
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
Publication
, Journal Article
Liquori, CL; Berg, MJ; Siegel, AM; Huang, E; Zawistowski, JS; Stoffer, T; Verlaan, D; Balogun, F; Hughes, L; Leedom, TP; Plummer, NW ...
Published in: Am J Hum Genet
December 2003
Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. Mutations in the gene KRIT1 are responsible for type 1 CCM (CCM1). We report that a novel gene, MGC4607, exhibits eight different mutations in nine families with type 2 CCM (CCM2). MGC4607, similar to the KRIT1 binding partner ICAP1alpha, encodes a protein with a phosphotyrosine-binding domain. This protein may be part of the complex pathway of integrin signaling that, when perturbed, causes abnormal vascular morphogenesis in the brain, leading to CCM formation.
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Published In
Am J Hum Genet
DOI
ISSN
0002-9297
Publication Date
December 2003
Volume
73
Issue
6
Start / End Page
1459 / 1464
Location
United States
Related Subject Headings
- Signal Transduction
- Sequence Analysis, DNA
- Reverse Transcriptase Polymerase Chain Reaction
- Proto-Oncogene Proteins
- Mutation
- Morphogenesis
- Microtubule-Associated Proteins
- Magnetic Resonance Imaging
- KRIT1 Protein
- Integrins
Citation
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Liquori, C. L., Berg, M. J., Siegel, A. M., Huang, E., Zawistowski, J. S., Stoffer, T., … Marchuk, D. A. (2003). Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet, 73(6), 1459–1464. https://doi.org/10.1086/380314
Liquori, Christina L., Michel J. Berg, Adrian M. Siegel, Elizabeth Huang, Jon S. Zawistowski, T’Prien Stoffer, Dominique Verlaan, et al. “Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.” Am J Hum Genet 73, no. 6 (December 2003): 1459–64. https://doi.org/10.1086/380314.
Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, et al. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet. 2003 Dec;73(6):1459–64.
Liquori, Christina L., et al. “Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.” Am J Hum Genet, vol. 73, no. 6, Dec. 2003, pp. 1459–64. Pubmed, doi:10.1086/380314.
Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet. 2003 Dec;73(6):1459–1464.

Published In
Am J Hum Genet
DOI
ISSN
0002-9297
Publication Date
December 2003
Volume
73
Issue
6
Start / End Page
1459 / 1464
Location
United States
Related Subject Headings
- Signal Transduction
- Sequence Analysis, DNA
- Reverse Transcriptase Polymerase Chain Reaction
- Proto-Oncogene Proteins
- Mutation
- Morphogenesis
- Microtubule-Associated Proteins
- Magnetic Resonance Imaging
- KRIT1 Protein
- Integrins