(Q24612893)

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Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

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Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation (English)

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Dominique J Verlaan

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1

object named as

Dominique J Verlaan

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author name string

Adrian M Siegel

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2

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language of work or name

English

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publication date

June 2002

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published in

American Journal of Human Genetics

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volume

70

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issue

6

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page(s)

1564-7

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cites work

Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379143

retrieved

7 April 2017

Cerebral cavernous malformations: mutations in Krit1

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379143

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379143

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379143

retrieved

7 April 2017

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

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379143

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379143

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379143

retrieved

7 April 2017

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

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379143

retrieved

7 April 2017

A locus for cerebral cavernous malformations maps to chromosome 7q in two families

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379143

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379143

retrieved

27 September 2017

Cerebral cavernous malformations. Incidence and familial occurrence

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stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379143

retrieved

27 September 2017

CCM1 gene mutations in families segregating cerebral cavernous malformations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11941540

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/11941540

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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ResearchGate publication ID

11424022

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(Q24612893)

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

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