Publications:

---

ErbB signalling is a potential therapeutic target for vascular lesions with fibrous component.

Elife

Jauhiainen, Suvi S; Ilmonen, Henna H; Vuola, Pia P; Rasinkangas, Heta H; Pulkkinen, Heidi H HH; Keränen, Sara S; Kiema, Miika M; Liikkanen, Jade J JJ; Laham Karam, Nihay N; Laidinen, Svetlana S; Beter, Mustafa M; Aavik, Einari E; Lappalainen, Kimmo K; Lohi, Jouko J; Aronniemi, Johanna J; Örd, Tiit T; Kaikkonen, Minna U MU; Salminen, Päivi P; Tukiainen, Erkki E; Ylä-Herttuala, Seppo S; Laakkonen, Johanna P JP

Publication Date: 2023-05-18

Variant appearance in text: TEK: 2740C>T; L914F

PubMed Link: 37199488

Variant Present in the following documents:

• Main text
• elife-82543.pdf

View BVdb publication page

---

Clinical and molecular characteristics of kinase domain duplications across diverse cancer types in the Chinese population.

Cancer Medicine

Lai, Xiaojing X; Yu, Ruoying R; Ou, Qiuxiang Q; Bao, Hua H; Wu, Xue X; Shao, Yang Y; Li, Yang Y; Zhang, Ying Y; Ding, Qingqing Q

Publication Date: 2022-11-03

Variant appearance in text: TEK: 2740C>T; L914F

PubMed Link: 36325957

Variant Present in the following documents:

• CAM4-12-6009-s003.xlsx, sheet 1

View BVdb publication page

---

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: L914F

PubMed Link: 36293054

Variant Present in the following documents:

• Main text
• ijms-23-12199.pdf

View BVdb publication page

---

Light-activated gold nanorods for effective therapy of venous malformation.

Materials Today. Bio

Jiang, Yihong Y; Liu, Junchao J; Qin, Jinbao J; Lei, Jiahao J; Zhang, Xing X; Xu, Zhijue Z; Li, Weimin W; Liu, Xiaobing X; Wang, Ruihua R; Li, Bo B; Lu, Xinwu X

Publication Date: 2022-12

Variant appearance in text: TIE2: L914F

PubMed Link: 36052154

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

The onset of PI3K-related vascular malformations occurs during angiogenesis and is prevented by the AKT inhibitor miransertib.

Embo Molecular Medicine

Kobialka, Piotr P; Sabata, Helena H; Vilalta, Odena O; Gouveia, Leonor L; Angulo-Urarte, Ana A; Muixí, Laia L; Zanoncello, Jasmina J; Muñoz-Aznar, Oscar O; Olaciregui, Nagore G NG; Fanlo, Lucia L; Esteve-Codina, Anna A; Lavarino, Cinzia C; Javierre, Biola M BM; Celis, Veronica V; Rovira, Carlota C; López-Fernández, Susana S; Baselga, Eulàlia E; Mora, Jaume J; Castillo, Sandra D SD; Graupera, Mariona M

Publication Date: 2022-07-07

Variant appearance in text: TEK: 2740C>T; L914F

PubMed Link: 35695059

Variant Present in the following documents:

• EMMM-14-e15619-s005.pdf

View BVdb publication page

---

Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycin.

Molecular Genetics & Genomic Medicine

Adham, Salma S; Revencu, Nicole N; Mestre, Sandrine S; Nou-Howaldt, Monira M; Vernhet-Kovacsik, Hélène H; Quéré, Isabelle I

Publication Date: 2022-06

Variant appearance in text: TEK: 2740C>T

PubMed Link: 35426265

Variant Present in the following documents:

• Main text
• MGG3-10-e1931.pdf

View BVdb publication page

---

ISSVA Classification of Vascular Anomalies and Molecular Biology.

International Journal Of Molecular Sciences

Kunimoto, Kayo K; Yamamoto, Yuki Y; Jinnin, Masatoshi M

Publication Date: 2022-02-21

Variant appearance in text: TIE2: L914F

PubMed Link: 35216474

Variant Present in the following documents:

• ijms-23-02358.pdf

View BVdb publication page

---

Mosaicism and the taxonomy of human disease.

Cold Spring Harbor Molecular Case Studies

Biesecker, Leslie G LG

Publication Date: 2021-12

Variant appearance in text: TIE2: 2740C>T

PubMed Link: 34887311

Variant Present in the following documents:

• Main text
• MCS006163Bie.pdf

View BVdb publication page

---

MiR-18a-5p acts as a novel serum biomarker for venous malformation and promotes angiogenesis by regulating the thrombospondin-1/P53 signaling axis.

American Journal Of Translational Research

Zhang, Liming L; Wang, Deming D; Wang, Zhenfeng Z; Li, Xiao X; Xia, Weiya W; Han, Yifeng Y; Su, Lixin L; Fan, Xindong X

Publication Date: 2021

Variant appearance in text: TIE2: L914F

PubMed Link: 34786057

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Venous Malformations in Childhood: Clinical, Histopathological and Genetics Update.

Dermatopathology (Basel, Switzerland)

Colmenero, Isabel I; Knöpfel, Nicole N

Publication Date: 2021-10-15

Variant appearance in text: TIE2: L914F

PubMed Link: 34698142

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 2740C>T; L914F

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

View BVdb publication page

---

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: 2740C>T; L914F

PubMed Link: 34649969

Variant Present in the following documents:

• Main text
• MCS006119Sud.pdf

View BVdb publication page

---

Genetic syndromes with vascular malformations - update on molecular background and diagnostics.

Archives Of Medical Science : Ams

Ustaszewski, Adam A; Janowska-Głowacka, Joanna J; Wołyńska, Katarzyna K; Pietrzak, Anna A; Badura-Stronka, Magdalena M

Publication Date: 2021

Variant appearance in text: TEK: 2740C>T

PubMed Link: 34336026

Variant Present in the following documents:

• Main text
• AMS-17-4-95011.pdf

View BVdb publication page

---

Cell Populations Expressing Stemness-Associated Markers in Vascular Anomalies.

Frontiers In Surgery

Kilmister, Ethan J EJ; Hansen, Lauren L; Davis, Paul F PF; Hall, Sean R R SRR; Tan, Swee T ST

Publication Date: 2020

Variant appearance in text: TIE2: L914F

PubMed Link: 33634164

Variant Present in the following documents:

• Main text
• fsurg-07-610758.pdf

View BVdb publication page

---

Caveolae-mediated Tie2 signaling contributes to CCM pathogenesis in a brain endothelial cell-specific Pdcd10-deficient mouse model.

Nature Communications

Zhou, Huanjiao Jenny HJ; Qin, Lingfeng L; Jiang, Quan Q; Murray, Katie N KN; Zhang, Haifeng H; Li, Busu B; Lin, Qun Q; Graham, Morven M; Liu, Xinran X; Grutzendler, Jaime J; Min, Wang W

Publication Date: 2021-01-25

Variant appearance in text: TIE2: L914F

PubMed Link: 33495460

Variant Present in the following documents:

• 41467_2020_20774_MOESM2_ESM.pdf
• 41467_2020_Article_20774.pdf

View BVdb publication page

---

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.

Journal Of Clinical Medicine

Paolacci, Stefano S; Mattassi, Raul Ettore RE; Marceddu, Giuseppe G; Manara, Elena E; Zulian, Alessandra A; Guerri, Giulia G; De Antoni, Luca L; Arduino, Carlo C; Cavalca, Daniela D; Bertelli, Matteo M

Publication Date: 2020-10-22

Variant appearance in text: TEK: 2740C>T; Leu914Phe

PubMed Link: 33105631

Variant Present in the following documents:

• Main text
• jcm-09-03387.pdf

View BVdb publication page

---

Cellular and molecular mechanisms of PIK3CA-related vascular anomalies.

Vascular Biology (Bristol, England)

Le Cras, Timothy D TD; Boscolo, Elisa E

Publication Date: 2019

Variant appearance in text: TIE2: L914F

PubMed Link: 32923951

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Zenner, Kaitlyn K; Jensen, Dana M DM; Cook, Tori T TT; Dmyterko, Victoria V; Bly, Randall A RA; Ganti, Sheila S; Mirzaa, Ghayda M GM; Dobyns, William B WB; Perkins, Jonathan A JA; Bennett, James T JT

Publication Date: 2021-01

Variant appearance in text: TEK: 2740C>T; Leu914Phe

PubMed Link: 32884133

Variant Present in the following documents:

• nihms-1630819.pdf

View BVdb publication page

---

AKT/FOXO1 axis links cross-talking of endothelial cell and pericyte in TIE2-mutated venous malformations.

Cell Communication And Signaling : Ccs

Si, Yameng Y; Huang, Jiadong J; Li, Xiang X; Fu, Yu Y; Xu, Rongyao R; Du, Yifei Y; Cheng, Jie J; Jiang, Hongbing H

Publication Date: 2020-08-31

Variant appearance in text: TIE2: L914F

PubMed Link: 32867785

Variant Present in the following documents:

• Main text
• 12964_2020_Article_606.pdf

View BVdb publication page

---

A Xenograft Model for Venous Malformation.

Methods In Molecular Biology (Clifton, N.J.)

Goines, Jillian J; Boscolo, Elisa E

Publication Date: 2021

Variant appearance in text: TIE2: L914F

PubMed Link: 32754818

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L914F

PubMed Link: 31451744

Variant Present in the following documents:

• Main text
• 41598_2019_48854_MOESM1_ESM.pdf
• 41598_2019_Article_48854.pdf

View BVdb publication page

---

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: L914F

PubMed Link: 31067686

Variant Present in the following documents:

• Main text
• ijms-20-02243.pdf

View BVdb publication page

---

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: 2740C>T

PubMed Link: 30677207

Variant Present in the following documents:

• Main text
• GCC-58-541.pdf

View BVdb publication page

---

Ponatinib Combined With Rapamycin Causes Regression of Murine Venous Malformation.

Arteriosclerosis, Thrombosis, And Vascular Biology

Li, Xian X; Cai, Yuqi Y; Goines, Jillian J; Pastura, Patricia P; Brichta, Lars L; Lane, Adam A; Le Cras, Timothy D TD; Boscolo, Elisa E

Publication Date: 2019-03

Variant appearance in text: TIE2: L914F

PubMed Link: 30626204

Variant Present in the following documents:

• Main text
• atv-39-496-s002.pdf
• atv-39-496.pdf
• atv-39-496-s001.pdf

View BVdb publication page

---

Angiopoietin-4-dependent venous maturation and fluid drainage in the peripheral retina.

Elife

Elamaa, Harri H; Kihlström, Minna M; Kapiainen, Emmi E; Kaakinen, Mika M; Miinalainen, Ilkka I; Ragauskas, Symantas S; Cerrada-Gimenez, Marc M; Mering, Satu S; Nätynki, Marjut M; Eklund, Lauri L

Publication Date: 2018-11-16

Variant appearance in text: TIE2: L914F

PubMed Link: 30444491

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 2740C>T

PubMed Link: 29786783

Variant Present in the following documents:

• Main text
• 10456_2018_9624_MOESM1_ESM.pdf
• 10456_2018_Article_9624.pdf

View BVdb publication page

---

Embryonic Stem Cell-Like Subpopulations in Venous Malformation.

Frontiers In Medicine

Tan, Elysia M S EMS; Siljee, Sam Duro SD; Brasch, Helen D HD; Enriquez, Susana S; Tan, Swee T ST; Itinteang, Tinte T

Publication Date: 2017

Variant appearance in text: TIE2: L914F

PubMed Link: 29046873

Variant Present in the following documents:

• Main text
• fmed-04-00162.pdf

View BVdb publication page

---

Vascular Anomalies Caused by Abnormal Signaling within Endothelial Cells: Targets for Novel Therapies.

Seminars In Interventional Radiology

Nguyen, Ha-Long HL; Boon, Laurence M LM; Vikkula, Miikka M

Publication Date: 2017-09

Variant appearance in text: TIE2: L914F

PubMed Link: 28955112

Variant Present in the following documents:

• Main text

View BVdb publication page

---

One reporter for in-cell activity profiling of majority of protein kinase oncogenes.

Elife

Gudernova, Iva I; Foldynova-Trantirkova, Silvie S; Ghannamova, Barbora El BE; Fafilek, Bohumil B; Varecha, Miroslav M; Balek, Lukas L; Hruba, Eva E; Jonatova, Lucie L; Jelinkova, Iva I; Kunova Bosakova, Michaela M; Trantirek, Lukas L; Mayer, Jiri J; Krejci, Pavel P

Publication Date: 2017-02-15

Variant appearance in text: TEK: L914F

PubMed Link: 28199182

Variant Present in the following documents:

• elife-21536-supp3.xlsx, sheet 1

View BVdb publication page

---

The pathobiology of vascular malformations: insights from human and model organism genetics.

The Journal Of Pathology

Wetzel-Strong, Sarah E SE; Detter, Matthew R MR; Marchuk, Douglas A DA

Publication Date: 2017-01

Variant appearance in text: TIE2: L914F

PubMed Link: 27859310

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans.

Science Translational Medicine

Castillo, Sandra D SD; Tzouanacou, Elena E; Zaw-Thin, May M; Berenjeno, Inma M IM; Parker, Victoria E R VE; Chivite, Iñigo I; Milà-Guasch, Maria M; Pearce, Wayne W; Solomon, Isabelle I; Angulo-Urarte, Ana A; Figueiredo, Ana M AM; Dewhurst, Robert E RE; Knox, Rachel G RG; Clark, Graeme R GR; Scudamore, Cheryl L CL; Badar, Adam A; Kalber, Tammy L TL; Foster, Julie J; Stuckey, Daniel J DJ; David, Anna L AL; Phillips, Wayne A WA; Lythgoe, Mark F MF; Wilson, Valerie V; Semple, Robert K RK; Sebire, Neil J NJ; Kinsler, Veronica A VA; Graupera, Mariona M; Vanhaesebroeck, Bart B

Publication Date: 2016-03-30

Variant appearance in text: TEK: L914F

PubMed Link: 27030595

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Somatic PIK3CA mutations as a driver of sporadic venous malformations.

Science Translational Medicine

Castel, Pau P; Carmona, F Javier FJ; Grego-Bessa, Joaquim J; Berger, Michael F MF; Viale, Agnès A; Anderson, Kathryn V KV; Bague, Silvia S; Scaltriti, Maurizio M; Antonescu, Cristina R CR; Baselga, Eulàlia E; Baselga, José J

Publication Date: 2016-03-30

Variant appearance in text: TEK: L914F

PubMed Link: 27030594

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Somatic Activating PIK3CA Mutations Cause Venous Malformation.

American Journal Of Human Genetics

Limaye, Nisha N; Kangas, Jaakko J; Mendola, Antonella A; Godfraind, Catherine C; Schlögel, Matthieu J MJ; Helaers, Raphael R; Eklund, Lauri L; Boon, Laurence M LM; Vikkula, Miikka M

Publication Date: 2015-12-03

Variant appearance in text: TEK: 2740C>T

PubMed Link: 26637981

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L914F

PubMed Link: 26319232

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Rapamycin improves TIE2-mutated venous malformation in murine model and human subjects.

The Journal Of Clinical Investigation

Boscolo, Elisa E; Limaye, Nisha N; Huang, Lan L; Kang, Kyu-Tae KT; Soblet, Julie J; Uebelhoer, Melanie M; Mendola, Antonella A; Natynki, Marjut M; Seront, Emmanuel E; Dupont, Sophie S; Hammer, Jennifer J; Legrand, Catherine C; Brugnara, Carlo C; Eklund, Lauri L; Vikkula, Miikka M; Bischoff, Joyce J; Boon, Laurence M LM

Publication Date: 2015-09

Variant appearance in text: TIE2: L914F

PubMed Link: 26258417

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 2740C>T

PubMed Link: 23801934

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.

Human Molecular Genetics

Uebelhoer, Melanie M; Nätynki, Marjut M; Kangas, Jaakko J; Mendola, Antonella A; Nguyen, Ha-Long HL; Soblet, Julie J; Godfraind, Catherine C; Boon, Laurence M LM; Eklund, Lauri L; Limaye, Nisha N; Vikkula, Miikka M

Publication Date: 2013-09-01

Variant appearance in text: TIE2: 2740C>T

PubMed Link: 23633549

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Arteriovenous malformations and other vascular malformation syndromes.

Cold Spring Harbor Perspectives In Medicine

Whitehead, Kevin J KJ; Smith, Matthew C P MC; Li, Dean Y DY

Publication Date: 2013-02-01

Variant appearance in text: TEK: L914F

PubMed Link: 23125071

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Vascular anomalies: from genetics toward models for therapeutic trials.

Cold Spring Harbor Perspectives In Medicine

Uebelhoer, Melanie M; Boon, Laurence M LM; Vikkula, Miikka M

Publication Date: 2012-08-01

Variant appearance in text: TIE2: L914F

PubMed Link: 22908197

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pathogenesis of vascular anomalies.

Clinics In Plastic Surgery

Boon, Laurence M LM; Ballieux, Fanny F; Vikkula, Miikka M

Publication Date: 2011-01

Variant appearance in text: VMCM: L914F

PubMed Link: 21095468

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mechanisms of vascular stability and the relationship to human disease.

Current Opinion In Hematology

Smith, Matthew C P MC; Li, Dean Y DY; Whitehead, Kevin J KJ

Publication Date: 2010-05

Variant appearance in text: TEK: L914F

PubMed Link: 20308891

Variant Present in the following documents:

• Main text

View BVdb publication page

---

From germline towards somatic mutations in the pathophysiology of vascular anomalies.

Human Molecular Genetics

Limaye, Nisha N; Boon, Laurence M LM; Vikkula, Miikka M

Publication Date: 2009-04-15

Variant appearance in text: VMCM: L914F

PubMed Link: 19297403

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: L914F

PubMed Link: 19079259

Variant Present in the following documents:

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

View BVdb publication page

---