(Q28117236)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

case report

0 references

title

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability (English)

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

1 reference

GOA release 2020-03-11

generation of neurons

1 reference

X-linked intellectual disability

GOA release 2020-03-11

0 references

disability affecting intellectual abilities

1 reference

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Lachlan A Jolly

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Matthew Hunter

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Elizabeth E Palmer

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Stefan Haas

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Vera M. Kalscheuer

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

2

Mark A Corbett

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

29

Eric Haan

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

8

Alison Gardner

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

9

Marie Shaw

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

13

Anna Hackett

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

16

Melanie Leffler

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

19

Melanie Bienek

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

20

Corinna Jensen

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

3

Bregje W M van Bon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

4

Joshua A Woenig

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

7

Kathryn L Friend

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

22

Hilde Van Esch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

24

Martine Raynaud

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

author name string

Raman Kumar

1

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Lloyd Weir

5

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Evelyn Douglas

6

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Chuan Tan

11

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Michael Field

14

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Carolyn Rogers

17

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Jackie Boyle

18

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Griet Van Buggenhout

21

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Katrin Hoffmann

23

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Huiying Zhao

25

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Robin Reed

26

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

Hao Hu

27

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

language of work or name

English

0 references

publication date

9 July 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

19 February 2020

published in

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

volume

97

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

issue

2

2 references

4 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

page(s)

302-310

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

Aly and THO are required for assembly of the human TREX complex and association of TREX components with the spliced mRNA

19 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways

20 March 2017

1 reference

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Chtop is a component of the dynamic TREX mRNA export complex

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment

20 March 2017

1 reference

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Intellectual disability associated with a homozygous missense mutation in THOC6

20 March 2017

1 reference

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De novo mutations in epileptic encephalopathies

20 March 2017

1 reference

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Improving protein fold recognition and template-based modeling by employing probabilistic-based matching between predicted one-dimensional structural properties of query and corresponding native properties of templates

20 March 2017

1 reference

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Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

20 March 2017

1 reference

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mRNA export and the TREX complex

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

THOC5/FMIP, an mRNA export TREX complex protein, is essential for hematopoietic primitive cell survival in vivo

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Identification of Drosophila mitotic genes by combining co-expression analysis and RNA interference

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

The THO complex regulates pluripotency gene mRNA export and controls embryonic stem cell self-renewal and somatic cell reprogramming

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Pfam: the protein families database

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Extension of cortical synaptic development distinguishes humans from chimpanzees and macaques

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

A framework for the interpretation of de novo mutation in human disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Proteomics. Tissue-based map of the human proteome

7 April 2017

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

7 April 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

27 November 2018

https://pubmed.ncbi.nlm.nih.gov/26166480

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Functional and evolutionary insights into human brain development through global transcriptome analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

The diverse genetic landscape of neurodevelopmental disorders.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

SCF-FBXO31 E3 ligase targets DNA replication factor Cdt1 for proteolysis in the G2 phase of cell cycle to prevent re-replication

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Genic intolerance to functional variation and the interpretation of personal genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

R-loops cause replication impairment and genome instability during meiosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Export and stability of naturally intronless mRNAs require specific coding region sequences and the TREX mRNA export complex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Highly accurate and high-resolution function prediction of RNA binding proteins by fold recognition and binding affinity prediction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Identification of mRNAs that are spliced but not exported to the cytoplasm in the absence of THOC5 in mouse embryo fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Structure-based prediction of RNA-binding domains and RNA-binding sites and application to structural genomics targets.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

A genome-wide siRNA screen reveals diverse cellular processes and pathways that mediate genome stability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

The genetic landscape of intellectual disability arising from chromosome X.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

mRNA nuclear export at a glance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Thoc1 deficiency compromises gene expression necessary for normal testis development in the mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

TREX, SR proteins and export of mRNA.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Identification of 315 genes essential for early zebrafish development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

mRNA nuclear export and human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Localization of non-specific X-linked mental retardation genes

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Genome-wide analysis of mRNAs regulated by the THO complex in Drosophila melanogaster

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4573269

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26166480

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Integrative analysis of the ubiquitin proteome isolated using Tandem Ubiquitin Binding Entities (TUBEs)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26166480

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.05.021

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json

19 February 2020

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26166480%20AND%20SRC:MED&resulttype=core&format=json