Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. (Q30362862)

15 September 2017

Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. (English)

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15 September 2017

autism spectrum disorder

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author

Thomas V. Fernandez

5

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15 September 2017

16

Pietro De Camilli

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15 September 2017

Jeremy M Baskin

6

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Lambertus Klei

11

object named as

Lambertus Klei

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15 September 2017

18

Nenad Sestan

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15 September 2017

14

Mark J Daly

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15 September 2017

12

Benjamin M Neale

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15 September 2017

15

Richard P Lifton

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15 September 2017

Abha R Gupta

1

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15 September 2017

Michelle Pirruccello

2

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15 September 2017

Feng Cheng

3

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15 September 2017

Hyo Jung Kang

4

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15 September 2017

Murim Choi

7

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15 September 2017

Li Liu

8

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15 September 2017

Adife Gulhan Ercan-Sencicek

9

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15 September 2017

John D Murdoch

10

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15 September 2017

Daniel Franjic

13

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15 September 2017

Hongyu Zhao

17

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15 September 2017

Matthew W State

19

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15 September 2017

29 April 2014

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15 September 2017

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15 September 2017

5

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15 September 2017

31

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Structural Insights into Assembly and Regulation of the Plasma Membrane Phosphatidylinositol 4-Kinase Complex

15 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

PI4P and PI(4,5)P 2 Are Essential But Independent Lipid Determinants of Membrane Identity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

De Novo Gene Disruptions in Children on the Autistic Spectrum

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Patterns and rates of exonic de novo mutations in autism spectrum disorders

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Prevalence of autism spectrum disorders--Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Differential confounding of rare and common variants in spatially structured populations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Spatio-temporal transcriptome of the human brain

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Structural basis for activation and inhibition of class I phosphoinositide 3-kinases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

A new synaptic player leading to autism risk: Met receptor tyrosine kinase

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Phylogenomics of phosphoinositide lipid kinases: perspectives on the evolution of second messenger signaling and drug discovery

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

The Genetics of Child Psychiatric Disorders: Focus on Autism and Tourette Syndrome

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Single-nucleotide evolutionary constraint scores highlight disease-causing mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Detection of nonneutral substitution rates on mammalian phylogenies

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Assembly of the PtdIns 4-kinase Stt4 complex at the plasma membrane requires Ypp1 and Efr3.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Reversal of learning deficits in a Tsc2 /- mouse model of tuberous sclerosis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Targeting phosphoinositide 3-kinase: moving towards therapy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Phosphoinositides in cell regulation and membrane dynamics

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Impaired PtdIns(4,5)P2 synthesis in nerve terminals produces defects in synaptic vesicle trafficking

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4032628

Rolling blackout, a newly identified PIP2-DAG pathway lipase required for Drosophila phototransduction.

3 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/2040-2392-5-31

Rolling blackout is required for synaptic vesicle exocytosis.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/2040-2392-5-31

Autism and tuberous sclerosis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186/2040-2392-5-31

21 January 2018

Identifiers

DOI

10.1186/2040-2392-5-31

1 reference

Dimensions Publication ID

15 September 2017

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/2040-2392-5-31

1 reference

15 September 2017

PubMed publication ID

24860643

1 reference