|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
|
19533785 |
2009 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FBN1 and TGFBR2 genes are the main causative mutations identified in Marfan syndrome (MFS).
|
22310065 |
2012 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
By excluding the chromosome 15 disease locus, fibrillin 1 (FBN1), in a large French family with typical cardiovascular and skeletal anomalies, we raised the issue of genetic heterogeneity in MFS and the implication of a second locus (MFS2).
|
7632217 |
1994 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in TGFBR1 and TGFBR2 (transforming growth factor beta receptors 1 and 2, respectively) have been shown to result in Loeys-Dietz syndrome, a connective tissue disorder with significant phenotypic overlap with Marfan syndrome.
|
18377530 |
2006 |
|
Marfan Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recently, mutations in the genes required for transforming growth factor-beta signaling (TGFBR1 and TGFBR2) have been found in several disorders with varying degrees of overlap with classical MFS, including Loeys-Dietz syndrome and familial thoracic aortic aneurysms and dissections.
|
19772952 |
2010 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.
|
16791849 |
2006 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected of being affected with Marfan syndrome or related disorders that had been referred to our laboratory for molecular diagnosis.
|
18781618 |
2008 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although the disease has some phenotypic overlap with Marfan syndrome, the disease, that is caused by mutations in the transforming growth factor beta-receptor 1 (TGFBR1) or transforming growth factor beta-receptor 2 (TGFBR2) genes, presents many distinctive features and a particularly aggressive cardiovascular course.
|
16981219 |
2006 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
|
19996017 |
2009 |
|
Marfan Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding transforming growth factor-beta receptor types I and II (TGFBR1 and TGFBR2, respectively) are commonly identified in patients with Loeys-Dietz syndrome, as well as some patients with Marfan's syndrome or familial thoracic aortic aneurysms and dissections.
|
18721526 |
2008 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The implication of mutations in the TGFBR2 gene, known to be involved in cancers, in Marfan syndrome (MFS) and later in Loeys-Dietz syndrome (LDS) and Familial Thoracic Aortic Aneurysms and Dissections (TAAD2) gives a new example of the complexity of one gene involved in multiple diseases.
|
17935258 |
2008 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We searched for TGFBR1 and TGFBR2 mutations in 41 unrelated patients fulfilling the diagnostic criteria of Ghent nosology or with the tentative diagnosis of Marfan syndrome, in whom mutations in the FBN1 coding region were not identified.
|
16799921 |
2006 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Additional genes in the TGFβ network include FBN1, TGFBR1, and TGFBR2, mutations of which cause either Marfan syndrome (MFS) or Loeys-Dietz syndrome (LDS), respectively.
|
21465659 |
2011 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Database analysis of three German metropolitan regions identified 30 patients with LDS and TGFBR1 mutation in 6 and a TGFBR2 mutation in 24 individuals (17 men; mean age: 31 ± 19 years), as well as 60 age and sex-matched control patients with Marfan syndrome carrying a FBN1 mutation.
|
24344637 |
2014 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We found TGFBR2 mutations in 4 unrelated families with familial TAAD who did not have Marfan syndrome.
|
16027248 |
2005 |
|
Marfan Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
ATAA samples taken during aortic replacement from age-matched MFS (n=9) and non-MFS (n=18) patients were assessed for representative subtypes of all MMP classes, all 4 known TIMPs, and type 2 TGF-beta receptors (TGFBR2).
|
16820601 |
2006 |
|
Marfan Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our data support the recently reported association between TGFBR2 gene and MFS without major ocular signs (MFS2).
|
16251899 |
2006 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Moreover, in 4 families linkage with the FBN1 and TGFBR2 genes was excluded, and no mutations were identified in the coding region of TGFBR1, indicating the existence of other genes involved in MFS.
|
21789464 |
2011 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genomic DNA from peripheral blood leukocytes of a Chinese proband with Marfan syndrome, five of the proband's relatives, and 100 unrelated Chinese control subjects were isolated and screened for fibrillin-1 (FBN1) and TGFBR2 gene mutations by direct sequencing, and a genotype-phenotype study was performed following a review of the literature on TGFBR2 mutations in the search area.
|
22259224 |
2012 |
|
Marfan Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Identification of a 3p24.1 chromosomal breakpoint disrupting the gene encoding TGF-beta receptor 2 (TGFBR2) in a Japanese individual with Marfan syndrome led us to consider TGFBR2 as the gene underlying association with Marfan syndrome at the MSF2 locus.
|
15235604 |
2004 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
|
21098638 |
2010 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we performed an MLPA (multiplex ligation-dependent probe amplification) test to detect large deletions and/or duplications in FBN1 and TGFBR2 in 115 unrelated Chinese patients with suspected MFS or early-onset aneurysm/dissection.
|
30286810 |
2018 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In young MFS mice with and without superimposed deletion of SMC-TBRII, we measured aortic dimensions, histopathology, activation of aortic SMC TGF-β signaling pathways, and changes in aortic SMC gene expression.
|
28119285 |
2017 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FBN1, TGFBR1, TGFBR2 are known to cause Marfan syndrome (MIM 154700), a pleiotropic disorder.
|
20538085 |
2011 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3).
|
29350460 |
2018 |