(Q35234874)

7 August 2017

title

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections (English)

1 reference

7 August 2017

36

Robert Hofstra

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7 August 2017

Hanka Venselaar

9

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Bart L Loeys

object named as

Bart L Loeys

45

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Gareth Baynam

28

object named as

Gareth Baynam

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7 August 2017

author name string

Aida M Bertoli-Avella

1

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7 August 2017

Elisabeth Gillis

2

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7 August 2017

Hiroko Morisaki

3

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7 August 2017

Judith M A Verhagen

4

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7 August 2017

Bianca M de Graaf

5

1 reference

7 August 2017

Gerarda van de Beek

6

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7 August 2017

Elena Gallo

7

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7 August 2017

Boudewijn P T Kruithof

8

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7 August 2017

Loretha A Myers

10

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7 August 2017

Steven Laga

11

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7 August 2017

Alexander J Doyle

12

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7 August 2017

Gretchen Oswald

13

1 reference

7 August 2017

Gert W A van Cappellen

14

1 reference

7 August 2017

Itaru Yamanaka

15

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7 August 2017

Robert M van der Helm

16

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7 August 2017

Berna Beverloo

17

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7 August 2017

Annelies de Klein

18

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7 August 2017

Luba Pardo

19

1 reference

7 August 2017

Martin Lammens

20

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7 August 2017

Christina Evers

21

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7 August 2017

Koenraad Devriendt

22

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7 August 2017

Michiel Dumoulein

23

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7 August 2017

Janneke Timmermans

24

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7 August 2017

Hennie T Bruggenwirth

25

1 reference

7 August 2017

Frans Verheijen

26

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7 August 2017

Inez Rodrigus

27

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7 August 2017

Marlies Kempers

29

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7 August 2017

Johan Saenen

30

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7 August 2017

Emeline M Van Craenenbroeck

31

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7 August 2017

Kenji Minatoya

32

1 reference

7 August 2017

Ritsu Matsukawa

33

1 reference

7 August 2017

Takuro Tsukube

34

1 reference

7 August 2017

Noriaki Kubo

35

1 reference

7 August 2017

Marie Jose Goumans

37

1 reference

7 August 2017

Jos A Bekkers

38

1 reference

7 August 2017

Jolien W Roos-Hesselink

39

1 reference

7 August 2017

Ingrid M B H van de Laar

40

1 reference

7 August 2017

Harry C Dietz

41

1 reference

7 August 2017

Lut Van Laer

42

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7 August 2017

Takayuki Morisaki

43

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7 August 2017

Marja W Wessels

44

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7 August 2017

language of work or name

English

0 references

publication date

1 April 2015

1 reference

Journal of the American College of Cardiology

7 August 2017

published in

1 reference

7 August 2017

volume

65

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7 August 2017

issue

13

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7 August 2017

page(s)

1324-1336

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YASARA View - molecular graphics for all devices - from smartphones to workstations

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Regulation of TGFβ and related signals by precursor processing.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Distribution, determinants, and normal reference values of thoracic and abdominal aortic diameters by computed tomography (from the Framingham Heart Study).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

An integrated map of genetic variation from 1,092 human genomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

TGFβ signalling in context

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Generation of mice with a conditional allele for the transforming growth factor beta3 gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Latent TGF-β structure and activation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Lessons on the pathogenesis of aneurysm from heritable conditions

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

TGFβ: a sleeping giant awoken by integrins

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

First locus for primary pulmonary vein stenosis maps to chromosome 2q.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Ligand-specific function of transforming growth factor beta in epithelial-mesenchymal transition in heart development

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Absence of integrin-mediated TGFbeta1 activation in vivo recapitulates the phenotype of TGFbeta1-null mice

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Aneurysm syndromes caused by mutations in the TGF-beta receptor

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Heterozygous TGFBR2 mutations in Marfan syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Transforming growth factor beta in cardiovascular development and function

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

The integrin alphavbeta3 is a receptor for the latency-associated peptides of transforming growth factors beta1 and beta3

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

The integrin alphaVbeta6 binds and activates latent TGFbeta3.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Control of autofluorescence of archival formaldehyde-fixed, paraffin-embedded tissue in confocal laser scanning microscopy (CLSM).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Predicting deleterious amino acid substitutions

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Interactions between growth factors and integrins: latent forms of transforming growth factor-beta are ligands for the integrin alphavbeta1

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Improved splice site detection in Genie

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Abnormal lung development and cleft palate in mice lacking TGF-beta 3 indicates defects of epithelial-mesenchymal interaction

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Prediction of human mRNA donor and acceptor sites from the DNA sequence

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Reference values for echocardiographic assessment of the diameter of the aortic root and ascending aorta spanning all age categories.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

MutationTaster2: mutation prediction for the deep-sequencing age.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4380321

HaploPainter: a tool for drawing pedigrees with complex haplotypes

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25835445

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25835445

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Response to "De novo mutation of the TGFB3 latency-associated peptide domain in a patient with overgrowth and Loeys-Dietz syndrome features"

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25835445

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.JACC.2015.01.040

1 reference

7 August 2017

1 reference

7 August 2017

1 reference