MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling (Q24604899)

2

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Nam Hee Kim

3

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Xuan Xu

4

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Michael J Friez

5

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Charles E Schwartz

6

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Thomas G Boyer

Proceedings of the National Academy of Sciences of the United States of America

7

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language of work or name

English

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publication date

27 November 2012

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published in

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volume

109

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issue

48

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page(s)

19763-8

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cites work

Mediator modulates Gli3-dependent Sonic hedgehog signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Mediator expression profiling epistasis reveals a signal transduction pathway with antagonistic submodules and highly specific downstream targets

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Srb10/Cdk8 regulates yeast filamentous growth by phosphorylating the transcription factor Ste12.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Shh and Gli3 regulate formation of the telencephalic-diencephalic junction and suppress an isthmus-like signaling source in the forebrain

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

The Hedgehog response network: sensors, switches, and routers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

All mouse ventral spinal cord patterning by hedgehog is Gli dependent and involves an activator function of Gli3

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

TFIIH is negatively regulated by cdk8-containing mediator complexes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Med12 is essential for early mouse development and for canonical Wnt and Wnt/PCP signaling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

The Shh-independent activator function of the full-length Gli3 protein and its role in vertebrate limb digit patterning

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Opposing gradients of Gli repressor and activators mediate Shh signaling along the dorsoventral axis of the inner ear

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Anorectal malformations caused by defects in sonic hedgehog signaling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Developmental roles and clinical significance of hedgehog signaling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

A structural perspective on Mediator function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Mediator and human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Gli proteins in development and disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

The metazoan Mediator co-activator complex as an integrative hub for transcriptional regulation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Activator-Mediator binding regulates Mediator-cofactor interactions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

A genome-scale analysis of the cis-regulatory circuitry underlying sonic hedgehog-mediated patterning of the mammalian limb

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Combinatorial signalling controls Neurogenin2 expression at the onset of spinal neurogenesis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Comparative genomics supports a deep evolutionary origin for the large, four-module transcriptional mediator complex

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

27 September 2017

XLMR genes: update 2007.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Finding new etiologies of mental retardation and hypotonia: X marks the spot

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

The Gli code: an information nexus regulating cell fate, stemness 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=3511715

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Mediator and the mechanism of transcriptional activation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

Gli3 coordinates three-dimensional patterning and growth of the tectum and cerebellum by integrating Shh and Fgf8 signaling.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511715

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1121120109

Mediator is a transducer of Wnt/beta-catenin signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1121120109

Systematic mapping of genetic interactions in Caenorhabditis elegans identifies common modifiers of diverse signaling pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1121120109

Patching the gaps in Hedgehog signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1121120109

The nuclear hormone receptor PPARγ as a therapeutic target in major diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1121120109

21 January 2018

Identifiers

DOI

10.1073/PNAS.1121120109

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1592040

ADS bibcode

2012PNAS..10919763Z

0 references

OpenCitations bibliographic resource ID

1592040

1 reference