(Q31153726)

21 August 2017

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS (English)

1 reference

amyotrophic lateral sclerosis

21 August 2017

0 references

1 reference

Bradley Smith

8

0 references

Aleksey Shatunov

Aleksey Shatunov

4

0 references

John P Quinn

John P Quinn

13

0 references

Gerome Breen

Gerome Breen

9

0 references

Pamela Shaw

Pamela J Shaw

6

0 references

Christopher Shaw

Christopher E Shaw

7

0 references

Karen E Morrison

Karen E Morrison

5

0 references

Ammar Al-Chalabi

10

Ammar Al-Chalabi

1 reference

21 August 2017

Abigail L Savage

1

1 reference

21 August 2017

Thomas P Wilm

2

1 reference

21 August 2017

Kejhal Khursheed

3

1 reference

21 August 2017

Diana Moss

11

1 reference

21 August 2017

Vivien J Bubb

12

1 reference

21 August 2017

language of work or name

English

0 references

publication date

7 March 2014

1 reference

21 August 2017

1 reference

21 August 2017

9

1 reference

21 August 2017

6

1 reference

21 August 2017

e90833

1 reference

Creative Commons Attribution 4.0 International

21 August 2017

start time

7 March 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A series of normal stages in the development of the chick embryo

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

21 June 2018

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0090833

Retroviruses and amyotrophic lateral sclerosis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Characterisation of the potential function of SVA retrotransposons to modulate gene expression patterns

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Is junk DNA bunk? A critique of ENCODE

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

The ENCODE project: implications for psychiatric genetics

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Allele-specific transcriptional activity of the variable number of tandem repeats in 5' region of the DRD4 gene is stimulus specific in human neuronal cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Active human retrotransposons: variation and disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

A polymorphism associated with depressive disorders differentially regulates brain derived neurotrophic factor promoter IV activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Behavioural genetics of the serotonin transporter.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Somatic retrotransposition alters the genetic landscape of the human brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Differential activity by polymorphic variants of a remote enhancer that supports galanin expression in the hypothalamus and amygdala: implications for obesity, depression and alcoholism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

An evolutionary conserved region (ECR) in the human dopamine receptor D4 gene supports reporter gene expression in primary cultures derived from the rat cortex.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

The SLC6A4 VNTR genotype determines transcription factor binding and epigenetic variation of this gene in response to cocaine in vitro.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Identification of active loci of a human endogenous retrovirus in neurons of patients with amyotrophic lateral sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Long-range regulatory synergy is required to allow control of the TAC1 locus by MEK/ERK signalling in sensory neurones

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

FUS mutations in sporadic amyotrophic lateral sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Combinatorial interaction between two human serotonin transporter gene variable number tandem repeats and their regulation by CTCF.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Loss of epigenetic silencing in tumors preferentially affects primate-specific retroelements

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

5'-Transducing SVA retrotransposon groups spread efficiently throughout the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Exon-trapping mediated by the human retrotransposon SVA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Accurate, Large-Scale Genotyping of 5HTTLPR and Flanking Single Nucleotide Polymorphisms in an Association Study of Depression, Anxiety, and Personality Measures

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Enhancer analysis by chicken embryo electroporation with aid of genome comparison

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Molecular genetics of monoamine transporters: relevance to brain disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Differential regulation of the serotonin transporter gene by lithium is mediated by transcription factors, CCCTC binding protein and Y-box binding protein 1, through the polymorphic intron 2 variable number tandem repeat

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Detection of serum reverse transcriptase activity in patients with ALS and unaffected blood relatives.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

YB-1 and CTCF differentially regulate the 5-HTT polymorphic intron 2 enhancer which predisposes to a variety of neurological disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Post-genomic approaches to exploring neuropeptide gene mis-expression in disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

The dopamine transporter gene (SLC6A3) variable number of tandem repeats domain enhances transcription in dopamine neurons

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

Detection of reverse transcriptase activity in the serum of patients with motor neurone disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

A serotonin transporter gene intron 2 polymorphic region, correlated with affective disorders, has allele-dependent differential enhancer-like properties in the mouse embryo

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946630

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

21 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0090833

Retrotransposons: mobile and mutagenic from conception to death.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0090833

SVA elements: a hominid-specific retroposon family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0090833

Novel family of human transposable elements formed due to fusion of the first exon of gene MAST2 with retrotransposon SVA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0090833

Functional analysis of chicken Sox2 enhancers highlights an array of diverse regulatory elements that are conserved in mammals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0090833

Modulation of orbitofrontal response to amphetamine by a functional variant of DAT1 and in vitro confirmation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0090833

Simultaneous genotyping of four functional loci of human SLC6A4, with a reappraisal of 5-HTTLPR and rs25531.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0090833

Monte Carlo tests for associations between disease and alleles at highly polymorphic loci

21 January 2018

1 reference

12 December 2020

Additive effect of BDNF and REST polymorphisms is associated with improved general cognitive ability

1 reference

12 December 2020

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0090833

Identifiers

DOI

1 reference

21 August 2017

0 references

1 reference

21 August 2017

PubMed publication ID

24608899

1 reference