Recent insights into cerebral cavernous malformations: the molecular genetics of CCM. (Q37680004)

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Cerebral cavernous malformations. Incidence and familial occurrence

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Société Française de Neurochirurgie.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Recent insights into cerebral cavernous malformations: animal models of CCM and the human phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Mutations within the MGC4607 gene cause cerebral cavernous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

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/10.1111%2FJ.1742-4658.2009.07535.X

Mutational analysis of 206 families with cavernous malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

CCM3 mutations are uncommon in cerebral cavernous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Deletions in CCM2 are a common cause of cerebral cavernous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Genotype-phenotype correlations in cerebral cavernous malformations patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Mutation and cancer: statistical study of retinoblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

From germline towards somatic mutations in the pathophysiology of vascular anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Cerebral cavernous malformations: somatic mutations in vascular endothelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2009.07535.X

10.1111/J.1742-4658.2009.07535.X

21 January 2018

Identifiers

DOI

1 reference

21 August 2017

release_u2gpvayn6jcmle7qce2jrzxxli

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/u2gpvayn6jcmle7qce2jrzxxli