Literature DB >> 35831630

Genetics of brain arteriovenous malformations and cerebral cavernous malformations.

Hiroki Hongo1, Satoru Miyawaki2, Yu Teranishi1, Daiichiro Ishigami1, Kenta Ohara1, Yu Sakai1, Daisuke Shimada3, Motoyuki Umekawa1, Satoshi Koizumi1, Hideaki Ono4, Hirofumi Nakatomi3, Nobuhito Saito1.   

Abstract

Cerebrovascular malformations comprise abnormal development of cerebral vasculature. They can result in hemorrhagic stroke due to rupture of lesions as well as seizures and neurological defects. The most common forms of cerebrovascular malformations are brain arteriovenous malformations (bAVMs) and cerebral cavernous malformations (CCMs). They occur in both sporadic and inherited forms. Rapidly evolving molecular genetic methodologies have helped to identify causative or associated genes involved in genesis of bAVMs and CCMs. In this review, we highlight the current knowledge regarding the genetic basis of these malformations.
© 2022. The Author(s), under exclusive licence to The Japan Society of Human Genetics.

Entities:  

Year:  2022        PMID: 35831630     DOI: 10.1038/s10038-022-01063-8

Source DB:  PubMed          Journal:  J Hum Genet        ISSN: 1434-5161            Impact factor:   3.755


  164 in total

Review 1.  Arteriovenous Malformations of the Brain.

Authors:  Robert A Solomon; E Sander Connolly
Journal:  N Engl J Med       Date:  2017-05-11       Impact factor: 91.245

Review 2.  Hereditary hemorrhagic telangiectasia.

Authors:  A E Guttmacher; D A Marchuk; R I White
Journal:  N Engl J Med       Date:  1995-10-05       Impact factor: 91.245

Review 3.  Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis.

Authors:  Concetta Scimone; Luigi Donato; Silvia Marino; Concetta Alafaci; Rosalia D'Angelo; Antonina Sidoti
Journal:  Neurol Sci       Date:  2018-12-06       Impact factor: 3.307

Review 4.  Management of Brain Arteriovenous Malformations: A Scientific Statement for Healthcare Professionals From the American Heart Association/American Stroke Association.

Authors:  Colin P Derdeyn; Gregory J Zipfel; Felipe C Albuquerque; Daniel L Cooke; Edward Feldmann; Jason P Sheehan; James C Torner
Journal:  Stroke       Date:  2017-06-22       Impact factor: 7.914

Review 5.  Molecular Biomarkers and Drug Targets in Brain Arteriovenous and Cavernous Malformations: Where Are We?

Authors:  Vani Venugopal; S Sumi
Journal:  Stroke       Date:  2021-11-17       Impact factor: 7.914

Review 6.  Arteriovenous malformations and other vascular malformation syndromes.

Authors:  Kevin J Whitehead; Matthew C P Smith; Dean Y Li
Journal:  Cold Spring Harb Perspect Med       Date:  2013-02-01       Impact factor: 6.915

Review 7.  Cerebral vascular malformations and their imaging modalities.

Authors:  Atif Zafar; Brian Fiani; Hamid Hadi; Mohammad Arshad; Alessandra Cathel; Muhammad Naeem; Matthew S Parsons; Mudassir Farooqui; Abigail A Bucklin; Michael J Leone; Aqsa Baig; Syed A Quadri
Journal:  Neurol Sci       Date:  2020-04-25       Impact factor: 3.307

Review 8.  Natural history of cerebral arteriovenous malformations: a meta-analysis.

Authors:  Bradley A Gross; Rose Du
Journal:  J Neurosurg       Date:  2012-11-30       Impact factor: 5.115

Review 9.  Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.

Authors:  Jamie McDonald; Whitney Wooderchak-Donahue; Chad VanSant Webb; Kevin Whitehead; David A Stevenson; Pinar Bayrak-Toydemir
Journal:  Front Genet       Date:  2015-01-26       Impact factor: 4.599

10.  Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype.

Authors:  Sen Gao; Jeffrey Nelson; Shantel Weinsheimer; Ethan A Winkler; Caleb Rutledge; Adib A Abla; Nalin Gupta; Joseph T Shieh; Daniel L Cooke; Steven W Hetts; Tarik Tihan; Christopher P Hess; Nerissa Ko; Brian P Walcott; Charles E McCulloch; Michael T Lawton; Hua Su; Ludmila Pawlikowska; Helen Kim
Journal:  J Neurosurg       Date:  2021-07-02       Impact factor: 5.408

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