Literature DB >> 32200879

Theranostic Advances in Vascular Malformations.

Valérie Dekeuleneer1, Emmanuel Seront2, An Van Damme3, Laurence M Boon4, Miikka Vikkula5.   

Abstract

Vascular malformations are subdivided into capillary, lymphatic, venous, arteriovenous, and mixed malformations, according to the type of affected vessels. Until a few years ago, treatment options were limited to sclerotherapy and/or surgery. Since, it has been demonstrated that the majority of vascular malformations are caused by inherited or somatic mutations in various genes. These mutations lead to hyperactivity of two major signaling pathways: the RAS/mitogen-activated protein kinase and the phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin pathways. These discoveries paved the way for the development and testing of targeted molecular inhibitors as therapies for vascular anomalies via repurposing of anticancer drugs.
Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.

Entities:  

Year:  2020        PMID: 32200879     DOI: 10.1016/j.jid.2019.10.001

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


  8 in total

1.  Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.

Authors:  Hiroki Hongo; Satoru Miyawaki; Yu Teranishi; Jun Mitsui; Hiroto Katoh; Daisuke Komura; Kinya Tsubota; Takashi Matsukawa; Masakatsu Watanabe; Masakazu Kurita; Jun Yoshimura; Shogo Dofuku; Kenta Ohara; Daiichiro Ishigami; Atsushi Okano; Motoi Kato; Fumihiko Hakuno; Ayaka Takahashi; Akiko Kunita; Hiroyuki Ishiura; Masahiro Shin; Hirofumi Nakatomi; Toshitaka Nagao; Hiroshi Goto; Shin-Ichiro Takahashi; Tetsuo Ushiku; Shumpei Ishikawa; Mutsumi Okazaki; Shinichi Morishita; Shoji Tsuji; Nobuhito Saito
Journal:  Angiogenesis       Date:  2022-07-29       Impact factor: 10.658

2.  Endothelial k-RasV12 Expression Induces Capillary Deficiency Attributable to Marked Tube Network Expansion Coupled to Reduced Pericytes and Basement Membranes.

Authors:  Zheying Sun; Scott S Kemp; Prisca K Lin; Kalia N Aguera; George E Davis
Journal:  Arterioscler Thromb Vasc Biol       Date:  2021-12-09       Impact factor: 8.311

3.  Bockenheimer disease is associated with a TEK variant.

Authors:  Christopher L Sudduth; Dennis J Konczyk; Patrick J Smits; Whitney Eng; Alyaa Al-Ibraheemi; Joseph Upton; Arin K Greene
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09

Review 4.  ISSVA Classification of Vascular Anomalies and Molecular Biology.

Authors:  Kayo Kunimoto; Yuki Yamamoto; Masatoshi Jinnin
Journal:  Int J Mol Sci       Date:  2022-02-21       Impact factor: 5.923

5.  Mapping the PIK3CA-related overgrowth spectrum (PROS) patient and caregiver journey using a patient-centered approach.

Authors:  Lara Rodríguez-Laguna; Kristen Davis; Mellenee Finger; Dawn Aubel; Robin Vlamis; Craig Johnson
Journal:  Orphanet J Rare Dis       Date:  2022-05-07       Impact factor: 4.303

Review 6.  Atlas of Nervous System Vascular Malformations: A Systematic Review.

Authors:  Carlos Castillo-Rangel; Gerardo Marín; Karla Aketzalli Hernandez-Contreras; Cristofer Zarate-Calderon; Micheel Merari Vichi-Ramirez; Wilmar Cortez-Saldias; Marco Antonio Rodriguez-Florido; Ámbar Elizabeth Riley-Moguel; Omar Pichardo; Osvaldo Torres-Pineda; Helena G Vega-Quesada; Ramiro Lopez-Elizalde; Jaime Ordoñez-Granja; Hugo Helec Alvarado-Martinez; Luis Andrés Vega-Quesada; Gonzalo Emiliano Aranda-Abreu
Journal:  Life (Basel)       Date:  2022-08-07

Review 7.  A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.

Authors:  Guillaume Canaud; Adrienne M Hammill; Denise Adams; Miikka Vikkula; Kim M Keppler-Noreuil
Journal:  Orphanet J Rare Dis       Date:  2021-07-08       Impact factor: 4.123

8.  Efficacy and safety of sirolimus in the treatment of vascular malformations: A protocol for systematic review and meta-analysis.

Authors:  Jianyong Dong; Deting Han; Desheng Wang; Huijun Lu; Xiaoliang Wang
Journal:  Medicine (Baltimore)       Date:  2020-10-02       Impact factor: 1.817

  8 in total

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