Mutations within the MGC4607 gene cause cerebral cavernous malformations (Q24306080)

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Language	Label	Description	Also known as
English	Mutations within the MGC4607 gene cause cerebral cavernous malformations	scientific article

Statements

instance of

scholarly article

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title

Mutations within the MGC4607 gene cause cerebral cavernous malformations (English)

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main subject

CCM2 scaffold protein

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stated in

GOA release 2020-03-11

vasculogenesis

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stated in

GOA release 2020-03-11

author

Alim-Louis Benabid

series ordinal

7

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Elisabeth Tournier-Lasserve

object named as

E Tournier-Lasserve

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25

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Stephane Goutagny

object named as

S Goutagny

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2

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author name string

C Denier

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1

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P Labauge

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3

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V Krivosic

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4

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M Arnoult

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5

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A Cousin

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6

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J Comoy

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8

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P Frerebeau

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9

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B Gilbert

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10

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J P Houtteville

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11

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M Jan

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12

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F Lapierre

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13

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H Loiseau

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14

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P Menei

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15

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P Mercier

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J J Moreau

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17

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A Nivelon-Chevallier

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18

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F Parker

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19

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A M Redondo

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20

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J M Scarabin

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21

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M Tremoulet

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22

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M Zerah

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23

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J Maciazek

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24

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language of work or name

English

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publication date

February 2004

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published in

American Journal of Human Genetics

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volume

74

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issue

2

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page(s)

326-37

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cites work

Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene

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PubMed Central

reference URL

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19 March 2017

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

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PubMed Central

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19 March 2017

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

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PubMed Central

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19 March 2017

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

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PubMed Central

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19 March 2017

A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas

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19 March 2017

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

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PubMed Central

reference URL

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19 March 2017

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

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PubMed Central

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19 March 2017

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

1 reference

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PubMed Central

reference URL

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19 March 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=1181930

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19 March 2017

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

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=1181930

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19 March 2017

Identification and characterization of the tuberous sclerosis gene on chromosome 16

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PubMed Central

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19 March 2017

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

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PubMed Central

reference URL

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retrieved

27 September 2017

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1086%2F381718

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

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

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PubMed Central

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27 September 2017

Cerebral cavernous malformations. Incidence and familial occurrence

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PubMed Central

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27 September 2017

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

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27 September 2017

Natural history of the cavernous angioma

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PubMed Central

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30 May 2018

Widespread central nervous system cavernous malformations associated with café-au-lait skin lesions. Case report

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PubMed Central

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29 November 2018

A novel Krit-1 mutation in Han family with cerebral cavernous malformation

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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=1181930

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29 November 2018

Mutational analysis of 206 families with cavernous malformations.

1 reference

stated in

PubMed Central

reference URL

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29 November 2018

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

1 reference

stated in

PubMed Central

reference URL

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29 November 2018

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

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PubMed Central

reference URL

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29 November 2018

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity

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PubMed Central

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29 November 2018

Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations

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=1181930

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29 November 2018

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

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PubMed Central

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29 November 2018

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

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181930

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29 November 2018

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

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PubMed Central

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29 November 2018

CCM1 gene mutations in families segregating cerebral cavernous malformations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14740320

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[131 cases of cavernous angioma (cavernomas) of the CNS, discovered by retrospective analysis of 24,535 autopsies]

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14740320

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/14740320

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in KRIT1 in familial cerebral cavernous malformations.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/14740320

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/381718

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2569986

OpenCitations bibliographic resource ID

2569986

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2569986

PMC publication ID

1181930

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2569986

PubMed publication ID

14740320

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2569986

ResearchGate publication ID

8906100

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