Intellectual disability associated with a homozygous missense mutation in THOC6 (Q24339064)

disability affecting intellectual abilities

GOA release 2020-03-11

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

1 reference

Jeremy Schwartzentruber

11

Jeremy Schwartzentruber

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Robert A. Hegele

9

Robert A Hegele

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Kym M Boycott

16

Kym M Boycott

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Erik G Puffenberger

Erik G Puffenberger

5

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Carole Ober

8

Carole Ober

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Jacek Majewski

13

Jacek Majewski

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Chandree L Beaulieu

1

Chandree L Beaulieu

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Dennis E Bulman

14

Dennis E Bulman

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A. Micheil Innes

3

A Micheil Innes

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Jillian S Parboosingh

15

Jillian S Parboosingh

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author name string

Lijia Huang

2

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Marie-Andree Akimenko

4

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Charles Schwartz

6

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Paul Jerry

7

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D Ross McLeod

Orphanet Journal of Rare Diseases

10

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language of work or name

English

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publication date

2013

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published in

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volume

8

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issue

1

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page(s)

62

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cites work

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Adaptor Aly and co-adaptor Thoc5 function in the Tap-p15-mediated nuclear export of HSP70 mRNA

19 March 2017

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Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP)

19 March 2017

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Cancer cells and normal cells differ in their requirements for Thoc1

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Human mRNA export machinery recruited to the 5' end of mRNA

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Human hHpr1/p84/Thoc1 regulates transcriptional elongation and physically links RNA polymerase II and RNA processing factors

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19 March 2017

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A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae

19 March 2017

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Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

19 March 2017

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A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

19 March 2017

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

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7 April 2017

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A role for TREX components in the release of spliced mRNA from nuclear speckle domains

27 September 2017

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27 September 2017

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Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

27 September 2017

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Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

27 September 2017

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27 September 2017

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27 September 2017

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21 January 2018

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21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-62

THO/Sub2p functions to coordinate 3'-end processing with gene-nuclear pore association.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-62

Modulation of Transcription Affects mRNP Quality

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-8-62

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21 January 2018

1 reference

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A reduction in RNA polymerase II initiation rate suppresses hyper-recombination and transcription-elongation impairment of THO mutants

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1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23621916

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-62

1 reference

Dimensions Publication ID

1003778625

0 references

1 reference

1 reference

PubMed publication ID

23621916

1 reference