(Q36534922)

14 August 2017

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

1 reference

Shprintzen-Goldberg syndrome

14 August 2017

1 reference

Dorien Schepers

6

0 references

Bart L Loeys

object named as

Bart L Loeys

23

0 references

Mark Caulfield

object named as

Mark J Caulfield

15

0 references

Geert Mortier

object named as

Geert Mortier

8

0 references

author name string

Alexander J Doyle

1

1 reference

14 August 2017

Jefferson J Doyle

2

1 reference

14 August 2017

Seneca L Bessling

3

1 reference

14 August 2017

Samantha Maragh

4

1 reference

14 August 2017

Mark E Lindsay

5

1 reference

14 August 2017

Elisabeth Gillis

7

1 reference

14 August 2017

Tessa Homfray

9

1 reference

14 August 2017

Kimberly Sauls

10

1 reference

14 August 2017

Russell A Norris

11

1 reference

14 August 2017

Nicholas D Huso

12

1 reference

14 August 2017

Dan Leahy

13

1 reference

14 August 2017

David W Mohr

14

1 reference

14 August 2017

Alan F Scott

16

1 reference

14 August 2017

Anne Destrée

17

1 reference

14 August 2017

Raoul C Hennekam

18

1 reference

14 August 2017

Pamela H Arn

19

1 reference

14 August 2017

Cynthia J Curry

20

1 reference

14 August 2017

Lut Van Laer

21

1 reference

14 August 2017

Andrew S McCallion

22

1 reference

14 August 2017

Harry C Dietz

24

1 reference

14 August 2017

language of work or name

English

0 references

publication date

30 September 2012

1 reference

14 August 2017

1 reference

14 August 2017

44

1 reference

14 August 2017

1249-1254

1 reference

14 August 2017

11

1 reference

https://scigraph.springernature.com/pub.10.1038/ng.2421

14 August 2017

0 references

cites work

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

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=3545695

Lessons on the pathogenesis of aneurysm from heritable conditions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

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=3545695

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=3545695

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=3545695

The Genome Analysis Toolkit: A MapReduce framework for analyzing 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=3545695

ANNOVAR: functional annotation of genetic variants from high-throughput 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=3545695

Expression of the familial cardiac valvular dystrophy gene, filamin-A, during heart morphogenesis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

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=3545695

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=3545695

Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Angiotensin II blockade and aortic-root dilation in Marfan's 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=3545695

I-TASSER server for protein 3D structure prediction

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Competition between Ski and CREB-binding protein for binding to Smad proteins in transforming growth factor-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=3545695

Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Inactivation of SMAD4 tumor suppressor gene during gastric carcinoma progression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Aneurysm syndromes caused by mutations in the TGF-beta 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=3545695

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan 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=3545695

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=3545695

TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan 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=3545695

Heterozygous TGFBR2 mutations in Marfan 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=3545695

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=3545695

Smad-dependent and Smad-independent pathways in TGF-beta family signalling

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Direct interaction of Ski with either Smad3 or Smad4 is necessary and sufficient for Ski-mediated repression of transforming growth factor-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=3545695

SIFT: Predicting amino acid changes that affect protein function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the 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=3545695

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan 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=3545695

Smad3 allostery links TGF-beta receptor kinase activation to transcriptional control

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Cytoplasmic localization of the oncogenic protein Ski in human cutaneous melanomas in vivo: functional implications for transforming growth factor 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=3545695

Inhibition of skiA and skiB gene expression ventralizes zebrafish embryos.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Mitogen-activated protein (MAP) kinase pathways: regulation and physiological functions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Smad transcriptional corepressors in TGF beta family 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=3545695

TGFbeta signaling in growth control, cancer, and heritable disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

The Ski oncoprotein interacts with the Smad proteins to repress TGFbeta 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=3545695

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=3545695

The Ski oncoprotein interacts with Skip, the human homolog of Drosophila Bx42

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Protooncogene c-ski is expressed in both proliferating and postmitotic neuronal populations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

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=3545695

Isolation of human cDNA clones of ski and the ski-related gene, sno

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

The ski oncogene induces muscle differentiation in quail embryo cells.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

A two-color acid-free cartilage and bone stain for zebrafish larvae.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Molecular pathology of Shprintzen-Goldberg syndrome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Shprintzen-Goldberg syndrome: a clinical analysis

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3545695

Rapid analysis of angiogenesis drugs in a live fluorescent zebrafish assay

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23023332

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Oncoprotein Ski Acts as an Antagonist of Transforming Growth Factor-β Signaling by Suppressing Smad2 Phosphorylation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23023332

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2421

1 reference

release_6wfwvrebxzcnbh622u6zjd5eoa

14 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6wfwvrebxzcnbh622u6zjd5eoa

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

14 August 2017

1 reference