Characterization of ANGPT2 mutations associated with primary lymphedema-Reference-Cited by-同舟云学术

Characterization of ANGPT2 mutations associated with primary lymphedema

Published:2020-09-09 Issue:560 Volume:12 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Leppänen Veli-Matti¹²^ORCID,Brouillard Pascal³^ORCID,Korhonen Emilia A.¹^ORCID,Sipilä Tuomas¹,Jha Sawan Kumar²^ORCID,Revencu Nicole⁴^ORCID,Labarque Veerle⁵,Fastré Elodie³,Schlögel Matthieu³^ORCID,Ravoet Marie⁴,Singer Amihood⁶,Luzzatto Claudia⁷^ORCID,Angelone Donatella⁸^ORCID,Crichiutti Giovanni⁹^ORCID,D’Elia Angela⁹,Kuurne Jaakko¹^ORCID,Elamaa Harri¹⁰^ORCID,Koh Gou Young¹¹¹²^ORCID,Saharinen Pipsa¹²^ORCID,Vikkula Miikka³¹³^ORCID,Alitalo Kari¹²^ORCID

Affiliation:

1. Wihuri Research Institute, Biomedicum Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland.

2. Translational Cancer Medicine Program, Faculty of Medicine and Helsinki Institute of Life Science, 00014 University of Helsinki, Finland.

3. Human Molecular Genetics, de Duve Institute, University of Louvain, 1200 Brussels, Belgium.

4. Center for Human Genetics, Cliniques universitaires Saint-Luc, University of Louvain, 1200 Brussels, Belgium.

5. Centre for Molecular and Vascular Biology, University of Leuven, 3000 Leuven, Belgium.

6. Barzilai Medical Center, 78306 Ashekelon, Israel.

7. Padova University Hospital, 35128 Padova, Italy.

8. A. Gemelli Hospital, 00168 Roma, Italy.

9. Azienda Ospedaliero-Universitaria Santa Maria della Misericordia, 33100 Udine, Italy.

10. Oulu Centre for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, 90220 Oulu, Finland.

11. Center for Vascular Research, Institute of Basic Science (IBS), 34141 Daejeon, Republic of Korea.

12. Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), 34141 Daejeon, Republic of Korea.

13. Walloon Excellence in Lifesciences and Biotechnology (WELBIO), University of Louvain, 1200 Brussels, Belgium.

Abstract

Loss-of-function mutations in the TIE2-ligand angiopoietin 2 are associated with primary lymphedema in humans.

Funder

H2020 European Research Council

Fonds De La Recherche Scientifique - FNRS

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

Academy of Finland

Fund Generet managed by the King Baudouin Foundation

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

Reference57 articles.

1. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema

2. Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase

3. Lymphangiogenesis in development and human disease

4. GATA2 is required for lymphatic vessel valve development and maintenance

5. Genetics of lymphatic anomalies

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