|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
<b>Background:</b> Milroy disease (MD) is rare and autosomal dominant resulting from mutations of the vascular endothelial growth factor receptor-3 <i>(VEGFR-3 or FLT4)</i>, which leads to dysgenesis of the lymphatic system.
|
30941160 |
2019 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we focus on components of the Vegfr3 pathway, and how they are connected to Milroy disease and Hennekam syndrome.
|
29800868 |
2018 |
|
Milroy Disease
|
0.800 |
Biomarker
|
disease |
BEFREE |
<i>VEGFC</i>, which is a gene encoding the ligand for the vascular endothelial growth factor receptor 3 (VEGFR3/FLT4) and important for lymph vessel development during lymphangiogenesis, has been associated with a specific subtype of primary lymphedema.
|
30071673 |
2018 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Moreover, the VEGFR3 pathway is essential for lymphangiogenesis with mutations identified in hereditary primary lymphedema.
|
29447908 |
2018 |
|
Milroy Disease
|
0.800 |
Biomarker
|
disease |
BEFREE |
Conclusion A novel mutation associated with Milroy disease was identified in a Chinese family, expanding our knowledge of VEGFR3 gene function and providing a potential molecular target for treating hereditary lymphoedema.
|
29896974 |
2018 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.
|
26091405 |
2015 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a novel FLT4 gene mutation in a Chinese family with Milroy disease and present their clinical symptoms and MR lymphangiographic findings.
|
26714373 |
2015 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
This locus has been previously linked to congenital lymphedema, namely by the FLT4 gene.
|
26091405 |
2015 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel FLT4 mutation identified in a patient with Milroy disease.
|
25109169 |
2014 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss of extracellular response mediated by vascular endothelial growth factor receptor 3 (VEGFR-3) is associated with Milroy disease, and VEGFR-3 gene is mutated in around 70% of the cases diagnosed.
|
24744435 |
2014 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, a total of 58 different variants in FLT4, 20 of which are unpublished, have been observed in 95 families with MD.
|
23074044 |
2013 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To investigate the underlying cause in patients with clinical signs resembling Milroy disease in whom sequencing of the coding region of VEGFR3 did not reveal any pathogenic variation.
|
23410910 |
2013 |
|
Milroy Disease
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
To date, a total of 58 different variants in FLT4, 20 of which are unpublished, have been observed in 95 families with MD.
|
23074044 |
2013 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We used PCR and direct sequencing to analyze the region of the fms-related tyrosine kinase 4 (FLT4) gene encoding the "tyrosine-kinase domain" and the single exon of the forkhead box C2 (FOXC2) gene in 46 Italian probands with primary lymphedema, 42 of whom had familial forms.
|
22768468 |
2012 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Milroy's primary congenital lymphedema is a non-syndromic primary lymphedema caused mainly by autosomal dominant mutations in the FLT4 (VEGFR3) gene.
|
20555004 |
2010 |
|
Milroy Disease
|
0.800 |
Biomarker
|
disease |
BEFREE |
These data expand our understanding of the aetiology of congenital lymphoedema and suggest that large scale screening of VEGFR3 in all primary lymphoedema patients is necessary.
|
19289394 |
2009 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The likelihood of detecting VEGFR3 mutations in patients who have a phenotype which is not typical of Milroy disease is very small (<5%).
|
19002718 |
2009 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These data expand our understanding of the aetiology of congenital lymphoedema and suggest that large scale screening of VEGFR3 in all primary lymphoedema patients is necessary.
|
19289394 |
2009 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel VEGFR-3 missense mutation in a Chinese family with hereditary lymphedema type I.
|
17945164 |
2007 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In this report, we describe a novel VEGFR3 mutation in exon 22 in a four-generation family in which congenital lymphedema segregates in an autosomal dominant manner.
|
17458866 |
2007 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this report, we describe a novel VEGFR3 mutation in exon 22 in a four-generation family in which congenital lymphedema segregates in an autosomal dominant manner.
|
17458866 |
2007 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These data show that de novo VEGFR3 mutations may be present in patients without family history of congenital lymphedema.
|
16965327 |
2006 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the vascular endothelial growth factor receptor 3 (VEGFR3), also known as FLT4 gene, which encodes a lymphatic endothelial-specific tyrosine kinase receptor, have been identified as a genetic cause of HL-I.
|
16924388 |
2006 |
|
Milroy Disease
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the vascular endothelial growth factor receptor 3 (VEGFR3), also known as FLT4 gene, which encodes a lymphatic endothelial-specific tyrosine kinase receptor, have been identified as a genetic cause of HL-I.
|
16924388 |
2006 |
|
Milroy Disease
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These data show that de novo VEGFR3 mutations may be present in patients without family history of congenital lymphedema.
|
16965327 |
2006 |