CCM1 gene mutations in families segregating cerebral cavernous malformations

Neurology

Volumn 56, Issue 4, 2001, Pages 540-543

  Davenport, W J ^a   Siegel, A M ^b   Dichgans, J ^c   Drigo, P ^d   Mammi, I ^d   Pereda, P ^e   Wood, N W ^f   Rouleau, Guy A ^a  

^a MONTREAL GENERAL HOSPITAL   (Canada)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d UNIVERSITY OF PADOVA   (Italy)

^e Ospedalo Universitario   (Uruguay)

^f NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; DNA; GENE PRODUCT; MESSENGER RNA; PROTEIN KRIT1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN HEMANGIOMA; CAVERNOUS HEMANGIOMA; CEREBROVASCULAR MALFORMATION; CHROMOSOME 7Q; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEGREGATION; HUMAN; HUMAN CELL; LIVER HEMANGIOMA; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKIN HEMANGIOMA; TUMOR SUPPRESSOR GENE;

EID: 0035957111     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.56.4.540     Document Type: Article

References (10)

1. Cerebral cavernous malformations: Incidence and familial occurrence
2. Cavernous hemangioma of the retina, cutaneous angiomas, and intracranial vascular lesion by computed tomography and nuclear magnetic resonance imaging
3. Hereditary cerebral cavernous angiomas: Clinical and genetic features in 57 French families
4. Mutations in the gene encoding KRIT1, a Krev-1/rapla binding protein, causing cerebral cavernous malformations (CCM1)
5. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas
6. Association of Krev-1/rapla with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22
7. Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27
8. Anticipation in familial cavernous angioma: Ascertainment bias or genetic cause
9. Familial cerebral, hepatic, and retinal cavernous angiomas: A new syndrome
10. Anticipation in familial cavernous angioma: A study of 52 families from international familial cavernous angioma study