|
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes.
|
16835936 |
2006 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
|
21098638 |
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 |
CLINVAR |
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 |
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 |
Biomarker
|
disease |
MGD |
|
|
|
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
A molecular genetic analysis demonstrated a heterozygous missense mutation of the transforming growth factor-beta receptor II gene in both the patient and his father, which thus caused Loeys-Dietz syndrome.
|
18084123 |
2007 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A molecular genetic analysis demonstrated a heterozygous missense mutation of the transforming growth factor-beta receptor II gene in both the patient and his father, which thus caused Loeys-Dietz syndrome.
|
18084123 |
2007 |
|
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
|
15731757 |
2005 |
|
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 |