(Q34115675)

31 July 2017

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability (English)

1 reference

disability affecting intellectual abilities

31 July 2017

0 references

1 reference

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

non-syndromic intellectual disability

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22

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31 July 2017

1

Cheryl Shoubridge

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Robert J. Harvey

object named as

Robert J Harvey

18

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P. Andrew Futreal

20

object named as

P Andrew Futreal

1 reference

31 July 2017

21

Michael R Stratton

1 reference

31 July 2017

2

Patrick S Tarpey

1 reference

31 July 2017

7

Jackie Boyle

1 reference

31 July 2017

Sinitdhorn Rujirabanjerd

5

object named as

Sinitdhorn Rujirabanjerd

1 reference

31 July 2017

Fatima Abidi

3

1 reference

31 July 2017

Sarah L Ramsden

4

1 reference

31 July 2017

Jessica A Murphy

6

1 reference

31 July 2017

Marie Shaw

8

1 reference

31 July 2017

Alison Gardner

9

1 reference

31 July 2017

Anne Proos

10

1 reference

31 July 2017

Helen Puusepp

11

1 reference

31 July 2017

F Lucy Raymond

12

1 reference

31 July 2017

Charles E Schwartz

13

1 reference

31 July 2017

Roger E Stevenson

14

1 reference

31 July 2017

Gill Turner

15

1 reference

31 July 2017

Michael Field

16

1 reference

31 July 2017

Randall S Walikonis

17

1 reference

31 July 2017

Anna Hackett

19

1 reference

31 July 2017

language of work or name

English

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publication date

16 May 2010

1 reference

31 July 2017

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31 July 2017

42

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31 July 2017

486-488

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31 July 2017

6

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.588

31 July 2017

0 references

cites work

The genetic landscape of intellectual disability arising from chromosome X.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

Correction of fragile X syndrome in mice.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

The GGAs promote ARF-dependent recruitment of clathrin to the TGN

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

A glutamic finger in the guanine nucleotide exchange factor ARNO displaces Mg2+ and the beta-phosphate to destabilize GDP on ARF1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

Calcium activation of Ras mediated by neuronal exchange factor Ras-GRF.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

X-linked Mental Retardation Without Physical Abnormality: Renpenning's Syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

Nomenclature guidelines for X-linked mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

Regulation of Arf activation: the Sec7 family of guanine nucleotide exchange factors

28 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.588

Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3632837

Ca2+ regulates calmodulin binding to IQ motifs in IRS-1

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20473311

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.588

1 reference

31 July 2017

1 reference

31 July 2017

1 reference