(Q36365675)

13 August 2017

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

1 reference

13 August 2017

Valérie Cormier-Daire

34

Valérie Cormier-Daire

0 references

Anne De Paepe

37

Anne De Paepe

0 references

Peter Robinson

24

Peter N Robinson

0 references

Julie De Backer

Julie De Backer

14

0 references

Pierre Vabres

Pierre Vabres

20

0 references

Eloisa Arbustini

Eloisa Arbustini

22

0 references

Bert Callewaert

Bert Callewaert

4

0 references

Christophe Beroud

Christophe Beroud

32

0 references

Jeanne Amiel

Jeanne Amiel

33

0 references

Catherine Boileau

Catherine Boileau

36

0 references

Laurence Faivre

38

Laurence Faivre

1 reference

13 August 2017

Christel Thauvin-Robinet

6

Christel Thauvin-Robinet

1 reference

13 August 2017

26

Clarisse Baumann

1 reference

13 August 2017

Virginie Carmignac

1

1 reference

13 August 2017

Julien Thevenon

2

1 reference

13 August 2017

Lesley Adès

3

1 reference

13 August 2017

Sophie Julia

5

1 reference

13 August 2017

Lucie Gueneau

7

1 reference

13 August 2017

Jean-Benoit Courcet

8

1 reference

13 August 2017

Estelle Lopez

9

1 reference

13 August 2017

Katherine Holman

10

1 reference

13 August 2017

Marjolijn Renard

11

1 reference

13 August 2017

Henri Plauchu

12

1 reference

13 August 2017

Ghislaine Plessis

13

1 reference

13 August 2017

Anne Child

15

1 reference

13 August 2017

Gavin Arno

16

1 reference

13 August 2017

Laurence Duplomb

17

1 reference

13 August 2017

Patrick Callier

18

1 reference

13 August 2017

Bernard Aral

19

1 reference

13 August 2017

Nadège Gigot

21

1 reference

13 August 2017

Maurizia Grasso

23

1 reference

13 August 2017

Cyril Goizet

25

1 reference

13 August 2017

Maja Di Rocco

27

1 reference

13 August 2017

Jaime Sanchez Del Pozo

28

1 reference

13 August 2017

Frédéric Huet

29

1 reference

13 August 2017

Guillaume Jondeau

30

1 reference

13 August 2017

Gwenaëlle Collod-Beroud

31

1 reference

13 August 2017

Jean-Baptiste Rivière

35

1 reference

13 August 2017

language of work or name

English

0 references

publication date

25 October 2012

1 reference

American Journal of Human Genetics

13 August 2017

1 reference

13 August 2017

91

1 reference

13 August 2017

5

1 reference

13 August 2017

950-957

1 reference

From tall to short: the role of TGFβ signaling in growth and its disorders

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

A framework for variation discovery and genotyping using next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Integrative genomics viewer

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

A method and server for predicting damaging missense mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

The Sequence Alignment/Map format and SAMtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Reactome knowledgebase of human biological pathways and processes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Regulation of the retinal determination gene dachshund in the embryonic head and developing eye of Drosophila

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

The protooncogene Ski controls Schwann cell proliferation and myelination

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Crystal structure of the dachshund homology domain of human SKI

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Repression of endogenous Smad7 by Ski.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Ski inhibits TGF-β/phospho-Smad3 signaling and accelerates hypertrophic differentiation in chondrocytes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Modulating epigenetic mechanisms: the diverse functions of Ski during cortical development

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Molecular pathology of Shprintzen-Goldberg syndrome

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

Craniosynostosis and marfanoid habitus without mental retardation: report of a third case.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3487125

10.1016/J.AJHG.2012.10.002

22 September 2018

Identifiers

DOI

1 reference

13 August 2017

1 reference

13 August 2017

PubMed publication ID

23103230

1 reference