(Q35049670)

English

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 August 2017

1 reference

Europe PubMed Central

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

0 references

non-syndromic X-linked intellectual disability

0 references

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

3

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Cheryl Shoubridge

1

object named as

Cheryl Shoubridge

0 references

Robert J. Harvey

object named as

Robert J Harvey

4

0 references

author name string

Randall S Walikonis

2

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 September 2010

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Small GTPases (journal)

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

98-103

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

AMPA receptor signaling through BRAG2 and Arf6 critical for long-term synaptic depression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

IQ-ArfGEF/BRAG1 is associated with synaptic ribbons in the mouse retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

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=3116596

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Lessons learnt from large-scale exon re-sequencing of the X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

The postsynaptic density protein, IQ-ArfGEF/BRAG1, can interact with IRSp53 through its proline-rich sequence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Genetics of intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Genes, plasticity and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Regulation of actin cytoskeleton dynamics by Arf-family GTPases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Identification of a neuron-specific human gene, KIAA1110, that is a guanine nucleotide exchange factor for ARF1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Composition of the synaptic PSD-95 complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

ARF6 in the nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

The small G proteins of the Arf family and their regulators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

GEP100/BRAG2: activator of ADP-ribosylation factor 6 for regulation of cell adhesion and actin cytoskeleton via E-cadherin and alpha-catenin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

ARF proteins: roles in membrane traffic and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Brain-specific potential guanine nucleotide exchange factor for Arf, synArfGEF (Po), is localized to postsynaptic density

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Rho proteins, mental retardation and the cellular basis of cognition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

ARF-GEP(100), a guanine nucleotide-exchange protein for ADP-ribosylation factor 6

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3116596

8 July 2018

Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

1 reference

https://api.crossref.org/works/10.4161%2FSGTP.1.2.13285

21 January 2018

A familial cryptic subtelomeric deletion 12p with variable phenotypic effect.

1 reference

https://api.crossref.org/works/10.4161%2FSGTP.1.2.13285

21 January 2018

Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation.

1 reference

https://api.crossref.org/works/10.4161%2FSGTP.1.2.13285

21 January 2018

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

1 reference

https://pubmed.ncbi.nlm.nih.gov/21686261

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.4161/SGTP.1.2.13285

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

ResearchGate publication ID

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