(Q36824880)

16 August 2017

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis (English)

1 reference

16 August 2017

0 references

Aimée L Fenwick

2

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Alexander Kanapin

Alexander Kanapin

19

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Simon J McGowan

Simon J McGowan

Andrew Oliver Mungo Wilkie

4

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Andrew O M Wilkie

27

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Peter J van der Spek

23

Peter J van der Spek

1 reference

16 August 2017

24

Irene M J Mathijssen

1 reference

16 August 2017

5

Jacqueline A C Goos

1 reference

16 August 2017

A Jeannette M Hoogeboom

6

A Jeannette M Hoogeboom

1 reference

16 August 2017

12

Julie M Phipps

1 reference

16 August 2017

Vikram P Sharma

1

1 reference

16 August 2017

Mia S Brockop

3

1 reference

16 August 2017

Angela F Brady

7

1 reference

16 August 2017

Nu Owase Jeelani

8

1 reference

16 August 2017

Sally Ann Lynch

9

1 reference

16 August 2017

John B Mulliken

10

1 reference

16 August 2017

Dylan J Murray

11

1 reference

16 August 2017

Elizabeth Sweeney

13

1 reference

16 August 2017

Susan E Tomkins

14

1 reference

16 August 2017

Louise C Wilson

15

1 reference

16 August 2017

Sophia Bennett

16

1 reference

16 August 2017

Richard J Cornall

17

1 reference

16 August 2017

John Broxholme

18

1 reference

16 August 2017

500 Whole-Genome Sequences (WGS500) Consortium

20

1 reference

16 August 2017

David Johnson

21

1 reference

16 August 2017

Steven A Wall

22

1 reference

16 August 2017

Robert E Maxson

25

1 reference

16 August 2017

Stephen R F Twigg

26

1 reference

16 August 2017

language of work or name

English

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publication date

27 January 2013

1 reference

16 August 2017

1 reference

16 August 2017

45

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16 August 2017

3

1 reference

16 August 2017

304-307

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Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Exome sequencing identifies the cause of a mendelian disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Crystal structure of E47-NeuroD1/beta2 bHLH domain-DNA complex: heterodimer selectivity and DNA recognition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Mechanism of transcriptional activation by the proto-oncogene Twist1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

E2A and HEB are required to block thymocyte proliferation prior to pre-TCR expression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

The basic helix-loop-helix transcription factor HEBAlt is expressed in pro-T cells and enhances the generation of T cell precursors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Recent advances in craniofacial morphogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Twist1 dimer selection regulates cranial suture patterning and fusion

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

A twist code determines the onset of osteoblast differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Enhancer-specific modulation of E protein activity

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Mutations of the TWIST gene in the Saethre-Chotzen 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=3647333

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen 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=3647333

Efficient in vivo manipulation of mouse genomic sequences at the zygote stage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

The E2A gene product contains two separable and functionally distinct transcription activation domains

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

twist is required in head mesenchyme for cranial neural tube morphogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Murine helix-loop-helix transcriptional activator proteins binding to the E-box motif of the Akv murine leukemia virus enhancer identified by cDNA cloning

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

HEB, a Helix-Loop-Helix Protein Related to E2A and ITF2 That Can Modulate the DNA-Binding Ability of Myogenic Regulatory Factors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Comparative roles of Twist-1 and Id1 in transcriptional regulation by BMP signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Craniosynostosis in a patient with a de novo 15q15-q22 deletion

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Genomic organization of human TCF12 gene and spliced mRNA variants producing isoforms of transcription factor HTF4.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Genetic study of nonsyndromic coronal craniosynostosis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3647333

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.2531

21 January 2018

Identifiers

DOI

10.1038/NG.2531

1 reference

release_c7pq23c5wbhmtoulwshmzbim2q

16 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/c7pq23c5wbhmtoulwshmzbim2q

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

16 August 2017

PubMed publication ID

23354436

1 reference