首页> The Journal of clinical investigation> Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.

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

导出 OA

翻译打印收藏纠错

第一作者： Pascal,Brouillard

第一单位： Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.

作者： Pascal,Brouillard ^[1] ; Aino,Murtomäki ^[2] ; Veli-Matti,Leppänen ^[2] ; Marko,Hyytiäinen ^[2] ; Sandrine,Mestre ^[3] ; Lucas,Potier ^[1] ; Laurence M,Boon ^[4] ; Nicole,Revencu ^[5] ; Arin,Greene ^[6] ; Andrey,Anisimov ^[2] ; Miia H,Salo ^[7] ; Reetta,Hinttala ^[7] ; Lauri,Eklund ^[8] ; Isabelle,Quéré ^[3] ; Kari,Alitalo ^[2] ; Miikka,Vikkula ^[9]

作者单位： Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium. ^[1] Wihuri Research Institute, Biomedicum Helsinki, Helsinki, Finland.;Translational Cancer Medicine Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland. ^[2] Department of Vascular Medicine, Centre de Référence des Maladies Lymphatiques et Vasculaires Rares, Inserm IDESP, CHU Montpellier, Université de Montpellier, Montpellier, France. ^[3] Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.;Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, University of Louvain, VASCERN-VASCA Reference Centre, Brussels, Belgium. ^[4] Center for Human Genetics, Cliniques Universitaires Saint-Luc, University of Louvain, Brussels, Belgium. ^[5] Department of Plastic and Oral Surgery, Lymphedema Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. ^[6] Biocenter Oulu, Research Unit of Clinical Medicine and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland. ^[7] Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland. ^[8] Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.;WELBIO department, WEL Research Institute, Wavre, Belgium. ^[9]

关键词 Genetic diseases Genetics Lymph Mouse models Vascular biology