|
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 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.
|
16283890 |
2005 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).
|
27879313 |
2016 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS).
|
18852674 |
2009 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.
|
18781618 |
2008 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects.
|
12975342 |
2003 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys-Dietz syndrome (type I) and in 12 probands presenting with vascular Ehlers-Danlos syndrome (Loeys-Dietz syndrome type II).
|
16928994 |
2006 |
|
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 |
Biomarker
|
disease |
CTD_human |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
TGFβ receptor mutations impose a strong predisposition for human allergic disease.
|
23884466 |
2013 |
|
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 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor beta receptor 2 mutations.
|
22095581 |
2012 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
|
17935258 |
2008 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
TGFβ receptor mutations impose a strong predisposition for human allergic disease.
|
23884466 |
2013 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loeys-Dietz syndrome (LDS) is a connective tissue disorder caused by monoallelic mutations in TGFBR1 and TGFBR2, which encode for subunits of the transforming growth factor beta (TGFβ) receptor.
|
24333532 |
2014 |