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Dtsch Med Wochenschr 2007; 132(38): 1967-1970
DOI: 10.1055/s-2007-985625
DOI: 10.1055/s-2007-985625
Prinzip & Perspektive | Review article
Molekularbiologie
© Georg Thieme Verlag KG Stuttgart · New York
Genetik zerebraler kavernöser Gefäßmalformationen
Genetics of cerebral cavernous malformations (CCM)Further Information
Publication History
eingereicht: 13.6.2007
akzeptiert: 9.8.2007
Publication Date:
13 September 2007 (online)
Schlüsselwörter
zerebrale Gefäßmalformation - Kavernom - Molekulargenetik - CCM1, CCM2, CCM3
Key words
vascular malformation - cavernoma - molecular genetics - CCM1, CCM2, CCM3
Literatur
- 1 Bergametti F, Denier C, Labauge P. et al . Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet. 2005; 76 42-51
- 2 Bertalanffy H, Benes L, Miyazawa T, Alberti O, Siegel A M, Sure U. Cerebral cavernomas in the adult. Neurosurg Rev. 2002; 25 1-53
- 3 Felbor U. Molekulare Pathogenese erblicher Gefäßfehlbildungen. Broschüre des Bayerischen Genomforschungsnetzwerks 2007: 20-21
- 4 Felbor U, Gaetzner S, Verlaan D J, Vijzelaar R, Rouleau G A, Siegel A M. Large germline deletions and duplication in isolated cerebral cavernous malformation patients. Neurogenetics. 2007; 8 149-153
- 5 Felbor U, Sure U. Zerebrale kavernöse Malformationen. Medizinische Genetik. 2006; 18 330-334
- 6 Gaetzner S, Stahl S, Sürücü O. et al . CCM1 gene deletion identified by MLPA in cerebral cavernous malformation. Neurosurg Rev. 2007; 30 155-159
- 7 Gault J, Shenkar R, Recksiek P, Awad I A. Biallelic somatic and germ line CCM1 truncating mutations in a cerebral cavernous malformation lesion. Stroke. 2005; 36 872-874
- 8 Haag C, Schäfer R E, Schulze E. Kapillarelektrophoretische Identifizierung von Gendeletionen. Biospektrum. 2005; 11 1-2
- 9 Kehrer-Sawatzki H, Wilda M, Braun V M. et al . Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). Acta Neuropathol (Berl). 2002; 104 231-240
- 10 Kommission für Öffentlichkeitsarbeit und ethische Fragen der Gesellschaft für Humangenetik e. V. Medgen. 1995 7: 358-359
- 11 Labauge P, Denier C, Bergametti F, Tournier-Lasserve E. Genetics of cavernous angiomas. Lancet Neurol. 2007; 6 237-244
- 12 Labauge P, Laberge S, Brunereau L, Levy C, Tournier-Lasserve E. Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Lancet. 1998; 352 1892-1897
- 13 Laberge-le Couteulx S, Jung H H, Labauge P. et al . Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet. 1999; 23 189-193
- 14 Lehnhardt F G, Smekal U von, Ruckriem B. et al . Value of gradient-echo magnetic resonance imaging in the diagnosis of familial cerebral cavernous malformation. Arch Neurol. 2005; 62 653-658
- 15 Liquori C L, Berg M J, Siegel A M. 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; 73 1459-1464
- 16 Safavi-Abbasi S, Feiz-Erfan I, Spetzler R F. et al . Hemorrhage of cavernous malformations during pregnancy and in the peripartum period: causal or coincidence? . Neurosurg Focus. 2006; 21 e12
- 17 Samii M, Eghbal R, Carvalho G A, Matthies C. Surgical management of brainstem cavernomas. J Neurosurg. 2001; 95 825-832
- 18 Schouten J P, McElgunn C J, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002; 30 e57
- 19 Sürücü O, Sure U, Gaetzner S. et al . Clinical impact of CCM mutation detection in familial cavernous angioma. Childs Nerv Syst. 2006; 22 1461-1464
- 20 Uhlik M T, Abell A N, Johnson N L. et al . Rac-MEKK3-MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock. Nat Cell Biol. 2003; 5 1104-1110
- 21 Verlaan D J, Laurent S B, Sure U. et al . CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. Neurology. 2004; 62 1213-1215
- 22 Voss K, Stahl S, Schleider E. et al . CCM3 interacts with CCM2 indicating common pathogenesis for cerebral cavernous malformations. Neurogenetics. 2007 ; , (DOI 10.1007/s10048-007-0098-9)
- 23 Zawistowski J S, Stalheim L, Uhlik M T. et al . CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet. 2005; 14 2521-2531
PD Dr. med. Ute Felbor
Institut für Humangenetik, Biozentrum
Am Hubland
97074 Würzburg
Phone: 0931/888 4092
Fax: 0931/888 4069
Email: felbor@biozentrum.uni-wuerzburg.de