Literature DB >> 14627686

Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism.

F J Serajee, R Nabi, H Zhong, A H M Mahbubul Huq.   

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Year:  2003        PMID： 14627686      PMCID： PMC1735327          DOI： 10.1136/jmg.40.11.e119

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  22 in total

1.  The metabotropic glutamate receptor activates the lipid kinase PI3K in Drosophila motor neurons through the calcium/calmodulin-dependent protein kinase II and the nonreceptor tyrosine protein kinase DFak.

Authors:  Curtis Chun-Jen Lin; James B Summerville; Eric Howlett; Michael Stern
Journal:  Genetics       Date:  2011-04-21       Impact factor: 4.562

2.  A null mutation in VAMP1/synaptobrevin is associated with neurological defects and prewean mortality in the lethal-wasting mouse mutant.

Authors:  Arne M Nystuen; Jamie K Schwendinger; Andrew J Sachs; Andy W Yang; Neena B Haider
Journal:  Neurogenetics       Date:  2006-11-11       Impact factor: 2.660

Review 3.  Defective phosphoinositide metabolism in autism.

Authors:  Christina Gross
Journal:  J Neurosci Res       Date:  2016-07-04       Impact factor: 4.164

4.  MECP2 Is a Frequently Amplified Oncogene with a Novel Epigenetic Mechanism That Mimics the Role of Activated RAS in Malignancy.

Authors:  Manish Neupane; Allison P Clark; Serena Landini; Nicolai J Birkbak; Aron C Eklund; Elgene Lim; Aedin C Culhane; William T Barry; Steven E Schumacher; Rameen Beroukhim; Zoltan Szallasi; Marc Vidal; David E Hill; Daniel P Silver
Journal:  Cancer Discov       Date:  2015-11-06       Impact factor: 39.397

Review 5.  The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders.

Authors:  Pat Levitt; Daniel B Campbell
Journal:  J Clin Invest       Date:  2009-04-01       Impact factor: 14.808

6.  Tuberous sclerosis complex: everything old is new again.

Authors:  Kevin C Ess
Journal:  J Neurodev Disord       Date:  2009-05-06       Impact factor: 4.025

7.  A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism.

Authors:  John P Hussman; Ren-Hua Chung; Anthony J Griswold; James M Jaworski; Daria Salyakina; Deqiong Ma; Ioanna Konidari; Patrice L Whitehead; Jeffery M Vance; Eden R Martin; Michael L Cuccaro; John R Gilbert; Jonathan L Haines; Margaret A Pericak-Vance
Journal:  Mol Autism       Date:  2011-01-19       Impact factor: 7.509

8.  Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.

Authors:  Christian P Schaaf; Aniko Sabo; Yasunari Sakai; Jacy Crosby; Donna Muzny; Alicia Hawes; Lora Lewis; Humeira Akbar; Robin Varghese; Eric Boerwinkle; Richard A Gibbs; Huda Y Zoghbi
Journal:  Hum Mol Genet       Date:  2011-05-30       Impact factor: 6.150

9.  Proteomic studies of a single CNS synapse type: the parallel fiber/purkinje cell synapse.

Authors:  Fekrije Selimi; Ileana M Cristea; Elizabeth Heller; Brian T Chait; Nathaniel Heintz
Journal:  PLoS Biol       Date:  2009-04-14       Impact factor: 8.029

10.  Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

Authors:  Ivon Cuscó; Andrés Medrano; Blanca Gener; Mireia Vilardell; Fátima Gallastegui; Olaya Villa; Eva González; Benjamín Rodríguez-Santiago; Elisabet Vilella; Miguel Del Campo; Luis A Pérez-Jurado
Journal:  Hum Mol Genet       Date:  2009-02-26       Impact factor: 6.150
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