Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice. (Q42250384)

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28 January 2020

title

Mutations in 2 distinct genetic pathways result in cerebral cavernous malformations in mice (English)

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1

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Oscar E Ruiz

3

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28 January 2020

author name string

Stavros G Drakos

2

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Alexandra C H Smith

4

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Christopher C Gibson

5

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28 January 2020

Jing Ling

6

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Samuel F Passi

7

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Amber N Stratman

8

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Anastasia Sacharidou

9

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M Patricia Revelo

10

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Allie H Grossmann

11

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28 January 2020

Nikolaos A Diakos

12

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28 January 2020

George E Davis

13

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Mark M Metzstein

14

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Kevin J Whitehead

15

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Dean Y Li

16

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28 January 2020

language of work or name

English

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publication date

1 April 2011

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Journal of Clinical Investigation

28 January 2020

published in

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28 January 2020

volume

121

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issue

5

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page(s)

1871-1881

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A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.

28 January 2020

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Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity

26 October 2017

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Rho kinase inhibition rescues the endothelial cell cerebral cavernous malformation phenotype

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Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein

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Tissue-specific conditional CCM2 knockout mice establish the essential role of endothelial CCM2 in angiogenesis: implications for human cerebral cavernous malformations

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The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases

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A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells

26 October 2017

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Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis

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A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein

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26 October 2017

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26 October 2017

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29 May 2018

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29 May 2018

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17 August 2018

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17 August 2018

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Proteomic identification of the cerebral cavernous malformation signaling complex

17 August 2018

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Genotype-phenotype correlations in cerebral cavernous malformations patients

17 August 2018

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Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion.

17 August 2018

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Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations.

17 August 2018

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Long-term results after stereotactic radiosurgery for patients with cavernous malformations

17 August 2018

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[131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies]

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21490399

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

An alpha 2 beta 1 integrin-dependent pinocytic mechanism involving intracellular vacuole formation and coalescence regulates capillary lumen and tube formation in three-dimensional collagen matrix

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21490399

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The natural history of familial cerebral cavernomas: a retrospective MRI study of 40 patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21490399

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI44393

1 reference

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28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21490399%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

PubMed publication ID

21490399

1 reference