|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
We generated 2 knockin mouse strains with LDS mutations in either Tgfbr1 or Tgfbr2 and a transgenic mouse overexpressing mutant Tgfbr2.
|
24355923 |
2014 |
|
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 |
Biomarker
|
disease |
CLINGEN |
Cloning of a TGF beta type I receptor that forms a heteromeric complex with the TGF beta type II receptor.
|
8242743 |
1993 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
|
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 |
Features of multiple self-healing squamous epithelioma and Loeys-Dietz syndrome in a patient with a novel TGFBR1 variant.
|
30513140 |
2018 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Aortic dissection in a young man with Loeys-Dietz syndrome.
|
18455604 |
2008 |
|
Loeys-Dietz Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report a Japanese familial case of LDS with a novel splice donor site variant in TGFBR1 gene (c.973 + 1 G > A; NG_007461.1).
|
29706644 |
2018 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Clinical features were scored for each distinct gene and matched with literature data to strengthen genotype-phenotype correlations such as more severe vascular manifestations in <i>TGFBR1/2</i>-related LDS.
|
31569402 |
2019 |
|
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
CausalMutation
|
disease |
CLINVAR |
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
|
22113417 |
2012 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
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 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 |
Biomarker
|
disease |
CLINGEN |
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 |
Here, we present the medical history and surgical management of a patient with Loeys-Dietz syndrome type I caused by a mutation in M253I in the TGFBR1 gene who received complete aortic replacement and various peripheral vascular surgeries over the course of 25 years.
|
24792298 |
2014 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
|
21358634 |
2011 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
|
16799921 |
2006 |
|
Loeys-Dietz Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
|
21267002 |
2011 |
|
Loeys-Dietz Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
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 |
CLINVAR |
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 |