(Q34329197)

1 August 2017

title

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis (English)

1 reference

1 August 2017

Merridee A Wouters

3

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Duncan B. Sparrow

object named as

Duncan B Sparrow

1

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Sally L. Dunwoodie

object named as

Sally L Dunwoodie

5

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author name string

David Sillence

2

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1 August 2017

Peter D Turnpenny

4

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1 August 2017

language of work or name

1 reference

20 January 2010

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

18

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1 August 2017

issue

6

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1 August 2017

page(s)

674-679

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Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Disruption of the somitic molecular clock causes abnormal vertebral segmentation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Delta-Notch--and then? Protein interactions and proposed modes of repression by Hes and Hey bHLH factors

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Abnormal vertebral segmentation and the notch signaling pathway in man.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Mutated MESP2 causes spondylocostal dysostosis in humans

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Periodic repression by the bHLH factor Hes7 is an essential mechanism for the somite segmentation clock

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Vertebrate hairy and Enhancer of split related proteins: transcriptional repressors regulating cellular differentiation and embryonic patterning

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Dynamic expression and essential functions of Hes7 in somite segmentation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the presomitic mesoderm

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Waves of mouse Lunatic fringe expression, in four-hour cycles at two-hour intervals, precede somite boundary formation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

lunatic fringe is an essential mediator of somite segmentation and patterning

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

Detecting polymorphisms and mutations in candidate genes

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.241

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.241

Diverse requirements for Notch signalling in mammals

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987349

27 October 2018

Identifiers

DOI

10.1038/EJHG.2009.241

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference