(Q38293230)

English

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

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scholarly article

1 reference

Europe PubMed Central

1 September 2017

Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex (English)

1 reference

Europe PubMed Central

1 September 2017

author name string

Sonja Stahl

1

1 reference

Europe PubMed Central

1 September 2017

Sabine Gaetzner

2

1 reference

Europe PubMed Central

1 September 2017

Katrin Voss

3

1 reference

Europe PubMed Central

1 September 2017

Bettina Brackertz

4

1 reference

Europe PubMed Central

1 September 2017

Elisa Schleider

5

1 reference

Europe PubMed Central

1 September 2017

Oguzkan Sürücü

6

1 reference

Europe PubMed Central

1 September 2017

Ekkehard Kunze

7

1 reference

Europe PubMed Central

1 September 2017

Christian Netzer

8

1 reference

Europe PubMed Central

1 September 2017

Christoph Korenke

9

1 reference

Europe PubMed Central

1 September 2017

Ulrich Finckh

10

1 reference

Europe PubMed Central

1 September 2017

Mario Habek

11

1 reference

Europe PubMed Central

1 September 2017

Zdravka Poljakovic

12

1 reference

Europe PubMed Central

1 September 2017

Miriam Elbracht

13

1 reference

Europe PubMed Central

1 September 2017

Sabine Rudnik-Schöneborn

14

1 reference

Europe PubMed Central

1 September 2017

Helmut Bertalanffy

15

1 reference

Europe PubMed Central

1 September 2017

Ulrich Sure

16

1 reference

Europe PubMed Central

1 September 2017

Ute Felbor

17

1 reference

Europe PubMed Central

1 September 2017

publication date

1 May 2008

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Europe PubMed Central

1 September 2017

1 reference

Europe PubMed Central

1 September 2017

29

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1 September 2017

5

1 reference

Europe PubMed Central

1 September 2017

709-717

1 reference

Europe PubMed Central

1 September 2017

Krit 1 interactions with microtubules and membranes are regulated by Rap1 and integrin cytoplasmic domain associated protein-1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

Mutations within the MGC4607 gene cause cerebral cavernous malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

Genotype-phenotype correlations in cerebral cavernous malformations patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

Genetics of cerebral cavernous angioma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

Large germline deletions and duplication in isolated cerebral cavernous malformation patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

CCM1 gene deletion identified by MLPA in cerebral cavernous malformation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

Proteomic identification of the cerebral cavernous malformation signaling complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

Genetics of cavernous angiomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

Deletions in CCM2 are a common cause of cerebral cavernous malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

Cerebral cavernous malformation: new molecular and clinical insights

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

Clinical impact of CCM mutation detection in familial cavernous angioma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

Rac-MEKK3-MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

High rate of mosaicism in tuberous sclerosis complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

Cerebral cavernous malformations: mutations in Krit1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

7 January 2021

based on heuristic

inferred from DOI database lookup

Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion of exon 16 of the dystrophin gene is not associated with disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

7 January 2021

based on heuristic

inferred from DOI database lookup

Recognizing and defining true Ras binding domains I: biochemical analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20712

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20712

1 reference

Europe PubMed Central

1 September 2017

1 reference

Europe PubMed Central

1 September 2017

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