Recessive gene disruptions in autism spectrum disorder (Q92826892)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31209396 AND SRC:MED&resulttype=core&format=json

2 May 2020

title

Recessive gene disruptions in autism spectrum disorder (English)

1 reference

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2 May 2020

main subject

autism spectrum disorder

1 reference

2

1 reference

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2 May 2020

Catalina Betancur

4

1 reference

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2 May 2020

Aubrie Soucy

8

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2 May 2020

Mark Joseph Daly

12

1 reference

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2 May 2020

Christopher A. Walsh

13

1 reference

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2 May 2020

Joseph Buxbaum

14

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2 May 2020

Timothy W Yu

15

1 reference

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Autism Sequencing Consortium

2 May 2020

10

object named as

Autism Sequencing Consortium

1 reference

2 May 2020

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Andreas G Chiocchetti

6

object named as

Andreas G Chiocchetti

1 reference

2 May 2020

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Ryan N Doan

1

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2 May 2020

Silvia De Rubeis

3

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2 May 2020

David J Cutler

5

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2 May 2020

Lynne M Overman

7

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2 May 2020

Susanne Goetze

9

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2 May 2020

Christine M Freitag

11

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2 May 2020

publication date

17 June 2019

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2 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31209396 AND SRC:MED&resulttype=core&format=json

2 May 2020

volume

51

1 reference

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2 May 2020

issue

7

1 reference

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2 May 2020

page(s)

1092-1098

1 reference

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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

2 May 2020

cites work

1 reference

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The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

11 February 2021

1 reference

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Analysis of protein-coding genetic variation in 60,706 humans

11 February 2021

1 reference

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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

11 February 2021

1 reference

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The Hippo Pathway Regulates Neuroblasts and Brain Size in Drosophila melanogaster

11 February 2021

1 reference

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Drosophila Homolog of Human KIF22 at the Autism-Linked 16p11.2 Loci Influences Synaptic Connectivity at Larval Neuromuscular Junctions

11 February 2021

1 reference

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The serotonin system in autism spectrum disorder: From biomarker to animal models

11 February 2021

1 reference

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Enabling research with human embryonic and fetal tissue resources.

11 February 2021

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Excess of rare, inherited truncating mutations in autism

11 February 2021

1 reference

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Synaptic, transcriptional and chromatin genes disrupted in autism

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Most genetic risk for autism resides with common variation

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

The role of de novo mutations in the genetics of autism spectrum disorders

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Changes in the expression of the glutamate transporter EAAT3/EAAC1 in health and disease

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

FCHSD1 and FCHSD2 are expressed in hair cell stereocilia and cuticular plate and regulate actin polymerization in vitro

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Examining and interpreting the female protective effect against autistic behavior

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Using whole-exome sequencing to identify inherited causes of autism

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

De Novo Gene Disruptions in Children on the Autistic Spectrum

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

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

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Effects of isoflurane on learning and memory functions of wild-type and glutamate transporter type 3 knockout mice

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Predicting the functional impact of protein mutations: application to cancer genomics

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

mRNA for the EAAC1 subtype of glutamate transporter is present in neuronal dendrites in vitro and dramatically increases in vivo after a seizure

11 February 2021

1 reference

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Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

11 February 2021

1 reference

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Loss-of-function mutations in the glutamate transporter SLC1A1 cause human dicarboxylic aminoaciduria

11 February 2021

1 reference

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The HUDSEN Atlas: a three-dimensional (3D) spatial framework for studying gene expression in the developing human brain.

11 February 2021

1 reference

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Characterising and predicting haploinsufficiency in the human genome.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Pet-1 is required across different stages of life to regulate serotonergic function.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

MutationTaster evaluates disease-causing potential of sequence alterations

11 February 2021

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

11 February 2021

1 reference

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A method and server for predicting damaging missense mutations

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Neuronal transporters regulate glutamate clearance, NMDA receptor activation, and synaptic plasticity in the hippocampus

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Identification of deleterious mutations within three human genomes

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Glutamate spillover augments GABA synthesis and release from axodendritic synapses in rat hippocampus

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Identifying autism loci and genes by tracing recent shared ancestry

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

The neuronal excitatory amino acid transporter EAAC1/EAAT3: does it represent a major actor at the brain excitatory synapse?

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Regional distribution and cellular localization of the ETS-domain transcription factor, FEV, mRNA in the human postmortem brain

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

The Ets transcription factor Fev is specifically expressed in the human central serotonergic neurons.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

SIFT: Predicting amino acid changes that affect protein function

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Neuronal glutamate uptake Contributes to GABA synthesis and inhibitory synaptic strength.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Pet-1 ETS gene plays a critical role in 5-HT neuron development and is required for normal anxiety-like and aggressive behavior.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

ERAP140, a conserved tissue-specific nuclear receptor coactivator

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Neuronal glutamate transporters limit activation of NMDA receptors by neurotransmitter spillover on CA1 pyramidal cells.

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

The ETS domain factor Pet-1 is an early and precise marker of central serotonin neurons and interacts with a conserved element in serotonergic genes

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

The spectrum of behaviors influenced by serotonin

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Localization of neuronal and glial glutamate transporters

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Dicarboxylic aminoaciduria associated with mental retardation

11 February 2021

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6629034

Association between microdeletion and microduplication at 16p11.2 and autism

11 February 2021

1 reference

Crossref

https://api.crossref.org/works/10.1038/S41588-019-0433-8

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/S41588-019-0433-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31209396 AND SRC:MED&resulttype=core&format=json

2 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31209396 AND SRC:MED&resulttype=core&format=json

2 May 2020

PubMed publication ID

31209396

1 reference