Literature DB >> 29217067

Etiology and Genetics of Congenital Vascular Lesions.

Angela Queisser1, Laurence M Boon2, Miikka Vikkula3.   

Abstract

The detection of somatic, activating genetic mutations to underlie development of vascular tumors and malformations led to a better understanding of their pathophysiology. Proteins encoded by the detected mutated genes activate the two major signaling pathways, also involved in cancer: the RAS/MAPK/ERK pathway and/or the PI3K/AKT/mTOR pathway. This gives a strong basis for studies to repurpose cancer therapeutics to patients with vascular tumors and malformations.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Gene; Inhibitor; Malformation; Mutation; Rapamycin; Signaling pathway; Vascular

Mesh：

Year:  2018        PMID： 29217067     DOI： 10.1016/j.otc.2017.09.006

Source DB:  PubMed          Journal:  Otolaryngol Clin North Am        ISSN： 0030-6665            Impact factor:   3.346


  14 in total

1.  [Longitudinal hard tumor of the lower lip].

Authors:  Corinne Hübers; Felix Strübing; Maliha Sadick; Sebastian Wohlfeil; Cyrill Géraud; Moritz Felcht
Journal:  Hautarzt       Date:  2021-03-15       Impact factor: 0.751

Review 2.  Pathogenesis of non-hereditary brain arteriovenous malformation and therapeutic implications.

Authors:  Takahiro Ota; Masaki Komiyama
Journal:  Interv Neuroradiol       Date:  2020-02-05       Impact factor: 1.610

Review 3.  Genetics of brain arteriovenous malformations and cerebral cavernous malformations.

Authors:  Hiroki Hongo; Satoru Miyawaki; Yu Teranishi; Daiichiro Ishigami; Kenta Ohara; Yu Sakai; Daisuke Shimada; Motoyuki Umekawa; Satoshi Koizumi; Hideaki Ono; Hirofumi Nakatomi; Nobuhito Saito
Journal:  J Hum Genet       Date:  2022-07-13       Impact factor: 3.755

4.  Cerebral Cavernous Malformations Develop Through Clonal Expansion of Mutant Endothelial Cells.

Authors:  Matthew R Detter; Daniel A Snellings; Douglas A Marchuk
Journal:  Circ Res       Date:  2018-10-26       Impact factor: 17.367

5.  Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation.

Authors:  Timothy D Le Cras; Jillian Goines; Nora Lakes; Patricia Pastura; Adrienne M Hammill; Denise M Adams; Elisa Boscolo
Journal:  Angiogenesis       Date:  2020-04-30       Impact factor: 9.596

6.  The impact of sirolimus therapy on lesion size, clinical symptoms, and quality of life of patients with lymphatic anomalies.

Authors:  Michio Ozeki; Akifumi Nozawa; Shiho Yasue; Saori Endo; Ryuta Asada; Hiroya Hashimoto; Toshiyuki Fukao
Journal:  Orphanet J Rare Dis       Date:  2019-06-13       Impact factor: 4.123

7.  DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera.

Authors:  Pengfei Pang; Xiaojun Hu; Bin Zhou; Junjie Mao; Yu Liang; Zaibo Jiang; Mingsheng Huang; Ruihong Liu; Youyong Zhang; Jiesheng Qian; Jinsong Liu; Jinxin Xu; Yaqin Zhang; Maoheng Zu; Yiming Wang; Huanhuan He; Hong Shan
Journal:  Hepatology       Date:  2019-01-06       Impact factor: 17.425

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

Authors:  Yuqi Cai; Sandra Schrenk; Jillian Goines; George E Davis; Elisa Boscolo
Journal:  Sci Rep       Date:  2019-08-26       Impact factor: 4.379

9.  The molecular pathophysiology of vascular anomalies: Genomic research.

Authors:  Jong Seong Kim; Su-Kyeong Hwang; Ho Yun Chung
Journal:  Arch Plast Surg       Date:  2020-05-15

Review 10.  A Primer on a Comprehensive Genetic Approach to Vascular Anomalies.

Authors:  Alexandra J Borst; Taizo A Nakano; Francine Blei; Denise M Adams; Jessica Duis
Journal:  Front Pediatr       Date:  2020-10-19       Impact factor: 3.418
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