(Q28586874)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice (English)

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

GOA release 2020-03-11

Chromodomain helicase DNA binding protein 7

1 reference

GOA release 2020-03-11

author

Angela N Barrett

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Subreena Simrick

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Michiel Albertus Basson

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Peter J Scambler

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

13

Karen P Steel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

author name string

Victoria Randall

1

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Karen McCue

2

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Catherine Roberts

3

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Vanessa Kyriakopoulou

4

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Sarah Beddow

5

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Francesca Vitelli

7

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Katrina Prescott

8

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Charles Shaw-Smith

9

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Erika Bosman

11

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Georg Steffes

12

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Elizabeth Illingworth

16

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Koen Devriendt

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

language of work or name

English

0 references

publication date

12 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

Journal of Clinical Investigation

11 February 2020

published in

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

119

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

page(s)

3301-3310

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

issue

11

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

Retracted: Tbx1 Regulates the BMP-Smad1 Pathway in a Transcription Independent Manner

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Immunological abnormalities in CHARGE syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Tbx1 regulates population, proliferation and cell fate determination of otic epithelial cells

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Required, tissue-specific roles for Fgf8 in outflow tract formation and remodeling

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Tbx1 affects asymmetric cardiac morphogenesis by regulating Pitx2 in the secondary heart field

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Tbx1 expression in pharyngeal epithelia is necessary for pharyngeal arch artery development

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Multiple mutations in mouse Chd7 provide models for CHARGE syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Ablation of specific expression domains reveals discrete functions of ectoderm- and endoderm-derived FGF8 during cardiovascular and pharyngeal development

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Role of TBX1 in human del22q11.2 syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

MesP1 is expressed in the heart precursor cells and required for the formation of a single heart tube

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Chordin regulates primitive streak development and the stability of induced neural cells, but is not sufficient for neural induction in the chick embryo

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Modification of gene activity in mouse embryos in utero by a tamoxifen-inducible form of Cre recombinase

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

An Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Hoxa3 and signaling molecules involved in aortic arch patterning and remodeling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Repulsive and attractive semaphorins cooperate to direct the navigation of cardiac neural crest cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Molecular analysis of neural crest migration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Neural crest inducing signals

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

A public gene trap resource for mouse functional genomics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Three malformation complexes related to neural crest development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Features of DiGeorge syndrome and CHARGE association in five patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Deletion in chromosome region 22q11 in a child with CHARGE association.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Radial aplasia and chromosome 22q11 deletion

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Pathologic features of the CHARGE association: support for involvement of the neural crest.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Statistical methods for efficiency adjusted real-time PCR quantification.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

A histone lysine methyltransferase activated by non-canonical Wnt signalling suppresses PPAR-gamma transactivation

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Inactivation of Tbx1 in the pharyngeal endoderm results in 22q11DS malformations.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Two new mouse mutants with vestibular defects that map to the highly mutable locus on chromosome 4.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

SEMA3E mutation in a patient with CHARGE syndrome

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Cre-mediated excision of Fgf8 in the Tbx1 expression domain reveals a critical role for Fgf8 in cardiovascular development in the mouse.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

VEGF: a modifier of the del22q11 (DiGeorge) syndrome?

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

A genetic link between Tbx1 and fibroblast growth factor signaling.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

The Wheels mutation in the mouse causes vascular, hindbrain, and inner ear defects.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

The mouse Pdgfc gene: dynamic expression in embryonic tissues during organogenesis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2769172

Cardiovascular malformations and the neural crest

27 November 2018

1 reference

12 December 2020

A genetic etiology for interruption of the aortic arch type B

1 reference

12 December 2020

Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region

1 reference

12 December 2020

22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs

1 reference

12 December 2020

Incidence and significance of 22q11.2 hemizygosity in patients with interrupted aortic arch

1 reference

12 December 2020

Identifiers

2 references

31 January 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19855134%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

2 references

31 January 2017