(Q56374591)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

title

Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

main subject

Saethre-Chotzen syndrome

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Laurence Legeai-Mallet

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

author name string

C Benoist-Lasselin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

E Lajeunie

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

D Renier

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

A Munnich

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J Bonaventure

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

language of work or name

English

0 references

publication date

1 March 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

number of pages

7

1 reference

based on heuristic

inferred from page(s)

published in

FEBS Letters

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

volume

492

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

page(s)

112-118

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

Mutations of the TWIST gene in the Saethre-Chotzen syndrome

5 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

The twist gene: isolation of a Drosophila zygotic gene necessary for the establishment of dorsoventral pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

A Xenopus mRNA related to Drosophila twist is expressed in response to induction in the mesoderm and the neural crest

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

The M-twist gene of Mus is expressed in subsets of mesodermal cells and is closely related to the Xenopus X-twi and the Drosophila twist genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Arabidopsis thaliana ECP63 encoding a LEA protein is located in chromosome 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Analysis of a Caenorhabditis elegans Twist homolog identifies conserved and divergent aspects of mesodermal patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

twist is required in head mesenchyme for cranial neural tube morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Twist-mediated activation of the NK-4 homeobox gene in the visceral mesoderm of Drosophila requires two distinct clusters of E-box regulatory elements.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Inhibition of myogenic bHLH and MEF2 transcription factors by the bHLH protein Twist

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

M-twist is an inhibitor of muscle differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Repression of muscle-specific gene activation by the murine Twist protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

The basic domain of myogenic basic helix-loop-helix (bHLH) proteins is the novel target for direct inhibition by another bHLH protein, Twist

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Mutations in the human TWIST gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

A new DNA binding and dimerization motif in immunoglobulin enhancer binding, daughterless, MyoD, and myc proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Binding of myc proteins to canonical and noncanonical DNA sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Establishment of distinct MyoD, E2A, and twist DNA binding specificities by different basic region-DNA conformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Helix-loop-helix proteins: regulators of transcription in eucaryotic organisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Crystal structure of MyoD bHLH domain-DNA complex: perspectives on DNA recognition and implications for transcriptional activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Crystal structure of transcription factor E47: E-box recognition by a basic region helix-loop-helix dimer

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Recognition by Max of its cognate DNA through a dimeric b/HLH/Z domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Positional dependence, cliques, and predictive motifs in the bHLH protein domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Craniosynostosis: genes and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2801%2902238-4

10.1016/S0014-5793(01)02238-4

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11248247%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

1 reference