(Q34621267)

3 August 2017

Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology (English)

1 reference

cerebral cavernous malformation 3

3 August 2017

0 references

1 reference

Angeliki Louvi

1

1 reference

3 August 2017

Leiling Chen

2

1 reference

3 August 2017

Aimee M Two

3

1 reference

3 August 2017

Haifeng Zhang

4

1 reference

3 August 2017

Wang Min

5

1 reference

3 August 2017

Murat Günel

6

1 reference

3 August 2017

language of work or name

English

0 references

publication date

14 February 2011

1 reference

Proceedings of the National Academy of Sciences of the United States of America

3 August 2017

1 reference

3 August 2017

108

1 reference

3 August 2017

3737-3742

1 reference

3 August 2017

9

1 reference

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

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

CCM3 signaling through sterile 20-like kinases plays an essential role during zebrafish cardiovascular development and cerebral cavernous malformations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Crystal structure of CCM3, a cerebral cavernous malformation protein critical for vascular integrity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

CCM3/PDCD10 stabilizes GCKIII proteins to promote Golgi assembly and cell orientation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Cell-nonautonomous regulation of C. elegans germ cell death by kri-1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Recent insights into cerebral cavernous malformations: the molecular genetics of CCM.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

CCM2 mediates death signaling by the TrkA receptor tyrosine kinase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Apoptotic functions of PDCD10/CCM3, the gene mutated in cerebral cavernous malformation 3.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Dysfunctional cell-cell signaling in the neurovascular unit as a paradigm for central nervous system disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Differential function of Tie2 at cell-cell contacts and cell-substratum contacts regulated by angiopoietin-1

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Glial regulation of the cerebral microvasculature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

AKT/PKB signaling: navigating downstream

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Development of the retinal vasculature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

CCM2 expression parallels that of CCM1.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Vascular-specific growth factor angiopoietin 1 is involved in the organization of neuronal processes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Mechanisms, challenges and opportunities in stroke

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Cortical excitatory neurons and glia, but not GABAergic neurons, are produced in the Emx1-expressing lineage.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Formation of intracerebral cavernous malformations after radiation treatment for central nervous system neoplasia in children

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Interactions between glial progenitors and blood vessels during early postnatal corticogenesis: blood vessel contact represents an early stage of astrocyte differentiation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Appearance of a cavernous hemangioma in the cerebral cortex after a biopsy of a deeper lesion.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

Natural history of the cavernous angioma.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

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

7 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1012617108

KRIT1/cerebral cavernous malformation 1 protein localizes to vascular endothelium, astrocytes, and pyramidal cells of the adult human cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1012617108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1012617108

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1012617108

Proteomic identification of the cerebral cavernous malformation signaling complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1012617108

Interaction between krit1 and malcavernin: implications for the pathogenesis of cerebral cavernous malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1012617108

hGFAP-cre transgenic mice for manipulation of glial and neuronal function in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1012617108

Angiopoietin 1 causes vessel enlargement, without angiogenic sprouting, during a critical developmental period.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1012617108

Thrombus and encapsulated hematoma in cerebral cavernous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1012617108

Genotype-phenotype correlations in cerebral cavernous malformations patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1012617108

Accelerated hippocampal spreading depression and enhanced locomotory activity in mice with astrocyte-directed inactivation of connexin43.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3048113

PDCD10, the gene mutated in cerebral cavernous malformation 3, is expressed in the neurovascular unit

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21321212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Selective ablation of v integrins in the central nervous system leads to cerebral hemorrhage, seizures, axonal degeneration and premature death

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21321212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spectrum of genotype and clinical manifestations in cerebral cavernous malformations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21321212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.1012617108

1 reference

3 August 2017

0 references

1 reference

3 August 2017

1 reference