(Q36740575)

16 August 2017

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

1 reference

16 August 2017

Dorien Schepers

2

0 references

Bart L Loeys

Bart L Loeys

27

0 references

Peter H. Byers

Peter H Byers

23

0 references

Geert Mortier

Geert R Mortier

21

0 references

Elliot K. Fishman

Elliot K Fishman

8

0 references

Han G. Brunner

22

Han G Brunner

1 reference

16 August 2017

17

Ernie M H F Bongers

1 reference

16 August 2017

Mark E Lindsay

1

1 reference

16 August 2017

Nikhita Ajit Bolar

3

1 reference

16 August 2017

Jefferson J Doyle

4

1 reference

16 August 2017

Elena Gallo

5

1 reference

16 August 2017

Justyna Fert-Bober

6

1 reference

16 August 2017

Marlies J E Kempers

7

1 reference

16 August 2017

Yichun Chen

9

1 reference

16 August 2017

Loretha Myers

10

1 reference

16 August 2017

Djahita Bjeda

11

1 reference

16 August 2017

Gretchen Oswald

12

1 reference

16 August 2017

Abdallah F Elias

13

1 reference

16 August 2017

Howard P Levy

14

1 reference

16 August 2017

Britt-Marie Anderlid

15

1 reference

16 August 2017

Margaret H Yang

16

1 reference

16 August 2017

Janneke Timmermans

18

1 reference

16 August 2017

Alan C Braverman

19

1 reference

16 August 2017

Natalie Canham

20

1 reference

16 August 2017

Jennifer Van Eyk

24

1 reference

16 August 2017

Lut Van Laer

25

1 reference

16 August 2017

Harry C Dietz

26

1 reference

16 August 2017

language of work or name

English

0 references

publication date

8 July 2012

1 reference

16 August 2017

1 reference

16 August 2017

44

1 reference

16 August 2017

8

1 reference

16 August 2017

922-927

1 reference

Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Lessons on the pathogenesis of aneurysm from heritable conditions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

A map of human genome variation from population-scale sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

MutationTaster evaluates disease-causing potential of sequence alterations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

The regulation of TGFbeta signal transduction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Circulating transforming growth factor-beta in Marfan syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

TGF-beta signaling: a tale of two responses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Fibrillin-1 regulates the bioavailability of TGFbeta1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Aneurysm syndromes caused by mutations in the TGF-beta receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Heterozygous TGFBR2 mutations in Marfan syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Regulation of limb patterning by extracellular microfibrils

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Double-outlet right ventricle and overriding tricuspid valve reflect disturbances of looping, myocardialization, endocardial cushion differentiation, and apoptosis in TGF-beta(2)-knockout mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Predicting deleterious amino acid substitutions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Prediction of deleterious human alleles

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

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=3616632

Conditional inactivation of TGF-β type II receptor in smooth muscle cells and epicardium causes lethal aortic and cardiac defects.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Absence of TGFbeta signaling in embryonic vascular smooth muscle leads to reduced lysyl oxidase expression, impaired elastogenesis, and aneurysm

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS).

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3616632

The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22772368

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2349

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

22772368

1 reference