|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Panel-based targeted next-generation sequencing was used to analyze the FBN1, TGFBR1 and TGFBR2 genes in 123 unrelated Chinese individuals with MFS or a related disease.
|
31098894 |
2019 |
|
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 |
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 |
|
Marfan Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
In conclusion, our data reappraise the role of TGFBR1 and TGFBR2 as major genes in patients with MFS, and suggest that TGFBR1/2 genetic variants (in particular when evaluated as a burden by score) might play a role in modulating the severity of cardiovascular manifestation in MFS.
|
28847661 |
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 |
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 |
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 |
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 |
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 |
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 |
Mutations in FBN1, TGFBR1, TGFBR2 are known to cause Marfan syndrome (MIM 154700), a pleiotropic disorder.
|
20538085 |
2011 |
|
Marfan Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes FBN1, TGFBR1, and TGFBR2 can result in heritable connective tissue disorders comprising the Marfan syndrome and the Loeys-Dietz syndrome.
|
20662850 |
2011 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome, a human disease involving cardiovascular and skeletal apparatuses and ocular and central nervous systems, is associated to mutations in FBN1 gene; heterozygous mutations in TGFBR2 and TGFBR1 genes were found associated to MFS type 2, characterized by the presence of skeletal and cardiovascular major criteria and absence of eye major criterion.
|
17936924 |
2009 |
|
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 |
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 |
LHGDN |
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 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding fibrillin-1 (FBN1) and transforming growth factor beta receptor type II (TGFBR2) are known causes of Marfan syndrome (MFS) and related disorders.
|
17418587 |
2007 |
|
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 |
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 |
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 |