(Q54404549)

29 May 2018

title

Mutation analysis of CCM1, CCM2 and CCM3 genes in a cohort of Italian patients with cerebral cavernous malformation. (English)

1 reference

29 May 2018

main subject

Italy

0 references

author

Saverio Francesco Retta

15

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29 May 2018

Placido Bramanti

13

object named as

Placido Bramanti

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29 May 2018

Rosalia D'Angelo

1

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29 May 2018

Valeria Marini

2

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29 May 2018

Carmela Rinaldi

3

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29 May 2018

Paola Origone

4

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29 May 2018

Alessandra Dorcaratto

5

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29 May 2018

Maria Avolio

6

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29 May 2018

Luca Goitre

7

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29 May 2018

Marco Forni

8

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29 May 2018

Valeria Capra

9

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29 May 2018

Concetta Alafaci

10

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29 May 2018

Cristina Mareni

11

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29 May 2018

Cecilia Garrè

12

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29 May 2018

Antonina Sidoti

14

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29 May 2018

Aldo Amato

16

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29 May 2018

publication date

4 October 2010

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29 May 2018

published in

Brain Pathology

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29 May 2018

volume

21

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29 May 2018

issue

2

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29 May 2018

page(s)

215-224

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29 May 2018

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

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1 reference

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

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

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C329X in KRIT1 is a founder mutation among CCM patients in Sardinia

21 January 2018

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

21 January 2018

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

21 January 2018

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Ultrastructural and immunocytochemical evidence that an incompetent blood-brain barrier is related to the pathophysiology of cavernous malformations

21 January 2018

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21 January 2018

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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

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Mutations within the MGC4607 gene cause cerebral cavernous malformations

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Genotype-phenotype correlations in cerebral cavernous malformations patients.

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Deletions in CCM2 are a common cause of cerebral cavernous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2010.00441.X

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2010.00441.X

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

21 January 2018

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21 January 2018

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Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp deletion in exon 5 of MGC4607 (CCM2 gene).

21 January 2018

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21 January 2018

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Cerebral cavernous malformation: new molecular and clinical insights

21 January 2018

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21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2010.00441.X

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21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2010.00441.X

Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2010.00441.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.1750-3639.2010.00441.X

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2010.00441.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2010.00441.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.1750-3639.2010.00441.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2010.00441.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2010.00441.X

10.1111/J.1750-3639.2010.00441.X

21 January 2018

Identifiers

DOI

1 reference

29 May 2018

1 reference

29 May 2018