|
Marfan Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
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 |
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 |
Biomarker
|
disease |
CTD_human |
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 |
LHGDN |
Identification of TGFBR2 mutations in Marfan syndrome type II provided the direct evidence of the relation in humans.
|
15861007 |
2005 |
|
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 |
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 |
The recent identification of TGFBR2 mutations in Marfan syndrome II (MFSII) [Mizuguchi et al.
|
16596670 |
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 |
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 |
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 |
LHGDN |
Three patients with either TGFBR1 or TGFBR2 abnormality did not fulfill the Ghent criteria, but expressed some overlapping features of MFS and Loeys-Dietz syndrome (LDS).
|
16835936 |
2006 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In order to evaluate the contribution of FBN1, FBN2, TGFBR1, and TGFBR2 mutations to the Marfan syndrome (MFS) phenotype, the four genes were analyzed by direct sequencing in 49 patients with MFS or suspected MFS as a cohort study.
|
16835936 |
2006 |
|
Marfan Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This family provides further evidence that mutations in TGFbetaR2 cause a distinct syndrome that needs to be distinguished from Marfan syndrome to direct investigation and management of patients and shows the natural history, spectrum of clinical features and variable penetrance of this newly recognised condition.
|
16885183 |
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 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |