(Q37186040)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

0 references

0 references

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

13

Anita Rauch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

12

Joris Andrieux

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

3

Frenny Sheth

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

author name string

Reza Asadollahi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Beatrice Oneda

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Silvia Azzarello-Burri

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Rosa Baldinger

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Pascal Joset

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Beatrice Latal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Walter Knirsch

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Alessandra Baumer

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Gunnar Houge

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

publication date

13 February 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

23 February 2020

published in

1 reference

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23 February 2020

volume

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

page(s)

1100-1104

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ejhg.2013.17

23 February 2020

exact match

0 references

cites work

Current perspectives of the signaling pathways directing neural crest induction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

A role for Mediator complex subunit MED13L in Rb/E2F-induced growth arrest

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Requirements for mediator complex subunits distinguish three classes of notch target genes at the Drosophila wing margin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Function and regulation of the Mediator complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

A comprehensive analysis of common copy-number variations in the human genome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Microduplication and triplication of 22q11.2: a highly variable syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

A set of consensus mammalian mediator subunits identified by multidimensional protein identification technology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

The TRAP100 component of the TRAP/Mediator complex is essential in broad transcriptional events and development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Drosophila TRAP230/240 are essential coactivators for Atonal in retinal neurogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Components of the transcriptional Mediator complex are required for asymmetric cell division in C. elegans

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

The Caenorhabditis elegans ortholog of TRAP240, CeTRAP240/let-19, selectively modulates gene expression and is essential for embryogenesis

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

Two subunits of the Drosophila mediator complex act together to control cell affinity

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3778355

An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23403903

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

23403903

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23403903%20AND%20SRC:MED&resulttype=core&format=json