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03.02.2018 | Original Paper

Somatic NRAS mutation in patient with generalized lymphatic anomaly

verfasst von: Eugenia Manevitz-Mendelson, Gil S. Leichner, Ortal Barel, Inbal Davidi-Avrahami, Limor Ziv-Strasser, Eran Eyal, Itai Pessach, Uri Rimon, Aviv Barzilai, Abraham Hirshberg, Keren Chechekes, Ninette Amariglio, Gideon Rechavi, Karina Yaniv, Shoshana Greenberger

Erschienen in: Angiogenesis | Ausgabe 2/2018

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Abstract

Generalized lymphatic anomaly (GLA or lymphangiomatosis) is a rare disease characterized by a diffuse proliferation of lymphatic vessels in skin and internal organs. It often leads to progressive respiratory failure and death, but its etiology is unknown. Here, we isolated lymphangiomatosis endothelial cells from GLA tissue. These cells were characterized by high proliferation and survival rates, but displayed impaired capacities for migration and tube formation. We employed whole exome sequencing to search for disease-causing genes and identified a somatic mutation in NRAS. We used mouse and zebrafish model systems to initially evaluate the role of this mutation in the development of the lymphatic system, and we studied the effect of drugs blocking the downstream effectors, mTOR and ERK, on this disease.

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Titel: Somatic NRAS mutation in patient with generalized lymphatic anomaly
verfasst von: Eugenia Manevitz-Mendelson
Gil S. Leichner
Ortal Barel
Inbal Davidi-Avrahami
Limor Ziv-Strasser
Eran Eyal
Itai Pessach
Uri Rimon
Aviv Barzilai
Abraham Hirshberg
Keren Chechekes
Ninette Amariglio
Gideon Rechavi
Karina Yaniv
Shoshana Greenberger
Publikationsdatum: 03.02.2018
Verlag: Springer Netherlands
Erschienen in: Angiogenesis / Ausgabe 2/2018
Print ISSN: 0969-6970
Elektronische ISSN: 1573-7209
DOI: https://doi.org/10.1007/s10456-018-9595-8

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