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Article

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

Human molecular genetics - 1 Nov 2017

Brouillard Pascal, Dupont Laura, Helaers Raphael, Coulie Richard, Tiller George E, Peeden Joseph, Colige Alain, Vikkula Miikka

Abstract excerpt

Primary lymphedema is due to developmental and/or functional defects in the lymphatic system. It may affect any part of the body, with predominance for the lower extremities. Twenty-seven genes have already been linked to primary lymphedema, either isolated, or as part of a syndrome. The proteins that they encode are involved in VEGFR3 receptor signaling. They account for about one third of all primary lymphedema...

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Source

Identifiers

PMID: 28985353
DOI: 10.1093/hmg/ddx297

Genes

ADAMTS3
CCBE1
VEGFC

Provenance

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Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.PMID 28985353Read ↗

In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.Semantic proximity Read ↗

Biallelic Splicing Variant c.12479+3A>G in FAT4 Causes Hennekam Lymphangiectasia-Lymphedema Syndrome 2.Semantic proximity Read ↗

Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial LymphedemaSemantic proximity Read ↗

Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.Semantic proximity Read ↗

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.Semantic proximity Read ↗

Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedemaSemantic proximity Read ↗

Recessive primary congenital lymphoedema caused by a <i>VEGFR3</i> mutationSemantic proximity Read ↗

<i>CCBE1</i> Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3–Mediated Vascular Endothelial Growth Factor-C ActivationSemantic proximity Read ↗

Mutation in vascular endothelial growth factor-C, a ligand for vascular endothelial growth factor receptor-3, is associated with autosomal dominant milroy-like primary lymphedema.Semantic proximity Read ↗

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.Semantic proximity Read ↗

A novel mutation in the conserved sequence of vascular endothelial growth factor receptor 3 leads to primary lymphoedema.Semantic proximity Read ↗

A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.Semantic proximity Read ↗

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