(Q47396418)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22784330%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations (English)

1 reference

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7 February 2020

1 reference

1

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7 February 2020

Emma Peskett

2

1 reference

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7 February 2020

Philip Stanier

11

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7 February 2020

author name string

C Boissin

3

1 reference

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7 February 2020

A Hoshino

4

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7 February 2020

K Mengrelis

5

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7 February 2020

E Carta

6

1 reference

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7 February 2020

M A Abruzzo

7

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7 February 2020

M Lees

8

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7 February 2020

G E Moore

9

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7 February 2020

R P Erickson

10

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7 February 2020

publication date

7 August 2012

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7 February 2020

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7 February 2020

volume

83

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7 February 2020

issue

4

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7 February 2020

page(s)

352-358

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The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

7 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

TBX22 mutations are a frequent cause of cleft palate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Identification of differentially expressed genes in early inner ear development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Improved splice site detection in Genie

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

Regulation of Tbx22 during facial and palatal development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2012.01930.X

10.1111/J.1399-0004.2012.01930.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22784330%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference