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GPR56 and its related diseases.
Jin Z, Luo R, Piao X. Jin Z, et al. Prog Mol Biol Transl Sci. 2009;89:1-13. doi: 10.1016/S1877-1173(09)89001-7. Epub 2009 Oct 7. Prog Mol Biol Transl Sci. 2009. PMID: 20374731 Review.
However, the function of GPR56 remained unclear until 2004 when mutations in the human GPR56 gene were found to cause a specific brain malformation called bilateral frontoparietal polymicrogyria. Although GPR56 is expressed in a wide range of tissues, the con …
However, the function of GPR56 remained unclear until 2004 when mutations in the human GPR56 gene were found to cause a specific brain malfo …
Genetic malformations of cortical development.
Guerrini R, Marini C. Guerrini R, et al. Exp Brain Res. 2006 Aug;173(2):322-33. doi: 10.1007/s00221-006-0501-z. Epub 2006 May 25. Exp Brain Res. 2006. PMID: 16724181 Review.
Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chromosome Xq28 in some pedigrees, autosomal dominant or recessive inheritance in others, and an association with chromosome 22q11.2 deletion i …
Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chr …
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.
Quattrocchi CC, Zanni G, Napolitano A, Longo D, Cordelli DM, Barresi S, Randisi F, Valente EM, Verdolotti T, Genovese E, Specchio N, Vitiello G, Spiegel R, Bertini E, Bernardi B. Quattrocchi CC, et al. Neurogenetics. 2013 Feb;14(1):77-83. doi: 10.1007/s10048-012-0352-7. Epub 2012 Dec 30. Neurogenetics. 2013. PMID: 23274687
GPR56-related bilateral frontoparietal polymicrogyria (BFPP) is a rare recessively inherited disorder of neuronal migration caused by mutations of GPR56. ...
GPR56-related bilateral frontoparietal polymicrogyria (BFPP) is a rare recessively inherited disorder of neuronal migra …