(Q34206730)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

X-linked intellectual disability

9 February 2020

main subject

disability

0 references

0 references

disability affecting intellectual abilities

1 reference

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Irina Voineagu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Julie McGaughran

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Lam S Nguyen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

L Huang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

K Winden

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

M Lazaro

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

E Haan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

J Nelson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

K Friend

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

A Hackett

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

M Field

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

D Geschwind

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

language of work or name

English

0 references

publication date

9 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

4-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/mp.2011.95

9 February 2020

exact match

0 references

cites work

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Mechanisms of nuclear mRNA quality control

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

The genetic landscape of intellectual disability arising from chromosome X.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Tissue profiling of the mammalian central nervous system using human antibody-based proteomics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Pre-mRNA processing reaches back to transcription and ahead to translation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Quality control of mRNP in the nucleus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

A 5' splice site enhances the recruitment of basal transcription initiation factors in vivo.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Systematically generated antibodies against human gene products: high throughput screening on sections from the rat nervous system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Process or perish: quality control in mRNA biogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Promoter proximal splice sites enhance transcription

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Improved splice site detection in Genie

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586744

Network neighborhood analysis with the multi-node topological overlap measure

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FMP.2011.95

Construction of a novel database containing aberrant splicing mutations of mammalian genes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21826058

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/MP.2011.95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21826058%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference