CCM2

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Cerebral cavernous malformation 2
Identifiers
Symbols CCM2 ; C7orf22; MGC4067; MGC4607; MGC74868; PP10187
External IDs Template:OMIM5 Template:MGI HomoloGene12868
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Cerebral cavernous malformation 2, also known as CCM2, is a human gene.[1]


References

  1. "Entrez Gene: CCM2 cerebral cavernous malformation 2".

Further reading

  • Craig HD, Günel M, Cepeda O; et al. (1998). "Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27". Hum. Mol. Genet. 7 (12): 1851–8. PMID 9811928.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Scherer SW, Cheung J, MacDonald JR; et al. (2003). "Human chromosome 7: DNA sequence and biology". Science. 300 (5620): 767–72. doi:10.1126/science.1083423. PMID 12690205.
  • Dupré N, Verlaan DJ, Hand CK; et al. (2003). "Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation". The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 30 (2): 122–8. PMID 12774951.
  • Liquori CL, Berg MJ, Siegel AM; et al. (2004). "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): 1459–64. PMID 14624391.
  • Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Denier C, Goutagny S, Labauge P; et al. (2004). "Mutations within the MGC4607 gene cause cerebral cavernous malformations". Am. J. Hum. Genet. 74 (2): 326–37. PMID 14740320.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Wan D, Gong Y, Qin W; et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. doi:10.1073/pnas.0404089101. PMID 15498874.
  • Zawistowski JS, Stalheim L, Uhlik MT; et al. (2005). "CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis". Hum. Mol. Genet. 14 (17): 2521–31. doi:10.1093/hmg/ddi256. PMID 16037064.
  • Guclu B, Ozturk AK, Pricola KL; et al. (2006). "Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations". Stroke. 36 (11): 2479–80. doi:10.1161/01.STR.0000183616.99139.d3. PMID 16239636.
  • Seker A, Pricola KL, Guclu B; et al. (2006). "CCM2 expression parallels that of CCM1". Stroke. 37 (2): 518–23. doi:10.1161/01.STR.0000198835.49387.25. PMID 16373645.
  • Labauge P, Krivosic V, Denier C; et al. (2006). "Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study". Arch. Ophthalmol. 124 (6): 885–6. doi:10.1001/archopht.124.6.885. PMID 16769843.
  • Liquori CL, Berg MJ, Squitieri F; et al. (2007). "Deletions in CCM2 are a common cause of cerebral cavernous malformations". Am. J. Hum. Genet. 80 (1): 69–75. doi:10.1086/510439. PMID 17160895.
  • Zhang J, Rigamonti D, Dietz HC, Clatterbuck RE (2007). "Interaction between krit1 and malcavernin: implications for the pathogenesis of cerebral cavernous malformations". Neurosurgery. 60 (2): 353–9, discussion 359. doi:10.1227/01.NEU.0000249268.11074.83. PMID 17290187.
  • Gianfrancesco F, Cannella M, Martino T; et al. (2007). "Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations". Am. J. Med. Genet. B Neuropsychiatr. Genet. 144 (5): 691–5. doi:10.1002/ajmg.b.30381. PMID 17440989.

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