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Melanie Uebelhoer
Melanie Uebelhoer
Human Molecular Genetics, de Duve Institute, Université catholique de Louvain
Verified email at uclouvain.be
Title
Cited by
Cited by
Year
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations
N Limaye, V Wouters, M Uebelhoer, M Tuominen, R Wirkkala, JB Mulliken, ...
Nature genetics 41 (1), 118-124, 2008
4502008
Venous malformation: from causative mutations to murine model and targeted therapy
E Boscolo, N Limaye, L Huang, KT Kang, J Soblet, M Uebelhoer, ...
Journal of Clinical Investigation 10, x (x), 2015
230*2015
Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations
J Soblet, J Kangas, M Nätynki, A Mendola, R Helaers, M Uebelhoer, ...
Journal of Investigative Dermatology 137 (1), 207-216, 2017
1912017
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects
V Wouters, N Limaye, M Uebelhoer, A Irrthum, LM Boon, JB Mulliken, ...
European Journal of Human Genetics 18 (4), 414-420, 2009
1742009
Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations
J Soblet, N Limaye, M Uebelhoer, LM Boon, M Vikkula
Molecular Syndromology 4 (4), 179-183, 2013
1702013
Venous malformation-causative TIE2-mutations mediate an AKT-dependent decrease in PDGFB
M Uebelhoer, M Nätynki, J Kangas, A Mendola, HL Nguyen, J Soblet, ...
Human Molecular Genetics 22 (17), 3438-3448, 2013
1052013
Vascular Anomalies: From Genetics toward Models for Therapeutic Trials
M Uebelhoer, LM Boon, M Vikkula
Cold Spring Harbor Perspectives in Medicine 2 (8), 2012
782012
Cross-talk between signaling and metabolism in the vasculature
M Uebelhoer, ML Iruela-Arispe
Vascular pharmacology 83, 4-9, 2016
242016
Mapping metabolism: monitoring lactate dehydrogenase activity directly in tissue
D Jelinek, A Flores, M Uebelhoer, V Pasque, K Plath, ML Iruela-Arispe, ...
JoVE (Journal of Visualized Experiments), e57760, 2018
182018
VEGF-A Promotes Phosphorylation of Presenilin-1: Potential Consequences for the Regulation of Notch1 Signaling
M Uebelhoer, G Hernandez, M Papuc, S Banerjee, K Gu, ML Iruela-arispe
Arteriosclerosis, Thrombosis, and Vascular Biology 40 (Suppl_1), A536-A536, 2020
2020
TIE2 and cutaneomucosal venous malformation
N Limaye, M Uebelhoer, L Boon, JB Mulliken, M Vikkula
2015
Venous malformation-causative TIE2 mutations lead to an AKT-dependent decrease in PDGFB
N Limaye, M Uebelhoer, J Soblet, A Mendola, M Natynki, C Godfraind, ...
ANGIOGENESIS 16 (1), 262-262, 2013
2013
Pathogenic effects of TIE2-mutations causing venous malformation
M Uebelhoer
UCL, 2012
2012
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