(Q49080920)

18 February 2018

title

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. (English)

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18 February 2018

0 references

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5

Axel Haverich

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18 February 2018

Krishna Kumar Singh

1

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18 February 2018

Kathrin Rommel

2

1 reference

18 February 2018

Anjali Mishra

3

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18 February 2018

Matthias Karck

4

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18 February 2018

Jörg Schmidtke

6

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18 February 2018

Mine Arslan-Kirchner

7

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18 February 2018

publication date

1 August 2006

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18 February 2018

published in

Human Mutation

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18 February 2018

volume

27

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18 February 2018

issue

8

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18 February 2018

page(s)

770-777

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18 February 2018

Disruption of transforming growth factor beta signaling by a mutation that prevents transphosphorylation within the receptor complex.

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

The transforming growth factor-beta superfamily of receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

The TGF-beta superfamily: new members, new receptors, and new genetic tests of function in different organisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

The TGF-beta family and its composite receptors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

DNA-binding specificity of GATA family transcription factors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

Heterozygous TGFBR2 mutations in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

New insights into TGF-beta-Smad signalling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

Expression of GATA-binding proteins during embryonic development in Xenopus laevis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20354

7 January 2021

Identifiers

DOI

10.1002/HUMU.20354

1 reference

18 February 2018

PubMed ID

16799921

1 reference

18 February 2018