Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema-Reference-Cited by-同舟云学术

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Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema

Published:2018-03-15 Issue:1 Volume:94 Page:179-181
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Fastré E.¹,Lanteigne L-E.¹,Helaers R.¹,Giacalone G.²,Revencu N.³,Dionyssiou D.⁴,Demiri E.⁴,Brouillard P.¹,Vikkula M.¹⁵^ORCID

Affiliation:

1. Human Molecular Genetics, de Duve Institute; University of Louvain; Brussels Belgium

2. Lymfecentrum; AZ Sint-Maarten; Mechelen Belgium

3. Center for Human Genetics, Cliniques universitaires Saint-Luc; University of Louvain; Brussels Belgium

4. Department of Plastic Surgery, Papageorgiou Hospital; Aristotle University of Thessaloniki; Thessaloniki Greece

5. Walloon Excellence in Lifesciences and Biotechnology (WELBIO); University of Louvain; Bussels Belgium

Funder

Fonds pour la Formation à la Recherche dans l’Industrie et dans l’Agriculture

WELBIO

F.R.S.-FNRS

Lotterie Nationale of Belgium

FWB

BELSPO-IAP

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13204/fullpdf

Reference6 articles.

1. Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3;Brouillard;Hum Mol Genet,2017

2. Genetics of lymphatic anomalies;Brouillard;J Clin Invest,2014

3. 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;Gordon;Circ Res,2013

4. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease;Balboa-Beltran;J Med Genet,2014

5. Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1;Jha;Sci Rep,2017

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1. LYMPHOSCORE (Lymphoscintigraphy Scoring Reliability) Reliability of a New Qualitative and Semiquantitative Lymphoscintigraphy Scoring System for Primary Lymphedema;Clinical Nuclear Medicine;2024-06-25

2. Targeting lymphatic function in cardiovascular-kidney-metabolic syndrome: preclinical methods to analyze lymphatic function and therapeutic opportunities;Frontiers in Cardiovascular Medicine;2024-06-10

3. Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema;Journal of Clinical Investigation;2024-05-30

4. The role of key biomarkers in lymphatic malformation: An updated review;The Journal of Gene Medicine;2024-02

5. Prenatal Lymphedema: A Genotype-Phenotype Analysis;Journal of Vascular Anomalies;2024-01-05

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