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

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

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scholarly article

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5 August 2017

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

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5 August 2017

Dorien Schepers

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13 June 2020

Michael Simpson

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13 June 2020

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13 June 2020

Charlotte W Ockeloen

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13 June 2020

Katta Mohan Girisha

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13 June 2020

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13 June 2020

Rick van Minkelen

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Rick Van Minkelen

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13 June 2020

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Zornitza Stark

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13 June 2020

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Alexander J Doyle

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13 June 2020

Gretchen Oswald

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13 June 2020

Elizabeth Sparks

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13 June 2020

Loretha Myers

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13 June 2020

Patrick J Willems

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13 June 2020

Sahar Mansour

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13 June 2020

Helena Frysira

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13 June 2020

Anneke Maat-Kievit

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13 June 2020

Jeanette M Hoogeboom

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13 June 2020

Hannah Titheradge

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13 June 2020

Louise Brueton

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13 June 2020

Lois Starr

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13 June 2020

Charles Marques Lourenco

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13 June 2020

Ed Blair

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13 June 2020

Emma Hobson

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13 June 2020

Jane Hurst

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13 June 2020

Isabelle Maystadt

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13 June 2020

Anne Destrée

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13 June 2020

Michelle Miller

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13 June 2020

Harry C Dietz

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13 June 2020

Lut Van Laer

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13 June 2020

publication date

16 April 2014

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5 August 2017

European Journal of Human Genetics

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13 June 2020

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13 June 2020

2

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13 June 2020

224-228

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13 June 2020

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

8 July 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Identifiers

10.1038/EJHG.2014.61

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24736733%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

PMC publication ID

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Europe PubMed Central

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13 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24736733%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

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