(Q51939346)

18 April 2018

title

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders (English)

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18 April 2018

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18 April 2018

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3

Thierry Carrel

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18 April 2018

author name string

Eliane Arnold

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18 April 2018

Daniela Baumgartner

4

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18 April 2018

Catherine Boileau

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18 April 2018

Wolfgang Berger

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18 April 2018

Beat Steinmann

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18 April 2018

publication date

1 August 2006

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18 April 2018

published in

Human Mutation

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18 April 2018

volume

27

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18 April 2018

issue

8

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18 April 2018

page(s)

760-769

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18 April 2018

A dominant inhibitory mutant of the type II transforming growth factor beta receptor in the malignant progression of a cutaneous T-cell lymphoma

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Signaling activity of transforming growth factor beta type II receptors lacking specific domains in the cytoplasmic region

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Genetic analysis of the mammalian transforming growth factor-beta superfamily

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Novel inactivating mutations of transforming growth factor-beta type I receptor gene in head-and-neck cancer metastases

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Revised diagnostic criteria for the Marfan syndrome

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

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

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7 January 2021

Hydrogen bonds involving sulfur atoms in proteins.

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Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations

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7 January 2021

SWISS‐MODEL and the Swiss‐Pdb Viewer: An environment for comparative protein modeling

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7 January 2021

The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification 1

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Crystal structure of the cytoplasmic domain of the type I TGF beta receptor in complex with FKBP12

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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

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The SWISS-MODEL Repository of annotated three-dimensional protein structure homology models

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

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

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Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

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Genomic instability in the type II TGF-beta1 receptor gene in atherosclerotic and restenotic vascular cells

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7 January 2021

Heterozygous TGFBR2 mutations in Marfan syndrome

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7 January 2021

High frequency of TGF-beta-receptor-II mutations in microdissected tissue samples from laryngeal squamous cell carcinomas.

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7 January 2021

Two-sided confidence intervals for the single proportion: comparison of seven methods

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Accounting for human polymorphisms predicted to affect protein function

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SIFT: Predicting amino acid changes that affect protein function

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

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7 January 2021

Human non-synonymous SNPs: server and survey

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SWISS-MODEL: An automated protein homology-modeling server

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7 January 2021

The FoldX web server: an online force field

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7 January 2021

Prediction of deleterious human alleles

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7 January 2021

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

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7 January 2021

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway

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7 January 2021

Probable Inference, the Law of Succession, and Statistical Inference

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7 January 2021

Mechanism of activation of the TGF-beta receptor

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7 January 2021

Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function

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7 January 2021

Transforming growth factor beta type II receptor (TGF beta RII) mutation in gastric lymphoma without mutator phenotype

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7 January 2021

Loss of protein structure stability as a major causative factor in monogenic disease.

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20353

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18 April 2018

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18 April 2018