Publications:

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The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.

International Journal Of Molecular Sciences

Butnariu, Lăcrămioara Ionela LI; Gorduza, Eusebiu Vlad EV; Florea, Laura L; Țarcă, Elena E; Moisă, Ștefana Maria ȘM; Trandafir, Laura Mihaela LM; Stoleriu, Simona S; Bădescu, Minerva Codruța MC; Luca, Alina-Costina AC; Popa, Setalia S; Radu, Iulian I; Cojocaru, Elena E

Publication Date: 2022-10-13

Variant appearance in text: TEK: Y897F

PubMed Link: 36293054

Variant Present in the following documents:

• Main text
• ijms-23-12199.pdf

View BVdb publication page

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Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.

Biomedicines

Diociaiuti, Andrea A; Rotunno, Roberta R; Pisaneschi, Elisa E; Cesario, Claudia C; Carnevale, Claudia C; Condorelli, Angelo Giuseppe AG; Rollo, Massimo M; Di Cecca, Stefano S; Quintarelli, Concetta C; Novelli, Antonio A; Zambruno, Giovanna G; El Hachem, May M

Publication Date: 2022-06-20

Variant appearance in text: TEK: Tyr897Phe

PubMed Link: 35740480

Variant Present in the following documents:

• Main text
• biomedicines-10-01460.pdf

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Bockenheimer disease is associated with a TEK variant.

Cold Spring Harbor Molecular Case Studies

Sudduth, Christopher L CL; Konczyk, Dennis J DJ; Smits, Patrick J PJ; Eng, Whitney W; Al-Ibraheemi, Alyaa A; Upton, Joseph J; Greene, Arin K AK

Publication Date: 2021-12

Variant appearance in text: TEK: 2690A>T; Tyr897Phe

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

View BVdb publication page

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Bockenheimer disease is associated with a TEK variant.

Cold Spring Harbor Molecular Case Studies

Sudduth, Christopher L CL; Konczyk, Dennis J DJ; Smits, Patrick J PJ; Eng, Whitney W; Al-Ibraheemi, Alyaa A; Upton, Joseph J; Greene, Arin K AK

Publication Date: 2021-12

Variant appearance in text: TEK: 2690A>T; Tyr897Phe

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

View BVdb publication page

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Constitutive Active Mutant TIE2 Induces Enlarged Vascular Lumen Formation with Loss of Apico-basal Polarity and Pericyte Recruitment.

Scientific Reports

Cai, Yuqi Y; Schrenk, Sandra S; Goines, Jillian J; Davis, George E GE; Boscolo, Elisa E

Publication Date: 2019-08-26

Variant appearance in text: TIE2: Y897F

PubMed Link: 31451744

Variant Present in the following documents:

• Main text
• 41598_2019_Article_48854.pdf

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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: Y897F

PubMed Link: 31067686

Variant Present in the following documents:

• Main text
• ijms-20-02243.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: Y897F

PubMed Link: 26319232

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variable Somatic TIE2 Mutations in Half of Sporadic Venous Malformations.

Molecular Syndromology

Soblet, J J; Limaye, N N; Uebelhoer, M M; Boon, L M LM; Vikkula, M M

Publication Date: 2013-04

Variant appearance in text: TIE2: 2690A>T

PubMed Link: 23801934

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Y897F

PubMed Link: 19079259

Variant Present in the following documents:

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

View BVdb publication page

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