Article
Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
European journal of human genetics : EJHG - 1 Apr 2010
Wouters Vinciane, Limaye Nisha, Uebelhoer Melanie, Irrthum Alexandre, Boon Laurence M, Mulliken John B, Enjolras Odile, Baselga Eulalia, Berg Jonathan, Dompmartin Anne, Ivarsson Sten A, Kangesu Loshan, Lacassie Yves, Murphy Jill, Teebi Ahmad S, Penington Anthony, Rieu Paul, Vikkula Miikka
Abstract excerpt
Mutations in the angiopoietin receptor TIE2/TEK have been identified as the cause for autosomal dominantly inherited cutaneomucosal venous malformation (VMCM). Thus far, two specific germline substitutions (R849W and Y897S), located in the kinase domain of TIE2, have been reported in five families. The mutations result in a fourfold increase in ligand-independent phosphorylation of the receptor. Here, we report...
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