(Q33920720)

English

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

David L Corcoran

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

David A McDonald

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Douglas A Marchuk

object named as

Douglas A Marchuk

11

1 reference

ORCID Public Data File 2021

author name string

Changbin Shi

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Robert Shenkar

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Carol J Gallione

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Amy L Akers

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Stephanie Li

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Nicholas De Castro

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Michel J Berg

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Issam A Awad

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

publication date

3 April 2014

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Human Molecular Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

23

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

16

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

4357-4370

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Somatic uniparental isodisomy explains multifocality of glomuvenous malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

Phasic contractions of isolated human myometrium are associated with Rho-kinase (ROCK)-dependent phosphorylation of myosin phosphatase-targeting subunit (MYPT1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

The myosin phosphatase targeting protein (MYPT) family: a regulated mechanism for achieving substrate specificity of the catalytic subunit of protein phosphatase type 1δ.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

Rho kinase inhibition rescues the endothelial cell cerebral cavernous malformation phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

The putative role of the venous system in the genesis of vascular malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

Cerebral cavernous malformations: somatic mutations in vascular endothelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

Quality scores and SNP detection in sequencing-by-synthesis systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

Mutations within the MGC4607 gene cause cerebral cavernous malformations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

Growth, subsequent bleeding, and de novo appearance of cerebral cavernous angiomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

Mutation and cancer: statistical study of retinoblastoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

Cerebral cavernous malformations. Incidence and familial occurrence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

Natural history of the cavernous angioma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

An analysis of the natural history of cavernous angiomas.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103679

5 July 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU153

21 January 2018

Factors affecting PCR-mediated recombination.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU153

21 January 2018

Extreme de novo appearance of cerebral cavernous malformations: case report.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU153

21 January 2018

Genotype-phenotype correlations in cerebral cavernous malformations patients

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU153

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24698976

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDU153

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

release_ua3ab65rkjbrbdbi6h6riudnmy

1 reference

https://api.fatcat.wiki/v0/release/ua3ab65rkjbrbdbi6h6riudnmy

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24698976%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q33920720&oldid=1980041512"