Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability (Q34115675)

31 July 2017

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

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disability affecting intellectual abilities

31 July 2017

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intellectual disability

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based on heuristic

inferred from title

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based on heuristic

inferred from title

non-syndromic intellectual disability

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22

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Cheryl Shoubridge

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Robert J. Harvey

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Robert J Harvey

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P. Andrew Futreal

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P Andrew Futreal

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Michael R Stratton

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Patrick S Tarpey

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Jackie Boyle

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31 July 2017

Sinitdhorn Rujirabanjerd

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Sinitdhorn Rujirabanjerd

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Fatima Abidi

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Sarah L Ramsden

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Jessica A Murphy

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Marie Shaw

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Alison Gardner

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Anne Proos

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Helen Puusepp

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F Lucy Raymond

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Charles E Schwartz

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Roger E Stevenson

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Gill Turner

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Michael Field

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Randall S Walikonis

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Anna Hackett

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language of work or name

English

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publication date

16 May 2010

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42

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486-488

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

31 July 2017

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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

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31 July 2017

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