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Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.
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. Liquori CL, et al. Among authors: johnson ew. Am J Hum Genet. 2003 Dec;73(6):1459-64. doi: 10.1086/380314. Epub 2003 Nov 17. Am J Hum Genet. 2003. PMID: 14624391 Free PMC article.
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).
Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, Rich SS, Zabramski JM, Boguski MS, Green ED, Marchuk DA. Sahoo T, et al. Among authors: johnson ew. Hum Mol Genet. 1999 Nov;8(12):2325-33. doi: 10.1093/hmg/8.12.2325. Hum Mol Genet. 1999. PMID: 10545614
Mutational analysis of 206 families with cavernous malformations.
Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M. Laurans MS, et al. Among authors: johnson ew. J Neurosurg. 2003 Jul;99(1):38-43. doi: 10.3171/jns.2003.99.1.0038. J Neurosurg. 2003. PMID: 12854741
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27.
Craig HD, Günel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP. Craig HD, et al. Among authors: johnson ew. Hum Mol Genet. 1998 Nov;7(12):1851-8. doi: 10.1093/hmg/7.12.1851. Hum Mol Genet. 1998. PMID: 9811928
Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig.
Johnson EW, Iyer LM, Rich SS, Orr HT, Gil-Nagel A, Kurth JH, Zabramski JM, Marchuk DA, Weissenbach J, Clericuzio CL, Davis LE, Hart BL, Gusella JF, Kosofsky BE, Louis DN, Morrison LA, Green ED, Weber JL. Johnson EW, et al. Genome Res. 1995 Nov;5(4):368-80. doi: 10.1101/gr.5.4.368. Genome Res. 1995. PMID: 8750196 Free article.
402 results