(Q36927154)

17 August 2017

Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene (English)

1 reference

17 August 2017

C Law

1

1 reference

17 August 2017

D Bunyan

2

1 reference

17 August 2017

B Castle

3

1 reference

17 August 2017

L Day

4

1 reference

17 August 2017

I Simpson

5

1 reference

17 August 2017

G Westwood

6

1 reference

17 August 2017

B Keeton

7

1 reference

17 August 2017

language of work or name

English

0 references

publication date

2 August 2006

1 reference

Journal of Medical Genetics

17 August 2017

1 reference

17 August 2017

43

1 reference

17 August 2017

12

1 reference

17 August 2017

908-916

1 reference

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

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

Compound developmental eye disorders following inactivation of TGFbeta signaling in neural-crest stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

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=2563201

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=2563201

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=2563201

Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

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=2563201

Management 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=2563201

Revised diagnostic criteria for the 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=2563201

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

Articular mobility in an African population

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

Inactivation of the type II receptor reveals two receptor pathways for the diverse TGF-beta activities.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

Expression cloning of the TGF-β type II receptor, a functional transmembrane serine/threonine kinase

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

TGFbeta-mediated FGF signaling is crucial for regulating cranial neural crest cell proliferation during frontal bone development

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2563201

Fibrillin controls TGF-beta activation

4 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16885183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Gene and protein expression of transforming growth factor beta 2 gene during murine primary palatogenesis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16885183

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.042176

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

16885183

1 reference