A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease. (Q34424235)

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15 February 2020

title

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

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15 February 2020

1

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author name string

Robert Shenkar

2

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15 February 2020

Changbin Shi

3

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15 February 2020

Rebecca A Stockton

4

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15 February 2020

Amy L Akers

5

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15 February 2020

Melanie H Kucherlapati

6

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15 February 2020

Raju Kucherlapati

7

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15 February 2020

James Brainer

8

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15 February 2020

Mark H Ginsberg

9

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Issam A Awad

10

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15 February 2020

Douglas A Marchuk

11

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15 February 2020

publication date

11 October 2010

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15 February 2020

published in

Human Molecular Genetics

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volume

20

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issue

2

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15 February 2020

page(s)

211-222

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Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity

15 February 2020

cites work

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Rho kinase inhibition rescues the endothelial cell cerebral cavernous malformation phenotype

6 July 2018

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6 July 2018

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Cerebral cavernous malformation 2 protein promotes smad ubiquitin regulatory factor 1-mediated RhoA degradation in endothelial cells

6 July 2018

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Immune response in human cerebral cavernous malformations

6 July 2018

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

6 July 2018

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

6 July 2018

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

6 July 2018

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Advanced magnetic resonance imaging of cerebral cavernous malformations: part II. Imaging of lesions in murine models

6 July 2018

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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

6 July 2018

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KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions

6 July 2018

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Susceptibility-Weighted Imaging for the Evaluation of Patients with Familial Cerebral Cavernous Malformations: A Comparison with T2-Weighted Fast Spin-Echo and Gradient-Echo Sequences

6 July 2018

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The effects of MSH2 deficiency on spontaneous and radiation-induced mutation rates in the mouse germline

6 July 2018

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Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6

6 July 2018

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CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis

6 July 2018

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Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations

6 July 2018

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Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations.

6 July 2018

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Mutations within the MGC4607 gene cause cerebral cavernous malformations

6 July 2018

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Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations

6 July 2018

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Differential gene expression in human cerebrovascular malformations

6 July 2018

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Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations

6 July 2018

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Chromosome instability contributes to loss of heterozygosity in mice lacking p53

6 July 2018

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Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1)

6 July 2018

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Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

6 July 2018

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Tumors of DNA mismatch repair-deficient hosts exhibit dramatic increases in genomic instability

6 July 2018

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6 July 2018

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MSH2 deficiency contributes to accelerated APC-mediated intestinal tumorigenesis

6 July 2018

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Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer

6 July 2018

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6 July 2018

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Cerebral cavernous malformations. Incidence and familial occurrence

6 July 2018

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An analysis of the natural history of cavernous angiomas

6 July 2018

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Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours

6 July 2018

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Proteomic identification of the cerebral cavernous malformation signaling complex

6 July 2018

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Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations.

27 October 2018

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Ultrastructural characteristics of hemorrhagic, nonhemorrhagic, and recurrent cavernous malformations

27 October 2018

1 reference

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

27 October 2018

1 reference

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

27 October 2018

1 reference

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Suppression of intestinal polyps in Msh2-deficient and non-Msh2-deficient multiple intestinal neoplasia mice by a specific cyclooxygenase-2 inhibitor and by a dual cyclooxygenase-1/2 inhibitor.

27 October 2018

1 reference

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Ultrastructural pathological features of cerebrovascular malformations: a preliminary report.

27 October 2018

1 reference

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Ten Years After Mutation Testing for Lynch Syndrome: Cancer Incidence and Outcome in Mutation-Positive and Mutation-Negative Family Members

27 October 2018

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Chemopreventive effects of dietary folate on intestinal polyps in Apc+/-Msh2-/- mice

9 December 2018

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12 December 2020

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

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12 December 2020

Endothelial proliferation, neoangiogenesis, and potential de novo generation of cerebrovascular malformations

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12 December 2020

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

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12 December 2020

Variations in structural protein expression and endothelial cell proliferation in relation to clinical manifestations of cerebral cavernous malformations

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12 December 2020

Msh2 deficiency leads to chromosomal abnormalities, centrosome amplification, and telomere capping defect

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12 December 2020

Oligoclonal immune response in cerebral cavernous malformations. Laboratory investigation

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12 December 2020

Identifiers

DOI

10.1093/HMG/DDQ433

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20940147%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

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15 February 2020

PubMed publication ID

20940147

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