(Q24532170)

4 July 2017

0 references

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

1 reference

4 July 2017

16

Guy A Rouleau

0 references

Vittorio Maglione

Vittorio Maglione

13

0 references

Ferdinando Squitieri

Ferdinando Squitieri

14

0 references

Milena Cannella

Milena Cannella

12

0 references

Douglas A Marchuk

Douglas A Marchuk

18

1 reference

ORCID Public Data File 2021

Christina L Liquori

1

Christina L Liquori

1 reference

4 July 2017

Michel J Berg

2

1 reference

4 July 2017

Adrian M Siegel

3

1 reference

4 July 2017

Elizabeth Huang

4

1 reference

4 July 2017

Jon S Zawistowski

5

1 reference

4 July 2017

T'Prien Stoffer

6

1 reference

4 July 2017

Dominique Verlaan

7

1 reference

4 July 2017

Fiyinfolu Balogun

8

1 reference

4 July 2017

Lori Hughes

9

1 reference

4 July 2017

Tracey P Leedom

10

1 reference

4 July 2017

Nicholas W Plummer

11

1 reference

4 July 2017

Eric W Johnson

15

1 reference

4 July 2017

Louis Ptacek

17

1 reference

4 July 2017

language of work or name

English

0 references

publication date

17 November 2003

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

73

1 reference

4 July 2017

issue

6

1 reference

4 July 2017

page(s)

1459-1464

1 reference

KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

ICAP-1, a novel beta1 integrin cytoplasmic domain-associated protein, binds to a conserved and functionally important NPXY sequence motif of beta1 integrin

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1)

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

27 September 2017

https://api.crossref.org/works/10.1086%2F380314

7 January 2021

inferred from DOI database lookup

Vascular morphogenesis: tales of two syndromes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

Pathology of cerebral vascular malformations

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

Interaction of the integrin beta1 cytoplasmic domain with ICAP-1 protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

Angiographically occult vascular malformations: a correlative study of features on magnetic resonance imaging and histological examination

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

Familial cerebral cavernous angioma: Clinical analysis of a family and phenotypic classification

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

Cerebral cavernous malformations. Incidence and familial occurrence

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

Familial cavernous angiomas of the brain: observations in a four generation family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

Genetic heterogeneity and absence of founder effect in a series of 36 French cerebral cavernous angiomas families

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

Bodenin: a novel murine gene expressed in restricted areas of the brain

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180409

The natural history of familial cavernous malformations: results of an ongoing study

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14624391

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14624391

12 December 2020

inferred from PubMed ID database lookup

Cavernous angiomas of the nervous system in Italy: clinical and genetic study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14624391

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/380314

1 reference

OpenCitations bibliographic resource ID

4 July 2017

2569987

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2569987

1 reference