uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia

Autor: Omar Soukarieh, Emmanuelle Tillet, Carole Proust, Charlène Dupont, Béatrice Jaspard-Vinassa, Florent Soubrier, Aurélie Goyenvalle, Mélanie Eyries, David-Alexandre Trégouët

Publikováno v: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)

Abstract Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, autosomal dominant, vascular disorder. About 80% of cases are caused by pathogenic variants in ACVRL1 (also known as ALK1) and ENG, with the remaining cases being unexplained. We identif

Externí odkaz: https://doaj.org/article/db17dcabceb24f659a6d0a198c2d9022

BMP9, but not BMP10, acts as a quiescence factor on tumor growth, vessel normalization and metastasis in a mouse model of breast cancer

Autor: Marie Ouarné, Claire Bouvard, Gabriela Boneva, Christine Mallet, Johnny Ribeiro, Agnès Desroches-Castan, Emmanuelle Soleilhac, Emmanuelle Tillet, Olivier Peyruchaud, Sabine Bailly

Publikováno v: Journal of Experimental & Clinical Cancer Research, Vol 37, Iss 1, Pp 1-12 (2018)

Abstract Background Angiogenesis has become an attractive target for cancer therapy. However, despite the initial success of anti-VEGF (Vascular endothelial growth factor) therapies, the overall survival appears only modestly improved and resistance

Externí odkaz: https://doaj.org/article/eb7e53d2b5f4496c98fedda5fd0bd936

Differential Consequences of Bmp9 Deletion on Sinusoidal Endothelial Cell Differentiation and Liver Fibrosis in 129/Ola and C57BL/6 Mice

Autor: Agnès Desroches-Castan, Emmanuelle Tillet, Nicolas Ricard, Marie Ouarné, Christine Mallet, Jean-Jacques Feige, Sabine Bailly

Publikováno v: Cells, Vol 8, Iss 9, p 1079 (2019)

The aim of the present work was to address the role of BMP9 in different genetic backgrounds (C57BL/6, BALB/c, and 129/Ola) of mice deleted for Bmp9. We found that Bmp9 deletion led to premature mortality only in the 129/Ola strain. We have previousl

Externí odkaz: https://doaj.org/article/78bd6f57b3124a63bc7f25c119156822

Different cardiovascular and pulmonary phenotypes for single- and double-knock-out mice deficient in BMP9 and BMP10

Autor: Nihel Berrebeh, Emmanuelle Tillet, Hequn Liu, Christophe Guignabert, Ly Tu, Sabine Bailly, Christophe Battail, Martina Rossi, Nicolas Chaumontel, Marie Ouarné, Laurent Savale, Thomas Daubon, Marc Humbert, Agnès Desroches-Castan, Christine Mallet, Caroline Roelants, Elise Helfer, Claire Bouvard, Pascale Perret, Andreas Bikfalvi

Publikováno v: Cardiovascular Research
Cardiovascular Research, 2021, ⟨10.1093/cvr/cvab187⟩
Cardiovascular Research, 2021, pp.cvab187. ⟨10.1093/cvr/cvab187⟩
Cardiovascular Research, Oxford University Press (OUP), 2021, ⟨10.1093/cvr/cvab187⟩
Cardiovascular Research, Oxford University Press (OUP), 2021, pp.cvab187. ⟨10.1093/cvr/cvab187⟩

Aims BMP9 and BMP10 mutations were recently identified in patients with pulmonary arterial hypertension, but their specific roles in the pathogenesis of the disease are still unclear. We aimed to study the roles of BMP9 and BMP10 in cardiovascular ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d80d461b345d64ba507813f933802413
https://doi.org/10.1093/cvr/cvab187

Bone Morphogenetic Protein 9 Is a Paracrine Factor Controlling Liver Sinusoidal Endothelial Cell Fenestration and Protecting Against Hepatic Fibrosis

Autor: Lucid Belmudes, Olivier Boillot, Agnès Desroches-Castan, Jean-Jacques Feige, Jean-Yves Scoazec, Emmanuelle Tillet, Yohann Couté, Marie Ouarné, Nicolas Ricard, Sabine Bailly, Christine Mallet

Publikováno v: Hepatology (Baltimore, Md.)References. 70(4)

Bone morphogenetic protein 9 (BMP9) is a circulating factor produced by hepatic stellate cells that plays a critical role in vascular quiescence through its endothelial receptor activin receptor-like kinase 1 (ALK1). Mutations in the gene encoding AL

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71f0c5ca1d478f5268382dde446cebc
https://pubmed.ncbi.nlm.nih.gov/30964206