(Q24534025)

4 July 2017

0 references

Mutated MESP2 causes spondylocostal dysostosis in humans (English)

1 reference

spondylocostal dysostosis

4 July 2017

main subject

1 reference

4

David Sillence

David

Sillence

1 reference

20 October 2023

Merridee A Wouters

3

Merridee A

Wouters

1 reference

20 October 2023

Sally L Dunwoodie

6

Sally L

Dunwoodie

1 reference

20 October 2023

Duncan B Sparrow

2

Duncan B

Sparrow

1 reference

20 October 2023

Sian Ellard

5

Sian

Ellard

1 reference

20 October 2023

Neil V Whittock

1

Neil V

Whittock

1 reference

4 July 2017

Peter D Turnpenny

series ordinal

7

author given names

Peter D

author last names

Turnpenny

1 reference

4 July 2017

language of work or name

English

0 references

publication date

30 April 2004

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

74

1 reference

4 July 2017

issue

6

1 reference

4 July 2017

page(s)

1249-1254

1 reference

Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

MesP1 and MesP2 are essential for the development of cardiac mesoderm

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

MesP1 is expressed in the heart precursor cells and required for the formation of a single heart tube

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

MesP1: a novel basic helix-loop-helix protein expressed in the nascent mesodermal cells during mouse gastrulation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

Transcriptional regulation of Mesp1 and Mesp2 genes: differential usage of enhancers during development

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

Genetic rescue of segmentation defect in MesP2-deficient mice by MesP1 gene replacement.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

The mouse pudgy mutation disrupts Delta homologue Dll3 and initiation of early somite boundaries

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

Feedback loops comprising Dll1, Dll3 and Mesp2, and differential involvement of Psen1 are essential for rostrocaudal patterning of somites.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

Diverse requirements for Notch signalling in mammals.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

Thylacine 1 is expressed segmentally within the paraxial mesoderm of the Xenopus embryo and interacts with the Notch pathway

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182088

29 November 2018

Identifiers

DOI

10.1086/421053

1 reference

release_uxdcqncsxbdw7gegvffucufk3i

4 July 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

4532626

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference