A new locus-specific database (LSDB) for mutations in theTGFBR2gene: UMD-TGFBR2 (Q59409770)

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8 January 2020

title

A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2 (English)

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8 January 2020

4

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8 January 2020

Christophe Beroud

7

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8 January 2020

Gwenaëlle Collod-Béroud

8

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8 January 2020

author name string

Melissa Yana Frederic

1

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8 January 2020

Dalil Hamroun

2

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8 January 2020

Laurence Faivre

3

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8 January 2020

Guillaume Jondeau

5

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8 January 2020

Mireille Claustres

6

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8 January 2020

publication date

1 January 2008

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8 January 2020

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8 January 2020

volume

29

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8 January 2020

issue

1

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8 January 2020

page(s)

33-38

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Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations

8 January 2020

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7 January 2021

Activation of signalling by the activin receptor complex

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7 January 2021

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

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7 January 2021

UMD (Universal Mutation Database): 2005 update

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Molecular genetics of Marfan syndrome

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

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7 January 2021

Identification of a Drosophila activin receptor

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7 January 2021

Software and database for the analysis of mutations in the human FBN1 gene

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7 January 2021

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

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7 January 2021

Marfan Database (third edition): new mutations and new routines for the software

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7 January 2021

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

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7 January 2021

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

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Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

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7 January 2021

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

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

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The protein kinase family: conserved features and deduced phylogeny of the catalytic domains

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A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

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7 January 2021

Amino acid substitution matrices from protein blocks

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7 January 2021

A human transforming growth factor-beta type II receptor that contains an insertion in the extracellular domain

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7 January 2021

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

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7 January 2021

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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7 January 2021

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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7 January 2021

Molecular pathology of Shprintzen-Goldberg syndrome

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7 January 2021

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

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7 January 2021

Severe aortic and arterial aneurysms associated with a TGFBR2 mutation

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Aneurysm syndromes caused by mutations in the TGF-beta receptor

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7 January 2021

Mutations of the transforming growth factor-beta type II receptor gene and genomic instability in hereditary nonpolyposis colorectal cancer.

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7 January 2021

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

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7 January 2021

Positive and negative regulation of type II TGF-beta receptor signal transduction by autophosphorylation on multiple serine residues

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7 January 2021

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

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7 January 2021

Receptors for the TGF-β family

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7 January 2021

TGF-beta signal transduction

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7 January 2021

Transforming growth factor receptor gene TGFBR2 maps to human chromosome band 3p22.

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7 January 2021

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

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7 January 2021

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome

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7 January 2021

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms

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7 January 2021

Heterozygous TGFBR2 mutations in Marfan syndrome

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7 January 2021

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

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7 January 2021

The molecular genetics of Marfan syndrome and related disorders

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7 January 2021

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes

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7 January 2021

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

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7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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7 January 2021

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

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7 January 2021

Cloning of an isoform of mouse TGF-beta type II receptor gene.

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7 January 2021

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7 January 2021

Mutation analysis of coding sequences of the entire transforming growth factor beta type II receptor gene in sporadic human colon cancer using genomic DNA and intron primers

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7 January 2021

Signal transduction by receptors with tyrosine kinase activity

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7 January 2021

Genetic testing in patients with aortic aneurysms/dissections: a novel genotype/phenotype correlation?

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7 January 2021

Biosynthesis of the type I and type II TGF-beta receptors. Implications for complex formation

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7 January 2021

Mechanism of activation of the TGF-beta receptor

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7 January 2021

Two distinct transmembrane serine/threonine kinases from Drosophila melanogaster form an activin receptor complex

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20602

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17935258%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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