(Q48458786)

11 February 2018

title

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

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11 February 2018

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6

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11 February 2018

Elisabeth Tournier-Lasserve

8

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11 February 2018

author name string

Florence Cavé-Riant

1

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11 February 2018

Christian Denier

2

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11 February 2018

Pierre Labauge

3

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11 February 2018

Michaelle Cécillon

4

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11 February 2018

Jacqueline Maciazek

5

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11 February 2018

Sophie Laberge-Le Couteulx

7

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11 February 2018

language of work or name

English

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publication date

1 November 2002

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11 February 2018

number of pages

8

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European Journal of Human Genetics

inferred from page(s)

published in

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11 February 2018

volume

10

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11 February 2018

issue

11

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11 February 2018

page(s)

733-740

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11 February 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200870

exact match

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cites work

Cerebral cavernous malformations. Incidence and familial occurrence

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

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/10.1038%2FSJ.EJHG.5200870

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/10.1038%2FSJ.EJHG.5200870

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

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/10.1038%2FSJ.EJHG.5200870

Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

Cloning of the murine Krit1 cDNA reveals novel mammalian 5' coding exons

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

Cerebral cavernous malformations: mutations in Krit1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

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/10.1038%2FSJ.EJHG.5200870

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/10.1038%2FSJ.EJHG.5200870

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

Nonsense-mediated mRNA decay in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

Killing the messenger: new insights into nonsense-mediated mRNA decay

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

7 January 2021

CCM1 gene mutations in families segregating cerebral cavernous malformations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

7 January 2021

Spanish families with cerebral cavernous angioma do not bear 742C-->T Hispanic American mutation of the KRIT1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

7 January 2021

Mutations in KRIT1 in familial cerebral cavernous malformations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

7 January 2021

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200870

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5200870

1 reference

11 February 2018

1 reference

11 February 2018