Geitvik
    • , Anita Langerød
    • , Rolf Kåresen
    • , Gunhild Mari Mælandsmo
    • , Therese Sørlie
    • , Helle Kristine Skjerven
    • , Daehoon Park
    • , Olaf-Johan Hartman-Johnsen
    • , Torben Luders
    • , Elin Borgen
    • , Vessela N. Kristensen
    • , Hege G. Russnes
    • , Ole Christian Lingjærde
    • , Gordon B. Mills
    • , Kristine K. Sahlberg
    • , Anne-Lise Børresen-Dale
    •  & Janne Lehtiö
  • Article
    | Open Access

    Ex vivo methods of circulating tumor cell (CTC) isolation use small blood volumes, limiting sensitivity and introducing analytical inaccuracies. The authors describe a proof-of-concept study of an in vivo aphaeresis system that continuously collects CTCs from a peripheral vein over several hours.

    • Tae Hyun Kim
    • , Yang Wang
    • , C. Ryan Oliver
    • , Douglas H. Thamm
    • , Laura Cooling
    • , Costanza Paoletti
    • , Kaylee J. Smith
    • , Sunitha Nagrath
    •  & Daniel F. Hayes
  • Article
    | Open Access

    Development of cirrhosis in individuals with non-alcoholic fatty liver disease can predict mortality. Here the authors used a unique twin and family cohort to identify a gut microbiome-derived 16sRNA signature that can detect cirrhosis in individuals with non-alcoholic fatty liver disease.

    • Cyrielle Caussy
    • , Anupriya Tripathi
    • , Greg Humphrey
    • , Shirin Bassirian
    • , Seema Singh
    • , Claire Faulkner
    • , Ricki Bettencourt
    • , Emily Rizo
    • , Lisa Richards
    • , Zhenjiang Z. Xu
    • , Michael R. Downes
    • , Ronald M. Evans
    • , David A. Brenner
    • , Claude B. Sirlin
    • , Rob Knight
    •  & Rohit Loomba
  • Article
    | Open Access

    Here, Elovitz et al. investigate associations between cervicovaginal microbiota (CVM) and spontaneous preterm birth (sPTB) in a large cohort of African American and non-African American women, and find that CVM and local immune response early in pregnancy are associated with sPTB in an ethnicity-dependent manner.

    • Michal A. Elovitz
    • , Pawel Gajer
    • , Valerie Riis
    • , Amy G. Brown
    • , Michael S. Humphrys
    • , Johanna B. Holm
    •  & Jacques Ravel
  • Article
    | Open Access

    The RV144 vaccine trial showed reduced risk of HIV-1 acquisition, but mechanisms underlying protection are poorly understood. Here, Fourati et al. assess the transcriptomic profile of blood collected from 223 vaccinees and 40 placebo recipients and identify IRF7 as a mediator of protection.

    • Slim Fourati
    • , Susan Pereira Ribeiro
    • , Filipa Blasco Tavares Pereira Lopes
    • , Aarthi Talla
    • , Francois Lefebvre
    • , Mark Cameron
    • , J. Kaewkungwal
    • , P. Pitisuttithum
    • , S. Nitayaphan
    • , S. Rerks-Ngarm
    • , Jerome H. Kim
    • , Rasmi Thomas
    • , Peter B. Gilbert
    • , Georgia D. Tomaras
    • , Richard A. Koup
    • , Nelson L. Michael
    • , M. Juliana McElrath
    • , Raphael Gottardo
    •  & Rafick-Pierre Sékaly
  • Article
    | Open Access

    Here, the authors explore the relationship between socioeconomic position (SEP) across the life course and inflammation in a multi-cohort study and show that educational attainment is most strongly related to inflammation, suggesting that socioeconomic disadvantage in young adulthood is independently associated with later life inflammation.

    • Eloïse Berger
    • , Raphaële Castagné
    • , Marc Chadeau-Hyam
    • , Murielle Bochud
    • , Angelo d’Errico
    • , Martina Gandini
    • , Maryam Karimi
    • , Mika Kivimäki
    • , Vittorio Krogh
    • , Michael Marmot
    • , Salvatore Panico
    • , Martin Preisig
    • , Fulvio Ricceri
    • , Carlotta Sacerdote
    • , Andrew Steptoe
    • , Silvia Stringhini
    • , Rosario Tumino
    • , Paolo Vineis
    • , Cyrille Delpierre
    •  & Michelle Kelly-Irving
  • Article
    | Open Access

    Diverse interactions between the nervous and immune systems have been shown, but specific mechanistic insights are still lacking. Here the authors show, using both mouse inflammation models and clinical correlation, that adrenergic nerve may ameliorate inflammation by inducing repulsive guidance molecule A signalling.

    • Andreas Körner
    • , Martin Schlegel
    • , Torsten Kaussen
    • , Verena Gudernatsch
    • , Georg Hansmann
    • , Timo Schumacher
    • , Martin Giera
    •  & Valbona Mirakaj
  • Article
    | Open Access

    FLT3 is commonly mutated in acute myeloid leukaemia and treatment with FLT3 inhibitors often ends with relapse. Here, the authors perform exome sequencing of samples from patients treated with the FLT3 inhibitor, crenolanib, to show that resistance occurs due to diverse molecular mechanisms, not primarily due to secondary FLT3 mutations.

    • Haijiao Zhang
    • , Samantha Savage
    • , Anna Reister Schultz
    • , Daniel Bottomly
    • , Libbey White
    • , Erik Segerdell
    • , Beth Wilmot
    • , Shannon K. McWeeney
    • , Christopher A. Eide
    • , Tamilla Nechiporuk
    • , Amy Carlos
    • , Rachel Henson
    • , Chenwei Lin
    • , Robert Searles
    • , Hoang Ho
    • , Yee Ling Lam
    • , Richard Sweat
    • , Courtney Follit
    • , Vinay Jain
    • , Evan Lind
    • , Gautam Borthakur
    • , Guillermo Garcia-Manero
    • , Farhad Ravandi
    • , Hagop M. Kantarjian
    • , Jorge Cortes
    • , Robert Collins
    • , Daelynn R. Buelow
    • , Sharyn D. Baker
    • , Brian J. Druker
    •  & Jeffrey W. Tyner
  • Article
    | Open Access

    In gene regulation, diversification at the transcriptome 3′end is linked to differentiation and dedifferentiation. Here, the authors discover extensive transcriptome 3′end-alterations in neuroblastoma, regulated by PCF11, and provide an interactive data repository of transcriptome-wide alternative polyadenylation.

    • Anton Ogorodnikov
    • , Michal Levin
    • , Surendra Tattikota
    • , Sergey Tokalov
    • , Mainul Hoque
    • , Denise Scherzinger
    • , Federico Marini
    • , Ansgar Poetsch
    • , Harald Binder
    • , Stephan Macher-Göppinger
    • , Hans Christian Probst
    • , Bin Tian
    • , Michael Schaefer
    • , Karl J. Lackner
    • , Frank Westermann
    •  & Sven Danckwardt
  • Article
    | Open Access

    The tuberculosis pandemic requires new methods for diagnosing and containing infections prior to active disease. Here, the authors performed a multi-site observational study within sub-Saharan Africa and present serum and plasma metabolic signatures that can predict the onset of active TB with a high degree of sensitivity and specificity.

    • January Weiner 3rd
    • , Jeroen Maertzdorf
    • , Jayne S. Sutherland
    • , Fergal J. Duffy
    • , Ethan Thompson
    • , Sara Suliman
    • , Gayle McEwen
    • , Bonnie Thiel
    • , Shreemanta K. Parida
    • , Joanna Zyla
    • , Willem A. Hanekom
    • , Robert P. Mohney
    • , W. Henry Boom
    • , Harriet Mayanja-Kizza
    • , Rawleigh Howe
    • , Hazel M. Dockrell
    • , Tom H. M. Ottenhoff
    • , Thomas J. Scriba
    • , Daniel E. Zak
    • , Gerhard Walzl
    • , Stefan H. E. Kaufmann
    • , Almaz Abebe
    • , Brian Abel
    • , Richard Adegbola
    • , Ifedayo Adetifa
    • , Lyn Ambrose
    • , Peter Andersen
    • , Martin Antonio
    • , Abraham Aseffa
    • , Debbie van Baarle
    • , Lew Barker
    • , Yonas Bekele
    • , Nicole Bilek
    • , Gillian F. Black
    • , Mark Bowmaker
    • , Keith Branson
    • , Michael Brennan
    • , Novel N. Chegou
    • , Femia Chilongo
    • , William Kwong Chung
    • , Tumani Corrah
    • , Ameilia C. Crampin
    • , Mark Doherty
    • , Gregory Dolganov
    • , Simon Donkor
    • , Katrina Downing
    • , Michelle Fisher
    • , Kees L. M. C. Franken
    • , Neil French
    • , Larry Geiter
    • , Annemieke Geluk
    • , Robert Golinski
    • , Patricia Gorak-Stolinska
    • , Marielle C. Haks
    • , Philip Hill
    • , Jane Hughes
    • , Yun-Gyoung Hur
    • , Rachel Iwnetu
    • , Marc Jacobson
    • , Moses Joloba
    • , Simone A. Joosten
    • , Benjamin Kagina
    • , Desta Kassa
    • , Hussein Kisingo
    • , Michel R. Klein
    • , Magdalena Kriel
    • , Maeve Lalor
    • , Ji-Sook Lee
    • , Andre G. Loxton
    • , Hassan Mahomed
    • , Krista E. van Meijgaarden
    • , Tsehayenesh Mesele
    • , Frank Miedema
    • , Adane Mihret
    • , Humphrey Mulenga
    • , Stefanie Muller
    • , Hazzie Mvula
    • , Nonhlanhla Nene
    • , Bagrey Ngwira
    • , Mary Nsereko
    • , Brenda Okwera
    • , Martin Ota
    • , Adam Penn-Nicholson
    • , Nelita Du Plessis
    • , S. Ramachandran
    • , Ida Rosenkrands
    • , Jerry Sadoff
    • , Jacky Saul
    • , Gary Schoolnik
    • , Felanji Simukonda
    • , Donata Sizemore
    • , Steven Smith
    • , Anne Ben Smith
    • , Gian van der Spuy
    • , Kim Stanley
    • , David Tabb
    • , Mesfin Tafesse
    • , Belete Tegbaru
    • , Toyin Togun
    • , Gerhardus Tromp
    • , Tran Van
    • , Kate Watkins
    • , Frank Weichold
    • , Karin Weldingh
    • , Lawrence Yamuah
    •  & Sarah Zalwango
  • Article
    | Open Access

    DNA methylation is an epigenetic modification that control genetic programs. Here, the authors found that the methylation landscape influences the physicochemical properties of DNA and that it can serve as a universal cancer biomarker, and developed a one-step assay for the detection of cancer DNA.

    • Abu Ali Ibn Sina
    • , Laura G. Carrascosa
    • , Ziyu Liang
    • , Yadveer S. Grewal
    • , Andri Wardiana
    • , Muhammad J. A. Shiddiky
    • , Robert A. Gardiner
    • , Hemamali Samaratunga
    • , Maher K. Gandhi
    • , Rodney J. Scott
    • , Darren Korbie
    •  & Matt Trau
  • Article
    | Open Access

    The methylation status of circulating cell-free DNA (cfDNA) can be informative about recent cell death events. Here the authors present an approach to determine the tissue origins of cfDNA, using a reference methylation atlas of 25 human tissues and cell types, and find that cfDNA from patients reveals tissue contributions that agree with clinical findings.

    • Joshua Moss
    • , Judith Magenheim
    • , Daniel Neiman
    • , Hai Zemmour
    • , Netanel Loyfer
    • , Amit Korach
    • , Yaacov Samet
    • , Myriam Maoz
    • , Henrik Druid
    • , Peter Arner
    • , Keng-Yeh Fu
    • , Endre Kiss
    • , Kirsty L. Spalding
    • , Giora Landesberg
    • , Aviad Zick
    • , Albert Grinshpun
    • , A. M. James Shapiro
    • , Markus Grompe
    • , Avigail Dreazan Wittenberg
    • , Benjamin Glaser
    • , Ruth Shemer
    • , Tommy Kaplan
    •  & Yuval Dor
  • Article
    | Open Access

    Accurate and actionable biomarkers that integrate diverse molecular, functional and clinical information hold great promise in precision medicine. Here, the authors develop SIMMS, a method for pathway-based cross-disease biomarker discovery.

    • Syed Haider
    • , Cindy Q. Yao
    • , Vicky S. Sabine
    • , Michal Grzadkowski
    • , Vincent Stimper
    • , Maud H. W. Starmans
    • , Jianxin Wang
    • , Francis Nguyen
    • , Nathalie C. Moon
    • , Xihui Lin
    • , Camilla Drake
    • , Cheryl A. Crozier
    • , Cassandra L. Brookes
    • , Cornelis J. H. van de Velde
    • , Annette Hasenburg
    • , Dirk G. Kieback
    • , Christos J. Markopoulos
    • , Luc Y. Dirix
    • , Caroline Seynaeve
    • , Daniel W. Rea
    • , Arek Kasprzyk
    • , Philippe Lambin
    • , Pietro Lio’
    • , John M. S. Bartlett
    •  & Paul C. Boutros
  • Article
    | Open Access

    Diagnostic tests need optimization to avoid invasive and costly repeated biopsies. Here the authors present an antibody-DNA barcoding approach where harvested single cells can be re-stained through custom oligonucleotide-fluorophore conjugates, enabling multiplexed analysis of cancer pathways.

    • Randy J. Giedt
    • , Divya Pathania
    • , Jonathan C. T. Carlson
    • , Philip J. McFarland
    • , Andres Fernandez del Castillo
    • , Dejan Juric
    •  & Ralph Weissleder
  • Article
    | Open Access

    FISH-based techniques to image and count mRNA in single cells can be limited by the photophysical properties of organic dyes. Here the authors develop photostable quantum dot FISH probes for multiplexed imaging.

    • Yang Liu
    • , Phuong Le
    • , Sung Jun Lim
    • , Liang Ma
    • , Suresh Sarkar
    • , Zhiyuan Han
    • , Stephen J. Murphy
    • , Farhad Kosari
    • , George Vasmatzis
    • , John C. Cheville
    •  & Andrew M. Smith
  • Article
    | Open Access

    The response to respiratory virus exposure can currently not be predicted by pre- or early post-exposure molecular signatures. Here, the authors conduct a community-based analysis of blood gene expression from healthy individuals exposed to respiratory viruses and provide predictive models and biological insight into the physiological response.

    • Slim Fourati
    • , Aarthi Talla
    • , Mehrad Mahmoudian
    • , Joshua G. Burkhart
    • , Riku Klén
    • , Ricardo Henao
    • , Thomas Yu
    • , Zafer Aydın
    • , Ka Yee Yeung
    • , Mehmet Eren Ahsen
    • , Reem Almugbel
    • , Samad Jahandideh
    • , Xiao Liang
    • , Torbjörn E. M. Nordling
    • , Motoki Shiga
    • , Ana Stanescu
    • , Robert Vogel
    • , Emna Ben Abdallah
    • , Farnoosh Abbas Aghababazadeh
    • , Alicia Amadoz
    • , Sherry Bhalla
    • , Kevin Bleakley
    • , Erika Bongen
    • , Domenico Borzacchielo
    • , Philipp Bucher
    • , Jose Carbonell-Caballero
    • , Kumardeep Chaudhary
    • , Francisco Chinesta
    • , Prasad Chodavarapu
    • , Ryan D Chow
    • , Thomas Cokelaer
    • , Cankut Cubuk
    • , Sandeep Kumar Dhanda
    • , Joaquin Dopazo
    • , Thomas Faux
    • , Yang Feng
    • , Christofer Flinta
    • , Carito Guziolowski
    • , Di He
    • , Marta R. Hidalgo
    • , Jiayi Hou
    • , Katsumi Inoue
    • , Maria K Jaakkola
    • , Jiadong Ji
    • , Ritesh Kumar
    • , Sunil Kumar
    • , Miron Bartosz Kursa
    • , Qian Li
    • , Michał Łopuszyński
    • , Pengcheng Lu
    • , Morgan Magnin
    • , Weiguang Mao
    • , Bertrand Miannay
    • , Iryna Nikolayeva
    • , Zoran Obradovic
    • , Chi Pak
    • , Mohammad M. Rahman
    • , Misbah Razzaq
    • , Tony Ribeiro
    • , Olivier Roux
    • , Ehsan Saghapour
    • , Harsh Saini
    • , Shamim Sarhadi
    • , Hiroki Sato
    • , Benno Schwikowski
    • , Alok Sharma
    • , Ronesh Sharma
    • , Deepak Singla
    • , Ivan Stojkovic
    • , Tomi Suomi
    • , Maria Suprun
    • , Chengzhe Tian
    • , Lewis E. Tomalin
    • , Lei Xie
    • , Xiang Yu
    • , Gaurav Pandey
    • , Christopher Chiu
    • , Micah T. McClain
    • , Christopher W. Woods
    • , Geoffrey S. Ginsburg
    • , Laura L. Elo
    • , Ephraim L. Tsalik
    • , Lara M. Mangravite
    •  & Solveig K. Sieberts
  • Article
    | Open Access

    Patients with myotonic dystrophy need to undergo invasive muscle biopsies to monitor disease progression and response to therapy. Here, the authors show that extracellular RNAs in human urine can be used as biomarkers to differentiate patients from unaffected controls, and to monitor exon skipping in patients with Duchenne muscular dystrophy taking the drug eteplirsen.

    • Layal Antoury
    • , Ningyan Hu
    • , Leonora Balaj
    • , Sudeshna Das
    • , Sofia Georghiou
    • , Basil Darras
    • , Tim Clark
    • , Xandra O. Breakefield
    •  & Thurman M. Wheeler
  • Article
    | Open Access

    Brain function alterations in schizophrenia and other psychotic disorders remain poorly understood. Here, the authors discover that increased neural connectivity in the cerebello-thalamo-cortical circuitry predicts psychosis in those at high risk, and is present in people with schizophrenia.

    • Hengyi Cao
    • , Oliver Y. Chén
    • , Yoonho Chung
    • , Jennifer K. Forsyth
    • , Sarah C. McEwen
    • , Dylan G. Gee
    • , Carrie E. Bearden
    • , Jean Addington
    • , Bradley Goodyear
    • , Kristin S. Cadenhead
    • , Heline Mirzakhanian
    • , Barbara A. Cornblatt
    • , Ricardo E. Carrión
    • , Daniel H. Mathalon
    • , Thomas H. McGlashan
    • , Diana O. Perkins
    • , Aysenil Belger
    • , Larry J. Seidman
    • , Heidi Thermenos
    • , Ming T. Tsuang
    • , Theo G. M. van Erp
    • , Elaine F. Walker
    • , Stephan Hamann
    • , Alan Anticevic
    • , Scott W. Woods
    •  & Tyrone D. Cannon
  • Article
    | Open Access

    People vary in the extent to which they feel better after taking an inert, placebo, treatment, but the basis for individual placebo response is unclear. Here, the authors show how brain structural and functional variables, as well as personality traits, predict placebo response in those with chronic back pain.

    • Etienne Vachon-Presseau
    • , Sara E. Berger
    • , Taha B. Abdullah
    • , Lejian Huang
    • , Guillermo A. Cecchi
    • , James W. Griffith
    • , Thomas J. Schnitzer
    •  & A. Vania Apkarian
  • Article
    | Open Access

    Upstream pathways regulating Brg1 stability and their role in carcinogenesis are unknown. Here they show Brg1 to be phosphorylated by CK1δ to promote its ubiquitination by SCFFBW7 (FBW7), Brg1 stabilization to promote gastric cancer metastasis, and suggest targeting Brg1 in FBW7 compromised gastric cancer.

    • Li-Yu Huang
    • , Junjie Zhao
    • , Hao Chen
    • , Lixin Wan
    • , Hiroyuki Inuzuka
    • , Jianping Guo
    • , Xuhong Fu
    • , Yangyang Zhai
    • , Zhaoning Lu
    • , Xuefei Wang
    • , Ze-Guang Han
    • , Yihong Sun
    •  & Wenyi Wei
  • Article
    | Open Access

    Biomarker identification requires prohibitively large cohorts with gene expression and phenotype data. The approach introduced here learns polygenic predictors of expression from genetic and expression data, used to infer biomarker levels in patients with genetic and disease information.

    • Jonathan D. Mosley
    • , QiPing Feng
    • , Quinn S. Wells
    • , Sara L. Van Driest
    • , Christian M. Shaffer
    • , Todd L. Edwards
    • , Lisa Bastarache
    • , Wei-Qi Wei
    • , Lea K. Davis
    • , Catherine A. McCarty
    • , Will Thompson
    • , Christopher G. Chute
    • , Gail P. Jarvik
    • , Adam S. Gordon
    • , Melody R. Palmer
    • , David R. Crosslin
    • , Eric B. Larson
    • , David S. Carrell
    • , Iftikhar J. Kullo
    • , Jennifer A. Pacheco
    • , Peggy L. Peissig
    • , Murray H. Brilliant
    • , James G. Linneman
    • , Bahram Namjou
    • , Marc S. Williams
    • , Marylyn D. Ritchie
    • , Kenneth M. Borthwick
    • , Shefali S. Verma
    • , Jason H. Karnes
    • , Scott T. Weiss
    • , Thomas J. Wang
    • , C. Michael Stein
    • , Josh C. Denny
    •  & Dan M. Roden
  • Article
    | Open Access

    Triple-negative breast cancer (TNBC) lacks prognostic and predictive markers. Here, the authors use phosphoproteomics to define kinases with distinct activity profiles in TNBC, demonstrating their prognostic value as well as their utility for simplifying TNBC classification and designing drug regimens.

    • Ivana Zagorac
    • , Sara Fernandez-Gaitero
    • , Renske Penning
    • , Harm Post
    • , Maria J. Bueno
    • , Silvana Mouron
    • , Luis Manso
    • , Manuel M. Morente
    • , Soledad Alonso
    • , Violeta Serra
    • , Javier Muñoz
    • , Gonzalo Gómez-López
    • , Jose Francisco Lopez-Acosta
    • , Veronica Jimenez-Renard
    • , Albert Gris-Oliver
    • , Fatima Al-Shahrour
    • , Elena Piñeiro-Yañez
    • , Jose Luis Montoya-Suarez
    • , Juan V. Apala
    • , Amalia Moreno-Torres
    • , Ramon Colomer
    • , Ana Dopazo
    • , Albert J. R. Heck
    • , Maarten Altelaar
    •  & Miguel Quintela-Fandino
  • Article
    | Open Access

    Little is known about the contribution of germline genetic variants to cancer drug sensitivity. Here, the authors devise an approach for joint analysis of germline variants and somatic mutations, identifying substantial germline contributions to variation in drug sensitivity.

    • Michael P. Menden
    • , Francesco Paolo Casale
    • , Johannes Stephan
    • , Graham R. Bignell
    • , Francesco Iorio
    • , Ultan McDermott
    • , Mathew J. Garnett
    • , Julio Saez-Rodriguez
    •  & Oliver Stegle