日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema

TIE1 受体酪氨酸激酶功能丧失突变导致晚发型原发性淋巴水肿

Pascal Brouillard, Aino Murtomäki, Veli-Matti Leppänen, Marko Hyytiäinen, Sandrine Mestre, Lucas Potier, Laurence M Boon, Nicole Revencu, Arin Greene, Andrey Anisimov, Miia H Salo, Reetta Hinttala, Lauri Eklund, Isabelle Quéré, Kari Alitalo, Miikka Vikkula

Somatic Loss-of-Function PIK3R1 and Activating Non-hotspot PIK3CA Mutations Associated with Capillary Malformation with Dilated Veins (CMDV)

与扩张静脉毛细血管畸形 (CMDV) 相关的体细胞功能丧失 PIK3R1 和激活非热点 PIK3CA 突变

Martina De Bortoli, Angela Queisser, Van Cuong Pham, Anne Dompmartin, Raphaël Helaers, Simon Boutry, Cathy Claus, An-Katrien De Roo, Frank Hammer, Pascal Brouillard, Salim Abdelilah-Seyfried, Laurence M Boon, Miikka Vikkula

Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function

HGF基因的致病性变异会导致功能丧失,从而引发儿童期至晚年发病的原发性淋巴水肿。

Murat Alpaslan,Elodie Fastré,Sandrine Mestre,Arie van Haeringen,Gabriela M Repetto,Kathelijn Keymolen,Laurence M Boon,Florence Belva,Guido Giacalone,Nicole Revencu,Yves Sznajer,Katie Riches,Vaughan Keeley ,Sahar Mansour ,Kristiana Gordon ,Silvia Martin-Almedina,Sara Dobbins,Pia Ostergaard,Isabelle Quere,Pascal Brouillard,Miikka Vikkula

Splenectomy improves erythrocyte functionality in spherocytosis based on septin abundance, but not maturation defects

脾切除术可改善基于败血素丰度的球形红细胞增多症中的红细胞功能,但不能改善成熟缺陷

Anne-Sophie Cloos, Hélène Pollet, Amaury Stommen, Mauriane Maja, Maxime Lingurski, Bénédicte Brichard, Catherine Lambert, Patrick Henriet, Christophe Pierreux, Sébastien Pyr Dit Ruys, Patrick Van Der Smissen, Miikka Vikkula, Laurent Gatto, Manon Martin, Pascal Brouillard, Didier Vertommen, Donatienn

KRAS-driven model of Gorham-Stout disease effectively treated with trametinib

KRAS 驱动的 Gorham-Stout 病模型可通过曲美替尼有效治疗

Nassim Homayun-Sepehr, Anna L McCarter, Raphaël Helaers, Christine Galant, Laurence M Boon, Pascal Brouillard, Miikka Vikkula, Michael T Dellinger

Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation

阻断 VEGF-C 信号可抑制致癌 PIK3CA 突变引起的淋巴畸形

Ines Martinez-Corral #, Yan Zhang #, Milena Petkova, Henrik Ortsäter, Sofie Sjöberg, Sandra D Castillo, Pascal Brouillard, Louis Libbrecht, Dieter Saur, Mariona Graupera, Kari Alitalo, Laurence Boon, Miikka Vikkula, Taija Mäkinen

Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1

有效激活淋巴管生成生长因子 VEGF-C 需要 VEGF-C 的 C 端结构域和 CCBE1 的 N 端结构域

Sawan Kumar Jha, Khushbu Rauniyar, Terhi Karpanen, Veli-Matti Leppänen, Pascal Brouillard, Miikka Vikkula, Kari Alitalo, Michael Jeltsch

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3

ADAMTS3 活性丧失导致 Hennekam 淋巴管扩张-淋巴水肿综合征 3

Pascal Brouillard, Laura Dupont, Raphael Helaers, Richard Coulie, George E Tiller, Joseph Peeden, Alain Colige, Miikka Vikkula