Literature DB >> 18179879

Unraveling autism.

Dietrich A Stephan1.   

Abstract

In this issue of AJHG, Alarcón et al.,(1) Arking et al.,(2) and Bakkaloglu et al.(3) identify a series of functional variants in the CNTNAP2 gene that unequivocally implicate this gene as causing Type 1 autism in the general population.

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Year:  2008        PMID： 18179879      PMCID： PMC2253980          DOI： 10.1016/j.ajhg.2007.12.003

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  9 in total

1.  Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Authors:  Stéphane Jamain; Hélène Quach; Catalina Betancur; Maria Råstam; Catherine Colineaux; I Carina Gillberg; Henrik Soderstrom; Bruno Giros; Marion Leboyer; Christopher Gillberg; Thomas Bourgeron
Journal:  Nat Genet       Date:  2003-05       Impact factor: 38.330

2.  Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

Authors:  Christelle M Durand; Catalina Betancur; Tobias M Boeckers; Juergen Bockmann; Pauline Chaste; Fabien Fauchereau; Gudrun Nygren; Maria Rastam; I Carina Gillberg; Henrik Anckarsäter; Eili Sponheim; Hany Goubran-Botros; Richard Delorme; Nadia Chabane; Marie-Christine Mouren-Simeoni; Philippe de Mas; Eric Bieth; Bernadette Rogé; Delphine Héron; Lydie Burglen; Christopher Gillberg; Marion Leboyer; Thomas Bourgeron
Journal:  Nat Genet       Date:  2006-12-17       Impact factor: 38.330

3.  Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.

Authors:  Kevin A Strauss; Erik G Puffenberger; Matthew J Huentelman; Steven Gottlieb; Seth E Dobrin; Jennifer M Parod; Dietrich A Stephan; D Holmes Morton
Journal:  N Engl J Med       Date:  2006-03-30       Impact factor: 91.245

4.  Contribution of SHANK3 mutations to autism spectrum disorder.

Authors:  Rainald Moessner; Christian R Marshall; James S Sutcliffe; Jennifer Skaug; Dalila Pinto; John Vincent; Lonnie Zwaigenbaum; Bridget Fernandez; Wendy Roberts; Peter Szatmari; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2007-10-16       Impact factor: 11.025

Review 5.  The Autism Genome Project: goals and strategies.

Authors:  Diane Hu-Lince; David W Craig; Matthew J Huentelman; Dietrich A Stephan
Journal:  Am J Pharmacogenomics       Date:  2005

6.  Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

Authors:  Maricela Alarcón; Brett S Abrahams; Jennifer L Stone; Jacqueline A Duvall; Julia V Perederiy; Jamee M Bomar; Jonathan Sebat; Michael Wigler; Christa L Martin; David H Ledbetter; Stanley F Nelson; Rita M Cantor; Daniel H Geschwind
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

7.  A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.

Authors:  Dan E Arking; David J Cutler; Camille W Brune; Tanya M Teslovich; Kristen West; Morna Ikeda; Alexis Rea; Moltu Guy; Shin Lin; Edwin H Cook; Aravinda Chakravarti
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

8.  Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.

Authors:  Betul Bakkaloglu; Brian J O'Roak; Angeliki Louvi; Abha R Gupta; Jesse F Abelson; Thomas M Morgan; Katarzyna Chawarska; Ami Klin; A Gulhan Ercan-Sencicek; Althea A Stillman; Gamze Tanriover; Brett S Abrahams; Jackie A Duvall; Elissa M Robbins; Daniel H Geschwind; Thomas Biederer; Murat Gunel; Richard P Lifton; Matthew W State
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

9.  Absence of coding mutations in the X-linked genes neuroligin 3 and neuroligin 4 in individuals with autism from the IMGSAC collection.

Authors:  Francesca Blasi; Elena Bacchelli; Giulia Pesaresi; Simona Carone; Anthony J Bailey; Elena Maestrini
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2006-04-05       Impact factor: 3.568
  9 in total
  9 in total

1.  Pharmacological probing of type 1 autism.

Authors:  Hari Manev; Radmila Manev
Journal:  J Autism Dev Disord       Date:  2008-05-30

2.  Genetic determinants of autism in individuals with deletions of 18q.

Authors:  Louise O'Donnell; Bridgette Soileau; Patricia Heard; Erika Carter; Courtney Sebold; Jon Gelfond; Daniel E Hale; Jannine D Cody
Journal:  Hum Genet       Date:  2010-05-25       Impact factor: 4.132

3.  Autism and increased paternal age related changes in global levels of gene expression regulation.

Authors:  Mark D Alter; Rutwik Kharkar; Keri E Ramsey; David W Craig; Raun D Melmed; Theresa A Grebe; R Curtis Bay; Sharman Ober-Reynolds; Janet Kirwan; Josh J Jones; J Blake Turner; Rene Hen; Dietrich A Stephan
Journal:  PLoS One       Date:  2011-02-17       Impact factor: 3.240

Review 4.  Molecular genetics of addiction and related heritable phenotypes: genome-wide association approaches identify "connectivity constellation" and drug target genes with pleiotropic effects.

Authors:  George R Uhl; Tomas Drgon; Catherine Johnson; Chuan-Yun Li; Carlo Contoreggi; Judith Hess; Daniel Naiman; Qing-Rong Liu
Journal:  Ann N Y Acad Sci       Date:  2008-10       Impact factor: 5.691

5.  Meta-analysis of genome-wide linkage scans of attention deficit hyperactivity disorder.

Authors:  Kaixin Zhou; Astrid Dempfle; Mauricio Arcos-Burgos; Steven C Bakker; Tobias Banaschewski; Joseph Biederman; Jan Buitelaar; F Xavier Castellanos; Alysa Doyle; Richard P Ebstein; Jenny Ekholm; Paola Forabosco; Barbara Franke; Christine Freitag; Susann Friedel; Michael Gill; Johannes Hebebrand; Anke Hinney; Christian Jacob; Klaus Peter Lesch; Sandra K Loo; Francisco Lopera; James T McCracken; James J McGough; Jobst Meyer; Eric Mick; Ana Miranda; Maximilian Muenke; Fernando Mulas; Stanley F Nelson; T Trang Nguyen; Robert D Oades; Matthew N Ogdie; Juan David Palacio; David Pineda; Andreas Reif; Tobias J Renner; Herbert Roeyers; Marcel Romanos; Aribert Rothenberger; Helmut Schäfer; Joseph Sergeant; Richard J Sinke; Susan L Smalley; Edmund Sonuga-Barke; Hans-Christoph Steinhausen; Emma van der Meulen; Susanne Walitza; Andreas Warnke; Cathryn M Lewis; Stephen V Faraone; Philip Asherson
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2008-12-05       Impact factor: 3.568

Review 6.  Genes and vocal learning.

Authors:  Stephanie A White
Journal:  Brain Lang       Date:  2009-11-13       Impact factor: 2.381

Review 7.  Addiction genetics and pleiotropic effects of common haplotypes that make polygenic contributions to vulnerability to substance dependence.

Authors:  George R Uhl; Tomas Drgon; Catherine Johnson; Qing-Rong Liu
Journal:  J Neurogenet       Date:  2009-01-19       Impact factor: 1.250

Review 8.  GABA system dysfunction in autism and related disorders: from synapse to symptoms.

Authors:  Suzanne Coghlan; Jamie Horder; Becky Inkster; M Andreina Mendez; Declan G Murphy; David J Nutt
Journal:  Neurosci Biobehav Rev       Date:  2012-07-25       Impact factor: 8.989

Review 9.  Current Enlightenment About Etiology and Pharmacological Treatment of Autism Spectrum Disorder.

Authors:  Nermin Eissa; Mohammed Al-Houqani; Adel Sadeq; Shreesh K Ojha; Astrid Sasse; Bassem Sadek
Journal:  Front Neurosci       Date:  2018-05-16       Impact factor: 4.677
  9 in total

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