SMARCA2 mutations caused NCBRS, typically with short stature, sparse hair, a thin vermillion of the MG-132 concentration upper lip, an everted lower lip and prominent finger joints. A SMARCE1 mutation caused CSS without typical facial coarseness and with significant digital/nail hypoplasia. ARID1A mutations caused the most severe CSS with severe physical complications. ARID1B mutations caused CSS without typical facial coarseness and with mild digital/nail hypoplasia, or caused syndromic ID. Because of the common underlying mechanism and overlapping clinical features, we propose that these conditions be referred to collectively as
“SWI/SNF-related ID syndromes”. (C) 2013 Wiley Periodicals, Inc.”
“Epithelial Selleck Linsitinib malignancies frequently metastasize to the serous cavities and result in symptomatic effusions. Cytology has high specificity but moderate sensitivity for the diagnosis of a malignant effusion. We developed and validated a simple, rapid, 3-color flow cytometric panel using the adhesion molecule Ber-EP4 to detect epithelial cells in effusions. One hundred ninety-five consecutive benign and malignant effusions received for routine cytologic examination were analyzed Eighty-three fluid specimens were benign and 76 were malignant as judged by follow-up
data. Ber-EP4 positive cells were detected with flow cytometry in 89.3% of malignant effusions. The sensitivity and specificity of flow cytometry was 88.15% and 97.64% compared with 73.68% and 100% on cytologic examination alone for the presence of a malignant effusion. Flow cytometry is a useful adjunct to cytology for the diagnosis of a malignant effusion and is particularly useful if the cytologic diagnosis is atypical/suspicious or if the cytologic preparations are hypocellular or hemorrhagic.”
disconnected (disco) gene encodes a C(2)H(2)-type zinc finger transcription factor required for the development of the central and peripheral nervous systems. We report that disco participates in a positive feedback loop with the Dll gene, a master regulator of ventral appendage development. Dll function is not only required for proper disco expression AR-13324 chemical structure in antenna and leg discs, but is also sufficient for ectopic expression of disco in the developing retina and wing imaginal discs. Conversely, disco gene function is required for the maintenance of Dll expression. We show that Dll phenotypes are partially rescued by the up-regulation of disco expression in the Dll domain. Reduction in disco gene function disrupts antenna and leg development, and the phenotypes closely resemble that produced by Dll alleles. These observations demonstrate that disco plays a fundamental role in the Dll-dependent patterning of antenna and leg, perhaps as a regulator of Dll gene expression.”
“The Mre11/Rad50/Nbs1 protein complex plays central enzymatic and signaling roles in the DNA-damage response.