Literature DB >> 29542815

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

E Fastré1, L-E Lanteigne1, R Helaers1, G Giacalone2, N Revencu3, D Dionyssiou4, E Demiri4, P Brouillard1, M Vikkula1,5.   

Abstract

Entities:  

Keywords:  VEGFR3; lymphatic; mutation; primary lymphedema

Mesh：

Substances：

Year:  2018        PMID： 29542815     DOI： 10.1111/cge.13204

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  Prioritization of genes involved in endothelial cell apoptosis by their implication in lymphedema using an analysis of associative gene networks with ANDSystem.

Authors:  Olga V Saik; Vadim V Nimaev; Dilovarkhuja B Usmonov; Pavel S Demenkov; Timofey V Ivanisenko; Inna N Lavrik; Vladimir A Ivanisenko
Journal:  BMC Med Genomics       Date:  2019-03-13       Impact factor: 3.063

2.  A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon.

Authors:  Noeline Nadarajah; Dörte Schulte; Vivienne McConnell; Silvia Martin-Almedina; Christina Karapouliou; Peter S Mortimer; Steve Jeffery; Stefan Schulte-Merker; Kristiana Gordon; Sahar Mansour; Pia Ostergaard
Journal:  Int J Mol Sci       Date:  2018-08-01       Impact factor: 5.923

3.  Investigation on the role of biallelic variants in VEGF-C found in a patient affected by Milroy-like lymphedema.

Authors:  Sylvain Mukenge; Sawan K Jha; Marco Catena; Elena Manara; Veli-Matti Leppänen; Elisa Lenti; Daniela Negrini; Matteo Bertelli; Andrea Brendolan; Michael Jeltsch; Luca Aldrighetti
Journal:  Mol Genet Genomic Med       Date:  2020-06-26       Impact factor: 2.183

Review 4.  Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis.

Authors:  Kristiana Gordon; Ruth Varney; Vaughan Keeley; Katie Riches; Steve Jeffery; Malou Van Zanten; Peter Mortimer; Pia Ostergaard; Sahar Mansour
Journal:  J Med Genet       Date:  2020-05-14       Impact factor: 6.318

5.  Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing.

Authors:  Soo Hyun Seo; Seungjun Lee; Joseph Kyu-Hyung Park; Eun Joo Yang; Boram Kim; Jee-Soo Lee; Man Jin Kim; Sung Sup Park; Moon-Woo Seong; Sun-Young Nam; Chan-Yeong Heo; Yujin Myung
Journal:  Sci Rep       Date:  2022-08-10       Impact factor: 4.996
  5 in total

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