|
Loeys-Dietz Syndrome
|
1.000 |
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 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
TGFBR2 and TGFBR1 mutations were identified in a subset of patients with MFS (MFS2, OMIM #154705) and other MFS-related disorders, including Loeys-Dietz syndrome (LDS, #OMIM 609192) and familial thoracic aortic aneurysms and dissections (TAAD2, #OMIM 608987).
|
17061023 |
2007 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
|
16799921 |
2006 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate that patients with Loeys-Dietz syndrome (LDS), an autosomal dominant disorder caused by mutations in the genes encoding receptor subunits for TGFβ, TGFBR1 and TGFBR2, are strongly predisposed to develop allergic disease, including asthma, food allergy, eczema, allergic rhinitis, and eosinophilic gastrointestinal disease.
|
23884466 |
2013 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loeys-Dietz Syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with multisystem involvement, caused by heterozygous mutations of transforming growth factor beta receptor type 1 (TGFBR1) or type 2 (TGFBR2) genes.
|
20101701 |
2010 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling.
|
29392890 |
2018 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study describes the generation of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells obtained from an LDS patient with TGFBR2 mutation (R193W).
|
28395736 |
2017 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Aortic dilatation/dissection (AD) can occur spontaneously or in association with genetic syndromes, such as Marfan syndrome (MFS; caused by FBN1 mutations), MFS type 2 and Loeys-Dietz syndrome (associated with TGFBR1/TGFBR2 mutations), and Ehlers-Danlos syndrome (EDS) vascular type (caused by COL3A1 mutations).
|
20648054 |
2010 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
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 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This article serves to report an illustrative case of Loeys-Dietz syndrome and reviews the phenotypic consequences of FBN1 and TGFBR1 and TGFBR2 gene mutations.
|
18377530 |
2006 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loeys-Dietz syndrome (LDS) is a rare autosomal-dominant connective tissue disorder caused by heterozygous mutations in the genes encoding transforming growth factor beta receptor 1 or 2 (TGFBR1 or TGFBR2).
|
22095581 |
2012 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder resulting from genetic mutations in the transforming growth factor beta receptors 1 and 2 (TGFBR1 and TGFBR2).
|
18852674 |
2009 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The relationship between LDS and dAVF is unknown but this report shows the possibility that mutation of transforming growth factor β receptors 2 ( TGFBR2) related to LDS may be related to shunt diseases.
|
28304197 |
2017 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygosity for mutations in the TGFBR1 or TGFBR2 genes cause Loeys-Dietz syndrome (LDS) types 2A and 2B that overlap with MFS1 in their clinical features.
|
19159394 |
2009 |
|
Loeys-Dietz Syndrome
|
1.000 |
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 |
|
Loeys-Dietz Syndrome
|
1.000 |
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 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TGFBR2 mutations can also cause TAAD in the absence of features of LDS in large multigenerational families, yet only sporadic LDS cases or parent-child pairs with TGFBR1 mutations have been reported to date.
|
19542084 |
2009 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our data suggest that TGFBR2 haploinsufficiency may cause a phenotype, which is distinct from LDS.
|
21567932 |
2011 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder caused by mutations in the transforming growth factor β (TGF-β) receptors TGFBR1 or TGFBR2.
|
25116393 |
2014 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loeys-Dietz syndrome (LDS, OMIM # 609192) caused by heterozygous mutations in TGFBR1 and TGFBR2 has recently been described as an important cause of familial aortic aneurysms.
|
20358619 |
2010 |
|
Loeys-Dietz Syndrome
|
1.000 |
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 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, a mouse genetics approach has also been used to investigate the disease pathogenesis of Loeys-Dietz syndrome, a familial autosomal dominant human disorder characterized by a dilated aortic root, and associated with mutations in the two TGFβ signaling receptor genes, TGFBR1 and TGFBR2.
|
21538815 |
2011 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report two novel mutations in the TGFBR1 and TGFBR2 genes in two patients affected with LDS and showing marked phenotypic variability.
|
19883511 |
2009 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
TGFBR2 c.1133G>T mutation was observed in mutation analysis, which was reported to be associated with Loeys-Dietz syndrome.
|
31045834 |
2019 |
|
Loeys-Dietz Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Here, we present a comprehensive and quantitative analysis of TGFBR2 expression, turnover and TGF-β-induced Smad and ERK signaling activity for nine mutations identified in patients with LDS, MFS2 and TAAD.
|
21098638 |
2010 |