(Q34420456)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25354366%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

PDCD10 gene mutations in multiple cerebral cavernous malformations (English)

1 reference

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22 February 2020

3

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22 February 2020

Stefano Parmigiani

6

1 reference

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22 February 2020

Valeria Capra

8

1 reference

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22 February 2020

Francesca Notturno

11

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22 February 2020

Leonilda Bilo

17

1 reference

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22 February 2020

Silvana Penco

23

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22 February 2020

author name string

Maria Sole Cigoli

1

1 reference

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22 February 2020

Francesca Avemaria

2

1 reference

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22 February 2020

Giovanni P Gesu

4

1 reference

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22 February 2020

Lucio Giordano Accorsi

5

1 reference

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22 February 2020

Maria Franca Corona

7

1 reference

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22 February 2020

Andrea Mosca

9

1 reference

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22 February 2020

Simona Giovannini

10

1 reference

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22 February 2020

Fausta Ciccocioppo

12

1 reference

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22 February 2020

Lilia Volpi

13

1 reference

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22 February 2020

Margherita Estienne

14

1 reference

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22 February 2020

Giuseppe De Michele

15

1 reference

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22 February 2020

Antonella Antenora

16

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22 February 2020

Antonietta Tavoni

18

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22 February 2020

Nelia Zamponi

19

1 reference

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22 February 2020

Enrico Alfei

20

1 reference

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22 February 2020

Giovanni Baranello

21

1 reference

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22 February 2020

Daria Riva

22

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22 February 2020

language of work or name

English

0 references

publication date

29 October 2014

1 reference

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22 February 2020

1 reference

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22 February 2020

volume

9

1 reference

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22 February 2020

issue

10

1 reference

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22 February 2020

page(s)

e110438

1 reference

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Creative Commons Attribution 4.0 International

22 February 2020

copyright license

start time

29 October 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Association of cardiovascular risk factors with disease severity in cerebral cavernous malformation type 1 subjects with the common Hispanic mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

CCM3 Mutations Are Associated with Early-Onset Cerebral Hemorrhage and Multiple Meningiomas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Loss of CCM3 impairs DLL4-Notch signalling: implication in endothelial angiogenesis and in inherited cerebral cavernous malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

CCM3/PDCD10 heterodimerizes with germinal center kinase III (GCKIII) proteins using a mechanism analogous to CCM3 homodimerization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Crystal structure of human programmed cell death 10 complexed with inositol-(1,3,4,5)-tetrakisphosphate: a novel adaptor protein involved in human cerebral cavernous malformation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

MutationTaster evaluates disease-causing potential of sequence alterations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Recent insights into cerebral cavernous malformations: a complex jigsaw puzzle under construction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Sporadic multiple cerebral cavernomatosis: report of a case and review of literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

PDCD10 interacts with Ste20-related kinase MST4 to promote cell growth and transformation via modulation of the ERK pathway

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Genetics of cavernous angiomas

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

CCM3 mutations are uncommon in cerebral cavernous malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Mutations within the MGC4607 gene cause cerebral cavernous malformations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Cerebral cavernous malformations: natural history and prognosis after clinical deterioration with or without hemorrhage

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Natural history of intracranial vascular malformations: a review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Cerebral cavernous malformations. Incidence and familial occurrence

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

A simple salting out procedure for extracting DNA from human nucleated cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

Familial cavernous angiomas.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4212902

CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.

6 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

Clinical, magnetic resonance imaging, and genetic study of 5 Italian families with cerebral cavernous malformation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

Identification of two novel mutations and of a novel critical region in the KRIT1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

Familial cerebral cavernous malformation: report of a further Italian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

Genotype-phenotype correlations in cerebral cavernous malformations patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

Multiple cerebral cavernous malformations and a novel CCM3 germline deletion in a German family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

Ccm3 functions in a manner distinct from Ccm1 and Ccm2 in a zebrafish model of CCM vascular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

Differential angiogenesis function of CCM2 and CCM3 in cerebral cavernous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0110438

Occult cerebral vascular malformations: high-field MR imaging

21 January 2018

1 reference

12 December 2020

Genetic Variations Within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a Large Italian Family Harbouring a Krit1/CCM1 Mutation

1 reference

12 December 2020

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

1 reference

12 December 2020

Spectrum of genotype and clinical manifestations in cerebral cavernous malformations

1 reference

12 December 2020

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0110438

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25354366%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25354366%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25354366%20AND%20SRC:MED&resulttype=core&format=json