Publications:

The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.

International Journal Of Molecular Sciences

Nguyen, Vi V; Hochman, Marcelo M; Mihm, Martin C MC; Nelson, J Stuart JS; Tan, Wenbin W

Publication Date: 2019-05-07

Variant appearance in text: TEK: Y897H

PubMed Link: 31067686

Variant Present in the following documents:

• Main text
• ijms-20-02243.pdf

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Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.

Genes, Chromosomes & Cancer

Ten Broek, Roel W RW; Eijkelenboom, Astrid A; van der Vleuten, Carine J M CJM; Kamping, Eveline J EJ; Kets, Marleen M; Verhoeven, Bas H BH; Grünberg, Katrien K; Schultze Kool, Leo J LJ; Tops, Bastiaan B J BBJ; Ligtenberg, Marjolijn J L MJL; Flucke, Uta U

Publication Date: 2019-08

Variant appearance in text: TEK: 2689T>C

PubMed Link: 30677207

Variant Present in the following documents:

• Main text
• GCC-58-541.pdf

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A xenograft model for venous malformation.

Angiogenesis

Goines, Jillian J; Li, Xian X; Cai, Yuqi Y; Mobberley-Schuman, Paula P; Metcalf, Megan M; Fishman, Steven J SJ; Adams, Denise M DM; Hammill, Adrienne M AM; Boscolo, Elisa E

Publication Date: 2018-11

Variant appearance in text: TIE2: Y897H

PubMed Link: 29786783

Variant Present in the following documents:

• Main text
• 10456_2018_Article_9624.pdf

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Common and specific effects of TIE2 mutations causing venous malformations.

Human Molecular Genetics

Nätynki, Marjut M; Kangas, Jaakko J; Miinalainen, Ilkka I; Sormunen, Raija R; Pietilä, Riikka R; Soblet, Julie J; Boon, Laurence M LM; Vikkula, Miikka M; Limaye, Nisha N; Eklund, Lauri L

Publication Date: 2015-11-15

Variant appearance in text: TIE2: Y897H

PubMed Link: 26319232

Variant Present in the following documents:

• Main text

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Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.

Nature Genetics

Limaye, Nisha N; Wouters, Vinciane V; Uebelhoer, Melanie M; Tuominen, Marjut M; Wirkkala, Riikka R; Mulliken, John B JB; Eklund, Lauri L; Boon, Laurence M LM; Vikkula, Miikka M

Publication Date: 2009-01

Variant appearance in text: TIE2: Y897H

PubMed Link: 19079259

Variant Present in the following documents:

• Main text
• NIHMS103256-supplement-1.pdf
• nihms-103256.pdf

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