Literature DB >> 25462093

Highly variable intrafamilial manifestations of a CCM3 mutation ranging from acute childhood cerebral haemorrhage to late-onset meningiomas.

C Fauth1, K Rostasy2, M Rath3, E Gizewski4, A G Lederer5, U Sure6, J Zschocke7, U Felbor3.   

Abstract

Entities:  

Keywords:  CCM3 mutation; Cerebral cavernous malformations; Dural cavernous angiomas; Early-onset cerebral haemorrhage; Meningiomas

Mesh：

Substances：

Year:  2014        PMID： 25462093     DOI： 10.1016/j.clineuro.2014.10.023

Source DB:  PubMed          Journal:  Clin Neurol Neurosurg        ISSN： 0303-8467            Impact factor:   1.876


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  8 in total

Review 1.  Genetics of cerebral cavernous malformations: current status and future prospects.

Authors:  H Choquet; L Pawlikowska; M T Lawton; H Kim
Journal:  J Neurosurg Sci       Date:  2015-04-22       Impact factor: 2.279

2.  FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations.

Authors:  Stefanie Spiegler; Bettina Kirchmaier; Matthias Rath; G Christoph Korenke; Fabian Tetzlaff; Maartje van de Vorst; Kornelia Neveling; Amparo Acker-Palmer; Andreas W Kuss; Christian Gilissen; Andreas Fischer; Stefan Schulte-Merker; Ute Felbor
Journal:  Mol Syndromol       Date:  2016-06-18

Review 3.  Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling.

Authors:  Stefanie Spiegler; Matthias Rath; Christin Paperlein; Ute Felbor
Journal:  Mol Syndromol       Date:  2018-01-25

4.  PDCD10 (CCM3) regulates brain endothelial barrier integrity in cerebral cavernous malformation type 3: role of CCM3-ERK1/2-cortactin cross-talk.

Authors:  Svetlana M Stamatovic; Nikola Sladojevic; Richard F Keep; Anuska V Andjelkovic
Journal:  Acta Neuropathol       Date:  2015-09-18       Impact factor: 17.088

5.  Loss of endothelial programmed cell death 10 activates glioblastoma cells and promotes tumor growth.

Authors:  Yuan Zhu; Kai Zhao; Anja Prinz; Kathy Keyvani; Nicole Lambertz; Ilonka Kreitschmann-Andermahr; Ting Lei; Ulrich Sure
Journal:  Neuro Oncol       Date:  2015-08-08       Impact factor: 12.300

Review 6.  Cerebral Cavernous Malformations: Review of the Genetic and Protein-Protein Interactions Resulting in Disease Pathogenesis.

Authors:  Jacob F Baranoski; M Yashar S Kalani; Colin J Przybylowski; Joseph M Zabramski
Journal:  Front Surg       Date:  2016-11-14

7.  ATPIF1 maintains normal mitochondrial structure which is impaired by CCM3 deficiency in endothelial cells.

Authors:  Kang Wang; Haixuan Chen; Zhongyang Zhou; Haifeng Zhang; Huanjiao Jenny Zhou; Wang Min
Journal:  Cell Biosci       Date:  2021-01-09       Impact factor: 7.133

Review 8.  Cerebral Cavernous Malformation: From Mechanism to Therapy.

Authors:  Daniel A Snellings; Courtney C Hong; Aileen A Ren; Miguel A Lopez-Ramirez; Romuald Girard; Abhinav Srinath; Douglas A Marchuk; Mark H Ginsberg; Issam A Awad; Mark L Kahn
Journal:  Circ Res       Date:  2021-06-24       Impact factor: 23.213
  8 in total

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