The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome (Q34980831)

24736733

5 August 2017

title

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome (English)

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5 August 2017

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publication date

16 April 2014

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24736733

European Journal of Human Genetics

5 August 2017

published in

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volume

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issue

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page(s)

224-228

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In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

13 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice

8 July 2018

1 reference

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Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

Ski and SnoN, potent negative regulators of TGF-beta signaling

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

8 July 2018

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TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

8 July 2018

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Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

Ski acts as a co-repressor with Smad2 and Smad3 to regulate the response to type beta transforming growth factor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

c-Ski acts as a transcriptional co-repressor in transforming growth factor-beta signaling through interaction with smads

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

The Ski oncoprotein interacts with the Smad proteins to repress TGFbeta signaling

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

Ski is a component of the histone deacetylase complex required for transcriptional repression by Mad and thyroid hormone receptor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

Autonomous neural axis formation by ectopic expression of the protooncogene c-ski.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

Mice lacking the ski proto-oncogene have defects in neurulation, craniofacial patterning, and skeletal muscle development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4297897

A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias

8 July 2018

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Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

8 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.61

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.61

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.61

Ectopic expression of c-ski disrupts gastrulation and neural patterning in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.61

21 January 2018

Identifiers

DOI

10.1038/EJHG.2014.61

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24736733

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