A sonic hedgehog missense mutation associated with holoprosencephaly causes defective binding to GAS1 (Q28505700)

24 January 2017

title

A sonic hedgehog missense mutation associated with holoprosencephaly causes defective binding to GAS1 (English)

1 reference

24 January 2017

main subject

Growth arrest specific 1

1 reference

GOA release 2020-03-11

Sonic hedgehog

1 reference

GOA release 2020-03-11

1 reference

David C. Martinelli

1

1 reference

24 January 2017

Chen-Ming Fan

series ordinal

2

1 reference

24 January 2017

language of work or name

English

0 references

publication date

17 July 2009

1 reference

Journal of Biological Chemistry

24 January 2017

published in

1 reference

24 January 2017

volume

284

1 reference

24 January 2017

issue

29

1 reference

24 January 2017

page(s)

19169–19172

1 reference

The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla

24 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Gas1 extends the range of Hedgehog action by facilitating its signaling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

The cell surface membrane proteins Cdo and Boc are components and targets of the Hedgehog signaling pathway and feedback network in mice

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Interplays of Gli2 and Gli3 and their requirement in mediating Shh-dependent sclerotome induction

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Evidence that the WNT-inducible growth arrest-specific gene 1 encodes an antagonist of sonic hedgehog signaling in the somite

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Mapping sonic hedgehog-receptor interactions by steric interference

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Sonic hedgehog protein signals not as a hydrolytic enzyme but as an apparent ligand for patched

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Vertebrate Hedgehog signalling modulated by induction of a Hedgehog-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=2740538

Identification of a palmitic acid-modified form of human Sonic hedgehog

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

A potential catalytic site revealed by the 1.7-A crystal structure of the amino-terminal signalling domain of Sonic hedgehog

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Murine models of holoprosencephaly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

The role of Gas1 in embryonic development and its implications for human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Nuclear targeting of Akt antagonizes aspects of cardiomyocyte hypertrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Signal relay by BMP antagonism controls the SHH/FGF4 feedback loop in vertebrate limb buds.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

Holoprosencephaly in human embryos: Epidemiologic studies of 150 cases

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2740538

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1074%2FJBC.C109.011957

The ihog cell-surface proteins bind Hedgehog and mediate pathway activation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1074%2FJBC.C109.011957

Embryonic expression patterns of the mouse and chick Gas1 genes.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1074%2FJBC.C109.011957

21 January 2018

Identifiers

DOI

10.1074/JBC.C109.011957

0 references

PMC publication ID

2740538

0 references

1 reference