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Jejunal atresia and anterior chamber anomalies: Further delineation of the Stromme syndrome.
Castori M, Laino L, Briganti V, Pedace L, Zampini A, Marconi M, Grammatico B, Buffone E, Grammatico P. Castori M, et al. Eur J Med Genet. 2010 May-Jun;53(3):149-52. doi: 10.1016/j.ejmg.2010.02.005. Epub 2010 Feb 26. Eur J Med Genet. 2010. PMID: 20219704
Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly and developmental delay. ...Comparison of the previously published and present patients added some details on the natural …
Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anoma …
Miro-dependent mitochondrial pool of CENP-F and its farnesylated C-terminal domain are dispensable for normal development in mice.
Peterka M, Kornmann B. Peterka M, et al. PLoS Genet. 2019 Mar 11;15(3):e1008050. doi: 10.1371/journal.pgen.1008050. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30856164 Free PMC article.
Importantly, one of these truncations leads to ~80% downregulation of CENP-F expression. We observe that, despite the phenotypes apparent in cultured cells, mutant mice develop normally. ...In addition, because truncations of CENP-F in humans cause a lethal disease termed …
Importantly, one of these truncations leads to ~80% downregulation of CENP-F expression. We observe that, despite the phenotypes appa …