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- Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014)
- Dalila Pinto Elsa Delaby Daniele Merico Mafalda Barbosa Alison Merikangas Lambertus Klei Bhooma Thiruvahindrapuram Xiao Xu Robert Ziman Zhuozhi Wang Jacob A. S. Vorstman Ann P. Thompson Regina Regan Marion Pilorge Giovanna Pellecchia Alistair T. Pagnamenta Bárbara Oliveira Christian R. Marshall Tiago R. Magalhães Jennifer K. Lowe Jennifer L. Howe Anthony J. Griswold John Gilbert Eftichia Duketis Beth A. Dombroski Maretha de Jonge Michael L. Cuccaro Emily L. Crawford Catarina T. Correia Judith Conroy Inȇs C. Conceição Andreas G. Chiocchetti Jillian P. Casey Guiqing Cai Christelle Cabrol Nadia Bolshakova Elena Bacchelli Richard Anney Steven Gallinger Michelle Cotterchio Graham Casey Lonnie Zwaigenbaum Kerstin Wittemeyer Kirsty Wing Simon Wallace Herman van Engeland Ana Tryfon Susanne Thomson Latha Soorya Bernadette Roge Wendy Roberts Fritz Poustka Susana Mouga Nancy J. Minshew L. Alison McInnes Susan G. McGrew Catherine Lord Marion Leboyer Ann Le Couteur Alexander Kolevzon Patricia Jiménez González Suma Jacob Richard Holt Stephen J. Guter Jonathan Green Andrew Green Christopher Gillberg Bridget A. Fernandez Frederico Duque Richard Delorme Geraldine Dawson Pauline Chaste Cátia Café Sean Brennan Thomas Bourgeron Patrick F. Bolton Sven Bölte Raphael Bernier Gillian Baird Anthony J. Bailey Evdokia Anagnostou Joana Almeida Ellen M. Wijsman Veronica J. Vieland Astrid M. Vicente Gerard D. Schellenberg Margaret Ann Pericak-Vance Andrew D. Paterson Jeremy R. Parr Guiomar Oliveira John I. Nurnberger Anthony P. Monaco Elena Maestrini Sabine M. Klauck Hakon Hakonarson Jonathan L. Haines Daniel H. Geschwind Christine M. Freitag Susan E. Folstein Sean Ennis Hilary Coon Agatino Battaglia Peter Szatmari James S. Sutcliffe Joachim Hallmayer Michael Gill Edwin H. Cook Joseph D. Buxbaum Bernie Devlin Louise Gallagher Catalina Betancur Stephen W. Scherer
- Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.
- Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease (2014)
- Valentina Escott-Price Céline Bellenguez Li-San Wang Seung-Hoan Choi Denise Harold Lesley Jones Peter Holmans Amy Gerrish Alexey Vedernikov Alexander Richards Anita L. DeStefano Jean-Charles Lambert Carla A. Ibrahim-Verbaas Adam C. Naj Rebecca Sims Gyungah Jun Joshua C. Bis Gary W. Beecham Benjamin Grenier-Boley Giancarlo Russo Tricia A. Thornton-Wells Nicola Denning Albert V. Smith Vincent Chouraki Charlene Thomas M. Arfan Ikram Diana Zelenika Badri N. Vardarajan Yoichiro Kamatani Chiao-Feng Lin Helena Schmidt Brian Kunkle Melanie L. Dunstan Maria Vronskaya Andrew D. Johnson Agustin Ruiz Marie-Thérèse Bihoreau Christiane Reitz Florence Pasquier Paul Hollingworth Olivier Hanon Annette L. Fitzpatrick Joseph D. Buxbaum Dominique Campion Paul K. Crane Clinton Baldwin Tim Becker Vilmundur Gudnason Carlos Cruchaga David Craig Najaf Amin Claudine Berr Oscar L. Lopez Philip L. De Jager Vincent Deramecourt Janet A. Johnston Denis Evans Simon Lovestone Luc Letenneur Isabel Hernández David C. Rubinsztein Gudny Eiriksdottir Kristel Sleegers Alison M. Goate Nathalie Fiévet Matthew J. Huentelman Michael Gill Kristelle Brown M. Ilyas Kamboh Lina Keller Pascale Barberger-Gateau Bernadette McGuinness Eric B. Larson Amanda J. Myers Carole Dufouil Stephen Todd David Wallon Seth Love Ekaterina Rogaeva John Gallacher Peter St George-Hyslop Jordi Clarimon Alberto Lleo Anthony Bayer Debby W. Tsuang Lei Yu Magda Tsolaki Paola Bossù Gianfranco Spalletta Petra Proitsi John Collinge Sandro Sorbi Florentino Sanchez Garcia Nick C. Fox John Hardy Maria Candida Deniz Naranjo Paolo Bosco Robert Clarke Carol Brayne Daniela Galimberti Elio Scarpini Ubaldo Bonuccelli Michelangelo Mancuso Gabriele Siciliano Susanne Moebus Patrizia Mecocci Maria Del Zompo Wolfgang Maier Harald Hampel Alberto Pilotto Ana Frank-García Francesco Panza Vincenzo Solfrizzi Paolo Caffarra Benedetta Nacmias William Perry Manuel Mayhaus Lars Lannfelt Hakon Hakonarson Sabrina Pichler Minerva M. Carrasquillo Martin Ingelsson Duane Beekly Victoria Alvarez Fanggeng Zou Otto Valladares Steven G. Younkin Eliecer Coto Kara L. Hamilton-Nelson Wei Gu Cristina Razquin Pau Pastor Ignacio Mateo Michael J. Owen Kelley M. Faber Palmi V. Jonsson Onofre Combarros Michael C. O'Donovan Laura B. Cantwell Hilkka Soininen Deborah Blacker Simon Mead Thomas H. Mosley David A. Bennett Tamara B. Harris Laura Fratiglioni Clive Holmes Renee F. A. G. de Bruijn Peter Passmore Thomas J. Montine Karolien Bettens Jerome I. Rotter Alexis Brice Kevin Morgan Tatiana M. Foroud Walter A. Kukull Didier Hannequin John F. Powell Michael A. Nalls Karen Ritchie Kathryn L. Lunetta John S. K. Kauwe Eric Boerwinkle Matthias Riemenschneider Mercè Boada Mikko Hiltunen Eden R. Martin Reinhold Schmidt Dan Rujescu Jean-François Dartigues Richard Mayeux Christophe Tzourio Albert Hofman Markus Maria Nöthen Caroline Graff Bruce M. Psaty Jonathan L. Haines Mark Lathrop Margaret Ann Pericak-Vance Lenore J. Launer Christine Van Broeckhoven Lindsay A. Farrer Cornelia M. van Duijn Alfredo Ramirez Sudha Seshadri Gerard D. Schellenberg Philippe Amouyel Julie Williams
- Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4×10−6) and 14 (IGHV1-67 p = 7.9×10−8) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
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