(Q34331334)

1 August 2017

Heterozygous TGFBR2 mutations in Marfan syndrome (English)

1 reference

1 August 2017

1 reference

1 reference

Mathilde Varret

8

0 references

Catherine Boileau

object named as

Catherine Boileau

22

0 references

Mireille Claustres

9

object named as

Mireille Claustres

1 reference

1 August 2017

21

Norio Niikawa

1 reference

1 August 2017

12

Akira Kinoshita

1 reference

1 August 2017

13

Koh-ichiro Yoshiura

1 reference

1 August 2017

4

Marianne Abifadel

1 reference

1 August 2017

7

Delphine Allard

1 reference

1 August 2017

14

Claudine Junien

1 reference

1 August 2017

16

Guillaume Jondeau

1 reference

1 August 2017

1

Takeshi Mizuguchi

1 reference

1 August 2017

17

Tohru Ohta

1 reference

1 August 2017

18

Tatsuya Kishino

1 reference

1 August 2017

11

Makoto Ihara

1 reference

1 August 2017

15

Tadashi Kajii

1 reference

1 August 2017

Gwenaëlle Collod-Beroud

2

1 reference

1 August 2017

Takushi Akiyama

3

1 reference

1 August 2017

Naoki Harada

5

1 reference

1 August 2017

Takayuki Morisaki

6

1 reference

1 August 2017

Hiroko Morisaki

10

1 reference

1 August 2017

Yoichi Furukawa

19

1 reference

1 August 2017

Yusuke Nakamura

20

1 reference

1 August 2017

Naomichi Matsumoto

23

1 reference

1 August 2017

language of work or name

English

0 references

publication date

4 July 2004

1 reference

1 August 2017

1 reference

1 August 2017

36

1 reference

1 August 2017

8

1 reference

1 August 2017

855-860

1 reference

https://scigraph.springernature.com/pub.10.1038/ng1392

1 August 2017

0 references

cites work

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Making sense of latent TGFbeta activation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Marfan syndrome in the third Millennium

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Genetic and epigenetic alterations in colon cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Listening to silence and understanding nonsense: exonic mutations that affect splicing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Two divergent signaling pathways for TGF-beta separated by a mutation of its type II receptor gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Revised diagnostic criteria for the Marfan syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Two-dimensional echocardiographic aortic root dimensions in normal children and adults

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Development and validation of the Cancer Dyspnoea Scale: a multidimensional, brief, self-rating scale

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG1392

HNPCC associated with germline mutation in the TGF-beta type II receptor gene.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG1392

Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Microsatellite instability and mutations of the transforming growth factor beta type II receptor gene in colorectal cancer

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230615

Transforming growth factor beta induces fibroblast fibrillin-1 matrix formation

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15235604

12 December 2020

inferred from PubMed ID database lookup

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15235604

12 December 2020

inferred from PubMed ID database lookup

Fibrillin controls TGF-beta activation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15235604

12 December 2020

inferred from PubMed ID database lookup

Revised diagnostic criteria for the Marfan syndrome

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG1392

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG1392

1 reference

1 August 2017

1 reference

1 August 2017

1 reference