Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations. (Q35103397)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15509522%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

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

1 reference

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4 January 2020

1

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4 January 2020

Sudha Srinivasan

3

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4 January 2020

Douglas A Marchuk

6

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ORCID Public Data File 2021

author name string

Carol J Gallione

2

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4 January 2020

Jon S Zawistowski

4

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4 January 2020

David N Louis

5

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4 January 2020

language of work or name

English

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publication date

1 November 2004

1 reference

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The American Journal of Pathology

4 January 2020

published in

1 reference

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4 January 2020

volume

165

1 reference

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4 January 2020

issue

5

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4 January 2020

page(s)

1509-1518

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Mutations within the MGC4607 gene cause cerebral cavernous malformations

4 January 2020

cites work

1 reference

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Rac-MEKK3-MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock.

9 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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

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

9 July 2018

1 reference

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The integrin cytoplasmic domain-associated protein ICAP-1 binds and regulates Rho family GTPases during cell spreading

9 July 2018

1 reference

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Chromosome instability contributes to loss of heterozygosity in mice lacking p53

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

The natural history of cavernous malformations.

9 July 2018

1 reference

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Pathology of cerebral vascular malformations

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

A locus for cerebral cavernous malformations maps to chromosome 7q in two families

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Tumor spectrum analysis in p53-mutant mice

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Dose-response studies to polyoma virus in rats

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Mutational analysis of 206 families with cavernous malformations.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Mechanical stretch-induced apoptosis in smooth muscle cells is mediated by beta1-integrin signaling pathways

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1618670

Expression of smooth muscle proteins in cavernous and arteriovenous malformations.

27 September 2018

1 reference

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Polyoma virus middle T and small t antigens cooperate to antagonize p53-induced cell cycle arrest and apoptosis.

27 September 2018

1 reference

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A gene responsible for cavernous malformations of the brain maps to chromosome 7q

27 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963409-8

Expression of structural proteins and angiogenic factors in cerebrovascular anomalies

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963409-8

Expression of Angiogenic Factors and Structural Proteins in Central Nervous System Vascular Malformations

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FS0002-9440%2810%2963409-8

Cavernous malformations and capillary telangiectasia: a spectrum within a single pathological entity

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15509522

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/S0002-9440(10)63409-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15509522%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

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4 January 2020

PubMed publication ID

15509522

1 reference