Literature DB >> 27405608

Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies.

Akira Gokoolparsadh1, Gavin J Sutton1, Alexiy Charamko1, Nicole F Oldham Green1, Christopher J Pardy1, Irina Voineagu2.   

Abstract

Autism spectrum disorder (ASD) is one of the most heritable neuropsychiatric conditions. The complex genetic landscape of the disorder includes both common and rare variants at hundreds of genetic loci. This marked heterogeneity has thus far hampered efforts to develop genetic diagnostic panels and targeted pharmacological therapies. Here, we give an overview of the current literature on the genetic basis of ASD, and review recent human brain transcriptome studies and their role in identifying convergent pathways downstream of the heterogeneous genetic variants. We also discuss emerging evidence on the involvement of non-coding genomic regions and non-coding RNAs in ASD.

Entities:  

Keywords:  Autism; Brain; Transcriptome

Mesh：

Substances：

Year:  2016        PMID： 27405608     DOI： 10.1007/s00018-016-2304-0

Source DB:  PubMed          Journal:  Cell Mol Life Sci        ISSN： 1420-682X            Impact factor:   9.261


  118 in total

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Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2010-11       Impact factor: 8.829

Review 2.  The role of long non-coding RNAs in neurodevelopment, brain function and neurological disease.

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3.  Detecting and characterizing circular RNAs.

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4.  Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

Authors:  Joseph T Glessner; Kai Wang; Guiqing Cai; Olena Korvatska; Cecilia E Kim; Shawn Wood; Haitao Zhang; Annette Estes; Camille W Brune; Jonathan P Bradfield; Marcin Imielinski; Edward C Frackelton; Jennifer Reichert; Emily L Crawford; Jeffrey Munson; Patrick M A Sleiman; Rosetta Chiavacci; Kiran Annaiah; Kelly Thomas; Cuiping Hou; Wendy Glaberson; James Flory; Frederick Otieno; Maria Garris; Latha Soorya; Lambertus Klei; Joseph Piven; Kacie J Meyer; Evdokia Anagnostou; Takeshi Sakurai; Rachel M Game; Danielle S Rudd; Danielle Zurawiecki; Christopher J McDougle; Lea K Davis; Judith Miller; David J Posey; Shana Michaels; Alexander Kolevzon; Jeremy M Silverman; Raphael Bernier; Susan E Levy; Robert T Schultz; Geraldine Dawson; Thomas Owley; William M McMahon; Thomas H Wassink; John A Sweeney; John I Nurnberger; Hilary Coon; James S Sutcliffe; Nancy J Minshew; Struan F A Grant; Maja Bucan; Edwin H Cook; Joseph D Buxbaum; Bernie Devlin; Gerard D Schellenberg; Hakon Hakonarson
Journal:  Nature       Date:  2009-04-28       Impact factor: 49.962

Review 5.  RNA-Seq: a revolutionary tool for transcriptomics.

Authors:  Zhong Wang; Mark Gerstein; Michael Snyder
Journal:  Nat Rev Genet       Date:  2009-01       Impact factor: 53.242

6.  Circular intronic long noncoding RNAs.

Authors:  Yang Zhang; Xiao-Ou Zhang; Tian Chen; Jian-Feng Xiang; Qing-Fei Yin; Yu-Hang Xing; Shanshan Zhu; Li Yang; Ling-Ling Chen
Journal:  Mol Cell       Date:  2013-09-12       Impact factor: 17.970

Review 7.  Global prevalence of autism and other pervasive developmental disorders.

Authors:  Mayada Elsabbagh; Gauri Divan; Yun-Joo Koh; Young Shin Kim; Shuaib Kauchali; Carlos Marcín; Cecilia Montiel-Nava; Vikram Patel; Cristiane S Paula; Chongying Wang; Mohammad Taghi Yasamy; Eric Fombonne
Journal:  Autism Res       Date:  2012-04-11       Impact factor: 5.216

8.  Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Authors:  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 Thompson; Regina Regan; Marion Pilorge; Giovanna Pellecchia; Alistair T Pagnamenta; Bárbara Oliveira; Christian R Marshall; Tiago R Magalhaes; Jennifer K Lowe; Jennifer L Howe; Anthony J Griswold; John Gilbert; Eftichia Duketis; Beth A Dombroski; Maretha V De Jonge; Michael Cuccaro; Emily L Crawford; Catarina T Correia; Judith Conroy; Inês 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 Rogé; Wendy Roberts; Fritz Poustka; Susana Mouga; Nancy Minshew; L Alison McInnes; Susan G McGrew; Catherine Lord; Marion Leboyer; Ann S Le Couteur; Alexander Kolevzon; Patricia Jiménez González; Suma Jacob; Richard Holt; Stephen 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 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
Journal:  Am J Hum Genet       Date:  2014-04-24       Impact factor: 11.025

9.  Tissue-specific RNA expression marks distant-acting developmental enhancers.

Authors:  Han Wu; Alex S Nord; Jennifer A Akiyama; Malak Shoukry; Veena Afzal; Edward M Rubin; Len A Pennacchio; Axel Visel
Journal:  PLoS Genet       Date:  2014-09-04       Impact factor: 5.917

10.  Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

Authors:  Brian J O'Roak; Pelagia Deriziotis; Choli Lee; Laura Vives; Jerrod J Schwartz; Santhosh Girirajan; Emre Karakoc; Alexandra P Mackenzie; Sarah B Ng; Carl Baker; Mark J Rieder; Deborah A Nickerson; Raphael Bernier; Simon E Fisher; Jay Shendure; Evan E Eichler
Journal:  Nat Genet       Date:  2011-05-15       Impact factor: 38.330
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  10 in total

1.  Epigenetic regulation of RELN and GAD1 in the frontal cortex (FC) of autism spectrum disorder (ASD) subjects.

Authors:  Adrian Zhubi; Ying Chen; Alessandro Guidotti; Dennis R Grayson
Journal:  Int J Dev Neurosci       Date:  2017-02-14       Impact factor: 2.457

2.  Morphometric analysis and neuroanatomical mapping of the zebrafish brain.

Authors:  Tripti Gupta; Gregory D Marquart; Eric J Horstick; Kathryn M Tabor; Sinisa Pajevic; Harold A Burgess
Journal:  Methods       Date:  2018-06-21       Impact factor: 3.608

3.  Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder.

Authors:  Matilde Cirnigliaro; Cristina Barbagallo; Mariangela Gulisano; Carla N Domini; Rita Barone; Davide Barbagallo; Marco Ragusa; Cinzia Di Pietro; Renata Rizzo; Michele Purrello
Journal:  Front Mol Neurosci       Date:  2017-08-10       Impact factor: 5.639

4.  Hierarchical cortical transcriptome disorganization in autism.

Authors:  Michael V Lombardo; Eric Courchesne; Nathan E Lewis; Tiziano Pramparo
Journal:  Mol Autism       Date:  2017-06-21       Impact factor: 7.509

5.  The EU-AIMS Longitudinal European Autism Project (LEAP): clinical characterisation.

Authors:  Tony Charman; Eva Loth; Julian Tillmann; Daisy Crawley; Caroline Wooldridge; David Goyard; Jumana Ahmad; Bonnie Auyeung; Sara Ambrosino; Tobias Banaschewski; Simon Baron-Cohen; Sarah Baumeister; Christian Beckmann; Sven Bölte; Thomas Bourgeron; Carsten Bours; Michael Brammer; Daniel Brandeis; Claudia Brogna; Yvette de Bruijn; Bhismadev Chakrabarti; Ineke Cornelissen; Flavio Dell' Acqua; Guillaume Dumas; Sarah Durston; Christine Ecker; Jessica Faulkner; Vincent Frouin; Pilar Garcés; Lindsay Ham; Hannah Hayward; Joerg Hipp; Rosemary J Holt; Johan Isaksson; Mark H Johnson; Emily J H Jones; Prantik Kundu; Meng-Chuan Lai; Xavier Liogier D'ardhuy; Michael V Lombardo; David J Lythgoe; René Mandl; Luke Mason; Andreas Meyer-Lindenberg; Carolin Moessnang; Nico Mueller; Laurence O'Dwyer; Marianne Oldehinkel; Bob Oranje; Gahan Pandina; Antonio M Persico; Barbara Ruggeri; Amber N V Ruigrok; Jessica Sabet; Roberto Sacco; Antonia San Jóse Cáceres; Emily Simonoff; Roberto Toro; Heike Tost; Jack Waldman; Steve C R Williams; Marcel P Zwiers; Will Spooren; Declan G M Murphy; Jan K Buitelaar
Journal:  Mol Autism       Date:  2017-06-23       Impact factor: 7.509

6.  Study protocol of the ASD-Net, the German research consortium for the study of Autism Spectrum Disorder across the lifespan: from a better etiological understanding, through valid diagnosis, to more effective health care.

Authors:  Inge Kamp-Becker; Luise Poustka; Christian Bachmann; Stefan Ehrlich; Falk Hoffmann; Philipp Kanske; Peter Kirsch; Sören Krach; Frieder Michel Paulus; Marcella Rietschel; Stefan Roepke; Veit Roessner; Tanja Schad-Hansjosten; Tania Singer; Sanna Stroth; Stephanie Witt; Anne-Kathrin Wermter
Journal:  BMC Psychiatry       Date:  2017-06-02       Impact factor: 3.630

7.  NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice.

Authors:  Joanna Szczurkowska; Francesca Pischedda; Bruno Pinto; Francesca Managò; Carola A Haas; Maria Summa; Rosalia Bertorelli; Francesco Papaleo; Michael K Schäfer; Giovanni Piccoli; Laura Cancedda
Journal:  Brain       Date:  2018-09-01       Impact factor: 13.501

8.  Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.

Authors:  James D Mills; Anand M Iyer; Jackelien van Scheppingen; Anika Bongaarts; Jasper J Anink; Bart Janssen; Till S Zimmer; Wim G Spliet; Peter C van Rijen; Floor E Jansen; Martha Feucht; Johannes A Hainfellner; Pavel Krsek; Josef Zamecnik; Katarzyna Kotulska; Sergiusz Jozwiak; Anna Jansen; Lieven Lagae; Paolo Curatolo; David J Kwiatkowski; R Jeroen Pasterkamp; Ketharini Senthilkumar; Lars von Oerthel; Marco F Hoekman; Jan A Gorter; Peter B Crino; Angelika Mühlebner; Brendon P Scicluna; Eleonora Aronica
Journal:  Sci Rep       Date:  2017-08-14       Impact factor: 4.996

9.  Potential Associations Among Alteration of Salivary miRNAs, Saliva Microbiome Structure, and Cognitive Impairments in Autistic Children.

Authors:  Marco Ragusa; Maria Santagati; Federica Mirabella; Giovanni Lauretta; Matilde Cirnigliaro; Duilia Brex; Cristina Barbagallo; Carla Noemi Domini; Mariangela Gulisano; Rita Barone; Laura Trovato; Salvatore Oliveri; Gino Mongelli; Ambra Spitale; Davide Barbagallo; Cinzia Di Pietro; Stefania Stefani; Renata Rizzo; Michele Purrello
Journal:  Int J Mol Sci       Date:  2020-08-27       Impact factor: 5.923

10.  Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.

Authors:  K Griesi-Oliveira; M S Fogo; B G G Pinto; A Y Alves; A M Suzuki; A G Morales; S Ezquina; O J Sosa; G J Sutton; D Y Sunaga-Franze; A P Bueno; G Seabra; L Sardinha; S S Costa; C Rosenberg; E C Zachi; A L Sertie; D Martins-de-Souza; E M Reis; I Voineagu; M R Passos-Bueno
Journal:  Mol Psychiatry       Date:  2020-02-14       Impact factor: 15.992
  10 in total

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