(Q24293192)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

T-box transcription factor 22

7 January 2020

main subject

patient

0 references

1 reference

negative regulation of transcription, DNA-templated

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Manvendra K Singh

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Kit Doudney

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Jan J. Brosens

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Philip Stanier

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

author name string

Artemisia M Andreou

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Marius C Jones

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Markus Bussen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Gudrun E Moore

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Andreas Kispert

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

language of work or name

English

0 references

publication date

16 August 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

7 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

81

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

700-712

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome

7 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

TBX22 mutations are a frequent cause of cleft palate

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

TBX5 nuclear localization is mediated by dual cooperative intramolecular signals

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Functional analysis of TBX5 missense mutations associated with Holt-Oram syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Viral immediate-early proteins abrogate the modification by SUMO-1 of PML and Sp100 proteins, correlating with nuclear body disruption

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Crystallographic structure of the T domain-DNA complex of the Brachyury transcription factor

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Altered sumoylation of p63alpha contributes to the split-hand/foot malformation phenotype

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

T-box genes in vertebrate development

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Something about SUMO inhibits transcription

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

A mechanism for inhibiting the SUMO pathway

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Activation of transforming growth factor-beta signaling by SUMO-1 modification of tumor suppressor Smad4/DPC4

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Functional heterogeneity of small ubiquitin-related protein modifiers SUMO-1 versus SUMO-2/3

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

SUMO1 haploinsufficiency leads to cleft lip and palate

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

The Brachyury gene encodes a novel DNA binding protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

SUMO-1 conjugation in vivo requires both a consensus modification motif and nuclear targeting

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Nuclear and unclear functions of SUMO

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Periconceptional health and lifestyle factors of both parents affect the risk of live-born children with orofacial clefts

10 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

The relationship between cleft lip, maxillary hypoplasia, hypoxia and phenytoin

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Regulation of SUMOylation by reversible oxidation of SUMO conjugating enzymes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Both the functional specificity and autoregulative activity of two ascidian T-box genes HrBra and HrTbx6 are likely to be mediated by the DNA-binding domain

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Parent's age and the risk of oral clefts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Global shifts in protein sumoylation in response to electrophile and oxidative stress.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Cleft palate: players, pathways, and pursuits

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

TBX5, a gene mutated in Holt-Oram syndrome, is regulated through a GC box and T-box binding elements (TBEs).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

SUMO and Transcriptional Repression: Dynamic Interactions Between the MAP Kinase and SUMO Pathways

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Gene/environment causes of cleft lip and/or palate

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

T-targets: clues to understanding the functions of T-box proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Animal models for human craniofacial malformations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Cleft lip (± cleft palate) etiology: A search for solutions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

The influence of earthquake-induced stress on human facial clefting and its simulation in mice

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Psychological stress in cleft palate etiology.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

The T-box factor TBX-2 and the SUMO conjugating enzyme UBC-9 are required for ABa-derived pharyngeal muscle in C. elegans

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

SoxE factors function equivalently during neural crest and inner ear development and their activity is regulated by SUMOylation.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Determinants of T box protein specificity.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2227921

Modification of Msx1 by SUMO-1

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17846996

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Altitude as a risk factor for congenital anomalies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17846996

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/521033

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17846996%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

PubMed publication ID

17846996

1 reference