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 |
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 |
Biomarker
|
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 |
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, also human fibroblasts from Marfan (FBN1) and LDS (TGFBR2 and SMAD3) patients showed lower oxygen consumption.
|
29931197 |
2018 |
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.
|
28182693 |
2017 |
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 |
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 |
Neonatal assessment showed craniofacial and cardiovascular findings suggestive of LDS whose diagnosis was confirmed by the detection of a novel mutation (HGVN: NM_003242.5 (TGFBR2): c.1381T > C (p.(Cys461Arg))) in the TGFBR2 gene.
|
28344185 |
2017 |
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.
|
26888179 |
2016 |
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 |
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) 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 |
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe two novel mutations in TGFBR2 leading to LDS; PDA is common in our patients and can be safely occluded via transcatheter procedure.
|
24146167 |
2014 |
Loeys-Dietz Syndrome
|
1.000 |
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 |
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TGF-β-Smad3 signaling in emphysema and pulmonary fibrosis: an epigenetic aberration of normal development?
|
23161884 |
2013 |
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 |
CausalMutation
|
disease |
CLINVAR |
Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report.
|
24220024 |
2013 |
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 |
GeneticVariation
|
disease |
CLINVAR |
TGFβ receptor mutations impose a strong predisposition for human allergic disease.
|
23884466 |
2013 |
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections.
|
22772377 |
2013 |
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The propositus had the prototypic features of Loeys-Dietz syndrome with a de novo mutation in TGFBR2.
|
23686861 |
2013 |
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
|
22772368 |
2012 |
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 |
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 |
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
|
22113417 |
2012 |