Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (133)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Dubovsky, J.
Right arrow Articles by Weber, J. L.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Dubovsky, J.
Right arrow Articles by Weber, J. L.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1995 Oxford University Press

OTHER

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

Jan Dubovsky, Joseph M. Zabramski1, Janice Kurth1, Robert F. Spetzier1, Steven S. Rich2, Harry T. Orr2 and James L. Weber*

Center for Medical Genetics, Marshfield Medical Research Foundation Marshfield, WI 54449 1Barrow Neurological Institute, St Joseph's Hospital Phoenix, AZ 85026 2Institute of Human Genetics and Department of Laboratory Medicine and Pathology, University of Minnesota Minneapolis, MN 55455, USA

*To whom correspondence should be addressed

Received November 3, 1994; Revised December 16, 1994; Accepted December 16, 1994

Cavernous malformations of the brain are vascular lesions which are present in up to 0.4% of all individuals and which are often accompanied by seizures, migraine, hemorrhage and other neurologic problems. Using linkage analysis and a set of short tandem repeat polymorphisms, a gene responsible for cavernous malformations in a large Hispanic kindred was mapped to the q11–q22 region of chromosome 7. A maximum pairwise lod score of 4.2 was obtained at zero recombination with marker PY5–18 at locus D7S804. Lod scores in excess of 3.0 were obtained with four additional markers closely linked to PY5–18. A broad chromosome 7q haplotype of 33 cM length on the sex average map was shared by all affected individuals indicating that the gene lies between loci D7S502 and D7S479.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Br. J. Sports. Med.Home page
G Davis, G Fabinyi, P Le Roux, and P McCrory
Clinics in neurology and neurosurgery of sport. Mass lesions: cavernoma
Br. J. Sports Med., October 1, 2009; 43(11): 866 - 868.
[Full Text] [PDF]

Home page
 StrokeHome page
L. Chen, G. Tanriover, H. Yano, R. Friedlander, A. Louvi, and M. Gunel
Apoptotic Functions of PDCD10/CCM3, the Gene Mutated in Cerebral Cavernous Malformation 3
Stroke, April 1, 2009; 40(4): 1474 - 1481.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
A. Glading, J. Han, R. A. Stockton, and M. H. Ginsberg
KRIT-1/CCM1 is a Rap1 effector that regulates endothelial cell cell junctions
J. Cell Biol., October 22, 2007; 179(2): 247 - 254.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
S. Battistini, R. Rocchi, A. Cerase, A. Citterio, L. Tassi, G. Lando, M. C. Patrosso, R. Galli, P. Brunori, D. L. Sgro, et al.
Clinical, Magnetic Resonance Imaging, and Genetic Study of 5 Italian Families With Cerebral Cavernous Malformation
Arch Neurol, June 1, 2007; 64(6): 843 - 848.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
N Revencu and M Vikkula
Cerebral cavernous malformation: new molecular and clinical insights
J. Med. Genet., September 1, 2006; 43(9): 716 - 721.
[Abstract] [Full Text] [PDF]

Home page
 StrokeHome page
A. Seker, K. L. Pricola, B. Guclu, A. K. Ozturk, A. Louvi, and M. Gunel
CCM2 Expression Parallels That of CCM1
Stroke, February 1, 2006; 37(2): 518 - 523.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J. S. Zawistowski, L. Stalheim, M. T. Uhlik, A. N. Abell, B. B. Ancrile, G. L. Johnson, and D. A. Marchuk
CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis
Hum. Mol. Genet., September 1, 2005; 14(17): 2521 - 2531.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
F.-G. Lehnhardt, U. von Smekal, B. Ruckriem, W. Stenzel, M. Neveling, W.-D. Heiss, and A. H. Jacobs
Value of Gradient-Echo Magnetic Resonance Imaging in the Diagnosis of Familial Cerebral Cavernous Malformation
Arch Neurol, April 1, 2005; 62(4): 653 - 658.
[Abstract] [Full Text] [PDF]

Home page
 Mayo Clin Proc.Home page
R. D. Brown Jr, K. D. Flemming, F. B. Meyer, H. J. Cloft, B. E. Pollock, and M. J. Link
Natural History, Evaluation, and Management of Intracranial Vascular Malformations
Mayo Clin. Proc., February 1, 2005; 80(2): 269 - 281.
[Abstract] [PDF]

Home page
 Am. J. Pathol.Home page
N. W. Plummer, C. J. Gallione, S. Srinivasan, J. S. Zawistowski, D. N. Louis, and D. A. Marchuk
Loss of p53 Sensitizes Mice with a Mutation in Ccm1 (KRIT1) to Development of Cerebral Vascular Malformations
Am. J. Pathol., November 1, 2004; 165(5): 1509 - 1518.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
P. Reich, J. Winkler, A. Straube, H.J. Steiger, and A. Peraud
Molecular genetic investigations in the CCM1 gene in sporadic cerebral cavernomas
Neurology, April 8, 2003; 60(7): 1135 - 1138.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
D. A. Marchuk, S. Srinivasan, T. L. Squire, and J. S. Zawistowski
Vascular morphogenesis: tales of two syndromes
Hum. Mol. Genet., April 2, 2003; 12(90001): R97 - 112.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
M. Gunel, M. S. H. Laurans, D. Shin, M. L. DiLuna, J. Voorhees, K. Choate, C. Nelson-Williams, and R. P. Lifton
KRIT1, a gene mutated in cerebral cavernous malformation, encodes a microtubule-associated protein
PNAS, August 6, 2002; 99(16): 10677 - 10682.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
D. J. Verlaan, W. J. Davenport, H. Stefan, U. Sure, A. M. Siegel, and G. A. Rouleau
Cerebral cavernous malformations: Mutations in Krit1
Neurology, March 26, 2002; 58(6): 853 - 857.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J. S. Zawistowski, I. G. Serebriiskii, M. F. Lee, E. A. Golemis, and D. A. Marchuk
KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis
Hum. Mol. Genet., February 1, 2002; 11(4): 389 - 396.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J. Zhang, R. E. Clatterbuck, D. Rigamonti, D. D. Chang, and H. C. Dietz
Interaction between krit1 and icap1{alpha} infers perturbation of integrin {beta}1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation
Hum. Mol. Genet., December 1, 2001; 10(25): 2953 - 2960.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
P. Labauge, L. Brunereau, S. Laberge, and J.-P. Houtteville
Prospective follow-up of 33 asymptomatic patients with familial cerebral cavernous malformations
Neurology, November 27, 2001; 57(10): 1825 - 1828.
[Abstract] [Full Text] [PDF]

Home page
 Arch OphthalmolHome page
D. Sarraf, A. M. Payne, N. D. Kitchen, K. S. Sehmi, S. M. Downes, and A. C. Bird
Familial Cavernous Hemangioma: An Expanding Ocular Spectrum
Arch Ophthalmol, July 1, 2000; 118(7): 969 - 973.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
I. Eerola, K. H. Plate, R. Spiegel, L. M. Boon, J. B. Mulliken, and M. Vikkula
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation
Hum. Mol. Genet., May 22, 2000; 9(9): 1351 - 1355.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
N F Moran, D R Fish, N Kitchen, S Shorvon, B E Kendall, and J M Stevens
Supratentorial cavernous haemangiomas and epilepsy: a review of the literature and case series
J. Neurol. Neurosurg. Psychiatry, May 1, 1999; 66(5): 561 - 568.
[Abstract] [Full Text]

Home page
 StrokeHome page
N. I. Baev, I. A. Awad, and R. L. Macdonald
Endothelial Cell Culture From Human Cerebral Cavernous Malformations • Editorial Comment
Stroke, November 1, 1998; 29(11): 2426 - 2434.
[Abstract] [Full Text] [PDF]

Home page
 Arch DermatolHome page
F. Blei, J. Walter, S. J. Orlow, and D. A. Marchuk
Familial Segregation of Hemangiomas and Vascular Malformations as an Autosomal Dominant Trait
Arch Dermatol, June 1, 1998; 134(6): 718 - 722.
[Abstract] [Full Text] [PDF]

Home page
 Arch DermatolHome page
L. F. Eichenfield
Evolving Knowledge of Hemangiomas and Vascular Malformations: Beyond Strawberries and Port Wine
Arch Dermatol, June 1, 1998; 134(6): 740 - 742.
[Full Text] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
A. R Webster, R. B Fisher, L. Ginsberg, and E. R Maher
Independent segregation of von Hippel-Lindau disease and cerebral cavernomas
J. Neurol. Neurosurg. Psychiatry, November 1, 1997; 63(5): 665 - 668.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
L Notelet, F Chapon, S Khoury, K Vahedi, J P Chodkiewicz, P Courtheoux, M T Iba-Zizen, E A Cabanis, B Lechevalier, E Tournier-Lasserve, et al.
Familial cavernous malformations in a large French kindred: mapping of the gene to the CCM1 locus on chromosome 7q
J. Neurol. Neurosurg. Psychiatry, July 1, 1997; 63(1): 40 - 45.
[Abstract] [Full Text] [PDF]

Home page
 Genome ResHome page
J W Touchman, G G Bouffard, L A Weintraub, J R Idol, L Wang, C M Robbins, J C Nussbaum, M Lovett, and E D Green
2006 expressed-sequence tags derived from human chromosome 7-enriched cDNA libraries.
Genome Res., March 1, 1997; 7(3): 281 - 292.
[Abstract] [PDF]

Home page
 NEJMHome page
M. Gunel, I. A. Awad, K. Finberg, J. A. Anson, G. K. Steinberg, H. H. Batjer, T. A. Kopitnik, L. Morrison, S. L. Giannotta, C. Nelson-Williams, et al.
A Founder Mutation as a Cause of Cerebral Cavernous Malformation in Hispanic Americans
N. Engl. J. Med., April 11, 1996; 334(15): 946 - 951.
[Abstract] [Full Text] [PDF]

Home page
 Genome ResHome page
E W Johnson, L M Iyer, S S Rich, H T Orr, A Gil-Nagel, J H Kurth, J M Zabramski, D A Marchuk, J Weissenbach, and C L Clericuzio
Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.
Genome Res., November 1, 1995; 5(4): 368 - 380.
[PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.