|
Marfan Syndrome
|
0.200 |
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
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Five LDS patients had either TGFBR1 or TGFBR2 variants, of which 1 patient identified TGFBR1 variant uncertain significance.The revised Ghent criteria had very high clinical applicability for detecting FBN1 variants in patients with MFS and might help in selecting patients with suspected MFS for genetic testing.
|
29768367 |
2018 |
|
Marfan Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We investigated 75 unrelated patients with MFS referred to the Center for Marfan Syndrome and Related Disorders (Careggi University Hospital, Florence) who were subjected to FBN1 and TGFBR1/2 Sanger mutational screening.
|
28847661 |
2018 |
|
Marfan Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis of TGFBR1*6A variant in individuals evaluated for Marfan syndrome.
|
27112580 |
2016 |
|
Marfan Syndrome
|
0.200 |
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
|
0.200 |
Biomarker
|
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FBN1, TGFBR1, TGFBR2 are known to cause Marfan syndrome (MIM 154700), a pleiotropic disorder.
|
20538085 |
2011 |
|
Marfan Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This distinguishes MSSE from the Marfan syndrome-related disorders in which missense mutations in TGFBR1 lead to developmental defects with vascular involvement but no reported predisposition to cancer.
|
21358634 |
2011 |
|
Marfan Syndrome
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We hypothesize that TGFBR1 sequence variants may act not only as major, but also as low penetrance alleles of the clinical phenotype in Marfan syndrome.
|
17936924 |
2009 |
|
Marfan Syndrome
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection.
|
18781618 |
2008 |
|
Marfan Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection.
|
18781618 |
2008 |
|
Marfan Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2.
|
17487218 |
2007 |
|
Marfan Syndrome
|
0.200 |
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
|
0.200 |
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
|
0.200 |
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
|
0.200 |
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
|
0.200 |
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
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|